TBL2 - transducin beta like 2 Gene

Homo sapiens

Also known as WBSCR13; WS-betaTRP

Gene ID: 26608 | Gene type: protein coding

About TBL2

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,567,537-73,578,579 (from NCBI)

This gene has 21 transcripts (splice variants), 202 orthologues, 26 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 54.0), thyroid (RPKM 6.5) and 21 other tissues.

Summary

This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

TBL2 Products(5)

mRNA	Protein	Name
NM_001362660.2	NP_001349589.1	transducin beta-like protein 2 isoform 2
NM_001362661.2	NP_001349590.1	transducin beta-like protein 2 isoform 3
NM_001362662.2	NP_001349591.1	transducin beta-like protein 2 isoform 3
NM_001362663.2	NP_001349592.1	transducin beta-like protein 2 isoform 3
NM_012453.4	NP_036585.1	transducin beta-like protein 2 isoform 1 precursor

TBL2 Protein Structure

WD40

0
100
200
300
400
447 a.a.

Protein Preferred Names

Protein Names

transducin beta-like protein 2

WS beta-transducin repeats protein

Related Diseases

Diseases

Alias

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Retinitis Pigmentosa 32

RP32	Retinitis Pigmentosa-32

Retinitis Pigmentosa 47

RP47	Retinitis Pigmentosa, Type 47

Abducens Palsy

Sixth Nerve Palsy	Abducens Nerve Palsy
Abducens Nerve Disease	Abducens Nerve Weakness
Lateral Rectus Muscle Denervation Paresis	Lateral Rectus Muscle Innervation Disorder
Sixth Cranial Nerve Disorder	6th Nerve Palsy
Abducens Nerve Diseases	Vith Nerve Disorder
Vith Nerve Paralysis	Cranial Mononeuropathy Vi
Cranial Nerve Vi Palsy	Sixth Cranial Nerve Palsy
Vi Nerve Palsy	Abducens Nerve Disorder
Abducens Sixth Nerve Palsy	Abducens Nerve Paralysis
Disease Or Disorder Of Abducent Nerve	Sixth Cranial Nerve Disease
Sixth Cranial Nerve Weakness	Disorder Of Sixth Cranial Nerve
Isolated Abducent Nerve Palsy	Atrophy Of Sixth Cranial Nerve
Paralysis Of Sixth Cranial Nerve

Williams-Beuren Region Duplication Syndrome

7q11.23 Duplication Syndrome	7q11.23 Microduplication Syndrome
Chromosome 7q11.23 Duplication Syndrome	Wbs Duplication Syndrome
Somerville-Van Der Aa Syndrome	Dup(7)(Q11.23)
Trisomy 7q11.23	William-Beuren Region Duplication Syndrome
Chromosome 7q11.23 Duplication

Supravalvular Aortic Stenosis

SVAS	Supravalvar Aortic Stenosis
Supravalvar Aortic Stenosis, Eisenberg Type	Aortic Supravalvular Stenosis
Aortic Stenosis, Supravalvular	Supra-Valvular Aortic Stenosis
Stenosis, Aortic Supravalvular	Stenosis, Supravalvular Aortic
Supravalvular Stenosis, Aortic	Aortic Stenosis Supravalvular

Neurosarcoidosis

Cerebral Sarcoidosis

Cauda Equina Syndrome

Cauda Equina

Polyradiculopathy

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-RS14264	TBL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TBL2	VGNC	VGNC:47162
Rattus norvegicus	TBL2	RGD	RGD:1595038
Bos taurus	TBL2	VGNC	VGNC:35658
Macaca mulatta	TBL2	VGNC	VGNC:78108
Mus musculus	TBL2	MGD	MGI:1351652
Felis catus	TBL2	VGNC	VGNC:80688

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