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RAB4B RAB4B, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 53916, updated on 7-Jun-2020

Summary

Official Symbol
RAB4Bprovided by HGNC
Official Full Name
RAB4B, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:9782
See related
Ensembl:ENSG00000167578 MIM:612945
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
RAB proteins, such as RAB4B, are members of the RAS superfamily of small GTPases that are involved in vesicular trafficking (He et al., 2002 [PubMed 12450215]).[supplied by OMIM, Aug 2009]
Expression
Ubiquitous expression in brain (RPKM 18.9), spleen (RPKM 18.3) and 25 other tissues See more
Orthologs

Genomic context

See RAB4B in Genome Data Viewer
Location:
19q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (40778247..40796942)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41283670..41302849)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene chromosome 19 open reading frame 54 Neighboring gene small nuclear ribonucleoprotein polypeptide A Neighboring gene MIA-RAB4B readthrough (NMD candidate) Neighboring gene RAB4B-EGLN2 readthrough (NMD candidate) Neighboring gene MIA SH3 domain containing Neighboring gene egl-9 family hypoxia inducible factor 2 Neighboring gene cytochrome P450 family 2 subfamily T member 1, pseudogene

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

NHGRI GWAS Catalog

Description
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
NHGRI GWA Catalog
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough MIA-RAB4B

Readthrough gene: MIA-RAB4B, Included gene: MIA

Readthrough RAB4B-EGLN2

Readthrough gene: RAB4B-EGLN2, Included gene: EGLN2

Homology

Clone Names

  • FLJ78649, MGC52123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
glucose import IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
regulation of endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin-responsive compartment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin-responsive compartment IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ras-related protein Rab-4B
Names
ras-related GTP-binding protein 4b
small GTP binding protein RAB4B
NP_057238.3

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.

mRNA and Protein(s)

  1. NM_016154.5NP_057238.3  ras-related protein Rab-4B

    See identical proteins and their annotated locations for NP_057238.3

    Status: VALIDATED

    Source sequence(s)
    AI083750, BC046927, BG706803
    Consensus CDS
    CCDS33030.1
    UniProtKB/Swiss-Prot
    P61018
    UniProtKB/TrEMBL
    A0A024R0K8
    Related
    ENSP00000349560.2, ENST00000357052.8
    Conserved Domains (1) summary
    cd04113
    Location:9169
    Rab4; Rab GTPase family 4 (Rab4)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    40778247..40796942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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