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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 - ClinVar | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| prostate cancer | IAGP | RGD:9686928 | 8554872 | ClinVar Annotator: match by term: Prostate cancer | ClinVar | PMID:23265383 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
| 4. | Westlund KN, etal., Neuroscience. 2014 Mar 14;262:165-75. doi: 10.1016/j.neuroscience.2013.12.043. Epub 2014 Jan 3. |
| 5. | Zhu X, etal., Cell 1996 May 31;85(5):661-71. |
References - uncurated| PubMed | 10816590 10980202 11042129 11163362 11290752 11713258 11830588 12032305 12154080 12356946 12477932 12736151 12857742 14505576 15146197 15358862 15540229 15757897 16033767 16144838 16254212 16344560 16382100 16527499 17031666 17074721 17081983 17110928 17217052 17920677 18021253 18048348 18976975 19059308 19307462 19725137 19996314 20164195 20379614 20458742 20468064 20574736 21427121 21873635 22457348 22920441 23251661 23326517 23549783 23677990 24563462 24603752 25158072 25349210 25476892 25788576 26083271 26755577 26999308 27617218 27992507 28124739 28185894 28325835 28455787 28499580 28522036 28627017 28790178 29472562 30108272 |
Comparative Map Data| TRPC4 (Homo sapiens - human) |
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| Trpc4 (Mus musculus - house mouse) |
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| Trpc4 (Rattus norvegicus - Norway rat) |
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| Trpc4 (Chinchilla lanigera - long-tailed chinchilla) |
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| TRPC4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| TRPC4 (Canis lupus familiaris - dog) |
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| Trpc4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| TRPC4 (Sus scrofa - pig) |
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Position Markers| SHGC-82198 |
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| SHGC-146298 |
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| TRPC4_8690 |
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| D13S1648 |
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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_029849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001135955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001135956 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001135957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001135958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001354799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001354806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001372055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_003306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_016179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011535206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020723 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF063822 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF063823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF063824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF063825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF175406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF421358 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF421359 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF421360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF421361 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF421362 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK312524 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL138679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL354802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL356495 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC104725 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC105306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC105641 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC105917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX648312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CN364204 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB258184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB278337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB308366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U40983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001135955 ⟹ NP_001129427 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTCGCCCAGAGAAGCGGGAGTGGGAGAAGCTTTGAGAGTTGCAGGGGACTACTTTTTTCCGGThide sequence |
