Gene Gene information from NCBI Gene database.
Entrez ID 59284
Gene name Calcium voltage-gated channel auxiliary subunit gamma 7
Gene symbol CACNG7
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.42
Summary The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of th
miRNA miRNA information provided by mirtarbase database.
115
miRTarBase ID miRNA Experiments Reference
MIRT508852 hsa-miR-224-5p PAR-CLIP 20371350
MIRT508851 hsa-miR-580-5p PAR-CLIP 20371350
MIRT508850 hsa-miR-1272 PAR-CLIP 20371350
MIRT508849 hsa-miR-3682-3p PAR-CLIP 20371350
MIRT508848 hsa-miR-3161 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IBA
GO:0005245 Function Voltage-gated calcium channel activity NAS 11170751
GO:0005246 Function Calcium channel regulator activity IDA 21127204
GO:0005262 Function Calcium channel activity IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606899 13626 ENSG00000105605
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62955
Protein name Voltage-dependent calcium channel gamma-7 subunit (Neuronal voltage-gated calcium channel gamma-7 subunit) (Transmembrane AMPAR regulatory protein gamma-7) (TARP gamma-7)
Protein function Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cel
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13903 Claudin_2 18 197 PMP-22/EMP/MP20/Claudin tight junction Family
Tissue specificity TISSUE SPECIFICITY: Detected in heart left ventricle (PubMed:21127204). Widely expressed. {ECO:0000269|PubMed:11170751, ECO:0000269|PubMed:21127204}.
Sequence
Sequence length 275
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely pathogenic rs778171763 RCV001291077
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 23428843
Cardiomyopathies Inhibit 20090424
Intellectual Disability Associate 30167849