Gene Gene information from NCBI Gene database.
Entrez ID 5870
Gene name RAB6A, member RAS oncogene family
Gene symbol RAB6A
Synonyms (NCBI Gene)
RAB6
Chromosome 11
Chromosome location 11q13.4
Summary This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located a
miRNA miRNA information provided by mirtarbase database.
437
miRTarBase ID miRNA Experiments Reference
MIRT001509 hsa-miR-155-5p pSILAC 18668040
MIRT018651 hsa-miR-335-5p Microarray 18185580
MIRT019966 hsa-miR-375 Microarray 20215506
MIRT001509 hsa-miR-155-5p Proteomics;Other 18668040
MIRT021193 hsa-miR-186-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 25962623
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IEA
GO:0002080 Component Acrosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179513 9786 ENSG00000175582
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20340
Protein name Ras-related protein Rab-6A (Rab-6) (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 (PubMed:25962623). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form
PDB 1YZQ , 2GIL , 3BBP , 3CWZ , 4DKX , 5LEF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 15 175 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11071909}.
Sequence
Sequence length 208
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
COPI-independent Golgi-to-ER retrograde traffic
Retrograde transport at the Trans-Golgi-Network
TBC/RABGAPs
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.).
3
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
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
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 2501306
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 20655510, 8576122 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 22124028 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiomyopathies Cardiomyopathy BEFREE 11739277
★☆☆☆☆
Found in Text Mining only
Choroideremia Choroideremia BEFREE 24358126, 29707603
★☆☆☆☆
Found in Text Mining only
Critical Illness Critical illness Pubtator 38275610 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 29270202
★☆☆☆☆
Found in Text Mining only
Hashimoto Disease Hashimoto disease Pubtator 37545519 Associate
★☆☆☆☆
Found in Text Mining only
Immune System Diseases Immune System Diseases BEFREE 23810987
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Immunologic Deficiency Syndromes BEFREE 21147240
★☆☆☆☆
Found in Text Mining only