TBL1Y (transducin beta like 1 Y-linked)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 90665
Gene name Transducin beta like 1 Y-linked
Gene symbol TBL1Y
Synonyms (NCBI Gene)
DFNY2TBL1
Chromosome Y
Chromosome location Yp11.2
Summary The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate prot
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs199659121 A>T Pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA
GO:0003714 Function Transcription corepressor activity IBA
GO:0003714 Function Transcription corepressor activity IEA
GO:0005515 Function Protein binding IPI 30341416
GO:0005634 Component Nucleus IDA 30341416
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
400033 18502 ENSG00000092377
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQ87
Protein name F-box-like/WD repeat-containing protein TBL1Y (Transducin beta-like protein 1Y) (Transducin-beta-like protein 1, Y-linked)
Protein function F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integra
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08513 LisH 6 → 32 LisH Domain
PF00400 WD40 169 → 207 WD domain, G-beta repeat Repeat
PF00400 WD40 220 → 263 WD domain, G-beta repeat Repeat
PF00400 WD40 266 → 304 WD domain, G-beta repeat Repeat
PF00400 WD40 349 → 387 WD domain, G-beta repeat Repeat
PF00400 WD40 442 → 480 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Fetal brain and prostate. Expressed in the cochlear spiral ganglion neurons, and in outer and inner hair cells (PubMed:30341416). {ECO:0000269|PubMed:12815422, ECO:0000269|PubMed:30341416}.
Sequence 
MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPSALISILQKGLQYV
EAEISINKDGTVFDSRPIESLSLIVAVIPDVVQMRQQAFGEKLTQQQASAAATEASAMAK
AATMTPAAISQQNPPKNREATVNGEENGAHEINNHSKPMEIDGDVEIPPNKATVLRGHES
EVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTS
LDWNSDGTLLAMGSYDGFARIWTENGNLASTLGQHKGPIFALKWNKKGNYVLSAGVDKTT
IIWDAHTGEAKQQFPFHSAPALDVDWQNNMTFASCSTDMCIHVCRLGCDHPVKTFQGHTN
EVNAIKWDPSGMLLASCSDDMTLKIWSMKQDACVHDLQAHSKEIYTIKWSPTGPATSNPN
SSIMLASASFDSTVRLWDVEQGVCTHTLMKHQEPVYSVAFSPDGKYLASGSFDKYVHIWN
TQSGSLVHSYQGTGGIFEVCWNARGDKVGASASDGSVCVLDL
Sequence length 522
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Wnt signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (5)
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 — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness, Y-linked 2 Uncertain significance; Benign; Likely benign ClinVar
ClinVar, Disgenet, HPO
ClinVar, Disgenet, HPO
ClinVar, Disgenet, HPO
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TBL1Y-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Albinism Ocular Ocular albinism Pubtator 10330347 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) Ocular Albinism With Sensorineural Deafness BEFREE 10330347
★★★★★
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta Pubtator 33903958 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic coarctation Aortic Coarctation BEFREE 22280357
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast adenocarcinoma Breast Adenocarcinoma BEFREE 21189284
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21189284, 30705280
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21189284 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30705280 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 26071132 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 18511697
★★★★★
★☆☆☆☆
Found in Text Mining only