Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RAB39B Gene

Aliases for RAB39B Gene

  • RAB39B, Member RAS Oncogene Family 2 3 5
  • Mental Retardation, X-Linked 72 2
  • MRX72 3
  • WSMN 3

External Ids for RAB39B Gene

Previous HGNC Symbols for RAB39B Gene

  • MRX72

Previous GeneCards Identifiers for RAB39B Gene

  • GC00U991112
  • GC0XM150941
  • GC0XM152004
  • GC0XM152909
  • GC0XM152900
  • GC0XM154051
  • GC0XM154140
  • GC0XM154487
  • GC0XM143031

Summaries for RAB39B Gene

Entrez Gene Summary for RAB39B Gene

  • 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 mental retardation. [provided by RefSeq, Aug 2013]

GeneCards Summary for RAB39B Gene

RAB39B (RAB39B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB39B include waisman syndrome and tenorio syndrome. GO annotations related to this gene include GTP binding and myosin V binding. An important paralog of this gene is RAB39A.

UniProtKB/Swiss-Prot for RAB39B Gene

  • May be involved in vesicular trafficking. Plays a role in synapse formation. May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission (By similarity).

Gene Wiki entry for RAB39B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB39B Gene

Genomics for RAB39B Gene

Regulatory Elements for RAB39B Gene

Promoters for RAB39B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB39B on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB39B Gene

Chromosome:
X
Start:
155,258,234 bp from pter
End:
155,264,589 bp from pter
Size:
6,356 bases
Orientation:
Minus strand

Genomic View for RAB39B Gene

Genes around RAB39B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB39B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB39B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB39B Gene

Proteins for RAB39B Gene

  • Protein details for RAB39B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DA2-RB39B_HUMAN
    Recommended name:
    Ras-related protein Rab-39B
    Protein Accession:
    Q96DA2
    Secondary Accessions:
    • Q5JT79
    • Q8NEX3

    Protein attributes for RAB39B Gene

    Size:
    213 amino acids
    Molecular mass:
    24622 Da
    Quaternary structure:
    • Interacts (in GTP-bound form) with PICK1 (via PDZ domain); a PICK1 homodimer may allow simultaneous association of RAB39B and GRIA2 to PICK1 which is involved in GRIA2 trafficking.

neXtProt entry for RAB39B Gene

Proteomics data for RAB39B Gene at MOPED

Post-translational modifications for RAB39B Gene

  • Ubiquitination at Lys 140
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB39B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for RAB39B Gene

Domains & Families for RAB39B Gene

Suggested Antigen Peptide Sequences for RAB39B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96DA2

UniProtKB/Swiss-Prot:

RB39B_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB39B: view

Function for RAB39B Gene

Molecular function for RAB39B Gene

UniProtKB/Swiss-Prot Function:
May be involved in vesicular trafficking. Plays a role in synapse formation. May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission (By similarity).
genes like me logo Genes that share phenotypes with RAB39B: view

Human Phenotype Ontology for RAB39B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB39B Gene

Localization for RAB39B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB39B Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus. Note=Partial colocalization with markers that cycle from the cell surface to the trans-Golgi network. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB39B Gene COMPARTMENTS Subcellular localization image for RAB39B gene
Compartment Confidence
golgi apparatus 5
cytosol 3
plasma membrane 3
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for RAB39B Gene

Pathways & Interactions for RAB39B Gene

SuperPathways for RAB39B Gene

No Data Available

Interacting Proteins for RAB39B Gene

Gene Ontology (GO) - Biological Process for RAB39B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA,ISS --
genes like me logo Genes that share ontologies with RAB39B: view

No data available for Pathways by source and SIGNOR curated interactions for RAB39B Gene

Drugs & Compounds for RAB39B Gene

No Compound Related Data Available

Transcripts for RAB39B Gene

mRNA/cDNA for RAB39B Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(67) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RAB39B Gene

RAB39B, member RAS oncogene family:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB39B Gene

No ASD Table

Relevant External Links for RAB39B Gene

GeneLoc Exon Structure for
RAB39B
ECgene alternative splicing isoforms for
RAB39B

Expression for RAB39B Gene

mRNA expression in normal human tissues for RAB39B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB39B Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.5) and Brain - Anterior cingulate cortex (BA24) (x4.0).

