The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been... See more...

Aliases for RAB27A Gene

Aliases for RAB27A Gene

  • RAB27A, Member RAS Oncogene Family 2 3 5
  • RAB27 2 3 4
  • Ras-Related Protein Rab-27A 3 4
  • GTP-Binding Protein Ram 3 4
  • HsT18676 2 3
  • Rab-27 3 4
  • GS2 2 3
  • RAM 2 3
  • Mutant Ras-Related Protein Rab-27A 3
  • EC 3.6.5.2 4
  • RAB27A 5

External Ids for RAB27A Gene

Previous GeneCards Identifiers for RAB27A Gene

  • GC15M051054
  • GC15M048542
  • GC15M053075
  • GC15M053211
  • GC15M053283
  • GC15M055495
  • GC15M032321

Summaries for RAB27A Gene

Entrez Gene Summary for RAB27A Gene

  • The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for RAB27A Gene

RAB27A (RAB27A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB27A include Griscelli Syndrome, Type 2 and Griscelli Syndrome. Among its related pathways are Cytoskeletal Signaling 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 RAB27B.

UniProtKB/Swiss-Prot Summary for RAB27A 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 cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.

Gene Wiki entry for RAB27A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB27A Gene

Genomics for RAB27A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB27A 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
GH15J055288 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 266.4 +29.6 29612 3.4 BCLAF1 ZNF207 NCOR1 MYC ZNF600 ZNF654 IKZF1 ZNF592 CEBPA ATF3 RAB27A ENSG00000276533 lnc-PIGBOS1-6 PIGB RFX7 PIGBOS1 DNAAF4 CCPG1 lnc-PIGBOS1-1 RSL24D1
GH15J055318 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.2 -188 3.8 BCLAF1 ZNF207 MYC IKZF1 ZNF600 ZNF580 ZMYM3 POLR2A CEBPA BRCA1 PIGB HSALNG0106065 HSALNG0106066 RAB27A lnc-PIGBOS1-1 PIGBOS1 RFX7 DNAAF4 ENSG00000274765
GH15J055270 Promoter/Enhancer 0.7 EPDnew ENCODE dbSUPER 250.3 +48.5 48520 0.5 RAB27A RF00001-115 lnc-PIGBOS1-6 PIGB MK280144-202 RSL24D1
GH15J055272 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.3 +48.2 48171 0.1 RAB27A RF00001-115 lnc-PIGBOS1-6 PIGB MK280144-202 RSL24D1
GH15J055271 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.3 +48.9 48885 0.1 RAB27A RF00001-115 lnc-PIGBOS1-6 PIGB MK280144-202 RSL24D1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB27A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB27A

Top Transcription factor binding sites by QIAGEN in the RAB27A gene promoter:
  • Bach1

Genomic Locations for RAB27A Gene

Latest Assembly
chr15:55,202,966-55,319,113
(GRCh38/hg38)
Size:
116,148 bases
Orientation:
Minus strand

Previous Assembly
chr15:55,495,164-55,582,011
(GRCh37/hg19 by Entrez Gene)
Size:
86,848 bases
Orientation:
Minus strand

chr15:55,495,164-55,611,311
(GRCh37/hg19 by Ensembl)
Size:
116,148 bases
Orientation:
Minus strand

Genomic View for RAB27A Gene

Genes around RAB27A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB27A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB27A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB27A Gene

Proteins for RAB27A Gene

  • Protein details for RAB27A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51159-RB27A_HUMAN
    Recommended name:
    Ras-related protein Rab-27A
    Protein Accession:
    P51159
    Secondary Accessions:
    • O00195
    • Q6FI40
    • Q9UIR9
    • Q9Y5U3

    Protein attributes for RAB27A Gene

    Size:
    221 amino acids
    Molecular mass:
    24868 Da
    Quaternary structure:
    • Binds SYTL1, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5. Interacts with RPH3A and RPH3A (By similarity). Binds MLPH and SYTL2. Interacts with UNC13D. Does not interact with the BLOC-3 complex (heterodimer of HPS1 and HPS4) (PubMed:20048159). Interacts (GDP-bound form preferentially) with DENND10 (PubMed:30771381).

