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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 |
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Variant Visualizer (Genomic Variants) |
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 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 - ClinVar | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| High Myopia | IAGP | RGD:14696143 | 8554872 | ClinVar Annotator: match by term: Severe Myopia | ClinVar | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway AnnotationsReferences - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Hardie DG J Cell Sci. 2004 Nov 1;117(Pt 23):5479-87. |
| 3. | Hardie DG, etal., FEBS Lett. 2003 Jul 3;546(1):113-20. |
| 4. | Horikoshi M, etal., Diabetes. 2006 Apr;55(4):919-23. |
| 5. | KEGG |
| 6. | Pipeline to import KEGG annotations from KEGG into RGD |
| 7. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 8. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | RGD automated import pipeline for gene-chemical interactions |
| 10. | Viollet B, etal., J Clin Invest 2003 Jan;111(1):91-8. |
References - uncurated| PubMed | 1322130 1365882 1536860 2900138 7959015 7988703 8889548 9148944 9224708 10642499 10698692 10760274 11052978 11171059 11257506 11389854 11500364 11797013 12067722 12091379 12391032 12413941 12427743 12444247 12456889 12477932 12519745 12663462 12740371 12788940 12847291 12853467 12941758 14532170 14613924 14651849 14709557 14729328 14742438 14985344 14985505 15024086 15058305 15060529 15231718 15297373 15371448 15489334 15572372 16054041 16054095 16054096 16275868 16344560 16483872 16505254 16518831 16598851 16624523 16670154 16710414 16801347 16984726 17012231 17179156 17950019 18029386 18195011 18439900 18614941 18674809 18801964 18836454 18974883 18996102 19170765 19274086 19434633 19440859 19470831 19502591 19528236 19574280 19616115 19720090 19720831 19723084 19728147 19836452 19913121 19948975 20124121 20167927 20217115 20392842 20558612 20562859 20602615 20628086 20647423 20682687 20801214 20821366 20876741 21072212 21209024 21344388 21432774 21516116 21543851 21651489 21673972 21768291 21825219 21873635 22137581 22212710 22286170 22305490 22561688 22728651 22797923 22897928 22939624 23000302 23293026 23396962 23476055 23723070 24414799 24722188 25126726 25184681 25241761 25416956 25590814 25687571 25799226 25840010 25846811 25858560 26108355 26186194 26337566 26344197 26351140 26374855 26427488 26496610 26831516 26843621 26876938 27638620 27687210 27732087 27758765 27779715 27797909 28085543 28143904 28162974 28183804 28322508 28514442 28561066 28611215 28973039 29053956 29339542 29950484 30057310 30270274 |
Comparative Map Data| PRKAA2 (Homo sapiens - human) |
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| Prkaa2 (Mus musculus - house mouse) |
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| Prkaa2 (Rattus norvegicus - Norway rat) |
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| Prkaa2 (Chinchilla lanigera - long-tailed chinchilla) |
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| PRKAA2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PRKAA2 (Canis lupus familiaris - dog) |
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| Prkaa2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PRKAA2 (Sus scrofa - pig) |
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Position Markers| D1S2690 |
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| SHGC-68634 |
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| GDB:573976 |
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| SHGC-141488 |
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| PRKAA2_1075 |
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| D1S2056E |
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| PRKAA2 |
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| SHGC-74882 |
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| D1S2084 |
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| SHGC-74886 |
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| SHGC-35382 |
