CAVIN3 (caveolae associated protein 3)

Gene

• Entrez ID: 112464
• Gene name: Caveolae associated protein 3
• Gene symbol: CAVIN3
• Synonyms (NCBI Gene): HSRBC, PRKCDBP, SRBC, cavin-3
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-re

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005080	Function	Protein kinase C binding	IBA
GO:0005080	Function	Protein kinase C binding	IEA
GO:0005515	Function	Protein binding	IPI	19262564, 24013648, 25416956, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005901	Component	Caveola	IBA
GO:0005901	Component	Caveola	IDA	19525939, 24013648
GO:0005901	Component	Caveola	IEA
GO:0016020	Component	Membrane	IEA
GO:0030866	Process	Cortical actin cytoskeleton organization	IEA
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0032991	Component	Protein-containing complex	IDA	24013648
GO:0048511	Process	Rhythmic process	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:1901003	Process	Negative regulation of fermentation	IEA

Other IDs

• MIM: 618303
• HGNC: 9400
• e!Ensembl: ENSG00000170955

Protein

• UniProt ID: Q969G5
• Protein name: Caveolae-associated protein 3 (Cavin-3) (Protein kinase C delta-binding protein) (Serum deprivation response factor-related gene product that binds to C-kinase) (hSRBC)
• Protein function: Regulates the traffic and/or budding of caveolae (PubMed:19262564). Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in smooth muscle but not in the lung and heart endothelial cells. Regulates
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15237	PTRF_SDPR	19 → 229	PTRF/SDPR family	Family

• Tissue specificity: TISSUE SPECIFICITY: Skeletal muscle, liver, stomach, lung, kidney and heart (at protein level). Strongly expressed in mammary and epithelial cells. {ECO:0000269|PubMed:11691816, ECO:0000269|PubMed:19262564}.
• Sequence:

  MRESALERGPVPEAPAGGPVHAVTVVTLLEKLASMLETLRERQGGLARRQGGLAGSVRRI
  QSGLGALSRSHDTTSNTLAQLLAKAERVSSHANAAQERAVRRAAQVQRLEANHGLLVARG
  KLHVLLFKEEGEVPASAFQKAPEPLGPADQSELGPEQLEAEVGESSDEEPVESRAQRLRR
  TGLQKVQSLRRALSGRKGPAAPPPTPVKPPRLGPGRSAEAQPEAQPALEPTLEPEPPQDT
  EEDPGRPGAAEEALLQMESVA

• Sequence length: 261

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Associate	32862598, 32945503	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	23118876, 25986046	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	35224960, 36696967	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	24273214	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Associate	27721187	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Associate	27721187	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Inhibit	23118876	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	20423276	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	34142659, 35224960	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	21314941	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Associate	20423276	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Inhibit	20423276	★☆☆☆☆ Found in Text Mining only