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Aliases for RAB27B Gene

Aliases for RAB27B Gene

  • RAB27B, Member RAS Oncogene Family 2 3 5
  • C25KG 3 4
  • Ras-Related Protein Rab-27B 3

External Ids for RAB27B Gene

Previous GeneCards Identifiers for RAB27B Gene

  • GC18P052584
  • GC18P052398
  • GC18P052280
  • GC18P050644
  • GC18P050646
  • GC18P052495
  • GC18P049204
  • GC18P052385

Summaries for RAB27B Gene

Entrez Gene Summary for RAB27B Gene

  • Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]

GeneCards Summary for RAB27B Gene

RAB27B (RAB27B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB27B include Griscelli Syndrome. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and RAB geranylgeranylation. GO annotations related to this gene include GTP binding and protein domain specific binding. An important paralog of this gene is RAB27A.

UniProtKB/Swiss-Prot for RAB27B Gene

  • May be involved in targeting uroplakins to urothelial apical membranes.

Additional gene information for RAB27B Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB27B Gene

Genomics for RAB27B Gene

Regulatory Elements for RAB27B Gene

Enhancers for RAB27B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18H054822 1 FANTOM5 ENCODE 19.7 +105.4 105396 1 GTF2F1 TBP JUN MAX CEBPG RFX5 FOSL1 POLR2A SMC3 RCOR1 RAB27B POLI ENSG00000267311 GC18P054745
GH18H054873 0.8 ENCODE 12.1 +155.9 155911 1 FOXA2 TAL1 MAX FEZF1 RAD21 YY1 TCF12 GATA2 NCOR1 HNF4G RAB27B ENSG00000267311 GC18P054745
GH18H054879 0.6 ENCODE 11.2 +163.0 162951 1 RFX1 TAL1 JUN FOSL1 TCF12 SMARCA4 NCOR1 KDM1A HNF4A RAB27B CCDC68 ENSG00000267311 ENSG00000267112
GH18H054805 1.1 Ensembl ENCODE 5.2 +88.1 88126 0 HDAC1 LEF1 PKNOX1 ATF1 MAX CEBPG FOSL1 TCF12 ZNF766 CTBP1 RAB27B POLI GC18P054745 ENSG00000267311
GH18H054717 1 Ensembl ENCODE dbSUPER 0.7 +0.2 241 1 MXI1 POLR2A ZNF143 RUNX3 CCDC68 RAB27B GC18P054727
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB27B on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB27B Gene

Chromosome:
18
Start:
54,717,860 bp from pter
End:
54,895,516 bp from pter
Size:
177,657 bases
Orientation:
Plus strand

Genomic View for RAB27B Gene

Genes around RAB27B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB27B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB27B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB27B Gene

Proteins for RAB27B Gene

  • Protein details for RAB27B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00194-RB27B_HUMAN
    Recommended name:
    Ras-related protein Rab-27B
    Protein Accession:
    O00194
    Secondary Accessions:
    • B2RAB0
    • Q9BZB6

    Protein attributes for RAB27B Gene

    Size:
    218 amino acids
    Molecular mass:
    24608 Da
    Quaternary structure:
    • Interacts with SYTL2, SYTL4, MYRIP and MLPH. Interacts with RPH3A and RPH3A (By similarity).

    Three dimensional structures from OCA and Proteopedia for RAB27B Gene

neXtProt entry for RAB27B Gene

Post-translational modifications for RAB27B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB27B Gene

No data available for DME Specific Peptides for RAB27B Gene

Domains & Families for RAB27B Gene

Gene Families for RAB27B Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RAB27B Gene

Suggested Antigen Peptide Sequences for RAB27B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00194

UniProtKB/Swiss-Prot:

RB27B_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 RAB27B: view

Function for RAB27B Gene

Molecular function for RAB27B Gene

UniProtKB/Swiss-Prot Function:
May be involved in targeting uroplakins to urothelial apical membranes.

Phenotypes From GWAS Catalog for RAB27B Gene

Gene Ontology (GO) - Molecular Function for RAB27B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity ISS,IEA --
GO:0005515 protein binding IPI 15357836
GO:0005525 GTP binding ISS,IEA --
GO:0019003 GDP binding IDA 20937701
GO:0019904 protein domain specific binding IPI 16880209
genes like me logo Genes that share ontologies with RAB27B: view
genes like me logo Genes that share phenotypes with RAB27B: view

Animal Models for RAB27B Gene

MGI Knock Outs for RAB27B:

Animal Model Products

CRISPR Products

miRNA for RAB27B Gene

miRTarBase miRNAs that target RAB27B

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RAB27B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB27B Gene

Localization for RAB27B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB27B Gene

Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB27B gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 5
endosome 5
cytosol 4
nucleus 2
lysosome 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Golgi apparatus (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB27B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005795 Golgi stack IDA 19966785
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with RAB27B: view

