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

Gene ID: 5862, updated on 11-Apr-2024

Summary

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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
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Genomic context

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See RAB2A in Genome Data Viewer
Location:
8q12.1-q12.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (60516910..60623644)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (60940688..61047387)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (61429469..61536203)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27422 Neighboring gene long intergenic non-protein coding RNA 1301 Neighboring gene Sharpr-MPRA regulatory region 15457 Neighboring gene uncharacterized LOC124901949 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:61428694-61429554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27423 Neighboring gene uncharacterized LOC124901950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19225 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:61563068-61563273 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:61564220-61564720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27425 Neighboring gene chromodomain helicase DNA binding protein 7 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:61693034-61694233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27428

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. RAB2A promotes cervical cancer progression as revealed by comprehensive analysis of HPV integration and proteome in longitudinal cervical samples. Meng Y, et al. Clin Transl Med, 2022 Mar. PMID 35343109, Free PMC Article
  2. RAB2 regulates the formation of autophagosome and autolysosome in mammalian cells. Ding X, et al. Autophagy, 2019 Oct. PMID 30957628, Free PMC Article
  3. RAB2A controls MT1-MMP endocytic and E-cadherin polarized Golgi trafficking to promote invasive breast cancer programs. Kajiho H, et al. EMBO Rep, 2016 Jul. PMID 27255086, Free PMC Article
  4. RAB2A Polymorphism impacts prefrontal morphology, functional connectivity, and working memory. Li J, et al. Hum Brain Mapp, 2015 Nov. PMID 26249043, Free PMC Article
  5. Molecular structure of the Brucella abortus metalloprotein RicA, a Rab2-binding virulence effector. Herrou J, et al. Biochemistry, 2013 Dec 17. PMID 24251537, Free PMC Article

See all (109) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. RAB2 regulates the formation of autophagosome and autolysosome in mammalian cells.
    Title: RAB2 regulates the formation of autophagosome and autolysosome in mammalian cells.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 PubMed 
located_in lysosomal membrane HDA PubMed 
located_in melanosome IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus HDA 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
NP_002856.1

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)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    60516910..60623644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    60940688..61047387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P61019.1 GenPept UniProtKB/Swiss-Prot:P61019

Gene LinkOut

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