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RAB39B RAB39B, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 116442, updated on 4-Sep-2021

Summary

Official Symbol
RAB39Bprovided by HGNC
Official Full Name
RAB39B, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:16499
See related
Ensembl:ENSG00000155961 MIM:300774
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
WSN; BGMR; WSMN; MRX72; XLID72
Summary
This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]
Expression
Biased expression in brain (RPKM 8.4), lymph node (RPKM 3.0) and 11 other tissues See more
Orthologs
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Genomic context

See RAB39B in Genome Data Viewer
Location:
Xq28
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (155258235..155264491, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154487520..154493776, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene int1h-2 recombination region Neighboring gene Sharpr-MPRA regulatory region 7862 Neighboring gene VHL binding protein 1 Neighboring gene chloride intracellular channel 2 Neighboring gene twinfilin 1 pseudogene 2 Neighboring gene PHD finger protein 10 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-05-29)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-05-29)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
 
enables myosin V binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Rab protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in synapse organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ras-related protein Rab-39B
Names
Waisman syndrome (basal ganglion disorder with mental retardation)

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.

Genomic

  1. NG_012626.2 RefSeqGene

    Range
    5071..11327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_171998.4NP_741995.1  ras-related protein Rab-39B

    See identical proteins and their annotated locations for NP_741995.1

    Status: REVIEWED

    Source sequence(s)
    AL834460, BC009714, BM721593, H30898
    Consensus CDS
    CCDS14766.1
    UniProtKB/Swiss-Prot
    Q96DA2
    Related
    ENSP00000358466.3, ENST00000369454.4
    Conserved Domains (1) summary
    cd04111
    Location:7213
    Rab39; Rab GTPase family 39 (Rab39)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    155258235..155264491 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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