TTYH1 (tweety family member 1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57348
Gene name Gene Name - the full gene name approved by the HGNC.
Tweety family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TTYH1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.42
Summary Summary of gene provided in NCBI Entrez Gene.
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+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript v
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IEA
GO:0005229 Function Intracellular calcium activated chloride channel activity IBA 21873635
GO:0005254 Function Chloride channel activity TAS
GO:0005381 Function Iron ion transmembrane transporter activity NAS 10950931
GO:0005509 Function Calcium ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605784 13476 ENSG00000167614
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H313
Protein name Protein tweety homolog 1 (hTTY1) (Volume-regulated anion channel subunit TTYH1)
Protein function Calcium-independent, swelling-dependent volume-regulated anion channel (VRAC-swell) which plays a pivotal role in the process of regulatory volume decrease (RVD) in the brain through the efflux of anions like chloride and organic osmolytes like
PDB 7P5J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04906 Tweety 26 → 435 Tweety Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, eye, ovary and testis, and at lower levels in muscle, placenta, liver and lung. {ECO:0000269|PubMed:17116230}.
Sequence
Sequence length 450
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Stimuli-sensing channels
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Pulmonary fibrosis Idiopathic Pulmonary Fibrosis rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899
View all (1 more)		 29066090
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Pulmonary Fibrosis Pulmonary Fibrosis GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Neoplasms Associate 31181821
Strabismus Associate 33435129
Triple Negative Breast Neoplasms Associate 31974598, 33879671