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

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; AllianceGenome:HGNC:16499
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: mouse all
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Genomic context

Location:: Xq28

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (155258235..155264491, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (153495543..153501799, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (154487520..154493776, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder.
Title: Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder.
Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating alpha-Synuclein.
Title: Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating α-Synuclein.
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
Title: Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
RAB39B is redistributed in dementia with Lewy bodies and is sequestered within abeta plaques and Lewy bodies.
Title: RAB39B is redistributed in dementia with Lewy bodies and is sequestered within aβ plaques and Lewy bodies.
we report on two novel RAB39B frameshift variants associated with X-linked Parkinsonism associated with Intellectual Disability and we also describe, for the first time, a somatic mosaicism in a patient carrying RAB39B mutation
Title: X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
results suggest that RAB39B mutation is very rare in familial PD and may not be a major cause of familial PD in the Chinese Han Population
Title: RAB39B gene mutations are not linked to familial Parkinson's disease in China.
This study identified two patients carrying a variant in RAB39B out of 344 male patients with Parkinsonsim.
Title: Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant.
Direct sequencing analysis of all coding exons and exon-intron boundaries was performed to detect small sequence alterations in RAB39B gene
Title: Mutations analysis of RAB39B gene in Chinese early-onset Parkinson's disease.
penetrance for autism spectrum disorder is high among males but more variable among females with RAB39B mutations; a critical role for this gene in brain development and function is demonstrated
Title: Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
X-linked juvenile parkinsonism could be caused by a RAB39B mutation, and basal ganglia calcification may be a novel clinical feature of RAB39B-related parkinsonism.
Title: A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

Associated conditions

Description	Tests
Chromosome Xq28 duplication syndrome MedGen: C2749007 OMIM: 300815 GeneReviews: Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated	Compare labs
Early-onset parkinsonism-intellectual disability syndrome MedGen: C0796195 OMIM: 311510 GeneReviews: Not available	Compare labs
Intellectual disability, X-linked 72 MedGen: C1846038 OMIM: 300271 GeneReviews: Not available	Compare labs

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

Variation

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See studies and variants in dbVar

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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

DXS1073 (e-PCR), detects polymorphism
- UniSTS:53337

A007I18 (e-PCR)
- UniSTS:28647

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 myosin V binding	IBA Inferred from Biological aspect of Ancestor 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	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay 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

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Preferred Names: ras-related protein Rab-39B

Names: Waisman syndrome

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.