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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAB27A Gene

protein-coding   GIFtS: 69
GCID: GC15M055495

RAB27A, Member RAS Oncogene Family

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
RAB27A, Member RAS Oncogene Family1 2     HsT186762
RAB272 3     rab-272
GTP-Binding Protein Ram2 3     Ras-Related Protein Rab-27A2
GS22 5     Rab-273
RAM2 5     

External Ids:    HGNC: 97661   Entrez Gene: 58732   Ensembl: ENSG000000699747   OMIM: 6038685   UniProtKB: P511593   

Export aliases for RAB27A gene to outside databases

Previous GC identifers: GC15M051054 GC15M048542 GC15M053075 GC15M053211 GC15M053283 GC15M032321


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Peptide hormone metabolism and Clathrin-dependent protein traffic. GO annotations related to this gene include GTP binding and protein domain specific binding. An important paralog of this gene is RAB10.

UniProtKB/Swiss-Prot: RB27A_HUMAN, P51159
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB27A gene promoter:
         Bach1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): RAB27A promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB27A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB27A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15-q21.1   Ensembl cytogenetic band:  15q21.3   HGNC cytogenetic band: 15q15-q21.1

RAB27A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB27A gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M055495:  view genomic region     (about GC identifiers)

Start:
55,495,164 bp from pter      End:
55,611,311 bp from pter
Size:
116,148 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RB27A_HUMAN, P51159 (See protein sequence)
Recommended Name: Ras-related protein Rab-27A  
Size: 221 amino acids; 24868 Da
Subunit: Binds SYTL1, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5. Interacts with RPH3A and RPH3A (By similarity). Binds
MLPH and SYTL2. Interacts with UNC13D
Subcellular location: Membrane; Lipid-anchor. Melanosome. Late endosome. Lysosome. Note=Identified by mass
spectrometry in melanosome fractions from stage I to stage IV. Localizes to endosomal exocytic vesicles
Secondary accessions: O00195 Q6FI40 Q9UIR9 Q9Y5U3
Alternative splicing: 2 isoforms:  P51159-1   P51159-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAB27A: NX_P51159

Explore proteomics data for RAB27A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51159

  • RAB27A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAB27A Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_004571.2  NP_899057.1  NP_899058.1  NP_899059.1  

    ENSEMBL proteins: 
     ENSP00000379601   ENSP00000455012   ENSP00000456059   ENSP00000454695   ENSP00000458127  
     ENSP00000456536   ENSP00000457595   ENSP00000457517   ENSP00000337761  
    Reactome Protein details: P51159
    Human Recombinant Protein Products for RAB27A: 
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    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IEA--
    GO:0005622intracellular ----
    GO:0005764lysosome IDA15548590
    GO:0005770late endosome IDA17237785
    GO:0005794Golgi apparatus IEA--

    RAB27A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RAB: RAB, member RAS oncogene

    4 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P51159

    ProtoNet protein and cluster: P51159

    1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RB27A_HUMAN, P51159
    Similarity: Belongs to the small GTPase superfamily. Rab family


    RAB27A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RB27A_HUMAN, P51159
    Function: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and
    granule docking and priming at the immunologic synapse

         Genatlas biochemistry entry for RAB27A:
    RAB27A,RAS oncogene superfamily member,prenylated by REP1 and unprenylated in CHM patients with an alternatively
    polyadenylation sites

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity ISS--
    GO:0005515protein binding IPI15548590
    GO:0005525GTP binding ISS--
    GO:0019003GDP binding IDA--
    GO:0019904protein domain specific binding IEA--
         
    RAB27A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RAB27A:
     Decreased CXCL12 induced migra 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rab27a):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  nervous system  pigmentation 
     reproductive system  vision/eye 

    RAB27A for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RAB27A About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin Processing
    Peptide hormone metabolism0.39
    Insulin Processing0.39
    2Clathrin-dependent protein traffic
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    3Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    4Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    5Deregulation of Rab and Rab Effector Genes in Bladder Cancer
    Deregulation of Rab and Rab Effector Genes in Bladder Cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RAB27A
        Epithelial Tight Junctions

    2 GeneGo (Thomson Reuters) Pathways for RAB27A
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)

    1 BioSystems Pathway for RAB27A
        Deregulation of Rab and Rab Effector Genes in Bladder Cancer


    3        Reactome Pathways for RAB27A
        Insulin Processing
    Metabolism of proteins
    Peptide hormone metabolism



    RAB27A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAB27A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/41 Interacting proteins for RAB27A (P511592, 3 ENSP000003377614) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLPHQ9BV362, 3, ENSP000002646054MINT-3388073 MINT-3388107 I2D: score=6 STRING: ENSP00000264605
    C14orf1Q9UKR52, 3MINT-63846 I2D: score=5 
    COPS6Q7L5N12, 3MINT-63841 I2D: score=5 
    GDF9O603832, 3MINT-63839 I2D: score=5 
    KIAA1377Q9P2H02, 3MINT-63845 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0006605protein targeting IEA--
    GO:0006886intracellular protein transport ----
    GO:0006887exocytosis IDA18812475
    GO:0006913nucleocytoplasmic transport ----

