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CAVIN4 caveolae associated protein 4 [ Homo sapiens (human) ]

Gene ID: 347273, updated on 4-Oct-2020

Summary

Official Symbol
CAVIN4provided by HGNC
Official Full Name
caveolae associated protein 4provided by HGNC
Primary source
HGNC:HGNC:33742
See related
Ensembl:ENSG00000170681 MIM:617714
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MURC; cavin-4
Summary
This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]
Expression
Biased expression in heart (RPKM 18.1), prostate (RPKM 5.6) and 2 other tissues See more
Orthologs

Genomic context

See CAVIN4 in Genome Data Viewer
Location:
9q31.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (100578079..100588389)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (103340361..103350671)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene MSANTD3-TMEFF1 readthrough Neighboring gene Myb/SANT DNA binding domain containing 3 Neighboring gene transmembrane protein with EGF like and two follistatin like domains 1 Neighboring gene RN7SK pseudogene 87 Neighboring gene Sharpr-MPRA regulatory region 4026 Neighboring gene actin gamma 1 pseudogene 19

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46372

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
caveola IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
caveola IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
caveolae-associated protein 4
Names
muscle related coiled-coil protein
muscle-restricted coiled-coil protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033273.1 RefSeqGene

    Range
    5001..15311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_760

mRNA and Protein(s)

  1. NM_001018116.2NP_001018126.1  caveolae-associated protein 4

    See identical proteins and their annotated locations for NP_001018126.1

    Status: REVIEWED

    Source sequence(s)
    AA446953, AK300099, AL354917, BC090888, EU487253
    Consensus CDS
    CCDS35083.1
    UniProtKB/Swiss-Prot
    Q5BKX8
    Related
    ENSP00000418668.1, ENST00000307584.6
    Conserved Domains (1) summary
    pfam15237
    Location:28264
    PTRF_SDPR; PTRF/SDPR family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    100578079..100588389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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