TBL1Y (transducin beta like 1 Y-linked)

2014-11-01  

Identity

HGNC
TBL1Y
LOCATION
Yp11.2
LOCUSID
90665
ALIAS
DFNY2,TBL1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
211892842011Transducin β-like protein 1 recruits nuclear factor κB to the target gene promoter for transcriptional activation.14
185116972008Genetic variants of Y chromosome are associated with a protective lipid profile in black men.12
196057772009Association of Y chromosome haplotypes with autism.9
196057772009Association of Y chromosome haplotypes with autism.9
222803572012Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta.7
260705662015Exchange Factor TBL1 and Arginine Methyltransferase PRMT6 Cooperate in Protecting G Protein Pathway Suppressor 2 (GPS2) from Proteasomal Degradation.6
288532862017Y Chromosome Missing Protein, TBL1Y, May Play an Important Role in Cardiac Differentiation.6
303414162019TBL1Y: a new gene involved in syndromic hearing loss.3

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