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Gene Gene information from NCBI Gene database.
Entrez ID 5867
Gene name RAB4A, member RAS oncogene family
Gene symbol RAB4A
Synonyms (NCBI Gene)
HRES-1HRES-1/RAB4HRES1RAB4
Chromosome 1
Chromosome location 1q42.13
Summary This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role i
miRNA miRNA information provided by mirtarbase database.
291 Show/Hide all (291)
miRTarBase ID miRNA Experiments Reference
MIRT700351 hsa-miR-3929 HITS-CLIP 23313552
MIRT700350 hsa-miR-4419b HITS-CLIP 23313552
MIRT700349 hsa-miR-4478 HITS-CLIP 23313552
MIRT700348 hsa-miR-188-5p HITS-CLIP 23313552
MIRT700347 hsa-miR-6866-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37 Show/Hide all (37)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 15907487, 16034420, 17562788
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity TAS 2501306
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179511 9781 ENSG00000168118
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20338
Protein name Ras-related protein Rab-4A (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 1YU9 , 1Z0K , 2BMD , 2BME
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 15 → 176 Ras family Domain
Sequence
Sequence length 218
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Endocytosis Synthesis of PIPs at the plasma membrane
  TBC/RABGAPs
  RAB geranylgeranylation
  MET receptor recycling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 Reference Evidence Score
Thymoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (52)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 2895757, 9345377
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 10880397 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21669283, 31460748 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 12657672, 22262900, 28444573, 29602913
★★★★★
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid Syndrome BEFREE 18240231
★★★★★
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid syndrome Pubtator 18240231 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 10436175, 1280512, 7488288
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Marrow Diseases Bone Marrow Diseases BEFREE 25295378
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral cortex myoclonus Cerebral Cortex Myoclonus BEFREE 31401489
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 17493033
★★★★★
★☆☆☆☆
Found in Text Mining only