• Gene id: 80727

Gene Summary

• Gene Symbol: TTYH3   Gene   UCSC   Ensembl
• Gene name: tweety family member 3
• Alternate names: protein tweety homolog 3, hTTY3, tweety homolog 3,
• Gene location: 7p22.3 (2631985: 2664801)     Exons: 15     NC_000007.14
• Gene summary(Entrez): 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. [provided by RefSeq, Jul 2008]
• OMIM: 615880

Protein Summary

• Protein general information: Q9C0H2  
  • Name: Protein tweety homolog 3 (hTTY3)
  • Length: 523  
  • Mass: 57545
  • Tissue specificity: Expressed in excitable tissues. Expressed in the brain, heart, skeletal muscle, colon, spleen, kidney and peripheral blood leukocytes. {ECO
• Sequence:

  MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQALLLLGAAALACLALDLLFLLFYSFWLCCRRRKS
  EEHLDADCCCTAWCVIIATLVCSAGIAVGFYGNGETSDGIHRATYSLRHANRTVAGVQDRVWDTAVGLNHTAEPS
  LQTLERQLAGRPEPLRAVQRLQGLLETLLGYTAAIPFWRNTAVSLEVLAEQVDLYDWYRWLGYLGLLLLDVIICL
  LVLVGLIRSSKGILVGVCLLGVLALVISWGALGLELAVSVGSSDFCVDPDAYVTKMVEEYSVLSGDILQYYLACS
  PRAANPFQQKLSGSHKALVEMQDVVAELLRTVPWEQPATKDPLLRVQEVLNGTEVNLQHLTALVDCRSLHLDYVQ
  ALTGFCYDGVEGLIYLALFSFVTALMFSSIVCSVPHTWQQKRGPDEDGEEEAAPGPRQAHDSLYRVHMPSLYSCG
  SSYGSETSIPAAAHTVSNAPVTEYMSQNANFQNPRCENTPLIGRESPPPSYTSSMRAKYLATSQPRPDSSGSH

• Structural information:
  • Interpro: IPR006990  
  • CDD: cd07912
  • STRING: ENSP00000258796
• Other Databases: GeneCards:  TTYH3  Malacards:  TTYH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072320	volume-sensitive chloride channel activity	IBA	molecular function
GO:0005229	intracellular calcium activated chloride channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034707	chloride channel complex	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005229	intracellular calcium activated chloride channel activity	IDA	molecular function
GO:0006821	chloride transport	IDA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005254	chloride channel activity	IMP	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq