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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| cerebellar ataxia, mental retardation and dysequlibrium syndrome | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Phenotype Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | OMIM Disease Annotation Pipeline |
| 3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 4. | RGD automated import pipeline for gene-chemical interactions |
| 5. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 10551800 11015572 12477932 14702039 15057823 16344560 17621610 19778899 20379614 20683487 20889312 20947505 21454556 21873635 22892528 23568457 23579954 24077738 26240149 26344197 27679995 |
Comparative Map Data| ATP8A2 (Homo sapiens - human) |
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| Atp8a2 (Mus musculus - house mouse) |
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| Atp8a2 (Rattus norvegicus - Norway rat) |
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| ATP8A2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ATP8A2 (Canis lupus familiaris - dog) |
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| Atp8a2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| LOC100523747 (Sus scrofa - pig) |
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Position Markers| D13S221 |
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| D13S1294 |
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| D13S1285 |
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| WI-14969 |
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| D13S1191 |
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| WI-14830 |
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| SHGC-82790 |
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| SHGC-84149 |
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| RH121640 |
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| RH123137 |
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| D13S182E |
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| D13S308 |
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| D13S1035 |
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| D13S1055 |
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| D13S1126 |
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| G64210 |
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| SHGC-112580 |
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| SHGC-146587 |
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| SHGC-150884 |
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| SHGC-151273 |
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| SHGC-153606 |
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| WI-12595 |
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| STS-Z41450 |
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| D13S809 |
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| G54675 |
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| SHGC-152561 |
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| D13S221 |
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miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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Nucleotide Sequences| RefSeq Transcripts | NG_042855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001313741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_016529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005266419 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011535103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011535104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011535106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011535107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011535109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011535113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020625 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020626 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024449369 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC206479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF236871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK022096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK094653 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK126031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK127263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK302980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK310254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL136438 