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Aliases for RAB39B Gene

Aliases for RAB39B Gene

  • RAB39B, Member RAS Oncogene Family 2 3
  • MRX72 3 6
  • Mental Retardation, X-Linked 72 2
  • Ras-Related Protein Rab-39B 3
  • WSMN 3

External Ids for RAB39B Gene

Previous Symbols for RAB39B Gene

  • MRX72

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 non-syndromic x-linked intellectual disability. GO annotations related to this gene include GTP binding. An important paralog of this gene is RAB42.

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.

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

Genomic Location for RAB39B Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAB39B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB39B Gene

Regulatory Elements 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:
    No Data Available

neXtProt entry for RAB39B Gene

Proteomics data for RAB39B Gene at MOPED

Post-translational modifications for RAB39B Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys140

Other Protein References for RAB39B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB39B Gene

Domains for RAB39B Gene

Gene Families for RAB39B Gene

HGNC:
  • RAB :RAB, member RAS oncogene

UniProtKB/Swiss-Prot:

RB39B_HUMAN
Family:
  • Belongs to the small GTPase superfamily. Rab family.:
    • Q96DA2
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.

Gene Ontology (GO) - Molecular Function for RAB39B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA --
GO:0005515 protein binding IPI 24705354
GO:0005525 GTP binding IEA --
GO:0031489 myosin V binding IPI 24006491
genes like me logo Genes that share ontologies with RAB39B: view

miRNA for RAB39B Gene

miRTarBase miRNAs that target RAB39B

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
plasma membrane 5
cytoskeleton 3
cytosol 3
nucleus 3
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RAB39B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus --
GO:0005737 cytoplasm --
GO:0005794 Golgi apparatus IDA 20159109
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with RAB39B: view

Pathways 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:0006184 obsolete GTP catabolic process --
GO:0006886 intracellular protein transport IBA --
GO:0006913 nucleocytoplasmic transport --
GO:0007165 signal transduction --
GO:0007264 small GTPase mediated signal transduction --
genes like me logo Genes that share ontologies with RAB39B: view

No data available for Pathways by source for RAB39B Gene

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:

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) (4.5) and Brain - Anterior cingulate cortex (BA24) (4.0).

Integrated Proteomics: protein expression 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 expressions with RAB39B: view

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 36
  • 100 (n)
  • 100 (a)
RAB39B 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB39B 36
  • 94.52 (n)
  • 99.53 (a)
RAB39B 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB39B 36
  • 94.1 (n)
  • 99.52 (a)
RAB39B 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab39b 36
  • 97.65 (n)
  • 99.53 (a)
Rab39b 16
Rab39b 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB39B 37
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB39B 36
  • 84.35 (n)
  • 97.65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486510 36
  • 78.25 (n)
  • 94.37 (a)
Str.13291 36
zebrafish
(Danio rerio)
Actinopterygii Dr.29085 36
rab39b 37
  • 90 (a)
OneToMany
tmem230 36
  • 75.43 (n)
  • 91.08 (a)
tmem230 37
  • 91 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000433 36
  • 59.47 (n)
  • 53.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rab39 36
  • 57.28 (n)
  • 53.52 (a)
Rab39 37
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rab-39 36
  • 54.79 (n)
  • 54.46 (a)
rab-39 37
  • 48 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5228 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs543054 -- 155,263,821(+) AGTTT(A/G)TTAGC intron-variant
rs573572 -- 155,264,893(+) ATAAT(C/T)GCTTT upstream-variant-2KB
rs573639 -- 155,264,916(+) AAGCA(A/T)CATAA 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

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

Relevant External Links for RAB39B Gene

HapMap Linkage Disequilibrium report
RAB39B
Human Gene Mutation Database (HGMD)
RAB39B
Locus Specific Mutation Databases (LSDB)
RAB39B

Disorders for RAB39B Gene

(1) OMIM Diseases for RAB39B Gene (300774)

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.
genes like me logo Genes that share disorders with RAB39B: view

Publications for RAB39B Gene

  1. Isolation and characterization of a human novel RAB (RAB39B) gene. (PMID: 12438742) Cheng H. … Mao Y. (Cytogenet. Genome Res. 2002) 2 3 4
  2. 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
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  5. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with I+-synuclein pathology. (PMID: 25434005) Wilson G.R. … Lockhart P.J. (Am. J. Hum. Genet. 2014) 3 4

Products for RAB39B Gene

Sources for RAB39B Gene

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