TTYH2 - tweety family member 2 Gene

Homo sapiens

Also known as C17orf29

Gene ID: 94015 | Gene type: protein coding

About TTYH2

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:74,213,571-74,262,020 (from NCBI)

This gene has 9 transcripts (splice variants), 283 orthologues and 2 paralogues. Biased expression in brain (RPKM 43.8), testis (RPKM 8.8) and 11 other tissues.

Summary

This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

TTYH2 Products(3)

mRNA	Protein	Name
NM_001330453.2	NP_001317382.1	protein tweety homolog 2 isoform 3
NM_032646.6	NP_116035.5	protein tweety homolog 2 isoform 1
NM_052869.1	NP_443101.1	protein tweety homolog 2 isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables chloride channel activity	IDA IDA: Inferred from direct assay	34385445	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18577513	GOA
NOT enables volume-sensitive anion channel activity	IDA IDA: Inferred from direct assay	34385445	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	18260827	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

TTYH2 Protein Structure

Tweety

0
100
200
300
400
500
534 a.a.

Protein Preferred Names

Protein Names

protein tweety homolog 2

hTTY2

TTYH2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TTYH2	Q9BSA4	COPB1	Homo sapiens	P53618	Y2H	30670146
Intra	TTYH2	Q9BSA4	COPB1	Homo sapiens	P53618	BiFC	30670146
Intra	TTYH2	Q9BSA4	COPB1	Homo sapiens	P53618	Anti Tag CoIP	30670146
Intra	TTYH2	Q9BSA4	COPB1	Homo sapiens	P53618	Anti Bait CoIP	30670146

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Charcot-Marie-Tooth Disease, Axonal, Type 2cc

Charcot-Marie-Tooth Disease Axonal Type 2cc	CMT2CC
Charcot-Marie-Tooth Neuropathy, Type 2cc	Charcot-Marie-Tooth Neuropathy Type 2cc
Charcot-Marie-Tooth Disease 2cc

Immunodeficiency 50

Combined Immunodeficiency Due To Moesin Deficiency	IMD50
Immunodeficiency 50, X-Linked Recessive	Cid Due To Moesin Deficiency
Msn-Related Combined Immunodeficiency	X-Linked Moesin-Associated Immunodeficiency
Immunodeficiency 50 X Linked Recessive

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-RS15242	TTYH2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TTYH2	MGD	MGI:2157091
Canis familiaris	TTYH2	VGNC	VGNC:49681
Rattus norvegicus	TTYH2	RGD	RGD:1562969
Macaca mulatta	TTYH2	VGNC	VGNC:78939
Bos taurus	TTYH2	VGNC	VGNC:36501
Felis catus	TTYH2	VGNC	VGNC:66694

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