| RefSeq Acc Id: | NM_001135956 ⟹ NP_001129428 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTCGCCCAGAGAAGCGGGAGTGGGAGAAGCTTTGAGAGTTGCAGGGGACTACTTTTTTCCGGThide sequence |
| RefSeq Acc Id: | NM_001135957 ⟹ NP_001129429 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTCGCCCAGAGAAGCGGGAGTGGGAGAAGCTTTGAGAGTTGCAGGGGACTACTTTTTTCCGGThide sequence |
| RefSeq Acc Id: | NM_001135958 ⟹ NP_001129430 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTCGCCCAGAGAAGCGGGAGTGGGAGAAGCTTTGAGAGTTGCAGGGGACTACTTTTTTCCGGThide sequence |
| RefSeq Acc Id: | NM_001354799 ⟹ NP_001341728 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGTCGCCCAGAGAAGCGGGAGTGGGAGAAGCTTTGAGAGTTGCAGGGGACTACTTTTTTCCGGThide sequence |
| RefSeq Acc Id: | NM_001354806 ⟹ NP_001341735 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGTCGCCCAGAGAAGCGGGAGTGGGAGAAGCTTTGAGAGTTGCAGGGGACTACTTTTTTCCGGThide sequence |
| RefSeq Acc Id: | NM_001372055 ⟹ NP_001358984 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_003306 ⟹ NP_003297 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTCGCCCAGAGAAGCGGGAGTGGGAGAAGCTTTGAGAGTTGCAGGGGACTACTTTTTTCCGGThide sequence |
| RefSeq Acc Id: | NM_016179 ⟹ NP_057263 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTCGCCCAGAGAAGCGGGAGTGGGAGAAGCTTTGAGAGTTGCAGGGGACTACTTTTTTCCGGThide sequence |
| RefSeq Acc Id: | XM_011535206 ⟹ XP_011533508 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGGAAGCCATTTATCAAGTTTATCTGCCACACAGCCTCCTATTTGACTTTTTTGTTCCTGCTGChide sequence |
| RefSeq Acc Id: | XM_017020723 ⟹ XP_016876212 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTGCTGCTGCTTGCCTCTCAGCACATCGACAGGTCAGACTTGAACAGGCAAGGTCCACCACCAAhide sequence |
Protein Sequences| Protein RefSeqs | NP_001129427 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001129428 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001129429 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001129430 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001341728 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001341735 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001358984 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_003297 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_057263 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533508 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016876212 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAC50630 | (Get FASTA) | NCBI Sequence Viewer |
| AAD51736 | (Get FASTA) | NCBI Sequence Viewer | |
| AAF22927 | (Get FASTA) | NCBI Sequence Viewer | |
| AAF22928 | (Get FASTA) | NCBI Sequence Viewer | |
| AAF22929 | (Get FASTA) | NCBI Sequence Viewer | |
| AAF22930 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI04726 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI05307 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI05642 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI05918 | (Get FASTA) | NCBI Sequence Viewer | |
| AAL24549 | (Get FASTA) | NCBI Sequence Viewer | |
| AAL24550 | (Get FASTA) | NCBI Sequence Viewer | |
| AAL24551 | (Get FASTA) | NCBI Sequence Viewer | |
| AAL24552 | (Get FASTA) | NCBI Sequence Viewer | |
| AAL24553 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG35423 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08595 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08596 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08597 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08598 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08599 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08600 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08601 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9UBN4 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001129430 ⟸ NM_001135958 |
| - Peptide Label: | isoform zeta |
| - UniProtKB: | Q9UBN4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAQFYYKRNVNAPYRDRIPLRIVRAESELSPSEKAYLNAVEKGDYASVKKSLEEAEIYFKININhide sequence |
| RefSeq Acc Id: | NP_001129428 ⟸ NM_001135956 |
| - Peptide Label: | isoform gamma |
| - UniProtKB: | Q9UBN4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAQFYYKRNVNAPYRDRIPLRIVRAESELSPSEKAYLNAVEKGDYASVKKSLEEAEIYFKININhide sequence |
| RefSeq Acc Id: | NP_001129429 ⟸ NM_001135957 |
