Gene Gene information from NCBI Gene database.
Entrez ID 10755
Gene name GIPC PDZ domain containing family member 1
Gene symbol GIPC1
Synonyms (NCBI Gene)
C19orf3GIPCGLUT1CBPHs.6454IIP-1NIPOPDM2RGS19IP1SEMCAPSYNECTIINSYNECTINTIP-2
Chromosome 19
Chromosome location 19p13.12
Summary GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]
miRNA miRNA information provided by mirtarbase database.
220
miRTarBase ID miRNA Experiments Reference
MIRT040897 hsa-miR-18a-3p CLASH 23622248
MIRT614987 hsa-miR-1470 HITS-CLIP 23824327
MIRT614986 hsa-miR-4667-3p HITS-CLIP 23824327
MIRT614985 hsa-miR-660-3p HITS-CLIP 23824327
MIRT614984 hsa-miR-370-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding ISS
GO:0005102 Function Signaling receptor binding IPI 15459234
GO:0005515 Function Protein binding IPI 9770488, 11441007, 11546783, 16908842, 21291857, 29467281, 32296183, 32814053, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605072 1226 ENSG00000123159
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14908
Protein name PDZ domain-containing protein GIPC1 (GAIP C-terminus-interacting protein) (RGS-GAIP-interacting protein) (RGS19-interacting protein 1) (Synectin) (Tax interaction protein 2) (TIP-2)
Protein function May be involved in G protein-linked signaling.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 133 212 PDZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:9770488). Expressed in skeletal muscle (at protein level) (PubMed:32413282). {ECO:0000269|PubMed:32413282, ECO:0000269|PubMed:9770488}.
Sequence
MPLGLGRRKKAPPLVENEEAEPGRGGLGVGEPGPLGGGGSGGPQMGLPPPPPALRPRLVF
HTQLAHGSPTGRIEGFTNVKELYGKIAEAFRLPTAEVMFCTLNTHKVDMDKLLGGQIGLE
DFIFAHVKGQRKEVEVFKSEDALGLTITDNGAGYAFIKRIKEGSVIDHIHLISVGDMIEA
INGQSLLGCRHYEVARLLKELPRGRTFTLKLT
EPRKAFDMISQRSAGGRPGSGPQLGTGR
GTLRLRSRGPATVEDLPSAFEEKAIEKVDDLLESYMGIRDTELAATMVELGKDKRNPDEL
AEALDERLGDFAFPDEFVFDVWGAIGDAKVGRY
Sequence length 333
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
BLADDER CALCULUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULOPHARYNGODISTAL MYOPATHY Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
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
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 19509165
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 10198040
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 28711793
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31664117
★☆☆☆☆
Found in Text Mining only
Bradyarrhythmia (disorder) Bradyarrhythmia BEFREE 30764634
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19509165, 21047775
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18721484, 18721486, 21209904, 26757732, 34272498 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 21209904 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 11956658
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 21209904
★☆☆☆☆
Found in Text Mining only