TBL1Y (transducin beta like 1 Y-linked)

2014-11-01  

Identity

HGNC
LOCATION
Yp11.2
LOCUSID
ALIAS
DFNY2,TBL1
FUSION GENES

Other Information

Locus ID:

NCBI: 90665
MIM: 400033
HGNC: 18502
Ensembl: ENSG00000092377

Variants:

dbSNP: 90665
ClinVar: 90665
TCGA: ENSG00000092377
COSMIC: TBL1Y

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092377ENST00000346432Q9BQ87
ENSG00000092377ENST00000346432A0A024R189
ENSG00000092377ENST00000355162Q9BQ87
ENSG00000092377ENST00000355162A0A024R189
ENSG00000092377ENST00000383032Q9BQ87
ENSG00000092377ENST00000383032A0A024R189
ENSG00000092377ENST00000651523A0A494C153

Expression (GTEx)

0
1
2
3
4
5
6

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
303414162019TBL1Y: a new gene involved in syndromic hearing loss.13
303414162019TBL1Y: a new gene involved in syndromic hearing loss.13
288532862017Y Chromosome Missing Protein, TBL1Y, May Play an Important Role in Cardiac Differentiation.21
288532862017Y Chromosome Missing Protein, TBL1Y, May Play an Important Role in Cardiac Differentiation.21
260705662015Exchange Factor TBL1 and Arginine Methyltransferase PRMT6 Cooperate in Protecting G Protein Pathway Suppressor 2 (GPS2) from Proteasomal Degradation.11
260705662015Exchange Factor TBL1 and Arginine Methyltransferase PRMT6 Cooperate in Protecting G Protein Pathway Suppressor 2 (GPS2) from Proteasomal Degradation.11
222803572012Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta.11
222803572012Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta.11
211892842011Transducin β-like protein 1 recruits nuclear factor κB to the target gene promoter for transcriptional activation.18
211892842011Transducin β-like protein 1 recruits nuclear factor κB to the target gene promoter for transcriptional activation.18
196057772009Association of Y chromosome haplotypes with autism.13
196057772009Association of Y chromosome haplotypes with autism.13
196057772009Association of Y chromosome haplotypes with autism.13
196057772009Association of Y chromosome haplotypes with autism.13
185116972008Genetic variants of Y chromosome are associated with a protective lipid profile in black men.14

Citation

Dessen P

TBL1Y (transducin beta like 1 Y-linked)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74546/tbl1y-(transducin-beta-like-1-y-linked)