CAVIN2 (caveolae associated protein 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 8436
Gene name Caveolae associated protein 2
Gene symbol CAVIN2
Synonyms (NCBI Gene)
PS-p68SDPRSDRcavin-2
Chromosome 2
Chromosome location 2q32.3
Summary This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) t
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IDA 2390065, 10191091
GO:0005080 Function Protein kinase C binding IBA
GO:0005515 Function Protein binding IPI 19262564, 19525939, 19722192, 24013648, 24567387, 25416956, 32296183
GO:0005543 Function Phospholipid binding TAS 10191091
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606728 10690 ENSG00000168497
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95810
Protein name Caveolae-associated protein 2 (Cavin-2) (PS-p68) (Phosphatidylserine-binding protein) (Serum deprivation-response protein)
Protein function Plays an important role in caveolar biogenesis and morphology. Regulates caveolae morphology by inducing membrane curvature within caveolae (PubMed:19525939). Plays a role in caveola formation in a tissue-specific manner. Required for the format
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15237 PTRF_SDPR 52 → 294 PTRF/SDPR family Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart and lung, and expressed at lower levels in brain, kidney, liver, pancreas, placenta, and skeletal muscle. {ECO:0000269|PubMed:10191091}.
Sequence 
MGEDAAQAEKFQHPGSDMRQEKPSSPSPMPSSTPSPSLNLGNTEEAIRDNSQVNAVTVLT
LLDKLVNMLDAVQENQHKMEQRQISLEGSVKGIQNDLTKLSKYQASTSNTVSKLLEKSRK
VSAHTRAVKERMDRQCAQVKRLENNHAQLLRRNHFKVLIFQEENEIPASVFVKQPVSGAV
EGKEELPDENKSLEETLHTVDLSSDDDLPHDEEALEDSAEEKVEESRAEKIKRSSLKKVD
SLKKAFSRQNIEKKMNKLGTKIVSVERREKIKKSLTSNHQKISSGKSSPFKVSPLTFGRK
KVREGESHAENETKSEDLPSSEQMPNDQEEESFAEGHSEASLASALVEGEIAEEAAEKAT
SRGSNSGMDSNIDLTIVEDEEEESVALEQAQKVRYEGSYALTSEEAERSDGDPVQPAVLQ
VHQTS
Sequence length 425
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (4)
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
HIRSCHSPRUNG DISEASE — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (52)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31322248
★★★★★
★☆☆☆☆
Found in Text Mining only
Aganglionosis, Colonic Colonic Aganglionosis CTD_human_DG 25792468
★★★★★
★☆☆☆☆
Found in Text Mining only
Aganglionosis, Rectosigmoid Colon Colonic Aganglionosis CTD_human_DG 25792468
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 37291580 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21913217, 26739564
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26749136 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Endometrioid Endometrioid carcinoma Pubtator 30907484, 34655178 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27513662 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31322248, 31352804
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Endometrioid Endometrioid cancer BEFREE 30907484
★★★★★
★☆☆☆☆
Found in Text Mining only