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL137256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL138815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL138958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL139004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL157366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL356316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL390129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL669971 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AX823716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC144228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC144229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BP396213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX537836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA326706 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| HY026915 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF455735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF455744 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001313741 ⟹ NP_001300670 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GGGGCCGGGGGCGGGGCCGGCCTTGGCTGCCGCGGCACAGGCGGCGGCGTCTCCAGGGGGAGCChide sequence |
| RefSeq Acc Id: | NM_016529 ⟹ NP_057613 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCGGATGCTGCCGCATTGGCCGCTGCGGCACGGACGGCGCAGCCTCGGGCGCGGCCCGGCACAGhide sequence |
| RefSeq Acc Id: | XM_005266419 ⟹ XP_005266476 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CACAGGCGGCGGCGTCTCCAGGGGGAGCCAAGGACCTGTTCGTTCTTCTTTGGGCTATAAGAAGhide sequence |
| RefSeq Acc Id: | XM_011535103 ⟹ XP_011533405 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCGGATGCTGCCGCATTGGCCGCTGCGGCACGGACGGCGCAGCCTCGGGCGCGGCCCGGCACAGhide sequence |
| RefSeq Acc Id: | XM_011535104 ⟹ XP_011533406 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGGCACCCGCCCGCACCATTTACCTCAACCAACCGCATCTCAACAAATTCCGCGACAACCAGAThide sequence |
| RefSeq Acc Id: | XM_011535106 ⟹ XP_011533408 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCGGATGCTGCCGCATTGGCCGCTGCGGCACGGACGGCGCAGCCTCGGGCGCGGCCCGGCACAGhide sequence |
| RefSeq Acc Id: | XM_011535107 ⟹ XP_011533409 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCGGATGCTGCCGCATTGGCCGCTGCGGCACGGACGGCGCAGCCTCGGGCGCGGCCCGGCACAGhide sequence |
| RefSeq Acc Id: | XM_011535109 ⟹ XP_011533411 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GATTAAAAGGTAAGGTGCATATCGAATAGGATGAATGTGTTTCAGGAACAAACTAGAAATGTTThide sequence |
| RefSeq Acc Id: | XM_011535113 ⟹ XP_011533415 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCGGATGCTGCCGCATTGGCCGCTGCGGCACGGACGGCGCAGCCTCGGGCGCGGCCCGGCACAGhide sequence |
| RefSeq Acc Id: | XM_017020625 ⟹ XP_016876114 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCGGATGCTGCCGCATTGGCCGCTGCGGCACGGACGGCGCAGCCTCGGGCGCGGCCCGGCACAGhide sequence |
| RefSeq Acc Id: | XM_017020626 ⟹ XP_016876115 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCGGATGCTGCCGCATTGGCCGCTGCGGCACGGACGGCGCAGCCTCGGGCGCGGCCCGGCACAGhide sequence |
| RefSeq Acc Id: | XM_024449369 ⟹ XP_024305137 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTACTTGAAACAGCAGAAAATGGAGTGATGGTCTCTAATTGATGGTCTTCTGTGGTCCAGGAGChide sequence |
Protein Sequences| Protein RefSeqs | NP_001300670 | (Get FASTA) | NCBI Sequence Viewer |
| NP_057613 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005266476 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533405 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533406 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533408 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533409 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533411 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533415 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016876114 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016876115 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024305137 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF40215 | (Get FASTA) | NCBI Sequence Viewer |
| BAC04396 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC86402 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC86905 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH13866 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB70658 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB99084 | (Get FASTA) | NCBI Sequence Viewer | |
| CAD97848 | (Get FASTA) | NCBI Sequence Viewer | |
| CAE84542 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08372 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08373 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08374 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08375 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08376 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9NTI2 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_057613 ⟸ NM_016529 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q9NTI2 (UniProtKB/Swiss-Prot), Q6ZSP3 (UniProtKB/TrEMBL), Q6ZU25 (UniProtKB/TrEMBL) |
