CAVIN2 (caveolae associated protein 2)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8436
Gene name Gene Name - the full gene name approved by the HGNC.
Caveolae associated protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CAVIN2
Synonyms (NCBI Gene) Gene synonyms aliases
PS-p68, SDPR, SDR, cavin-2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q32.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606728 10690 ENSG00000168497
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 37291580
Breast Neoplasms Inhibit 26749136
Carcinoma Endometrioid Associate 30907484, 34655178
Carcinoma Hepatocellular Inhibit 27513662
Carcinoma Non Small Cell Lung Associate 31352804
Hirschsprung Disease Associate 25792468
Inflammatory Bowel Diseases Associate 37291580
Kidney Neoplasms Inhibit 22868251
Lymphatic Metastasis Associate 27513662
Neoplasm Metastasis Inhibit 37416765