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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
193
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Retinal dystrophy and obesity Pathogenic; Likely pathogenic rs727502810, rs1589996458 RCV000149873
RCV000991211
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder association rs769088023 RCV001291501
Cervical cancer Conflicting classifications of pathogenicity rs150402974 RCV005909405
Clear cell carcinoma of kidney Uncertain significance rs145623562 RCV005913604
Retinal dystrophy Uncertain significance; Conflicting classifications of pathogenicity rs369363661, rs147246689, rs1040410003, rs370188104 RCV004815450
RCV004817119
RCV001073609
RCV004813914
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Age Related Nuclear Associate 32337810
Ciliopathies Associate 36498982
Colonic Neoplasms Associate 36181111
Cone Dystrophy Associate 24375934
Deafness Associate 16643894
Dehydration Associate 36380055
Hearing Loss Sensorineural Associate 18183286
Insulin Resistance Associate 18183286
Leber Congenital Amaurosis Associate 16643894
Obesity Associate 16443771, 16643894, 18183286, 24375934, 33983957