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TBL2 - transducin beta like 2 Gene

Also Known as WBSCR13; WS-betaTRP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26608

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphoprotein binding	IDA IDA: Inferred from direct assay	25393282	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20562859	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	25393282	GOA
enables translation initiation factor binding	IPI IPI: Inferred from physical interaction	25393282	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to glucose starvation	IMP IMP: Inferred from mutant phenotype	25393282	GOA
involved in cellular response to hypoxia	IMP IMP: Inferred from mutant phenotype	25393282	GOA
involved in endoplasmic reticulum unfolded protein response	IMP IMP: Inferred from mutant phenotype	25393282	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	25393282	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

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 Set	/	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
Others	TBL2	NCBI