Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

Show/Hide all(43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005225	Function	Volume-sensitive anion channel activity	IDA	34385445
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IDA	34385445
GO:0005254	Function	Chloride channel activity	TAS
GO:0005381	Function	Iron ion transmembrane transporter activity	NAS	10950931
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	28298427, 32296183, 32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	34385445
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IDA	16219661
GO:0006821	Process	Chloride transport	IEA
GO:0006826	Process	Iron ion transport	NAS	10950931
GO:0007155	Process	Cell adhesion	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0010467	Process	Gene expression	IEA
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0015813	Process	L-glutamate transmembrane transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10950931
GO:0022008	Process	Neurogenesis	IEA
GO:0030868	Component	Smooth endoplasmic reticulum membrane	IBA
GO:0030868	Component	Smooth endoplasmic reticulum membrane	IEA
GO:0031527	Component	Filopodium membrane	IEA
GO:0031589	Process	Cell-substrate adhesion	IEA
GO:0032433	Component	Filopodium tip	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034707	Component	Chloride channel complex	IEA
GO:0034755	Process	Iron ion transmembrane transport	IEA
GO:0045202	Component	Synapse	IEA
GO:0046847	Process	Filopodium assembly	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072320	Function	Volume-sensitive chloride channel activity	IBA
GO:0072320	Function	Volume-sensitive chloride channel activity	IDA	16219661
GO:0098609	Process	Cell-cell adhesion	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
605784	13476	ENSG00000167614

Protein

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

MGAPPGYRPSAWVHLLHQLPRADFQLRPVPSVFAPQEQEYQQALLLVAALAGLGLGLSLI
FIAVYLIRFCCCRPPEPPGSKIPSPGGGCVTWSCIVALLAGCTGIGIGFYGNSETSDGVS
QLSSALLHANHTLSTIDHLVLETVERLGEAVRTELTTLEEVLEPRTELVAAARGARRQAE
AAAQQLQGLAFWQGVPLSPLQVAENVSFVEEYRWLAYVLLLLLELLVCLFTLLGLAKQSK
WLVIVMTVMSLLVLVLSWGSMGLEAATAVGLSDFCSNPDPYVLNLTQEETGLSSDILSYY
LLCNRAVSNPFQQRLTLSQRALANIHSQLLGLEREAVPQFPSAQKPLLSLEETLNVTEGN
FHQLVALLHCRSLHKDYGAALRGLCEDALEGLLFLLLFSLLSAGALATALCSLPRAWALF
PPSDDYDDTDDDDPFNPQESKRFVQWQSSI

Sequence length

450

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Neoplasms	Associate	31181821
Strabismus	Associate	33435129
Triple Negative Breast Neoplasms	Associate	31974598, 33879671

TTYH1 (tweety family member 1)