| - Sequence: |
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHhide sequence |
| RefSeq Acc Id: | XP_005266476 ⟸ XM_005266419 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q9NTI2 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYEQIRRAANAFFLFIAhide sequence |
| RefSeq Acc Id: | XP_011533405 ⟸ XM_011535103 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHhide sequence |
| RefSeq Acc Id: | XP_011533408 ⟸ XM_011535106 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHhide sequence |
| RefSeq Acc Id: | XP_011533409 ⟸ XM_011535107 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHhide sequence |
| RefSeq Acc Id: | XP_011533415 ⟸ XM_011535113 |
| - Peptide Label: | isoform X8 |
| - Sequence: |
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHhide sequence |
| RefSeq Acc Id: | XP_011533406 ⟸ XM_011535104 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MRTVITFTPLDKSFEESCRRKYWNWGSFGIVHSSTAKYSVLTFLPRFLYEQIRRAANAFFLFIAhide sequence |
| RefSeq Acc Id: | XP_011533411 ⟸ XM_011535109 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MWHTIMWKEVAVGDIVKVVNGQYLPADVVLLSSSEPQAMCYVETANLDGETNLKIRQGLSHTADhide sequence |
| RefSeq Acc Id: | NP_001300670 ⟸ NM_001313741 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q9NTI2 (UniProtKB/Swiss-Prot), B7Z880 (UniProtKB/TrEMBL), Q6ZSP3 (UniProtKB/TrEMBL), Q6ZU25 (UniProtKB/TrEMBL) |
| - Sequence: |
MSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYEQIRRAANAFFLFIAhide sequence |
| RefSeq Acc Id: | XP_016876115 ⟸ XM_017020626 |
| - Peptide Label: | isoform X10 |
| - Sequence: |
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHhide sequence |
| RefSeq Acc Id: | XP_016876114 ⟸ XM_017020625 |
| - Peptide Label: | isoform X9 |
| - Sequence: |
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHhide sequence |
| RefSeq Acc Id: | XP_024305137 ⟸ XM_024449369 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MCYVETANLDGETNLKIRQGLSHTADMQTREVLMKLSGTIECEGPNRHLYDFTGNLNLDGKSLVhide sequence |
Promoters| RGD ID: | 7226063 | |||||||||
| Promoter ID: | EPDNEW_H18777 | |||||||||
| Type: | initiation region | |||||||||
| Name: | ATP8A2_1 | |||||||||
| Description: | ATPase phospholipid transporting 8A2 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 6810471 | |||||||||
| Promoter ID: | HG_ACW:20199 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, Jurkat, Lymphoblastoid | |||||||||
| Transcripts: | ATP8A2.FAPR07, ATP8A2.GAPR07 | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) | single nucleotide variant | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000043652] | Chr13:25553863 [GRCh38] Chr13:26128001 [GRCh37] Chr13:13q12.13 |
pathogenic |
| GRCh38/hg38 13q12.13(chr13:25779197-25998883)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051889]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051889]|See cases [RCV000051889] | Chr13:25779197..25998883 [GRCh38] Chr13:26248721..26573021 [GRCh37] Chr13:25146721..25471021 [NCBI36] Chr13:13q12.13 |
uncertain significance |
| GRCh38/hg38 13q12.12-12.13(chr13:24635449-25592788)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051985]|See cases [RCV000051985] | Chr13:24635449..25592788 [GRCh38] Chr13:25209587..26166926 [GRCh37] Chr13:24107587..25064926 [NCBI36] Chr13:13q12.12-12.13 |
uncertain significance |
| GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|See cases [RCV000053726] | Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 | copy number gain | Bilateral cleft palate [RCV000053729]|See cases [RCV000053729] | Chr13:18958091..31090460 [GRCh38] Chr13:19532231..31664597 [GRCh37] Chr13:18430231..30562597 [NCBI36] Chr13:13q12.11-12.3 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|See cases [RCV000053731] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|See cases [RCV000053719] | Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 | copy number gain | Intellectual functioning disability [RCV000053721]|See cases [RCV000053721] | Chr13:18676442..37656039 [GRCh38] Chr13:19250582..38230176 [GRCh37] Chr13:18148582..37128176 [NCBI36] Chr13:13q11-13.3 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 | copy number gain | Premature Birth [RCV000053723]|See cases [RCV000053723] | Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
| NM_016529.4(ATP8A2):c.3334C>T (p.Arg1112Ter) | single nucleotide variant | Malignant melanoma [RCV000070328] | Chr13:25968636 [GRCh38] Chr13:26542774 [GRCh37] Chr13:25440774 [NCBI36] Chr13:13q12.13 |
not provided |
| NM_016529.4(ATP8A2):c.2679G>A (p.Glu893=) | single nucleotide variant | Malignant melanoma [RCV000062651] | Chr13:25774959 [GRCh38] Chr13:26349097 [GRCh37] Chr13:25247097 [NCBI36] Chr13:13q12.13 |
