Gene Gene information from NCBI Gene database.
Entrez ID 201475
Gene name RAB12, member RAS oncogene family
Gene symbol RAB12
Synonyms (NCBI Gene)
-
Chromosome 18
Chromosome location 18p11.22
miRNA miRNA information provided by mirtarbase database.
181
miRTarBase ID miRNA Experiments Reference
MIRT020325 hsa-miR-130b-3p Sequencing 20371350
MIRT021142 hsa-miR-186-5p Sequencing 20371350
MIRT025992 hsa-miR-148a-3p Sequencing 20371350
MIRT031886 hsa-miR-16-5p Proteomics 18668040
MIRT053406 hsa-miR-629-5p Microarray 23807165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 26824392
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616448 31332 ENSG00000206418
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6IQ22
Protein name Ras-related protein Rab-12 (EC 3.6.5.2)
Protein function The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to r
PDB 2IL1 , 8VH4 , 8VH5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 44 206 Ras family Domain
Sequence
Sequence length 244
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    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.).
11
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)
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
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 28965855
★☆☆☆☆
Found in Text Mining only
Myocardial Ischemia Myocardial Ischemia CTD_human_DG 16214533
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Parkinson Disease Parkinson disease Pubtator 39705401 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 28965855
★☆☆☆☆
Found in Text Mining only