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Aliases for RAB8B Gene

Aliases for RAB8B Gene

  • RAB8B, Member RAS Oncogene Family 2 3 5

External Ids for RAB8B Gene

Previous GeneCards Identifiers for RAB8B Gene

  • GC15P061197
  • GC15P061268
  • GC15P063481
  • GC15P040304
  • GC15P063466
  • GC15P063777

Summaries for RAB8B Gene

Entrez Gene Summary for RAB8B Gene

  • RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]

GeneCards Summary for RAB8B Gene

RAB8B (RAB8B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB8B include joubert syndrome 1. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB37.

UniProtKB/Swiss-Prot for RAB8B Gene

  • The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells (By similarity).

Gene Wiki entry for RAB8B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB8B Gene

Genomics for RAB8B Gene

Regulatory Elements for RAB8B Gene

Promoters for RAB8B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB8B on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB8B Gene

Chromosome:
15
Start:
63,189,469 bp from pter
End:
63,267,782 bp from pter
Size:
78,314 bases
Orientation:
Plus strand

Genomic View for RAB8B Gene

Genes around RAB8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB8B Gene

Proteins for RAB8B Gene

  • Protein details for RAB8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92930-RAB8B_HUMAN
    Recommended name:
    Ras-related protein Rab-8B
    Protein Accession:
    Q92930
    Secondary Accessions:
    • Q5JPC4
    • Q9P293

    Protein attributes for RAB8B Gene

    Size:
    207 amino acids
    Molecular mass:
    23584 Da
    Quaternary structure:
    • Associated with actin, delta-catenin and alpha and beta tubulins (By similarity). Interacts with OTOF (By similarity). Interacts with PEX5R (By similarity). Interacts with RAB3IP. Interacts with VIM (By similarity). Interacts with CDH1 (By similarity). Interacts with MICALL2 (By similarity).

neXtProt entry for RAB8B Gene

Proteomics data for RAB8B Gene at MOPED

Post-translational modifications for RAB8B Gene

  • Ubiquitination at Lys 100
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB8B Gene

Antibody Products

No data available for DME Specific Peptides for RAB8B Gene

Domains & Families for RAB8B Gene

Gene Families for RAB8B Gene

Suggested Antigen Peptide Sequences for RAB8B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92930

UniProtKB/Swiss-Prot:

RAB8B_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 RAB8B: view

Function for RAB8B Gene

Molecular function for RAB8B Gene

UniProtKB/Swiss-Prot Function:
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells (By similarity).
genes like me logo Genes that share phenotypes with RAB8B: view

Animal Models for RAB8B Gene

MGI Knock Outs for RAB8B:

Animal Model Products

miRNA for RAB8B Gene

miRTarBase miRNAs that target RAB8B

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB8B Gene

Localization for RAB8B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB8B Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB8B Gene COMPARTMENTS Subcellular localization image for RAB8B gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 5
extracellular 5
golgi apparatus 5
nucleus 5
peroxisome 5
plasma membrane 5
mitochondrion 3
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RAB8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0016020 membrane IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
GO:0051286 cell tip IEA --
genes like me logo Genes that share ontologies with RAB8B: view

Pathways & Interactions for RAB8B Gene

genes like me logo Genes that share pathways with RAB8B: view

Pathways by source for RAB8B Gene

Gene Ontology (GO) - Biological Process for RAB8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006904 vesicle docking involved in exocytosis IBA --
GO:0007165 signal transduction IEA --
GO:0009306 protein secretion IBA --
GO:0019882 antigen processing and presentation IMP 19717423
GO:0031346 positive regulation of cell projection organization IEA --
genes like me logo Genes that share ontologies with RAB8B: view

No data available for SIGNOR curated interactions for RAB8B Gene

Drugs & Compounds for RAB8B Gene

(2) Drugs for RAB8B Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0
Phosphoaminophosphonic Acid Guanylate Ester Experimental Pharma Target 0
genes like me logo Genes that share compounds with RAB8B: view

