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] See more...

Aliases for RAB27B Gene

Aliases for RAB27B Gene

  • RAB27B, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-27B 3 4
  • C25KG 3 4
  • EC 3.6.5.2 4
  • RAB27B 5

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 and Piebald Trait. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Vesicle-mediated transport. Gene Ontology (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 Summary for RAB27B Gene

  • Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in NTRK2/TRKB axonal anterograde transport by facilitating the association of NTRK2/TRKB with KLC1 (PubMed:21775604). May be involved in targeting uroplakins to urothelial apical membranes (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB27B Gene

Genomics for RAB27B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB27B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J054827 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.1 +111.6 111640 3.5 FEZF1 IKZF1 ZNF217 SIX4 ELF1 ZIC2 CEBPB MAX ZNF341 GABPB1 RAB27B CCDC68 POLI piR-48325-079 HSALNG0121662
GH18J054717 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 250.7 +0.3 324 0.9 ZNF143 POLR2A RAD21 CTCF RUNX3 RAB27B CCDC68 lnc-DYNAP-36
GH18J054716 Enhancer 0.2 ENCODE 250.7 -1.1 -1077 0.2 RAB27B CCDC68 piR-46476 DYNAP
GH18J054822 Enhancer 1 FANTOM5 Ensembl ENCODE 19.7 +105.2 105244 1.8 CEBPB ZNF395 MAX EP300 PRDM1 RFX5 SMC3 STAT3 TBP FOSL1 RAB27B POLI piR-48325-079 HSALNG0121662 CCDC68
GH18J054873 Enhancer 0.9 Ensembl ENCODE 12.1 +156.0 155968 1.2 FEZF1 IKZF1 TAL1 RXRA FOXA2 ZBTB33 MYNN STAT5A JUND HNF4A RAB27B ENSG00000267311 piR-48325-079 CCDC68
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB27B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB27B

Top Transcription factor binding sites by QIAGEN in the RAB27B gene promoter:
  • Gfi-1
  • Ik-3
  • Oct-B1
  • oct-B2
  • oct-B3
  • p53
  • POU2F1
  • POU2F1a
  • POU6F1 (c2)

Genomic Locations for RAB27B Gene

Latest Assembly
chr18:54,717,842-54,895,516
(GRCh38/hg38)
Size:
177,675 bases
Orientation:
Plus strand

Previous Assembly
chr18:52,385,088-52,562,747
(GRCh37/hg19 by Entrez Gene)
Size:
177,660 bases
Orientation:
Plus strand

chr18:52,385,091-52,562,747
(GRCh37/hg19 by Ensembl)
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). Interacts (GDP-bound form preferentially) with DENND10 (PubMed:30771381).

    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

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

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
ProtoNet:

Suggested Antigen Peptide Sequences for RAB27B Gene

GenScript: Design optimal peptide antigens:
  • C25KG (RB27B_HUMAN)

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:
Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in NTRK2/TRKB axonal anterograde transport by facilitating the association of NTRK2/TRKB with KLC1 (PubMed:21775604). May be involved in targeting uroplakins to urothelial apical membranes (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence={ECO:0000305|PubMed:30771381};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase. Activated by GEFs such as DENND10.

Enzyme Numbers (IUBMB) for RAB27B Gene

Phenotypes From GWAS Catalog for RAB27B Gene

Gene Ontology (GO) - Molecular Function for RAB27B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,ISS --
GO:0005515 protein binding IPI 15357836
GO:0005525 GTP binding IEA,ISS --
GO:0016787 hydrolase activity IEA --
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB27B

No data available for 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. Late endosome.

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
endosome 5
golgi apparatus 5
extracellular 4
cytosol 4
cytoskeleton 2
mitochondrion 2
nucleus 2
lysosome 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB27B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA,IDA 30771381
GO:0005794 Golgi apparatus IEA --
GO:0005795 Golgi stack IDA 19966785
GO:0005886 plasma membrane TAS --
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

1 KEGG pathway for RAB27B Gene
1 Qiagen pathway for RAB27B Gene
  • Epithelial Tight Junctions

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 21873635
GO:0045921 positive regulation of exocytosis IBA,IMP 19966785
GO:0048488 synaptic vesicle endocytosis IEA --
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

mRNA/cDNA for RAB27B Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB27B

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

Expression for RAB27B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for RAB27B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Nervous system(4.5)
  • Blood(4.5)
  • Skin(4.5)
  • Kidney(2.2)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with RAB27B: view

Primer products for research

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 30 31
  • 99.85 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB27B 31
  • 93 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB27B 31
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB27B 30 31
  • 91.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB27B 30 31
  • 90.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab27b 30 17 31
  • 88.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab27b 30
  • 88.07 (n)
Chicken
(Gallus gallus)
Aves -- 31
  • 34 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia RAB27B 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab27b 30
  • 78.9 (n)
Str.6764 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16300 30
Zebrafish
(Danio rerio)
Actinopterygii RAB27B 31
  • 80 (a)
OneToOne
si:ch1073-112i17.1 30
  • 72.04 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta EG:80H7.4 32
  • 60 (a)
Rab27 31
  • 47 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea aex-6 31
  • 61 (a)
OneToMany
4R79.2 32
  • 42 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT10 31
  • 31 (a)
ManyToMany
YPT52 31
  • 25 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToMany
Species where no ortholog for RAB27B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAB27B: view image

Paralogs for RAB27B Gene

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

Variants for RAB27B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB27B Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs9966265 - p.Ala92Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB27B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for RAB27B Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for RAB27B Gene

MalaCards: The human disease database

(4) MalaCards diseases for RAB27B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
griscelli syndrome
  • chediak-higashi-like syndrome
piebald trait
  • pbt
griscelli syndrome, type 2
  • gs2
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RAB27B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  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 23
  3. DENN domain-containing protein FAM45A regulates the homeostasis of late/multivesicular endosomes. (PMID: 30771381) Zhang J … Zhang Y (Biochimica et biophysica acta. Molecular cell research 2019) 3 4
  4. 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 41
  5. 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 23

Products for RAB27B Gene

Sources for RAB27B Gene