    RAB27A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RAB27A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RAB27A (RB27A)

    5 Novoseek inferred chemical compound relationships for RAB27A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 51.2 7 16923811 (1), 12446441 (1), 16630545 (1), 12531900 (1)
    gdp 45.2 4 12446441 (1), 12006666 (1), 16630545 (1)
    sodium 0 3 16236259 (2), 16630545 (1)
    glucose 0 3 15690086 (2), 20008220 (1)
    silver 0 1 15632015 (1)

    Search CenterWatch for drugs/clinical trials and news about RAB27A / RB27A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAB27A gene (4 alternative transcripts): 
    NM_004580.4  NM_183234.2  NM_183235.2  NM_183236.2  

    Unigene Cluster for RAB27A:

    RAB27A, member RAS oncogene family
    Hs.654978  [show with all ESTs]
    Unigene Representative Sequence: NM_004580
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396307(uc002aco.3 uc002acp.3 uc002acq.3 uc002acr.3)
    ENST00000564609 ENST00000569493 ENST00000566877 ENST00000567380 ENST00000565972
    ENST00000563262 ENST00000568803 ENST00000567639 ENST00000565776 ENST00000561545
    ENST00000336787
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    Additional mRNA sequence: 

    AF125393.1 AF498953.1 AK312836.1 BC107680.1 BC132800.1 BC136423.1 CR457076.1 CR536496.1 
    CR541693.1 U38654.3 U57094.1 

    14 DOTS entries:

    DT.453964  DT.95144894  DT.100020791  DT.100783075  DT.100783078  DT.121055527  DT.95172375  DT.100703883 
    DT.100783077  DT.106353  DT.75149054  DT.95100695  DT.92432952  DT.95332837 

    24/152 AceView cDNA sequences (see all 152):

    BM800922 CR536496 AA278355 BM759182 NM_004580 BG760453 CA398159 NM_183235 
    AW080916 NM_183236 BQ776032 AA215624 BM557278 AV716186 BQ188333 BM472660 
    CD676702 CB159742 AW849487 AW468494 CR541693 BM313622 NM_183234 BQ678619 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RAB27A    About this scheme

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


    ECgene alternative splicing isoforms for RAB27A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAB27A expression in normal human tissues (normalized intensities)      RAB27A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCACAGTGAG
    RAB27A Expression
    About this image


    RAB27A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 3 entries
             autonomic/sympathetic/ganglion   
     
     Heart (Cardiovascular System)
             Primitive Heart Tube Cells Primitive Heart Tube
     
     Melanocytes (Integumentary System)
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Epidermis (Integumentary System)
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Blood (Hematopoietic System)
             granulocyte-monocyte progenitors   

    See RAB27A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB27A

    SOURCE GeneReport for Unigene cluster: Hs.654978

    UniProtKB/Swiss-Prot: RB27A_HUMAN, P51159
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RAB27A gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab27a1 , 5 RAB27A, member RAS oncogene family1, 5 88.08(n)1
    95.93(a)1
      9 (40.08 cM)5
    118911  NM_023635.51  NP_076124.11 
     730448655 
    chicken
    (Gallus gallus)
    Aves RAB27A1 RAB27A, member RAS oncogene family 81.15(n)
    92.31(a)
      415410  NM_001168705.1  NP_001162176.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB27A6
    Uncharacterized protein
    84(a)
    1 ↔ 1
    AAWZ02036658(721-2420)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.80982 Xenopus laevis transcribed sequence with moderate similarity more 82.19(n)    CA986516.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rab27a1 RAB27A, member RAS oncogene family 72.4(n)
    83.71(a)
      570907  NM_001030257.1  NP_001025428.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta EG:80H7.43
    Rab271
    GTP binding3
    CG14791-PB1
    62(a)3
    63.07(n)1
    65.91(a)1
      311031  NM_130565.31  NP_569921.11 
    worm
    (Caenorhabditis elegans)
    Secernentea aex-61 Protein AEX-6 59.51(n)
    66.49(a)
      173223  NM_060975.2  NP_493376.1 


    ENSEMBL Gene Tree for RAB27A (if available)
    TreeFam Gene Tree for RAB27A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB27A gene
    RAB102  RAB3B2  RAB27B2  RAB8A2  RAB3D2  RAB3A2  RAB8B2  RAB352  
    RAB1B2  RAB122  RAB1A2  RAB132  RAB3C2  
    18/97 SIMAP similar genes for RAB27A using alignment to 8 protein entries:     RB27A_HUMAN (see all proteins) (see all similar genes):
    RAB27B    DKFZp686J06205    rab1b    RAB3A    RAB8B    RAB13
    RAB3D    RAB3C    RAB15    RAB8A    RAB3B    RAB10
    RAB1C    RAB26    RAB37    RAB35    RAB17    RAB1B

