RAB2A RAB2A, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB2Aprovided by HGNC
Official Full Name: RAB2A, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9763
See related: Ensembl:ENSG00000104388 MIM:179509; AllianceGenome:HGNC:9763
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: LHX; RAB2
Summary: The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in brain (RPKM 44.0), thyroid (RPKM 43.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q12.1-q12.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (60516910..60623644)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (60940688..61047387)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (61429469..61536203)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Integration of risk variants from GWAS with SARS-CoV-2 RNA interactome prioritizes FUBP1 and RAB2A as risk genes for COVID-19.
Title: Integration of risk variants from GWAS with SARS-CoV-2 RNA interactome prioritizes FUBP1 and RAB2A as risk genes for COVID-19.
RAB2A promotes cervical cancer progression as revealed by comprehensive analysis of HPV integration and proteome in longitudinal cervical samples.
Title: RAB2A promotes cervical cancer progression as revealed by comprehensive analysis of HPV integration and proteome in longitudinal cervical samples.
RAB2 regulates the formation of autophagosome and autolysosome in mammalian cells.
Title: RAB2 regulates the formation of autophagosome and autolysosome in mammalian cells.
Bioinformatics were used to determine the target gene of miR192 and Rasrelated protein Rab2A (RAB2A) was identified as a downstream target of miR192. Following the determination of the role of the miR192RAB2A pathway in colon cancer, small molecules that may regulate miR192 were screened and the results demonstrated that simvastatin is an activator of miR192.
Title: MicroRNA‑192 acts as a tumor suppressor in colon cancer and simvastatin activates miR‑192 to inhibit cancer cell growth.
S100A7 affects cell motility and invasion by regulating the RAB2A-associated MAPK signaling cascades.
Title: S100A7 has an oncogenic role in oral squamous cell carcinoma by activating p38/MAPK and RAB2A signaling pathway.
Identify Rab2 as a key factor for autophagic and endocytic cargo delivery to and degradation in lysosomes.
Title: Rab2 promotes autophagic and endocytic lysosomal degradation.
our data reveal that RAB2A is new critical membrane trafficking players in the regulation of mesenchymal properties of normal and tumorigenic cells and a critical determinant of an invasive, proteolytic mode of BC progression.
Title: RAB2A controls MT1-MMP endocytic and E-cadherin polarized Golgi trafficking to promote invasive breast cancer programs.
RAB2A variance has effect on the structure and function of the PFC and related cognitive functions.
Title: RAB2A Polymorphism impacts prefrontal morphology, functional connectivity, and working memory.
This study demonstrated that RAB2A mutation showing the highest statistical significance in Autism and Schizophrenia.
Title: De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
The immunohistochemistry-based validation using tissue microarray slides in oral squamous cell carcinoma revealed overexpression of the RAB2A and PRDX1 gene in 80 and 68 % of the tested clinical cases, respectively.
Title: Identification of RAB2A and PRDX1 as the potential biomarkers for oral squamous cell carcinoma using mass spectrometry-based comparative proteomic approach.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of RAB2A, member RAS oncogene family (RAB2A) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1929 (e-PCR)
- UniSTS:76818

RH92689 (e-PCR)
- UniSTS:92717

D8S1899 (e-PCR)
- UniSTS:22645

RAB2_2543 (e-PCR)
- UniSTS:280950

D8S1405E (e-PCR)
- UniSTS:151199

D8S1613 (e-PCR)
- UniSTS:79309

RH70011 (e-PCR)
- UniSTS:5095

SHGC-31082 (e-PCR)
- UniSTS:80886

D8S1394E (e-PCR)
- UniSTS:45049

STS-R00195 (e-PCR)
- UniSTS:16383

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in macroautophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in autophagosome membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: ras-related protein Rab-2A

Names: RAB2, member RAS oncogene family; small GTP binding protein RAB2A

NP_001229573.1

EC 3.6.5.2

NP_002856.1

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.

mRNA and Protein(s)

NM_001242644.1 → NP_001229573.1 ras-related protein Rab-2A isoform b

See identical proteins and their annotated locations for NP_001229573.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. This results in a shorter isoform (b) missing an internal protein segment compared to isoform a.

Source sequence(s)

AC068389, AK297576, AW301641, DA648682

Consensus CDS

CCDS56537.1

UniProtKB/TrEMBL

A0A0A1HAW1

Related

ENSP00000431846.1, ENST00000531289.5

Conserved Domains (1) summary

PLN03108
Location:1 → 164

PLN03108; Rab family protein; Provisional
NM_002865.3 → NP_002856.1 ras-related protein Rab-2A isoform a

See identical proteins and their annotated locations for NP_002856.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (a).

Source sequence(s)

AC068389, AW301641, DA648682, X12953

Consensus CDS

CCDS6175.1

UniProtKB/Swiss-Prot

B2R5W8, B4DMQ5, P08886, P61019

UniProtKB/TrEMBL

A0A0A1HAW1

Related

ENSP00000262646.7, ENST00000262646.12

Conserved Domains (1) summary

PLN03108
Location:1 → 188

PLN03108; Rab family protein; Provisional