    Three dimensional structures from OCA and Proteopedia for RAB27A Gene

    Alternative splice isoforms for RAB27A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB27A Gene

Post-translational modifications for RAB27A Gene

  • Ubiquitination at Lys33
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RAB27A Gene

Domains & Families for RAB27A Gene

Gene Families for RAB27A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RAB27A Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB27A Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93274, Homo sapiens RAB27A, member RAS oncogene family (RAB27A), mRNA (A2RU94_HUMAN)
  • RAB27A protein (Q6IAS8_HUMAN)
  • GTP-binding protein Ram (RB27A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51159

UniProtKB/Swiss-Prot:

RB27A_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 RAB27A: view

Function for RAB27A Gene

Molecular function for RAB27A 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 cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.
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:12531900, ECO:0000305|PubMed:15548590};.
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.
GENATLAS Biochemistry:
RAB27A,RAS oncogene superfamily member,prenylated by REP1 and unprenylated in CHM patients with an alternatively polyadenylation sites

Enzyme Numbers (IUBMB) for RAB27A Gene

Phenotypes From GWAS Catalog for RAB27A Gene

Gene Ontology (GO) - Molecular Function for RAB27A 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 12897212
GO:0005525 GTP binding IEA,ISS --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RAB27A: view
genes like me logo Genes that share phenotypes with RAB27A: view

Human Phenotype Ontology for RAB27A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for RAB27A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB27A

Clone products for research

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for RAB27A Gene

Localization for RAB27A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB27A Gene

Membrane. Lipid-anchor. Melanosome. Late endosome. Lysosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545, PubMed:17081065). Localizes to endosomal exocytic vesicles (PubMed:17237785). {ECO:0000269 PubMed:12643545, ECO:0000269 PubMed:17081065, ECO:0000269 PubMed:17237785}.

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 RAB27A gene
Compartment Confidence
endosome 5
cytosol 5
lysosome 5
plasma membrane 4
extracellular 4
nucleus 3
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RAB27A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005576 extracellular region TAS --
GO:0005764 lysosome IEA,IDA 15548590
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA,IDA 17237785
genes like me logo Genes that share ontologies with RAB27A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB27A Gene

Pathways & Interactions for RAB27A Gene

genes like me logo Genes that share pathways with RAB27A: view

Pathways by source for RAB27A Gene

1 Sino Biological pathway for RAB27A Gene
2 GeneGo (Thomson Reuters) pathways for RAB27A Gene
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
  • wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
1 Qiagen pathway for RAB27A Gene
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for RAB27A Gene

Gene Ontology (GO) - Biological Process for RAB27A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0006887 exocytosis IEA,IDA 18812475
GO:0007596 blood coagulation IEA --
GO:0010628 positive regulation of gene expression IMP 23092844
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with RAB27A: view

No data available for SIGNOR curated interactions for RAB27A Gene

Drugs & Compounds for RAB27A Gene

(2) Drugs for RAB27A Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
emapalumab Approved, Investigational Pharma 0

(4) Additional Compounds for RAB27A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB27A: view

Transcripts for RAB27A Gene

mRNA/cDNA for RAB27A Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
12 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 RAB27A

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for RAB27A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - - -
SP2: -
SP3: - -
SP4: - -

Relevant External Links for RAB27A Gene

GeneLoc Exon Structure for
RAB27A

Expression for RAB27A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB27A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB27A Gene

This gene is overexpressed in Whole Blood (x10.1).

Protein differential expression in normal tissues from HIPED for RAB27A Gene

This gene is overexpressed in Monocytes (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB27A Gene



Protein tissue co-expression partners for RAB27A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB27A

SOURCE GeneReport for Unigene cluster for RAB27A Gene:

Hs.654978

mRNA Expression by UniProt/SwissProt for RAB27A Gene:

P51159-RB27A_HUMAN
Tissue specificity: Found in all the examined tissues except in brain. Low expression was found in thymus, kidney, muscle and placenta. Detected in melanocytes, and in most tumor cell lines examined. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells.

Evidence on tissue expression from TISSUES for RAB27A Gene

  • Skin(4.7)
  • Nervous system(4.5)
  • Eye(4.4)
  • Blood(3)
  • Liver(2.8)
  • Bone marrow(2.8)
  • Lymph node(2.7)
  • Spleen(2.7)
  • Pancreas(2.5)
  • Intestine(2.5)
  • Adrenal gland(2.5)
  • Stomach(2.5)
  • Lung(2.4)
  • Heart(2.4)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB27A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Abdomen:
  • intestine
  • liver
  • pancreas
  • small intestine
General:
  • blood
  • blood vessel
  • hair
  • lymph node
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with RAB27A: view

