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

    Gene ID: 5862, updated on 3-Nov-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
    mouse all
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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_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_000008.11Genomic 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 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. RAB2 regulates the formation of autophagosome and autolysosome in mammalian cells. Ding X, et al. Autophagy, 2019 Oct. PMID 30957628, Free PMC Article
    2. Identification of a Brucella spp. secreted effector specifically interacting with human small GTPase Rab2. de Barsy M, et al. Cell Microbiol, 2011 Jul. PMID 21501366
    3. 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
    4. Nucleotide sequence of a new YPT1-related human cDNA which belongs to the ras gene superfamily. Tachibana K, et al. Nucleic Acids Res, 1988 Nov 11. PMID 3057444, Free PMC Article
    5. 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

    See all (124) 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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