not provided |
| NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) | single nucleotide variant | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000660469] | Chr13:25469058 [GRCh38] Chr13:26043196 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.4(ATP8A2):c.76+14314C>T | single nucleotide variant | Lung cancer [RCV000097796] | Chr13:25386602 [GRCh38] Chr13:25960740 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.4(ATP8A2):c.77-36336A>G | single nucleotide variant | Lung cancer [RCV000097797] | Chr13:25432641 [GRCh38] Chr13:26006779 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.4(ATP8A2):c.779+11C>A | single nucleotide variant | Lung cancer [RCV000097798] | Chr13:25542057 [GRCh38] Chr13:26116195 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.4(ATP8A2):c.2212-39184G>T | single nucleotide variant | Lung cancer [RCV000097799] | Chr13:25659989 [GRCh38] Chr13:26234127 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.4(ATP8A2):c.2212-30904C>G | single nucleotide variant | Lung cancer [RCV000097800] | Chr13:25668269 [GRCh38] Chr13:26242407 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.4(ATP8A2):c.2384+29212A>T | single nucleotide variant | Lung cancer [RCV000097801] | Chr13:25728557 [GRCh38] Chr13:26302695 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.4(ATP8A2):c.2956+4531G>T | single nucleotide variant | Lung cancer [RCV000097802] | Chr13:25844155 [GRCh38] Chr13:26418293 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.6(ATP8A2):c.144A>C (p.Gly48=) | single nucleotide variant | AllHighlyPenetrant [RCV000116457]|not specified [RCV000116457] | Chr13:25469044 [GRCh38] Chr13:26043182 [GRCh37] Chr13:13q12.13 |
benign|likely benign |
| NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) | single nucleotide variant | AllHighlyPenetrant [RCV000116458]|not specified [RCV000116458] | Chr13:25574828 [GRCh38] Chr13:26148966 [GRCh37] Chr13:13q12.13 |
benign|likely benign |
| NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) | single nucleotide variant | AllHighlyPenetrant [RCV000116459]|not specified [RCV000116459] | Chr13:25699247 [GRCh38] Chr13:26273385 [GRCh37] Chr13:13q12.13 |
benign|likely benign |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 | copy number gain | See cases [RCV000134104] | Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 | copy number loss | See cases [RCV000135610] | Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q12.13(chr13:25410920-25605325)x3 | copy number gain | See cases [RCV000137299] | Chr13:25410920..25605325 [GRCh38] Chr13:25985058..26179463 [GRCh37] Chr13:24883058..25077463 [NCBI36] Chr13:13q12.13 |
uncertain significance |
| GRCh38/hg38 13q12.13(chr13:25605266-25805785)x1 | copy number loss | See cases [RCV000137932] | Chr13:25605266..25805785 [GRCh38] Chr13:26179404..26379923 [GRCh37] Chr13:25077404..25277923 [NCBI36] Chr13:13q12.13 |
uncertain significance |
| GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 | copy number gain | See cases [RCV000137892] | Chr13:19671934..40914767 [GRCh38] Chr13:20246074..41488903 [GRCh37] Chr13:19144074..40386903 [NCBI36] Chr13:13q12.11-14.11 |
pathogenic |
| NM_016529.6(ATP8A2):c.3075A>G (p.Lys1025=) | single nucleotide variant | not provided [RCV000418598]|not specified [RCV000202917] | Chr13:25860860 [GRCh38] Chr13:26434998 [GRCh37] Chr13:13q12.13 |
likely benign |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 | copy number gain | See cases [RCV000139078] | Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh37/hg19 13q12.13(chr13:26248721-26359860)x1 | copy number loss | See cases [RCV000139045] | Chr13:26248721..26359860 [GRCh37] Chr13:25146721..25257860 [NCBI36] Chr13:13q12.13 |
uncertain significance |
| GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 | copy number gain | See cases [RCV000140004] | Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q12.13(chr13:25779197-26026902)x0 | copy number loss | See cases [RCV000140920] | Chr13:25779197..26026902 [GRCh38] Chr13:26244330..26601040 [GRCh37] Chr13:25142330..25499040 [NCBI36] Chr13:13q12.13 |
uncertain significance |
| GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 | copy number gain | See cases [RCV000141867] | Chr13:18862146..33577351 [GRCh38] Chr13:19436286..34151488 [GRCh37] Chr13:18334286..33049488 [NCBI36] Chr13:13q11-13.2 |
pathogenic |
| GRCh37/hg19 13q12.13(chr13:26284166-26428005)x1 | copy number loss | See cases [RCV000142039] | Chr13:26284166..26428005 [GRCh37] Chr13:25182166..25326005 [NCBI36] Chr13:13q12.13 |
uncertain significance |
| GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 | copy number gain | See cases [RCV000142924] | Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 | copy number gain | See cases [RCV000143462] | Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
