AutismKB 2.0

Annotation Details for CAV3


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Basic Information Top
Gene Symbol:CAV3 ( LGMD1C,LQT9,MGC126100,MGC126101,MGC126129,VIP-21,VIP21 )
Gene Full Name: caveolin 3
Band: 3p25.3
Quick LinksEntrez ID:859; OMIM: 601253; Uniprot ID:CAV3_HUMAN; ENSEMBL ID: ENSG00000182533; HGNC ID: 1529
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005783IDA-endoplasmic reticulum22792322
GO:0005886IDA-plasma membrane17060380
GO:0005886TAS-plasma membrane-
GO:0005901ISS-caveola-
GO:0009986IEA-cell surface-
GO:0014704IEA-intercalated disc-
GO:0016010IDA-dystrophin-associated glycoprotein complex10988290
GO:0030018ISScolocalizes_withZ disc-
GO:0030315ISS-T-tubule-
GO:0031594ISS-neuromuscular junction-
GO:0031982IEA-vesicle-
GO:0042383IDA-sarcolemma12847114
GO:0043231IDA-intracellular membrane-bounded organelle-
GO:0045121ISS-membrane raft-
GO ID Evidence Qualifier GO_term References
GO:0005246IDA-calcium channel regulator activity21084288
GO:0005515IPI-protein binding10988290
GO:0008022IDA-protein C-terminus binding10988290
GO:0017080IDA-sodium channel regulator activity17060380
GO:0017080IMP-sodium channel regulator activity17275750
GO:0019870ISS-potassium channel inhibitor activity22879586
GO:0032403IDA-protein complex binding10988290
GO:0032947IPI-protein complex scaffold17060380
GO:0032947ISS-protein complex scaffold-
GO:0043014IEA-alpha-tubulin binding-
GO:0044325IPI-ion channel binding17060380
GO:0050998IEA-nitric-oxide synthase binding-
GO:0071253IDA-connexin binding19544087
GO ID Evidence Qualifier GO_term References
GO:0001778IEA-plasma membrane repair-
GO:0002027IMP-regulation of heart rate17060380
GO:0006469ISS-negative regulation of protein kinase activity-
GO:0006641ISS-triglyceride metabolic process-
GO:0006897ISS-endocytosis-
GO:0006936TAS-muscle contraction-
GO:0007009ISS-plasma membrane organization-
GO:0007015IEA-actin filament organization-
GO:0007204ISS-positive regulation of cytosolic calcium ion concentration-
GO:0007517TAS-muscle organ development10988290
GO:0007520IEA-myoblast fusion-
GO:0008016ISS-regulation of heart contraction-
GO:0008104ISS-protein localization-
GO:0008284IEA-positive regulation of cell proliferation-
GO:0010614IMP-negative regulation of cardiac muscle hypertrophy12847114
GO:0010831IEA-positive regulation of myotube differentiation-
GO:0014819IMP-regulation of skeletal muscle contraction17524427
GO:0016049ISS-cell growth-
GO:0017015IEA-regulation of transforming growth factor beta receptor signaling pathway-
GO:0030154ISS-cell differentiation-
GO:0031116ISS-positive regulation of microtubule polymerization-
GO:0031122IEA-cytoplasmic microtubule organization-
GO:0031579ISS-membrane raft organization-
GO:0033292TAS-T-tubule organization12847114
GO:0035995IEA-detection of muscle stretch-
GO:0038009IMP-regulation of signal transduction by receptor internalization20472890
GO:0042391IDA-regulation of membrane potential21084288
GO:0042593ISS-glucose homeostasis-
GO:0042632ISS-cholesterol homeostasis-
GO:0043407IMP-negative regulation of MAP kinase activity12847114
GO:0043409ISS-negative regulation of MAPK cascade-
GO:0045792IMP-negative regulation of cell size12847114
GO:0046716ISS-muscle cell cellular homeostasis-
GO:0051001ISS-negative regulation of nitric-oxide synthase activity-
GO:0051394IMP-regulation of nerve growth factor receptor activity20472890
GO:0051647IEA-nucleus localization-
GO:0051896IEA-regulation of protein kinase B signaling-
GO:0051926IDA-negative regulation of calcium ion transport21084288
GO:0055013IEA-cardiac muscle cell development-
GO:0055117IMP-regulation of cardiac muscle contraction17275750
GO:0060299IMP-negative regulation of sarcomere organization12847114
GO:0060307IMP-regulation of ventricular cardiac muscle cell membrane repolarization17060380
GO:0060347IEA-heart trabecula formation-
GO:0060373IDA-regulation of ventricular cardiac muscle cell membrane depolarization17060380
GO:0060762IEA-regulation of branching involved in mammary gland duct morphogenesis-
GO:0061052IEA-negative regulation of cell growth involved in cardiac muscle cell development-
GO:0070836IDA-caveola assembly18936328
GO:0072659ISS-protein localization to plasma membrane-
GO:0086005ISS-ventricular cardiac muscle cell action potential22879586
GO:0090002IEA-establishment of protein localization to plasma membrane-
GO:0090279IDA-regulation of calcium ion import21084288
GO:0098909IMP-regulation of cardiac muscle cell action potential involved in regulation of contraction17060380
GO:1900744IEA-regulation of p38MAPK cascade-
GO:1900825IMP-regulation of membrane depolarization during cardiac muscle cell action potential17275750
GO:1900826IEA-negative regulation of membrane depolarization during cardiac muscle cell action potential-
GO:1901017ISS-negative regulation of potassium ion transmembrane transporter activity22879586
GO:1901019IDA-regulation of calcium ion transmembrane transporter activity21084288
GO:1901380ISS-negative regulation of potassium ion transmembrane transport22879586
GO:2000009NAS-negative regulation of protein localization to cell surface22879586
GO:2000060NAS-positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process22879586
GO:2000649IDA-regulation of sodium ion transmembrane transporter activity17060380
GO:2001288IEA-positive regulation of caveolin-mediated endocytosis-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PFKMCAV31112349252390 Affinity Capture-Western
PFKMCAV31073079252390 Affinity Capture-Western
EGFRCAV31073079374534 Affinity Capture-Western; Reconstituted Complex
EGFRCAV31082769374534 Affinity Capture-Western; Reconstituted Complex
PDGFRACAV310730710066366 Reconstituted Complex
PDGFRACAV311118210066366 Reconstituted Complex
PDGFRBCAV311118510066366 Reconstituted Complex
PDGFRBCAV310730710066366 Reconstituted Complex
DAG1CAV310797510988290 Affinity Capture-Western; Co-fractionation; Reconstituted Complex
DAG1CAV310730710988290 Affinity Capture-Western; Co-fractionation; Reconstituted Complex
DYSFCAV311389611532985 Affinity Capture-Western
DYSFCAV310730711532985 Affinity Capture-Western
SLC8A1CAV311243611821059 Affinity Capture-Western
SLC8A1CAV310730711821059 Affinity Capture-Western
JPH2CAV312141415541368 Affinity Capture-Western
JPH2CAV310730715541368 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
CAV3rs1008642 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:107570
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-050522-426'