TTYH2 - tweety family member 2 Gene

Also Known as C17orf29

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 94015

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 References 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 References 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

Tweety: Tweety (27 - 433)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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 Set / 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
Others TTYH2 NCBI