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

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; AllianceGenome:HGNC:9782
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: Predicted to enable G protein activity and GTP binding activity. Involved in glucose import. Located in insulin-responsive compartment; perinuclear region of cytoplasm; and recycling endosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 18.9), spleen (RPKM 18.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (40778247..40796942)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (43598926..43617621)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41284152..41302847)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the obesity-induced loss of Rab4b in adipose T cells may contribute to maladaptive white adipose tissue remodeling and insulin resistance by altering adipose T cell fate.
Title: Rab4b Deficiency in T Cells Promotes Adipose Treg/Th17 Imbalance, Adipose Tissue Dysfunction, and Insulin Resistance.
knockdown of RAB4B reduces the release of intact virion particles, suggesting that it plays a role in virion assembly and egress.
Title: Identification of Host Factors Involved in Human Cytomegalovirus Replication, Assembly, and Egress Using a Two-Step Small Interfering RNA Screen.
real-time RT-PCR assays showed that expressions of MIA and MIA-RAB4B located 35 kb upstream of the deletion, were up-regulated in the polyps compared to the matched mucosa of the proband. MIA-RAB4B, the read-through long non-coding RNA (lncRNA), RAB4B, PIM2 and TAOK1 share common binding site of a microRNA, miR-24, in their 3'UTRs
Title: Chromosome 19q13 disruption alters expressions of CYP2A7, MIA and MIA-RAB4B lncRNA and contributes to FAP-like phenotype in APC mutation-negative familial colorectal cancer patients.
Interaction between Rab4b and AP1gamma allows the budding of clathrin-coated vesicles for subsequent traffic to recycling endosomes.
Title: Rab4b controls an early endosome sorting event by interacting with the γ-subunit of the clathrin adaptor complex 1.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Data conclude that Rab4b is a new important player in the control of GLUT4 trafficking in adipocyte.
Title: Rab4b is a small GTPase involved in the control of the glucose transporter GLUT4 localization in adipocyte.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

MARC_3317-3318:991937016:1 (e-PCR)
- UniSTS:231011

D15S1477 (e-PCR)
- UniSTS:474482

D11S3114 (e-PCR)
- UniSTS:152207

D17S610 (e-PCR)
- UniSTS:46230

Readthrough MIA-RAB4B

Readthrough gene: MIA-RAB4B, Included gene: MIA

Readthrough RAB4B-EGLN2

Readthrough gene: RAB4B-EGLN2, Included gene: EGLN2

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein activity	IEA Inferred from Electronic Annotation more info
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rab protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in glucose import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of endocytosis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
is_active_in insulin-responsive compartment	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in insulin-responsive compartment	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in recycling endosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ras-related protein Rab-4B

Names: ras-related GTP-binding protein 4b; small GTP binding protein RAB4B

NP_057238.3

EC 3.6.5.2

NCBI Reference Sequences (RefSeq)

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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.