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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	94015
Gene name	Tweety family member 2
Gene symbol	TTYH2
Synonyms (NCBI Gene)	C17orf29
Chromosome	17
Chromosome location	17q25.1
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 tumorige

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017839	hsa-miR-335-5p	Microarray	18185580
MIRT1462782	hsa-miR-1470	CLIP-seq
MIRT1462783	hsa-miR-3926	CLIP-seq
MIRT1462784	hsa-miR-3938	CLIP-seq
MIRT1462785	hsa-miR-4667-3p	CLIP-seq
MIRT1462786	hsa-miR-548s	CLIP-seq
MIRT1462787	hsa-miR-642a	CLIP-seq
MIRT1462788	hsa-miR-1184	CLIP-seq
MIRT1462789	hsa-miR-1205	CLIP-seq
MIRT1462790	hsa-miR-148a	CLIP-seq
MIRT1462791	hsa-miR-148b	CLIP-seq
MIRT1462792	hsa-miR-152	CLIP-seq
MIRT1462793	hsa-miR-3158-5p	CLIP-seq
MIRT1462794	hsa-miR-3925-3p	CLIP-seq
MIRT1462795	hsa-miR-766	CLIP-seq
MIRT1555247	hsa-miR-3160-3p	CLIP-seq
MIRT1555248	hsa-miR-3188	CLIP-seq
MIRT1555249	hsa-miR-3192	CLIP-seq
MIRT1555250	hsa-miR-4300	CLIP-seq
MIRT1555251	hsa-miR-639	CLIP-seq
MIRT1555252	hsa-miR-920	CLIP-seq
MIRT2139189	hsa-miR-101	CLIP-seq
MIRT2139190	hsa-miR-1206	CLIP-seq
MIRT2139191	hsa-miR-144	CLIP-seq
MIRT2139192	hsa-miR-4324	CLIP-seq
MIRT2139193	hsa-miR-4329	CLIP-seq
MIRT2139194	hsa-miR-4786-5p	CLIP-seq
MIRT2139195	hsa-miR-485-3p	CLIP-seq
MIRT2139196	hsa-miR-569	CLIP-seq
MIRT2139197	hsa-miR-586	CLIP-seq
MIRT2139198	hsa-miR-591	CLIP-seq
MIRT2139199	hsa-miR-769-5p	CLIP-seq
MIRT2359921	hsa-miR-3925-5p	CLIP-seq
MIRT1462787	hsa-miR-642a	CLIP-seq
MIRT2396472	hsa-miR-4447	CLIP-seq
MIRT2396473	hsa-miR-4472	CLIP-seq
MIRT2396474	hsa-miR-4651	CLIP-seq
MIRT2396475	hsa-miR-541	CLIP-seq
MIRT2396476	hsa-miR-552	CLIP-seq
MIRT2396477	hsa-miR-608	CLIP-seq
MIRT2396478	hsa-miR-654-5p	CLIP-seq
MIRT2462655	hsa-miR-1203	CLIP-seq
MIRT2462656	hsa-miR-361-3p	CLIP-seq
MIRT2462657	hsa-miR-4679	CLIP-seq

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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:0005254	Function	Chloride channel activity	IDA	34385445
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	18577513, 30670146, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18260827, 18577513, 34385445
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0072320	Function	Volume-sensitive chloride channel activity	IBA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
608855	13877	ENSG00000141540

Q9BSA4

Protein name

Protein tweety homolog 2 (hTTY2) (Volume-regulated anion channel subunit TTYH2)

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

7P54 , 7P5M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04906	Tweety	27 → 433	Tweety	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed at higher level in brain and testis and at lower levels in heart, ovary, spleen and peripheral blood leukocytes. Up-regulated in 13 of 16 renal cell carcinoma samples examined. Up-regulated in colon carcinoma. {ECO:0000269|Pu

Sequence

MQAARVDYIAPWWVVWLHSVPHVGLRLQPVNSTFSPGDESYQESLLFLGLVAAVCLGLNL
IFLVAYLVCACHCRRDDAVQTKQHHSCCITWTAVVAGLICCAAVGVGFYGNSETNDGAYQ
LMYSLDDANHTFSGIDALVSGTTQKMKVDLEQHLARLSEIFAARGDYLQTLKFIQQMAGS
VVVQLSGLPVWREVTMELTKLSDQTGYVEYYRWLSYLLLFILDLVICLIACLGLAKRSKC
LLASMLCCGALSLLLSWASLAADGSAAVATSDFCVAPDTFILNVTEGQISTEVTRYYLYC
SQSGSSPFQQTLTTFQRALTTMQIQVAGLLQFAVPLFSTAEEDLLAIQLLLNSSESSLHQ
LTAMVDCRGLHKDYLDALAGICYDGLQGLLYLGLFSFLAALAFSTMICAGPRAWKHFTTR
NRDYDDIDDDDPFNPQAWRMAAHSPPRGQLHSFCSYSSGLGSQTSLQPPAQTISNAPVSE
YMNQAMLFGRNPRYENVPLIGRASPPPTYSPSMRATYLSVADEHLRHYGNQFPA

Sequence length

534

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colon Carcinoma	Colon Carcinoma	BEFREE	17569141, 30670146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17569141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17569141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17569141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11597145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26752167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30670146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17569141, 31181821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17569141, 30670146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31230749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	30670146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11597145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	11597145		★★★★★ ★☆☆☆☆ Found in Text Mining only

TTYH2 (tweety family member 2)