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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 | NM_006252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_017001692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017001693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017001694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001737290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC099789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AI732856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK314011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL035705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL596521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL710110 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC043195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC069680 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC069740 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC069823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM979925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CB985850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CF552084 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA710012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF056019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FJ200485 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FJ200486 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| HQ628625 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF495958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U06454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_006252 ⟹ NP_006243 | |||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
CTGTGGGTAGGCGGCGGCGGCGGCGGCTACGCGGAGCGGCAGGCGGTGGAGCGAGGCCGCGCGChide sequence |
| RefSeq Acc Id: | XM_017001692 ⟹ XP_016857181 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTGAGTATAAGTTGGAACTATATGGTGTTCCATAATTGATTCCAGTTTTTCCAGTCTTAATTAAhide sequence |
| RefSeq Acc Id: | XM_017001693 ⟹ XP_016857182 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTTTCTGGAGGTCGGAGCAAGGCACTTCTGTGTTCTCTGGACCTCAGTGTCCTCCTCTGCAAAAhide sequence |
| RefSeq Acc Id: | XM_017001694 ⟹ XP_016857183 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GGTGAAGATCGGACACTACGTGCTGGGCGACACGCTGGGCGTCGGCACCTTCGGCAAAGTGAAGhide sequence |
| RefSeq Acc Id: | XR_001737290 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
CTGTGGGTAGGCGGCGGCGGCGGCGGCTACGCGGAGCGGCAGGCGGTGGAGCGAGGCCGCGCGChide sequence |
Protein Sequences| Protein RefSeqs | NP_006243 | (Get FASTA) | NCBI Sequence Viewer |
| XP_016857181 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016857182 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016857183 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAA64745 | (Get FASTA) | NCBI Sequence Viewer |
| AAH69680 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH69740 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH69823 | (Get FASTA) | NCBI Sequence Viewer | |
| ABK30810 | (Get FASTA) | NCBI Sequence Viewer | |
| ACO54882 | (Get FASTA) | NCBI Sequence Viewer | |
| ACO54883 | (Get FASTA) | NCBI Sequence Viewer | |
| AER93375 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG36722 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX06650 | (Get FASTA) | NCBI Sequence Viewer | |
| P54646 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_006243 ⟸ NM_006252 |
| - UniProtKB: | P54646 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAEKQKHDGRVKIGHYVLGDTLGVGTFGKVKIGEHQLTGHKVAVKILNRQKIRSLDVVGKIKREhide sequence |
| RefSeq Acc Id: | XP_016857183 ⟸ XM_017001694 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MVMEYVSGGELFDYICKHGRVEEMEARRLFQQILSAVDYCHRHMVVHRDLKPENVLLDAHMNAKhide sequence |
| RefSeq Acc Id: | XP_016857182 ⟸ XM_017001693 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MVMEYVSGGELFDYICKHGRVEEMEARRLFQQILSAVDYCHRHMVVHRDLKPENVLLDAHMNAKhide sequence |
| RefSeq Acc Id: | XP_016857181 ⟸ XM_017001692 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MVMEYVSGGELFDYICKHGRVEEMEARRLFQQILSAVDYCHRHMVVHRDLKPENVLLDAHMNAKhide sequence |
Promoters| RGD ID: | 6855676 | |||||||||
| Promoter ID: | EPDNEW_H1003 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PRKAA2_1 | |||||||||
| Description: | protein kinase AMP-activated catalytic subunit alpha 2 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 6786305 | |||||||||
| Promoter ID: | HG_KWN:2899 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3 | |||||||||
| Transcripts: | NM_006252, OTTHUMT00000095577, OTTHUMT00000095578 | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] | Chr1:50222546..61618373 [GRCh38] Chr1:50688218..62084045 [GRCh37] Chr1:50460805..61856633 [NCBI36] Chr1:1p32.3-31.3 |
pathogenic |
| GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 | copy number gain | Global developmental delay [RCV000051822]|See cases [RCV000051822] | Chr1:52595352..76767765 [GRCh38] Chr1:53061024..77233450 [GRCh37] Chr1:52833612..77006038 [NCBI36] Chr1:1p32.3-31.1 |
pathogenic |
| GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1 | copy number loss | Narrow face [RCV000053839]|See cases [RCV000053839] | Chr1:53738212..61439648 [GRCh38] Chr1:54203885..61905320 [GRCh37] Chr1:53976473..61677908 [NCBI36] Chr1:1p32.3-31.3 |
pathogenic |
