RAB39B RAB39B, member RAS oncogene family

Gene ID: 116442, updated on 17-Mar-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Chromosome Xq28 duplication syndrome MedGen: C2749007OMIM: 300815GeneReviews: Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated	See labs
Early-onset parkinsonism-intellectual disability syndrome MedGen: C0796195OMIM: 311510GeneReviews: Not available	See labs
Intellectual disability, X-linked 72 MedGen: C1846038OMIM: 300271GeneReviews: Not available	See 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

Genomic context

Location:: Xq28

Sequence:: Chromosome: X; NC_000023.11 (155258235..155264491, complement)

Total number of exons:: 2

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for RAB39B variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RAB39B @ LOVD
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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