Orthologs for RAB27A Gene

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

Orthologs for RAB27A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB27A 29 30
  • 99.4 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB27A 30
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 30
  • 93 (a)
OneToMany
RAB27A 29 30
  • 90.05 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia RAB27A 29 30
  • 92.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB27A 30
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab27a 29 16 30
  • 88.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab27a 29
  • 86.88 (n)
Chicken
(Gallus gallus)
Aves RAB27A 29 30
  • 81.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB27A 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab27a 29
  • 81.15 (n)
Str.10817 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.8098 29
Zebrafish
(Danio rerio)
Actinopterygii rab27a 29 30
  • 72.88 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Rab27 29 30
  • 62.69 (n)
OneToMany
EG:80H7.4 31
  • 62 (a)
Worm
(Caenorhabditis elegans)
Secernentea aex-6 29 30
  • 59.51 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT10 30
  • 31 (a)
ManyToMany
YPT52 30
  • 25 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 65 (a)
OneToMany
Species where no ortholog for RAB27A 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 RAB27A Gene

ENSEMBL:
Gene Tree for RAB27A (if available)
TreeFam:
Gene Tree for RAB27A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB27A: view image
Alliance of Genome Resources:
Additional Orthologs for RAB27A

Paralogs for RAB27A Gene

genes like me logo Genes that share paralogs with RAB27A: view

Variants for RAB27A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB27A Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1001073 Uncertain Significance: Griscelli syndrome type 2 55,234,782(-) C/T
NM_183235.3(RAB27A):c.153G>A (p.Val51=)
SYNONYMOUS
1008019 Uncertain Significance: Griscelli syndrome type 2 55,228,610(-) T/A
NM_183235.3(RAB27A):c.342A>T (p.Ile114=)
SYNONYMOUS
1017101 Uncertain Significance: Griscelli syndrome type 2 55,228,707(-) C/T
NM_183235.3(RAB27A):c.245G>A (p.Arg82His)
MISSENSE
1018190 Uncertain Significance: Griscelli syndrome type 2 55,228,695(-) G/A
NM_183235.3(RAB27A):c.257C>T (p.Thr86Ile)
MISSENSE
1021357 Uncertain Significance: Griscelli syndrome type 2 55,205,580(-) A/G
NM_183235.3(RAB27A):c.593T>C (p.Val198Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB27A 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 RAB27A Gene

Variant ID Type Subtype PubMed ID
esv2666165 CNV deletion 23128226
esv2761899 CNV gain+loss 21179565
esv3569598 CNV gain 25503493
esv3636554 CNV loss 21293372
nsv1036924 CNV loss 25217958
nsv1039471 CNV gain 25217958
nsv1043789 CNV gain 25217958
nsv1049977 CNV loss 25217958
nsv569522 CNV loss 21841781
nsv569523 CNV gain 21841781
nsv569524 CNV loss 21841781
nsv951962 CNV duplication 24416366
nsv951963 CNV duplication 24416366

Variation tolerance for RAB27A Gene

Residual Variation Intolerance Score: 42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB27A Gene

Human Gene Mutation Database (HGMD)
RAB27A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB27A
Leiden Open Variation Database (LOVD)
RAB27A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB27A Gene

Disorders for RAB27A Gene

MalaCards: The human disease database

(23) MalaCards diseases for RAB27A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
griscelli syndrome, type 2
  • gs2
griscelli syndrome
  • chediak-higashi-like syndrome
piebald trait
  • pbt
hemophagocytic lymphohistiocytosis
  • haemophagocytic syndrome
chediak-higashi syndrome
  • chs
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RB27A_HUMAN
  • Griscelli syndrome 2 (GS2) [MIM:607624]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. {ECO:0000269 PubMed:10835631, ECO:0000269 PubMed:12446441, ECO:0000269 PubMed:12531900, ECO:0000269 PubMed:15548590}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for RAB27A

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 RAB27A: view

No data available for Genatlas for RAB27A Gene

Publications for RAB27A Gene

  1. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. (PMID: 10835631) Ménasché G … de Saint Basile G (Nature genetics 2000) 3 4 22 72
  2. Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. (PMID: 18311812) Donn R … Ramanan AV (Arthritis and rheumatism 2008) 3 22 40
  3. Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (PMID: 12531900) Bahadoran P … Ballotti R (The Journal of biological chemistry 2003) 3 4 22
  4. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. (PMID: 12446441) Menasche G … de Saint Basile G (Blood 2003) 3 4 22
  5. Cloning, mapping and characterization of the human RAB27A gene. (PMID: 10571040) Tolmachova T … Seabra MC (Gene 1999) 3 4 22

Products for RAB27A Gene

Sources for RAB27A Gene