Gene Gene information from NCBI Gene database.
Entrez ID 22836
Gene name Rho related BTB domain containing 3
Gene symbol RHOBTB3
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q15
Summary RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]
miRNA miRNA information provided by mirtarbase database.
1349
miRTarBase ID miRNA Experiments Reference
MIRT024323 hsa-miR-215-5p Microarray 19074876
MIRT026931 hsa-miR-192-5p Microarray 19074876
MIRT027831 hsa-miR-98-5p Microarray 19088304
MIRT700200 hsa-miR-4760-3p HITS-CLIP 23313552
MIRT700199 hsa-miR-6782-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 19490898, 25416956, 31515488, 32296183, 32814053
GO:0005524 Function ATP binding IDA 19490898
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607353 18757 ENSG00000164292
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94955
Protein name Rho-related BTB domain-containing protein 3 (EC 3.6.1.-)
Protein function Rab9-regulated ATPase required for endosome to Golgi transport. Involved in transport vesicle docking at the Golgi complex, possibly by participating in release M6PRBP1/TIP47 from vesicles to permit their efficient docking and fusion at the Golg
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 47 195 Ras family Domain
PF00651 BTB 244 383 BTB/POZ domain Domain
PF00651 BTB 410 518 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in neural and cardiac tissues, pancreas, placenta and testis. {ECO:0000269|PubMed:12426103}.
Sequence
Sequence length 611
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Retrograde transport at the Trans-Golgi-Network
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 Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS 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
Alzheimer Disease Alzheimer disease Pubtator 33188687 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35698915 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 26215701
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 35650643 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 37045834 Inhibit
★☆☆☆☆
Found in Text Mining only
Heart Failure Heart failure Pubtator 32852391 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 36102723 Associate
★☆☆☆☆
Found in Text Mining only