| - Peptide Label: | isoform delta |
| - UniProtKB: | Q9UBN4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAQFYYKRNVNAPYRDRIPLRIVRAESELSPSEKAYLNAVEKGDYASVKKSLEEAEIYFKININhide sequence |
| RefSeq Acc Id: | NP_001129427 ⟸ NM_001135955 |
| - Peptide Label: | isoform beta |
| - UniProtKB: | Q9UBN4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAQFYYKRNVNAPYRDRIPLRIVRAESELSPSEKAYLNAVEKGDYASVKKSLEEAEIYFKININhide sequence |
| RefSeq Acc Id: | NP_057263 ⟸ NM_016179 |
| - Peptide Label: | isoform alpha |
| - UniProtKB: | Q9UBN4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAQFYYKRNVNAPYRDRIPLRIVRAESELSPSEKAYLNAVEKGDYASVKKSLEEAEIYFKININhide sequence |
| RefSeq Acc Id: | NP_003297 ⟸ NM_003306 |
| - Peptide Label: | isoform epsilon |
| - UniProtKB: | Q9UBN4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAQFYYKRNVNAPYRDRIPLRIVRAESELSPSEKAYLNAVEKGDYASVKKSLEEAEIYFKININhide sequence |
| RefSeq Acc Id: | XP_011533508 ⟸ XM_011535206 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MWDGGLQDYIHDWWNLMDFVMNSLYLATISLKIVAFVKYSALNPRESWDMWHPTLVAEALFAIAhide sequence |
| RefSeq Acc Id: | XP_016876212 ⟸ XM_017020723 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MWDGGLQDYIHDWWNLMDFVMNSLYLATISLKIVAFVKYSALNPRESWDMWHPTLVAEALFAIAhide sequence |
| RefSeq Acc Id: | NP_001341735 ⟸ NM_001354806 |
| - Peptide Label: | isoform eta |
| - Sequence: |
MWDGGLQDYIHDWWNLMDFVMNSLYLATISLKIVAFVKYSALNPRESWDMWHPTLVAEALFAIAhide sequence |
| RefSeq Acc Id: | NP_001341728 ⟸ NM_001354799 |
| - Peptide Label: | isoform eta |
| - Sequence: |
MWDGGLQDYIHDWWNLMDFVMNSLYLATISLKIVAFVKYSALNPRESWDMWHPTLVAEALFAIAhide sequence |
| RefSeq Acc Id: | NP_001358984 ⟸ NM_001372055 |
| - Peptide Label: | isoform eta |
Promoters| RGD ID: | 7226241 | |||||||||
| Promoter ID: | EPDNEW_H18867 | |||||||||
| Type: | initiation region | |||||||||
| Name: | TRPC4_2 | |||||||||
| Description: | transient receptor potential cation channel subfamily C member4 | |||||||||
| 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: | 7226249 | |||||||||
| Promoter ID: | EPDNEW_H18868 | |||||||||
| Type: | multiple initiation site | |||||||||
| Name: | TRPC4_1 | |||||||||
| Description: | transient receptor potential cation channel subfamily C member4 | |||||||||
| 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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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_016179.2(TRPC4):c.897+13546G>C | single nucleotide variant | Lung cancer [RCV000097889] | Chr13:37732391 [GRCh38] Chr13:38306528 [GRCh37] Chr13:13q13.3 |
uncertain significance |
| GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 | copy number gain | Scoliosis [RCV000050293]|See cases [RCV000050293] | Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3 |
pathogenic |
| GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051373]|See cases [RCV000051373] | Chr13:30697728..69471973 [GRCh38] Chr13:31271865..70046105 [GRCh37] Chr13:30169865..68944106 [NCBI36] Chr13:13q12.3-21.33 |
pathogenic |
| GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1 | copy number loss | Global developmental delay [RCV000051375]|See cases [RCV000051375] | Chr13:35232476..41375955 [GRCh38] Chr13:35806613..41950091 [GRCh37] Chr13:34704613..40848091 [NCBI36] Chr13:13q13.3-14.11 |
pathogenic |
| GRCh38/hg38 13q13.3(chr13:37210304-39034199)x1 | copy number loss | Nonsyndromic microcephaly [RCV000051376]|See cases [RCV000051376] | Chr13:37210304..39034199 [GRCh38] Chr13:37784441..39608336 [GRCh37] Chr13:36682441..38506336 [NCBI36] Chr13:13q13.3 |
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 13q12.3-31.1(chr13:30318913-83610426)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053737]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053737]|See cases [RCV000053737] | Chr13:30318913..83610426 [GRCh38] Chr13:30893050..84184561 [GRCh37] Chr13:29791050..83082562 [NCBI36] Chr13:13q12.3-31.1 |
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 |
| 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 13q13.2-34(chr13:33528097-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053759]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053759]|See cases [RCV000053759] | Chr13:33528097..114327173 [GRCh38] Chr13:34102234..115085141 [GRCh37] Chr13:33000234..114110750 [NCBI36] Chr13:13q13.2-34 |
pathogenic |
| NM_016179.2(TRPC4):c.2196C>T (p.Thr732=) | single nucleotide variant | Malignant melanoma [RCV000070353] | Chr13:37639055 [GRCh38] Chr13:38213192 [GRCh37] Chr13:37111192 [NCBI36] Chr13:13q13.3 |
not provided |
| NM_016179.2(TRPC4):c.1394G>A (p.Arg465Gln) | single nucleotide variant | Malignant melanoma [RCV000070354] | Chr13:37663710 [GRCh38] Chr13:38237847 [GRCh37] Chr13:37135847 [NCBI36] Chr13:13q13.3 |
not provided |
| NM_016179.2(TRPC4):c.640G>A (p.Glu214Lys) | single nucleotide variant | Malignant melanoma [RCV000070355] | Chr13:37746194 [GRCh38] Chr13:38320331 [GRCh37] Chr13:37218331 [NCBI36] Chr13:13q13.3 |
not provided |
| NM_016179.2(TRPC4):c.516C>T (p.His172=) | single nucleotide variant | Malignant melanoma [RCV000070356] | Chr13:37746318 [GRCh38] Chr13:38320455 [GRCh37] Chr13:37218455 [NCBI36] Chr13:13q13.3 |
not provided |
| NM_016179.2(TRPC4):c.515A>T (p.His172Leu) | single nucleotide variant | Malignant melanoma [RCV000070357] | Chr13:37746319 [GRCh38] Chr13:38320456 [GRCh37] Chr13:37218456 [NCBI36] Chr13:13q13.3 |
not provided |
| NM_016179.2(TRPC4):c.2595C>T (p.Phe865=) | single nucleotide variant | Malignant melanoma [RCV000062669] | Chr13:37637242 [GRCh38] Chr13:38211379 [GRCh37] Chr13:37109379 [NCBI36] Chr13:13q13.3 |
not provided |
| NM_016179.2(TRPC4):c.796G>A (p.Glu266Lys) | single nucleotide variant | Malignant melanoma [RCV000062670] | Chr13:37746038 [GRCh38] Chr13:38320175 [GRCh37] Chr13:37218175 [NCBI36] Chr13:13q13.3 |
not provided |
| NM_003306.2(TRPC4):c.523C>T (p.Arg175Cys) | single nucleotide variant | Malignant tumor of prostate [RCV000149147] | Chr13:37746311 [GRCh38] Chr13:38320448 [GRCh37] Chr13:13q13.3 |
pathogenic|uncertain significance |
| GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 | copy number loss | See cases [RCV000133696] | Chr13:36777318..62955876 [GRCh38] Chr13:37351455..63530009 [GRCh37] Chr13:36249455..62428010 [NCBI36] Chr13:13q13.3-21.31 |
pathogenic |
| 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 13q12.3-21.32(chr13:31553608-65470367)x3 | copy number gain | See cases [RCV000135808] | Chr13:31553608..65470367 [GRCh38] Chr13:32127745..66044499 [GRCh37] Chr13:31025745..64942500 [NCBI36] Chr13:13q12.3-21.32 |
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 13q12.11-14.11(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 |
| GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 | copy number loss | See cases [RCV000138723] | Chr13:31018160..48491204 [GRCh38] Chr13:31592297..49065340 [GRCh37] Chr13:30490297..47963341 [NCBI36] Chr13:13q12.3-14.2 |
pathogenic |
| GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 | copy number gain | See cases [RCV000138339] | Chr13:32531486..86757044 [GRCh38] Chr13:33105623..87409299 [GRCh37] Chr13:32003623..86207300 [NCBI36] Chr13:13q13.1-31.1 |
pathogenic |
| GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1 | copy number loss | See cases [RCV000139225] | Chr13:30313809..39267681 [GRCh38] Chr13:30887946..39841818 [GRCh37] Chr13:29785946..38739818 [NCBI36] Chr13:13q12.3-13.3 |
pathogenic |
| 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 |
| 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 13q13.3-21.32(chr13:37864226-67963788)x1 | copy number loss | See cases [RCV000140744] | Chr13:37864226..67963788 [GRCh38] Chr13:38438363..68537920 [GRCh37] Chr13:37336363..67435921 [NCBI36] Chr13:13q13.3-21.32 |
pathogenic |
| GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3 | copy number gain | See cases [RCV000142214] | Chr13:37156369..39010872 [GRCh38] Chr13:37730506..39585009 [GRCh37] Chr13:36628506..38483009 [NCBI36] Chr13:13q13.3 |
uncertain significance |
| GRCh38/hg38 13q13.3(chr13:37624898-38458496)x3 | copy number gain | See cases [RCV000142868] | Chr13:37624898..38458496 [GRCh38] Chr13:38199035..39032633 [GRCh37] Chr13:37097035..37930633 [NCBI36] Chr13:13q13.3 |
pathogenic |
| 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 |
| GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 | copy number gain | See cases [RCV000148244] | Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3 |
pathogenic |
| 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 |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 | copy number gain | See cases [RCV000240150] | Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
| GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1 | copy number loss | See cases [RCV000449219] | Chr13:36064105..39230796 [GRCh37] Chr13:13q13.3 |
