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

Gene ID: 84932, updated on 11-Apr-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
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Genomic context

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Location:
14q11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21459020..21476959, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15656403..15674328, complement)
105.20220307 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. 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
  2. Molecular cloning and characterization of a novel human Rab ( Rab2B) gene. Ni X, et al. J Hum Genet, 2002. PMID 12376746
  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 (35) 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)

Genotypes

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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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_2023_10

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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