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GNB4 G protein subunit beta 4 [ Homo sapiens (human) ]

Gene ID: 59345, updated on 25-Aug-2020

Summary

Official Symbol
GNB4provided by HGNC
Official Full Name
G protein subunit beta 4provided by HGNC
Primary source
HGNC:HGNC:20731
See related
Ensembl:ENSG00000114450 MIM:610863
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
CMTD1F
Summary
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in skin (RPKM 14.7), appendix (RPKM 12.1) and 24 other tissues See more
Orthologs

Genomic context

See GNB4 in Genome Data Viewer
Location:
3q26.33
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (179396088..179451470, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179113876..179169371, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 639 Neighboring gene mitofusin 1 Neighboring gene translation machinery-associated protein 7 pseudogene Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 7

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
Charcot-Marie-Tooth disease, dominant intermediate F
MedGen: C3554654 OMIM: 615185 GeneReviews: Not available
Compare labs
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein gamma-subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein folding TAS
Traceable Author Statement
more info
 
substantia nigra development HEP PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane HDA PubMed 

General protein information

Preferred Names
guanine nucleotide-binding protein subunit beta-4
Names
G protein beta-4 subunit
guanine nucleotide binding protein (G protein), beta polypeptide 4
transducin beta chain 4

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_033163.1 RefSeqGene

    Range
    5114..60496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021629.4NP_067642.1  guanine nucleotide-binding protein subunit beta-4

    See identical proteins and their annotated locations for NP_067642.1

    Status: REVIEWED

    Source sequence(s)
    AC007620
    Consensus CDS
    CCDS3230.1
    UniProtKB/Swiss-Prot
    Q9HAV0
    Related
    ENSP00000232564.3, ENST00000232564.8
    Conserved Domains (2) summary
    cd00200
    Location:48340
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    179396088..179451470 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713721.2XP_006713784.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

    See identical proteins and their annotated locations for XP_006713784.1

    UniProtKB/Swiss-Prot
    Q9HAV0
    Related
    ENSP00000501882.1, ENST00000676128.1
    Conserved Domains (2) summary
    cd00200
    Location:48340
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]
  2. XM_005247692.2XP_005247749.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

    See identical proteins and their annotated locations for XP_005247749.1

    UniProtKB/Swiss-Prot
    Q9HAV0
    Related
    ENSP00000502628.1, ENST00000674862.1
    Conserved Domains (2) summary
    cd00200
    Location:48340
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]
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