Gene Gene information from NCBI Gene database.
Entrez ID 27092
Gene name Calcium voltage-gated channel auxiliary subunit gamma 4
Gene symbol CACNG4
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q24.2
Summary The protein encoded by this gene is a type I 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 the
miRNA miRNA information provided by mirtarbase database.
354
miRTarBase ID miRNA Experiments Reference
MIRT017598 hsa-miR-335-5p Microarray 18185580
MIRT858086 hsa-miR-1 CLIP-seq
MIRT858087 hsa-miR-105 CLIP-seq
MIRT858088 hsa-miR-1243 CLIP-seq
MIRT858089 hsa-miR-1270 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IBA
GO:0005245 Function Voltage-gated calcium channel activity IEA
GO:0005246 Function Calcium channel regulator activity IDA 21127204
GO:0005262 Function Calcium channel activity IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606404 1408 ENSG00000075461
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBN1
Protein name Voltage-dependent calcium channel gamma-4 subunit (Neuronal voltage-gated calcium channel gamma-4 subunit) (Transmembrane AMPAR regulatory protein gamma-4) (TARP gamma-4)
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), including GRIA1 and GRIA4. Promotes
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 6 202 PMP-22/EMP/MP20/Claudin family Family
Tissue specificity TISSUE SPECIFICITY: Detected in heart left ventricle. {ECO:0000269|PubMed:21127204}.
Sequence
Sequence length 327
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 37747033, 38291367 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 27602771 Associate
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma GWASCAT_DG 29594489
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 27102562
★★☆☆☆
Found in Text Mining + Unknown/Other Associations