TBL1Y - transducin beta like 1 Y-linked Gene

Homo sapiens

Also known as TBL1; DFNY2

Gene ID: 90665 | Gene type: protein coding

About TBL1Y

Cytogenetic location: Yp11.2 Genomic coordinates (GRCh38): Y:6,909,865-7,105,688 (from NCBI)

This gene has 4 transcripts (splice variants), 123 orthologues, 2 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

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 protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

TBL1Y Products(3)

mRNA	Protein	Name
NM_033284.2	NP_150600.1	F-box-like/WD repeat-containing protein TBL1Y
NM_134258.2	NP_599020.1	F-box-like/WD repeat-containing protein TBL1Y
NM_134259.2	NP_599021.1	F-box-like/WD repeat-containing protein TBL1Y

TBL1Y Protein Structure

LisH

WD40

0
100
200
300
400
522 a.a.

Protein Preferred Names

Protein Names

F-box-like/WD repeat-containing protein TBL1Y

transducin beta-like 1

Related Diseases

Diseases

Alias

Deafness, Y-Linked 2

DFNY2

Y-Linked Deafness 2

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14263	TBL1Y Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TBL1Y	VGNC	VGNC:101432
Mus musculus	TBL1Y	MGD	MGI:1336172

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