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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
328
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoinflammatory syndrome Likely pathogenic; Pathogenic rs755338751, rs761810607, rs1478402636, rs753966933, rs200956636 RCV002264291
RCV002264502
RCV002264504
RCV002263695
RCV002263709
Griscelli syndrome Pathogenic rs770601673 RCV000606194
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
RCV002003182
RCV001909428
RCV002037857
RCV002251778
RCV002251779
RCV002251781
RCV003101471
RCV003041238
RCV003058475
RCV003064283
RCV003058476
RCV002691117
RCV002833957
RCV000006348
RCV000006349
RCV000006352
RCV000006353
RCV000006354
RCV000006356
RCV002904302
RCV002988439
RCV003228216
RCV003316894
RCV003505961
RCV003616774
RCV003616939
RCV003989945
RCV000477784
RCV000850516
RCV000499859
RCV000644917
RCV001860238
RCV000705980
RCV000793635
RCV001222124
RCV001215059
RCV005002065
RCV001251148
Multisystem inflammatory syndrome in children Pathogenic rs104894500 RCV001778648
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign; Uncertain significance rs113895512, rs200031368 RCV005900257
RCV005909165
Clear cell carcinoma of kidney Benign; Likely benign rs113895512 RCV005900258
Colon adenocarcinoma Uncertain significance rs145253993 RCV005900256
Nonpapillary renal cell carcinoma Uncertain significance rs144492641 RCV005913742
Associations from Text MiningDisease associations identified through Pubtator
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