Protein differential expression in normal tissues from HIPED for RAB39B Gene

This gene is overexpressed in Brain (33.0), Frontal cortex (10.4), Fetal Brain (7.0), and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB39B Gene



SOURCE GeneReport for Unigene cluster for RAB39B Gene Hs.632832

mRNA Expression by UniProt/SwissProt for RAB39B Gene

Q96DA2-RB39B_HUMAN
Tissue specificity: Highly expressed in the brain.
genes like me logo Genes that share expression patterns with RAB39B: view

Protein tissue co-expression partners for RAB39B Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for RAB39B Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB39B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB39B 35
  • 100 (n)
  • 100 (a)
RAB39B 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB39B 36
  • 100 (a)
OneToOne
RAB39B 35
  • 94.52 (n)
  • 99.53 (a)
dog
(Canis familiaris)
Mammalia RAB39B 35
  • 94.1 (n)
  • 99.52 (a)
RAB39B 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab39b 16
Rab39b 36
  • 100 (a)
OneToOne
Rab39b 35
  • 97.65 (n)
  • 99.53 (a)
oppossum
(Monodelphis domestica)
Mammalia RAB39B 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB39B 35
  • 84.35 (n)
  • 97.65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486510 35
  • 78.25 (n)
  • 94.37 (a)
Str.13291 35
zebrafish
(Danio rerio)
Actinopterygii rab39b 36
  • 90 (a)
OneToMany
tmem230 36
  • 91 (a)
OneToMany
Dr.29085 35
tmem230 35
  • 75.43 (n)
  • 91.08 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000433 35
  • 59.47 (n)
  • 53.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rab39 35
  • 57.28 (n)
  • 53.52 (a)
Rab39 36
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rab-39 35
  • 54.79 (n)
  • 54.46 (a)
rab-39 36
  • 48 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5228 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToMany
Species with no ortholog for RAB39B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB39B Gene

ENSEMBL:
Gene Tree for RAB39B (if available)
TreeFam:
Gene Tree for RAB39B (if available)

Paralogs for RAB39B Gene

genes like me logo Genes that share paralogs with RAB39B: view

Variants for RAB39B Gene

Sequence variations from dbSNP and Humsavar for RAB39B Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_073264 Waisman syndrome (WSMN)
rs573572 -- 155,264,893(+) ATAAT(C/T)GCTTT upstream-variant-2KB
rs3105275 -- 155,259,147(+) ATCAC(A/G)ATGGA utr-variant-3-prime
rs3105276 -- 155,265,763(+) tttta(A/G)tatac upstream-variant-2KB
rs3747326 -- 155,258,187(+) TGCTA(C/T)GCTGT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for RAB39B Gene

Variant ID Type Subtype PubMed ID
esv33784 CNV Gain+Loss 17666407
esv29972 CNV Gain 17803354
esv2543058 CNV Deletion 19546169

Variation tolerance for RAB39B Gene

Residual Variation Intolerance Score: 32.1% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB39B Gene

HapMap Linkage Disequilibrium report
RAB39B
Human Gene Mutation Database (HGMD)
RAB39B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB39B Gene

Disorders for RAB39B Gene

MalaCards: The human disease database

(11) MalaCards diseases for RAB39B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
waisman syndrome
  • parkinsonism, early onset with mental retardation
tenorio syndrome
  • overgrowth, macrocephaly, and intellectual disability syndrome
cornelia de lange syndrome 4
  • cdls4
early-onset parkinsonism-intellectual disability syndrome
  • waisman syndrome
chromosomal duplication syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RB39B_HUMAN
  • Mental retardation, X-linked 72 (MRX72) [MIM:300271]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features. {ECO:0000269 PubMed:20159109}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Waisman syndrome (WSMN) [MIM:311510]: A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease. {ECO:0000269 PubMed:25434005}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAB39B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB39B
genes like me logo Genes that share disorders with RAB39B: view

No data available for Genatlas for RAB39B Gene

Publications for RAB39B Gene

  1. Mutations in the small GTPase gene RAB39B are responsible for X- linked mental retardation associated with autism, epilepsy, and macrocephaly. (PMID: 20159109) Giannandrea M. … D'Adamo P. (Am. J. Hum. Genet. 2010) 2 3 4 67
  2. Isolation and characterization of a human novel RAB (RAB39B) gene. (PMID: 12438742) Cheng H. … Mao Y. (Cytogenet. Genome Res. 2002) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition. (PMID: 25784538) Mignogna M.L. … D'Adamo P. (Nat. Commun. 2015) 3
  5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 3

Products for RAB39B Gene

Sources for RAB39B Gene

Back to Top

Content