| NM_006252.3(PRKAA2):c.772A>G (p.Thr258Ala) | single nucleotide variant | Malignant melanoma [RCV000064834] | Chr1:56696143 [GRCh38] Chr1:57161816 [GRCh37] Chr1:56934404 [NCBI36] Chr1:1p32.2 |
not provided |
| NM_006252.3(PRKAA2):c.715C>T (p.Arg239Cys) | single nucleotide variant | Malignant melanoma [RCV000060221] | Chr1:56696086 [GRCh38] Chr1:57161759 [GRCh37] Chr1:56934347 [NCBI36] Chr1:1p32.2 |
not provided |
| GRCh38/hg38 1p32.2(chr1:56429283-57190889)x3 | copy number gain | See cases [RCV000138097] | Chr1:56429283..57190889 [GRCh38] Chr1:56894955..57656562 [GRCh37] Chr1:56667543..57429150 [NCBI36] Chr1:1p32.2 |
uncertain significance |
| GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1 | copy number loss | See cases [RCV000139470] | Chr1:53627272..64248854 [GRCh38] Chr1:54092945..64714537 [GRCh37] Chr1:53865533..64487125 [NCBI36] Chr1:1p32.3-31.3 |
pathogenic |
| GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 | copy number gain | See cases [RCV000141758] | Chr1:52787503..67339873 [GRCh38] Chr1:53253175..67805556 [GRCh37] Chr1:53025763..67578144 [NCBI36] Chr1:1p32.3-31.3 |
likely pathogenic |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 | copy number loss | not provided [RCV000762767] | Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
| GRCh37/hg19 1p32.3-31.3(chr1:55791287-63405767)x1 | copy number loss | See cases [RCV000447265] | Chr1:55791287..63405767 [GRCh37] Chr1:1p32.3-31.3 |
pathogenic |
| GRCh37/hg19 1p32.3-31.3(chr1:55831175-62285511)x3 | copy number gain | See cases [RCV000447469] | Chr1:55831175..62285511 [GRCh37] Chr1:1p32.3-31.3 |
uncertain significance |
| GRCh37/hg19 1p32.2(chr1:56897995-57698341)x3 | copy number gain | See cases [RCV000446240] | Chr1:56897995..57698341 [GRCh37] Chr1:1p32.2 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p32.2(chr1:57109660-57189793)x3 | copy number gain | not provided [RCV000749004] | Chr1:57109660..57189793 [GRCh37] Chr1:1p32.2 |
benign |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 | copy number gain | Global developmental delay [RCV000787285] | Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1 |
uncertain significance |
| NM_006252.4(PRKAA2):c.352C>T (p.Arg118Trp) | single nucleotide variant | Severe Myopia [RCV000785689] | Chr1:56692379 [GRCh38] Chr1:57158052 [GRCh37] Chr1:1p32.2 |
uncertain significance |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:9377 | AgrOrtholog |
| COSMIC | PRKAA2 | COSMIC |
| Ensembl Genes | ENSG00000162409 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000360290 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000481378 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000371244 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000610361 | UniProtKB/TrEMBL | |
| GTEx | ENSG00000162409 | GTEx |
| HGNC ID | HGNC:9377 | ENTREZGENE |
| Human Proteome Map | PRKAA2 | Human Proteome Map |
| InterPro | AMPK_C | UniProtKB/Swiss-Prot |
| AMPKA2_C | UniProtKB/Swiss-Prot | |
| KA1/Ssp2_C | UniProtKB/Swiss-Prot | |
| Kinase-like_dom_sf | UniProtKB/Swiss-Prot | |
| Prot_kinase_dom | UniProtKB/Swiss-Prot | |
| Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot | |
| Ser/Thr_kinase_AS | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:5563 | UniProtKB/Swiss-Prot |
| NCBI Gene | 5563 | ENTREZGENE |
| OMIM | 600497 | OMIM |
| Pfam | AdenylateSensor | UniProtKB/Swiss-Prot |
| Pkinase | UniProtKB/Swiss-Prot | |
| PharmGKB | PA33745 | PharmGKB |
| PROSITE | PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot |
| PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot | |
| PROTEIN_KINASE_ST | UniProtKB/Swiss-Prot | |
| SMART | S_TKc | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF103243 | UniProtKB/Swiss-Prot |
| SSF56112 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.437039 | ENTREZGENE |
| UniProt | A0A087WXX9_HUMAN | UniProtKB/TrEMBL |
| A0MZF5_HUMAN | UniProtKB/TrEMBL | |
| AAPK2_HUMAN | UniProtKB/Swiss-Prot | |
| K9J960_HUMAN | UniProtKB/TrEMBL | |
| K9J973_HUMAN | UniProtKB/TrEMBL | |
| P54646 | ENTREZGENE | |
| UniProt Secondary | Q9H1E8 | UniProtKB/Swiss-Prot |
| Q9UD43 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-02 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | protein kinase, AMP-activated, alpha 2 catalytic subunit | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-08-16 | PRKAA2 | protein kinase, AMP-activated, alpha 2 catalytic subunit | PRKAA2 | protein kinase, AMP-activated, alpha 2 catalytic subunit | Symbol and/or name change | 5135510 | APPROVED |
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| More on PRKAA2 | |
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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: | 730888 |
| Created: | 2003-12-10 |
| 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.
