TBL1Y (transducin beta like 1 Y-linked)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
90665
Gene name Gene Name - the full gene name approved by the HGNC.
Transducin beta like 1 Y-linked
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBL1Y
Synonyms (NCBI Gene) Gene synonyms aliases
DFNY2, TBL1
Chromosome Chromosome number
Y
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Yp11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
400033 18502 ENSG00000092377
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Deafness Deafness, Y-linked 2, deafness, Y-linked 2 N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Albinism Ocular Associate 10330347
Amelogenesis Imperfecta Associate 33903958
Breast Neoplasms Stimulate 21189284
Breast Neoplasms Associate 30705280
Colorectal Neoplasms Associate 26071132
Deafness X Linked 1 Associate 10330347
Hearing Loss Associate 30341416
Hearing Loss Sensorineural Associate 10330347
Inflammation Associate 27129164
Neoplasm Metastasis Associate 30705280