Gene Gene information from NCBI Gene database.
Entrez ID 7275
Gene name TUB bipartite transcription factor
Gene symbol TUB
Synonyms (NCBI Gene)
RDOBrd5
Chromosome 11
Chromosome location 11p15.4
Summary This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as
miRNA miRNA information provided by mirtarbase database.
334
miRTarBase ID miRNA Experiments Reference
MIRT021923 hsa-miR-128-3p Sequencing 20371350
MIRT022311 hsa-miR-124-3p Microarray 18668037
MIRT024147 hsa-miR-221-3p Sequencing 20371350
MIRT047219 hsa-miR-181c-5p CLASH 23622248
MIRT021923 hsa-miR-128-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IDA 28154160
GO:0005576 Component Extracellular region IEA
GO:0005634 Component Nucleus IDA 28154160
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus TAS 11000483
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601197 12406 ENSG00000166402
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P50607
Protein name Tubby protein homolog
Protein function Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Cou
PDB 1S31
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16322 Tub_N 29 237 Tubby N-terminal Family
PF01167 Tub 257 501 Tub family Domain
Sequence
Sequence length 506
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Retinal dystrophy and obesity Pathogenic; Likely pathogenic rs727502810, rs1589996458 RCV000149873
RCV000991211
★★★★☆
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
Autism spectrum disorder association ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
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
Amaurosis congenita of Leber, type 1 Leber congenital amaurosis BEFREE 16643894
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28919751, 29976237
★☆☆☆☆
Found in Text Mining only
Cataract Cataract CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathy Pubtator 36498982 Associate
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 36181111 Associate
★☆☆☆☆
Found in Text Mining only
Conductive hearing loss Hearing Loss HPO_DG
★☆☆☆☆
Found in Text Mining only
Cone Dystrophy Cone dystrophy Pubtator 24375934 Associate
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of penis Congenital Hypoplasia Of Penis HPO_DG
★☆☆☆☆
Found in Text Mining only