| NM_016529.6(ATP8A2):c.145G>T (p.Asp49Tyr) | single nucleotide variant | not provided [RCV000484087]|not specified [RCV000202650] | Chr13:25469045 [GRCh38] Chr13:26043183 [GRCh37] Chr13:13q12.13 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000148126] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| NM_016529.6(ATP8A2):c.1872G>T (p.Leu624Phe) | single nucleotide variant | not specified [RCV000194756] | Chr13:25579812 [GRCh38] Chr13:26153950 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 | copy number gain | See cases [RCV000240150] | Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
| NM_016529.6(ATP8A2):c.76+10G>A | single nucleotide variant | not provided [RCV000514617] | Chr13:25372298 [GRCh38] Chr13:25946436 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.6(ATP8A2):c.1782+2T>C | single nucleotide variant | not specified [RCV000490033] | Chr13:25577140 [GRCh38] Chr13:26151278 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.6(ATP8A2):c.857T>C (p.Val286Ala) | single nucleotide variant | not specified [RCV000522049] | Chr13:25543368 [GRCh38] Chr13:26117506 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) | single nucleotide variant | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000655951] | Chr13:25828127 [GRCh38] Chr13:26402265 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.6(ATP8A2):c.1883G>A (p.Cys628Tyr) | single nucleotide variant | Epilepsy [RCV000414852]|Seizure Disorders [RCV000414852] | Chr13:25579823 [GRCh38] Chr13:26153961 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) | copy number gain | See cases [RCV000449142] | Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
| NM_016529.6(ATP8A2):c.2278G>A (p.Val760Met) | single nucleotide variant | not provided [RCV000443031] | Chr13:25699239 [GRCh38] Chr13:26273377 [GRCh37] Chr13:13q12.13 |
likely benign |
| NM_016529.6(ATP8A2):c.3324A>C (p.Glu1108Asp) | single nucleotide variant | not specified [RCV000438321] | Chr13:25968626 [GRCh38] Chr13:26542764 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | See cases [RCV000445886] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| NM_016529.6(ATP8A2):c.1286A>T (p.Lys429Met) | single nucleotide variant | not specified [RCV000425151] | Chr13:25558995 [GRCh38] Chr13:26133133 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.6(ATP8A2):c.1787del (p.Asn596fs) | deletion | not provided [RCV000480922] | Chr13:25578819 [GRCh38] Chr13:26152957 [GRCh37] Chr13:13q12.13 |
pathogenic |
| NM_016529.6(ATP8A2):c.3104T>C (p.Met1035Thr) | single nucleotide variant | not specified [RCV000484260] | Chr13:25862329 [GRCh38] Chr13:26436467 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.6(ATP8A2):c.424C>T (p.Arg142Ter) | single nucleotide variant | not provided [RCV000482805] | Chr13:25532275 [GRCh38] Chr13:26106413 [GRCh37] Chr13:13q12.13 |
likely pathogenic |
| NM_016529.6(ATP8A2):c.321+3_321+8del | deletion | not provided [RCV000484789] | Chr13:25530101..25530106 [GRCh38] Chr13:26104239..26104244 [GRCh37] Chr13:13q12.13 |
likely pathogenic |
| NM_016529.6(ATP8A2):c.2293G>T (p.Asp765Tyr) | single nucleotide variant | not provided [RCV000486844] | Chr13:25699254 [GRCh38] Chr13:26273392 [GRCh37] Chr13:13q12.13 |
likely pathogenic |
| NM_016529.6(ATP8A2):c.2568+1G>A | single nucleotide variant | not provided [RCV000498945] | Chr13:25769230 [GRCh38] Chr13:26343368 [GRCh37] Chr13:13q12.13 |
likely pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1 | copy number loss | See cases [RCV000511657] | Chr13:23552966..27027909 [GRCh37] Chr13:13q12.12-12.13 |
likely pathogenic |
| NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) | single nucleotide variant | not provided [RCV000494399] | Chr13:25577112 [GRCh38] Chr13:26151250 [GRCh37] Chr13:13q12.13 |
likely pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 | copy number loss | PARP Inhibitor response [RCV000626443] | Chr13:24080918..34361992 [GRCh37] Chr13:13q12.12-13.2 |
drug response |
| NM_016529.6(ATP8A2):c.1398-13T>G | single nucleotide variant | not provided [RCV000514520] | Chr13:25563943 [GRCh38] Chr13:26138081 [GRCh37] Chr13:13q12.13 |
likely benign |
| NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) | single nucleotide variant | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000625793] | Chr13:25699294 [GRCh38] Chr13:26273432 [GRCh37] Chr13:13q12.13 |
likely pathogenic |
| NM_016529.6(ATP8A2):c.3075+19T>C | single nucleotide variant | not provided [RCV000514870] | Chr13:25860879 [GRCh38] Chr13:26435017 [GRCh37] Chr13:13q12.13 |
likely benign |
| NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) | duplication | Inborn genetic diseases [RCV000624070] | Chr13:25577117 [GRCh38] Chr13:26151255 [GRCh37] Chr13:13q12.13 |