likely pathogenic |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) | copy number gain | See cases [RCV000449142] | Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
| GRCh37/hg19 13q13.3(chr13:35531798-39607778)x1 | copy number loss | See cases [RCV000449245] | Chr13:35531798..39607778 [GRCh37] Chr13:13q13.3 |
likely pathogenic |
| GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 | copy number loss | See cases [RCV000446067] | Chr13:32946120..62698217 [GRCh37] Chr13:13q13.1-21.31 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | See cases [RCV000445886] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| t(5;13)(q22;q12.3)dn | translocation | not specified [RCV000714248] | Chr5:121617590..121617596 [GRCh37] Chr13:38326224..38326228 [GRCh37] Chr13:13q13.3 Chr5:5q23.2 |
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 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:12336 | AgrOrtholog |
| COSMIC | TRPC4 | COSMIC |
| Ensembl Genes | ENSG00000133107 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000342580 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000348025 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000351264 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000368995 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000369001 | UniProtKB/Swiss-Prot | |
| ENSP00000369027 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000410133 | UniProtKB/TrEMBL | |
| ENSP00000435969 | UniProtKB/Swiss-Prot | |
| ENSP00000486109 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000338947 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000355779 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000358477 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000379673 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000379679 | UniProtKB/Swiss-Prot | |
| ENST00000379705 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000426868 | UniProtKB/TrEMBL | |
| ENST00000488717 | UniProtKB/Swiss-Prot | |
| ENST00000625583 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 1.25.40.20 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000133107 | GTEx |
| HGNC ID | HGNC:12336 | ENTREZGENE |
| Human Proteome Map | TRPC4 | Human Proteome Map |
| InterPro | Ankyrin_rpt | UniProtKB/Swiss-Prot |
| Ankyrin_rpt-contain_dom | UniProtKB/Swiss-Prot | |
| Ankyrin_rpt-contain_sf | UniProtKB/Swiss-Prot | |
| Ion_trans_dom | UniProtKB/Swiss-Prot | |
| TRP_dom | UniProtKB/Swiss-Prot | |
| TRPC4_channel | UniProtKB/Swiss-Prot | |
| TRPC_channel | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:7223 | UniProtKB/Swiss-Prot |
| NCBI Gene | 7223 | ENTREZGENE |
| OMIM | 603651 | OMIM |
| PANTHER | PTHR10117 | UniProtKB/Swiss-Prot |
| PTHR10117:SF25 | UniProtKB/Swiss-Prot | |
| Pfam | Ion_trans | UniProtKB/Swiss-Prot |
| TRP_2 | UniProtKB/Swiss-Prot | |
| PharmGKB | PA37009 | PharmGKB |
| PRINTS | TRNSRECEPTRP | UniProtKB/Swiss-Prot |
| TRPCHANNEL4 | UniProtKB/Swiss-Prot | |
| PROSITE | ANK_REP_REGION | UniProtKB/Swiss-Prot |
| ANK_REPEAT | UniProtKB/Swiss-Prot | |
| SMART | ANK | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF48403 | UniProtKB/Swiss-Prot |
| UniGene | Hs.262960 | ENTREZGENE |
| UniProt | Q2M2U7_HUMAN | UniProtKB/TrEMBL |
| Q3KR50_HUMAN | UniProtKB/TrEMBL | |
| Q3MHB9_HUMAN | UniProtKB/TrEMBL | |
| Q9UBN4 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | B1ALE0 | UniProtKB/Swiss-Prot |
| B1ALE1 | UniProtKB/Swiss-Prot | |
| B1ALE2 | UniProtKB/Swiss-Prot | |
| Q15721 | UniProtKB/Swiss-Prot | |
| Q3SWS6 | UniProtKB/Swiss-Prot | |
| Q96P03 | UniProtKB/Swiss-Prot | |
| Q96P04 | UniProtKB/Swiss-Prot | |
| Q96P05 | UniProtKB/Swiss-Prot | |
| Q9UIB0 | UniProtKB/Swiss-Prot | |
| Q9UIB1 | UniProtKB/Swiss-Prot | |
| Q9UIB2 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-02 | TRPC4 | transient receptor potential cation channel subfamily C member 4 | transient receptor potential cation channel, subfamily C, member 4 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-09-01 | TRPC4 | transient receptor potential cation channel, subfamily C, member 4 | TRPC4 | transient receptor potential cation channel, subfamily C, member 4 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on TRPC4 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
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|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 733150 |
| Created: | 2004-01-12 |
| 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.