    RAB27A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2097 SNPs in RAB27A are shown (see all 2097)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0113344
    Griscelli syndrome 2 (GS2)4--see VAR_0113342 L P mis40--------
    VAR_0113354
    Griscelli syndrome 2 (GS2)4--see VAR_0113352 A P mis40--------
    rs289381761,2,4
    CGriscelli syndrome 2 (GS2)4 pathogenic135585384(-) AGTTAG/TGGGAC 8 G W mis10--------
    rs1048944991,2
    Cpathogenic135578859(-) CACTCC/GCAGAG 8 P A mis10--------
    rs1048944981,2
    Cpathogenic135578924(-) AGTGCC/TGTGTG 8 P L mis10--------
    rs1048945001,2
    Cpathogenic135578961(-) AGCTAC/TAGATG 8 Q * stg10--------
    rs1048944971,2
    C,Fpathogenic135583654(-) CGACAG/CCGTTC 8 /P /A mis11Minor allele frequency- C:0.00NA 4550
    rs1998730731,2
    --32320093(+) AGCCT-/CCCAA 
            
    GTAGC
    4 -- ds50010--------
    rs114118631,2
    C--32321048(+) TTTTT-/ATTTTT 4 -- ut310--------
    rs1122774031,2
    C--32326109(+) GGAAATCTTTCCCACAA
    GTCCCTGGAAG
    /-
    ACTTT
    4 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for RAB27A (55495164 - 55611311 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RAB27A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2666165CNV Deletion23128226
    dgv2386n71CNV Gain21882294


    Human Gene Mutation Database (HGMD): RAB27A

    Locus Specific Mutation Databases (LSDB): RAB27A
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RAB27A
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB27A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603868   
    OMIM disorders: 607624  
    UniProtKB/Swiss-Prot: RB27A_HUMAN, P51159
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/32 diseases for RAB27A (see all 32):    About MalaCards
    griscelli syndrome type 2    griscelli syndrome    chediak-higashi syndrome    piebaldism
    t lymphocyte deficiency    choroideremia    systemic onset juvenile idiopathic arthritis    hemophagocytic lymphohistiocytosis
    pancytopenia    hermansky-pudlak syndrome    albinism    eosinophilia
    was-related disorders    microphthalmia    neutropenia    choroiditis
    hyperglycemia    esophageal squamous cell carcinoma    esophagitis    melanoma

    3 diseases from the University of Copenhagen DISEASES database for RAB27A:
    Hemophagocytic lymphohistiocytosis     Choroideremia     Autosomal recessive disease

    RAB27A for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for RAB27A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    griscelli syndrome, type 2 97.4 11 20370853 (2), 19953648 (2), 16278825 (1), 12446441 (1) (see all 8)
    piebaldism 95.1 10 15713878 (1), 15163896 (1), 20370853 (1), 12446441 (1) (see all 8)
    lymphohistiocytosis hemophagocytic 75.9 5 18311812 (1), 11571516 (1), 16278825 (1), 18991284 (1) (see all 5)
    familial hemophagocytic lymphohistiocytosis 71.3 4 19704116 (1), 16962048 (1)
    chediak-higashi syndrome 66.9 2 17088644 (1), 16962048 (1)
    immunodeficiency 32.2 7 15713878 (1), 11571516 (1), 19704116 (1), 15690086 (1) (see all 6)
    melanoma 17.7 6 11773082 (2), 9066979 (1), 18281284 (1)
    tumors 0 2 19212825 (1)

    Genetic Association Database (GAD): RAB27A
    Human Genome Epidemiology (HuGE) Navigator: RAB27A (3 documents)

    Export disorders for RAB27A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAB27A gene, integrated from 9 sources (see all 156):
    (articles sorted by number of sources associating them with RAB27A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. (PubMed id 7592656)1, 2, 3 Seabra M.C.... Anant J.S. (1995)
    2. Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (PubMed id 12531900)1, 2, 9 Bahadoran P....Ballotti R. (2003)
    3. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. (PubMed id 12446441)1, 2, 9 Menasche G.... de Saint Basile G. (2003)
    4. Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets. (PubMed id 9066979)1, 2, 9 Chen D.... Gahl W.A. (1997)
    5. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. (PubMed id 10835631)1, 2, 9 Menasche G....de Saint Basile G. (2000)
    6. Cloning, mapping and characterization of the human RAB27A gene. (PubMed id 10571040)1, 2, 9 Tolmachova T....Seabra M.C. (1999)
    7. Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. (PubMed id 18311812)1, 4, 9 Donn R....Ramanan A.V. (2008)
    8. A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion. (PubMed id 18812475)1, 2 Menasche G....de Saint Basile G. (2008)
    9. Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. (PubMed id 17237785)1, 2 Menager M.M.... de Saint Basile G. (2007)
    10. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5873 HGNC: 9766 AceView: RAB27A Ensembl:ENSG00000069974 euGenes: HUgn5873
    ECgene: RAB27A H-InvDB: RAB27A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAB27A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB27A Genetics and Cytogenetics in Oncology and Haematology
    RAB27Abasehttp://bioinf.uta.fi/RAB27Abase/
    Mutations of the RAB27A genehttp://www.retina-international.org/files/sci-news/rab27mut.htm

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAB27A gene:
    Search GeneIP for patents involving RAB27A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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