pathogenic |
| NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) | single nucleotide variant | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000662154] | Chr13:26012592 [GRCh38] Chr13:26586730 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| GRCh37/hg19 13q12.13(chr13:26445034-26510336)x1 | copy number loss | not provided [RCV000683484] | Chr13:26445034..26510336 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 | copy number gain | not provided [RCV000683572] | Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 | copy number gain | not provided [RCV000738115] | Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 | copy number gain | not provided [RCV000750643] | Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q12.13(chr13:26192118-26282054)x1 | copy number loss | not provided [RCV000750676] | Chr13:26192118..26282054 [GRCh37] Chr13:13q12.13 |
benign |
| GRCh37/hg19 13q12.13(chr13:26246272-26267518)x1 | copy number loss | not provided [RCV000750677] | Chr13:26246272..26267518 [GRCh37] Chr13:13q12.13 |
benign |
| NM_016529.6(ATP8A2):c.1349A>G (p.Tyr450Cys) | single nucleotide variant | not provided [RCV000761854] | Chr13:25559058 [GRCh38] Chr13:26133196 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| NM_016529.6(ATP8A2):c.2449_2451del (p.Leu817del) | deletion | not specified [RCV000780940] | Chr13:25769110..25769112 [GRCh38] Chr13:26343248..26343250 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| GRCh37/hg19 13q12.13(chr13:26075181-26200618)x3 | copy number gain | not provided [RCV000845763] | Chr13:26075181..26200618 [GRCh37] Chr13:13q12.13 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 | copy number gain | not provided [RCV000847640] | Chr13:20069228..27474401 [GRCh37] Chr13:13q12.11-12.13 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:13533 | AgrOrtholog |
| COSMIC | ATP8A2 | COSMIC |
| Ensembl Genes | ENSG00000132932 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000255283 | ENTREZGENE, UniProtKB/TrEMBL |
| ENSP00000281620 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000371070 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000255283 | ENTREZGENE, UniProtKB/TrEMBL |
| ENST00000281620 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000381655 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 3.40.1110.10 | UniProtKB/Swiss-Prot |
| 3.40.50.1000 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000132932 | GTEx |
| HGNC ID | HGNC:13533 | ENTREZGENE |
| Human Proteome Map | ATP8A2 | Human Proteome Map |
| InterPro | ATPase_P-typ_cyto_dom_N | UniProtKB/Swiss-Prot |
| ATPase_P-typ_P_site | UniProtKB/Swiss-Prot | |
| ATPase_P-typ_TM_dom_sf | UniProtKB/Swiss-Prot | |
| ATPase_P-typ_transduc_dom_A_sf | UniProtKB/Swiss-Prot | |
| HAD-like_sf | UniProtKB/Swiss-Prot | |
| HAD_sf | UniProtKB/Swiss-Prot | |
| P-type_ATPase_IV | UniProtKB/Swiss-Prot | |
| P-type_ATPase_N | UniProtKB/Swiss-Prot | |
| P_typ_ATPase | UniProtKB/Swiss-Prot | |
| P_typ_ATPase_c | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:51761 | UniProtKB/Swiss-Prot |
| NCBI Gene | 51761 | ENTREZGENE |
| OMIM | 605870 | OMIM |
| 615268 | OMIM | |
| PANTHER | PTHR24092 | UniProtKB/Swiss-Prot |
| Pfam | PhoLip_ATPase_C | UniProtKB/Swiss-Prot |
| PhoLip_ATPase_N | UniProtKB/Swiss-Prot | |
| PharmGKB | PA25166 | PharmGKB |
| PROSITE | ATPASE_E1_E2 | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF56784 | UniProtKB/Swiss-Prot |
| SSF81653 | UniProtKB/Swiss-Prot | |
| SSF81660 | UniProtKB/Swiss-Prot | |
| SSF81665 | UniProtKB/Swiss-Prot | |
| TIGRFAMs | ATPase-Plipid | UniProtKB/Swiss-Prot |
| ATPase_P-type | UniProtKB/Swiss-Prot | |
| UniGene | Hs.444957 | ENTREZGENE |
| Hs.599723 | ENTREZGENE | |
| UniProt | AT8A2_HUMAN | UniProtKB/Swiss-Prot |
| B7Z880 | ENTREZGENE, UniProtKB/TrEMBL | |
| F8VRS1_HUMAN | UniProtKB/TrEMBL | |
| F8W9B3_HUMAN | UniProtKB/TrEMBL | |
| Q6ZSP3 | ENTREZGENE | |
| Q6ZU25 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9NTI2 | ENTREZGENE | |
| UniProt Secondary | Q6ZSP3 | UniProtKB/Swiss-Prot |
| Q9H527 | UniProtKB/Swiss-Prot | |
| Q9NPU6 | UniProtKB/Swiss-Prot | |
| Q9NTL2 | UniProtKB/Swiss-Prot | |
| Q9NYM3 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-16 | ATP8A2 | ATPase phospholipid transporting 8A2 | ATPase, aminophospholipid transporter, class I, type 8A, member 2 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-07-27 | ATP8A2 | ATPase, aminophospholipid transporter, class I, type 8A, member 2 | ATP8A2 | ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on ATP8A2 | |
|
Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1344629 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
