Gene Gene information from NCBI Gene database.
Entrez ID 80727
Gene name Tweety family member 3
Gene symbol TTYH3
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7p22.3
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. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
682
miRTarBase ID miRNA Experiments Reference
MIRT042128 hsa-miR-484 CLASH 23622248
MIRT036130 hsa-miR-1296-5p CLASH 23622248
MIRT707801 hsa-miR-410-3p HITS-CLIP 21572407
MIRT707800 hsa-miR-495-3p HITS-CLIP 21572407
MIRT707799 hsa-miR-5688 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0005225 Function Volume-sensitive anion channel activity IDA 34385445
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IBA
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IDA 16219661
GO:0005254 Function Chloride channel activity IDA 34385445
GO:0005254 Function Chloride channel activity IMP 15010458
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608919 22222 ENSG00000136295
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C0H2
Protein name Protein tweety homolog 3 (hTTY3) (Volume-regulated anion channel subunit TTYH3)
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 7P5C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04906 Tweety 25 430 Tweety Family
Tissue specificity TISSUE SPECIFICITY: Expressed in excitable tissues. Expressed in the brain, heart, skeletal muscle, colon, spleen, kidney and peripheral blood leukocytes. {ECO:0000269|PubMed:15010458}.
Sequence
Sequence length 523
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Stimuli-sensing channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CEREBRAL AMYLOID ANGIOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 35935583 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 31558800
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 31558800
★☆☆☆☆
Found in Text Mining only
Thyroid Neoplasms Thyroid cancer Pubtator 32737449 Associate
★☆☆☆☆
Found in Text Mining only
Turner Syndrome Turner syndrome Pubtator 30530863 Associate
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 36142409 Associate
★☆☆☆☆
Found in Text Mining only