Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5873
Gene name Gene Name - the full gene name approved by the HGNC.
RAB27A, member RAS oncogene family
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAB27A
Synonyms (NCBI Gene) Gene synonyms aliases
GS2, HsT18676, RAB27, RAM
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GS2
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.3
Summary Summary of gene provided in NCBI Entrez 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 Griscell
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28938176 A>C Pathogenic Missense variant, coding sequence variant
rs104894497 C>G,T Likely-pathogenic, uncertain-significance Missense variant, coding sequence variant
rs104894498 A>G Pathogenic Missense variant, coding sequence variant
rs104894499 C>G,T Pathogenic Missense variant, coding sequence variant
rs104894500 G>A,T Pathogenic Missense variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022236 hsa-miR-124-3p Microarray 18668037
MIRT024773 hsa-miR-215-5p Microarray 19074876
MIRT026172 hsa-miR-192-5p Microarray 19074876
MIRT028890 hsa-miR-26b-5p Microarray 19088304
MIRT053752 hsa-miR-31-5p Immunoblot, Immunohistochemistry, Luciferase reporter assay, qRT-PCR 22948084
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IEA
GO:0003924 Function GTPase activity ISS
GO:0005515 Function Protein binding IPI 12897212, 15186776, 15548590, 16278825, 17045265, 18266782, 18812475, 22899725, 25312756, 30771381, 32296183
GO:0005525 Function GTP binding IDA 9066979
GO:0005525 Function GTP binding ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603868 9766 ENSG00000069974
Protein
UniProt ID P51159
Protein name Ras-related protein Rab-27A (Rab-27) (EC 3.6.5.2) (GTP-binding protein Ram)
Protein 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 sec
PDB 6HUF , 7OPP , 7OPQ , 7OPR , 8P3G , 8P3H , 8P3I , 8P3J , 8P3K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 11 183 Ras family Domain
Tissue specificity 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 cel
Sequence
Sequence length 221
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Glioma Glioma rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499
View all (13 more)
30714141
Griscelli syndrome GRISCELLI SYNDROME, TYPE 2, Griscelli syndrome type 2 rs119473031, rs28938176, rs1595695268, rs104894498, rs104894499, rs1595700039, rs104894500, rs764371254, rs786205551, rs786205641, rs767481076, rs753966933, rs200956636, rs1555394745, rs770601673
View all (4 more)
10835631, 18397837, 15548590, 25544030, 12531900, 15163896, 12446441, 23160464, 19030707, 19953648, 16278825, 26880764, 25500851, 15475639, 25071262
View all (1 more)
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075
Neutropenia Neutropenia rs879253882
Unknown
Disease term Disease name Evidence References Source
Melanoma Melanoma SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Acrocephalopolydactylous Dysplasia Associate 12058346
Adenocarcinoma Associate 36759514
Albinism Associate 35488210
Albinism Oculocutaneous Associate 25312756
Albuminuria Stimulate 32567349
Alzheimer Disease Stimulate 21669283
Breast Neoplasms Associate 18337447, 26178901, 34623384
Carcinoma Hepatocellular Associate 22553406, 26305877, 34777698, 36303180
Carcinoma Non Small Cell Lung Associate 30480360, 35136028
Chediak Higashi Syndrome Associate 19030707, 25425525