Transcripts for RAB8B Gene

Unigene Clusters for RAB8B Gene

RAB8B, member RAS oncogene family:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB8B Gene

No ASD Table

Relevant External Links for RAB8B Gene

GeneLoc Exon Structure for
RAB8B
ECgene alternative splicing isoforms for
RAB8B

Expression for RAB8B Gene

mRNA expression in normal human tissues for RAB8B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB8B Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for RAB8B Gene

This gene is overexpressed in Tlymphocyte (8.8) and Lymph node (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB8B Gene



SOURCE GeneReport for Unigene cluster for RAB8B Gene Hs.389733

genes like me logo Genes that share expression patterns with RAB8B: view

Protein tissue co-expression partners for RAB8B Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for RAB8B Gene

Orthologs for RAB8B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB8B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAB8B 35
  • 93.24 (n)
  • 98.07 (a)
RAB8B 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB8B 35
  • 89.86 (n)
  • 92.72 (a)
RAB8B 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab8b 35
  • 92.59 (n)
  • 98.55 (a)
Rab8b 16
Rab8b 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAB8B 35
  • 99.4 (n)
  • 100 (a)
RAB8B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab8b 35
  • 93.56 (n)
  • 98.55 (a)
oppossum
(Monodelphis domestica)
Mammalia RAB8B 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB8B 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB8B 35
  • 87.28 (n)
  • 96.62 (a)
RAB8B 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab8b 35
  • 80.03 (n)
  • 94.69 (a)
zebrafish
(Danio rerio)
Actinopterygii rab8b 35
  • 80.35 (n)
  • 94.2 (a)
rab8b 36
  • 93 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rab-8 36
  • 73 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC4 38
soybean
(Glycine max)
eudicotyledons Gma.11282 35
rice
(Oryza sativa)
Liliopsida Os07g0195100 35
  • 65.54 (n)
  • 63.84 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3970 35
Species with no ortholog for RAB8B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • 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 RAB8B Gene

ENSEMBL:
Gene Tree for RAB8B (if available)
TreeFam:
Gene Tree for RAB8B (if available)

Paralogs for RAB8B Gene

Pseudogenes.org Pseudogenes for RAB8B Gene

genes like me logo Genes that share paralogs with RAB8B: view

Variants for RAB8B Gene

Sequence variations from dbSNP and Humsavar for RAB8B Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs13681 -- 63,267,410(+) GTTAT(A/T)ATAGT utr-variant-3-prime
rs894992 -- 63,208,463(-) AAAAA(A/T)TAGCA intron-variant
rs894993 -- 63,208,337(-) CATCA(A/T)CTCAG intron-variant
rs764090 -- 63,214,293(+) TTTTT(C/T)TTTTT intron-variant
rs1264296 -- 63,214,448(-) caggc(A/C)cggtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB8B Gene

Variant ID Type Subtype PubMed ID
nsv428305 CNV Gain 18775914
esv27033 CNV Gain+Loss 19812545

Variation tolerance for RAB8B Gene

Residual Variation Intolerance Score: 44.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB8B Gene

HapMap Linkage Disequilibrium report
RAB8B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB8B Gene

Disorders for RAB8B Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB8B Gene - From: DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RAB8B in MalaCards View complete list of genes associated with diseases

Relevant External Links for RAB8B

Genetic Association Database (GAD)
RAB8B
Human Genome Epidemiology (HuGE) Navigator
RAB8B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB8B
genes like me logo Genes that share disorders with RAB8B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB8B Gene

Publications for RAB8B Gene

  1. RAB GTPases expressed in human melanoma cells. (PMID: 9030196) Chen D. … Gahl W.A. (Biochim. Biophys. Acta 1997) 2 3 4 67
  2. Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form. (PMID: 18772196) Heidrych P. … Blin N. (Hum. Mol. Genet. 2008) 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. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. (PMID: 24564958) St Pourcain B. … Smith G.D. (Mol Autism 2014) 3

Products for RAB8B Gene

Sources for RAB8B Gene

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