Gene Gene information from NCBI Gene database.
Entrez ID 5873
Gene name RAB27A, member RAS oncogene family
Gene symbol RAB27A
Synonyms (NCBI Gene)
GS2HsT18676RAB27RAM
Chromosome 15
Chromosome location 15q21.3
Summary 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.
17
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.
370
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 ImmunoblotImmunohistochemistryLuciferase reporter assayqRT-PCR 22948084
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001750 Component Photoreceptor outer segment IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603868 9766 ENSG00000069974
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autoinflammatory syndrome Likely pathogenic; Pathogenic rs755338751, rs761810607, rs1478402636, rs753966933, rs200956636 RCV002264291
RCV002264502
RCV002264504
RCV002263695
RCV002263709
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Griscelli syndrome Pathogenic rs770601673 RCV000606194
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Griscelli syndrome type 2 Pathogenic; Likely pathogenic rs756644243, rs75258234, rs755338751, rs1896185846, rs765369750, rs1896186645, rs766632505, rs2140958324, rs757849893, rs2140958637, rs2140958268, rs761810607, rs1351114357, rs2140958498, rs757349638
View all (26 more)
RCV001939967
RCV001387369
RCV001387346
RCV001824257
RCV002024285
View all (38 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multisystem inflammatory syndrome in children Pathogenic rs104894500 RCV001778648
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acrocephalopolydactylous Dysplasia Acrocephalopolydactyly GENOMICS_ENGLAND_DG 18489042
★☆☆☆☆
Found in Text Mining only
Albinism Albinism BEFREE 25312756, 27931534
★☆☆☆☆
Found in Text Mining only
Albinism Albinism Pubtator 35488210 Associate
★☆☆☆☆
Found in Text Mining only
Albinism Oculocutaneous Oculocutaneous albinism Pubtator 25312756 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21669283 Stimulate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 25431337
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 22724020, 29088864
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18337447, 20484105, 28928832, 30081925
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18337447, 26178901, 34623384 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 22553406, 26305877, 34777698, 36303180 Associate
★☆☆☆☆
Found in Text Mining only