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    RAB2B RAB2B, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 84932, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RAB2Bprovided by HGNC
    Official Full Name
    RAB2B, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:20246
    See related
    Ensembl:ENSG00000129472 MIM:607466; AllianceGenome:HGNC:20246
    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
    Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006]
    Expression
    Ubiquitous expression in bone marrow (RPKM 6.9), testis (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAB2B in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21459020..21476959, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15656403..15674328, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21927179..21945118, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene chromodomain helicase DNA binding protein 8 Neighboring gene eukaryotic translation initiation factor 4E binding protein 1 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 650, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21905321-21905864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8103 Neighboring gene Sharpr-MPRA regulatory region 12162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21910077-21910995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21920455-21920954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21924579-21925130 Neighboring gene uncharacterized LOC124903283 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21925131-21925682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8108 Neighboring gene TOX high mobility group box family member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8110 Neighboring gene methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8111 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21987519-21988018 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:21991711-21991897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21992413-21993240 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21994071-21994898 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:21994899-21995726 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:22002164-22003029 Neighboring gene spalt like transcription factor 2

    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. Molecular cloning and characterization of a novel human Rab ( Rab2B) gene. Ni X, et al. J Hum Genet, 2002. PMID 12376746
    2. miR‑448 targets Rab2B and is pivotal in the suppression of pancreatic cancer. Jin J, et al. Oncol Rep, 2018 Sep. PMID 30015954, Free PMC Article
    3. Small GTPase Rab2B and Its Specific Binding Protein Golgi-associated Rab2B Interactor-like 4 (GARI-L4) Regulate Golgi Morphology. Aizawa M, et al. J Biol Chem, 2015 Sep 4. PMID 26209634, Free PMC Article
    4. RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by Rab32 and Rab33B proteins. Nottingham RM, et al. J Biol Chem, 2011 Sep 23. PMID 21808068, Free PMC Article
    5. Cytoplasmic control of Rab family small GTPases through BAG6. Takahashi T, et al. EMBO Rep, 2019 Apr. PMID 30804014, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High RAB2B expression is associated with pancreatic cancer.
      Title: miR‑448 targets Rab2B and is pivotal in the suppression of pancreatic cancer.
    2. Data show that Rab2B and a Rab2B-specific effector, GARI-L4, regulate Golgi morphology.
      Title: Small GTPase Rab2B and Its Specific Binding Protein Golgi-associated Rab2B Interactor-like 4 (GARI-L4) Regulate Golgi Morphology.
    Submit: New GeneRIF Correction

    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

    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

    Homology

    Clone Names

    • FLJ14824

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in defense response to virus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in macroautophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of type I interferon production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in autophagosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ras-related protein Rab-2B
    Names
    GTP-binding protein RAB2B
    RAS family, member RAB2B
    NP_001156852.1
    NP_116235.2
    XP_016877201.1
    XP_047287765.1
    XP_054232793.1
    XP_054232794.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001163380.2 → NP_001156852.1  ras-related protein Rab-2B isoform 2

      See identical proteins and their annotated locations for NP_001156852.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK300599, AL161747, BC066366, BG535306
      UniProtKB/TrEMBL
      B4DUD4
      Conserved Domains (1) summary
      cl21455
      Location:1 → 124
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_032846.4 → NP_116235.2  ras-related protein Rab-2B isoform 1

      See identical proteins and their annotated locations for NP_116235.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL161747, BC020839, BC066366
      Consensus CDS
      CCDS9570.1
      UniProtKB/Swiss-Prot
      B2RD03, D3DS24, Q6NZ33, Q8WUD1
      UniProtKB/TrEMBL
      Q5HYI5
      Related
      ENSP00000380869.1, ENST00000397762.6
      Conserved Domains (1) summary
      PLN03108
      Location:1 → 216
      PLN03108; Rab family protein; Provisional

    RNA

    1. NR_028074.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region that results in a frameshift, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL161747, BC066366, CD634472

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      21459020..21476959 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021712.2 → XP_016877201.1  ras-related protein Rab-2B isoform X2

      Conserved Domains (1) summary
      cl21455
      Location:9 → 101
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_047431809.1 → XP_047287765.1  ras-related protein Rab-2B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      15656403..15674328 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376819.1 → XP_054232794.1  ras-related protein Rab-2B isoform X2

    2. XM_054376818.1 → XP_054232793.1  ras-related protein Rab-2B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUD1.1 GenPept UniProtKB/Swiss-Prot:Q8WUD1

    Gene LinkOut

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

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