Pathways & Interactions for RAB27B Gene

genes like me logo Genes that share pathways with RAB27B: view

Pathways by source for RAB27B Gene

Gene Ontology (GO) - Biological Process for RAB27B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0017157 regulation of exocytosis IEA --
GO:0032402 melanosome transport IBA --
GO:0045921 positive regulation of exocytosis IMP 19966785
GO:0071985 multivesicular body sorting pathway IMP 19966785
genes like me logo Genes that share ontologies with RAB27B: view

No data available for SIGNOR curated interactions for RAB27B Gene

Drugs & Compounds for RAB27B Gene

No Compound Related Data Available

Transcripts for RAB27B Gene

Unigene Clusters for RAB27B Gene

RAB27B, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RAB27B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RAB27B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1:
SP2: -

Relevant External Links for RAB27B Gene

GeneLoc Exon Structure for
RAB27B
ECgene alternative splicing isoforms for
RAB27B

Expression for RAB27B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB27B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB27B Gene

This gene is overexpressed in Esophagus - Mucosa (x5.2) and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for RAB27B Gene

This gene is overexpressed in Platelet (41.3) and Monocytes (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAB27B Gene



NURSA nuclear receptor signaling pathways regulating expression of RAB27B Gene:

RAB27B

SOURCE GeneReport for Unigene cluster for RAB27B Gene:

Hs.25318

mRNA Expression by UniProt/SwissProt for RAB27B Gene:

O00194-RB27B_HUMAN
Tissue specificity: Expressed primarily in testis.

Evidence on tissue expression from TISSUES for RAB27B Gene

  • Blood(4.4)
  • Skin(4.4)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with RAB27B: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB27B Gene

Orthologs for RAB27B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAB27B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB27B 33 34
  • 99.85 (n)
oppossum
(Monodelphis domestica)
Mammalia RAB27B 34
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB27B 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB27B 33 34
  • 91.59 (n)
cow
(Bos Taurus)
Mammalia RAB27B 33 34
  • 90.52 (n)
mouse
(Mus musculus)
Mammalia Rab27b 33 16 34
  • 88.99 (n)
rat
(Rattus norvegicus)
Mammalia Rab27b 33
  • 88.07 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 34 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia RAB27B 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab27b 33
  • 78.9 (n)
Str.6764 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16300 33
zebrafish
(Danio rerio)
Actinopterygii RAB27B 34
  • 80 (a)
OneToOne
si:ch1073-112i17.1 33
  • 72.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta EG:80H7.4 35
  • 60 (a)
Rab27 34
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aex-6 34
  • 61 (a)
OneToMany
4R79.2 35
  • 42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT10 34
  • 31 (a)
ManyToMany
YPT52 34
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
OneToMany
Species where no ortholog for RAB27B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (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 RAB27B Gene

ENSEMBL:
Gene Tree for RAB27B (if available)
TreeFam:
Gene Tree for RAB27B (if available)

Paralogs for RAB27B Gene

Variants for RAB27B Gene

Sequence variations from dbSNP and Humsavar for RAB27B Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1000006013 -- 54,799,690(+) AGTGG(C/T)GTGAT intron-variant
rs1000045432 -- 54,888,325(+) TGTGC(G/T)AGCAA intron-variant
rs1000059189 -- 54,888,300(+) CCTAA(C/T)ATTTA intron-variant
rs1000070547 -- 54,825,317(+) TAAAG(A/G)ATTGT intron-variant
rs1000071527 -- 54,759,123(+) GTCAA(A/G)AAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB27B Gene

Variant ID Type Subtype PubMed ID
esv2660892 CNV deletion 23128226
esv2717130 CNV deletion 23290073
esv3642588 CNV loss 21293372
nsv2314 CNV deletion 18451855
nsv510458 OTHER sequence alteration 20534489
nsv520160 CNV loss 19592680

Variation tolerance for RAB27B Gene

Residual Variation Intolerance Score: 66.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB27B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB27B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB27B Gene

Disorders for RAB27B Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB27B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
griscelli syndrome
  • chédiak-higashi-like syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RAB27B

Genetic Association Database (GAD)
RAB27B
Human Genome Epidemiology (HuGE) Navigator
RAB27B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB27B
genes like me logo Genes that share disorders with RAB27B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB27B Gene

Publications for RAB27B Gene

  1. Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets. (PMID: 9066979) Chen D … Gahl WA (Biochemical and molecular medicine 1997) 2 3 4 22 60
  2. Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene. (PMID: 11178108) Ramalho JS … Seabra MC (BMC genetics 2001) 3 4 22 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Intramanchette transport during primate spermiogenesis: expression of dynein, myosin Va, motor recruiter myosin Va, VIIa-Rab27a/b interacting protein, and Rab27b in the manchette during human and monkey spermiogenesis. (PMID: 18478159) Hayasaka S … Okamura K (Asian journal of andrology 2008) 3 22 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for RAB27B Gene

Sources for RAB27B Gene

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