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 tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] See more...

Aliases for TTYH2 Gene

Aliases for TTYH2 Gene

  • Tweety Family Member 2 2 3 5
  • Protein Tweety Homolog 2 3 4
  • C17orf29 3 4
  • HTTY2 3 4
  • Tweety (Drosophila) Homolog 2 2
  • Tweety Homolog 2 (Drosophila) 2
  • Tweety Homolog 2 3

External Ids for TTYH2 Gene

Previous GeneCards Identifiers for TTYH2 Gene

  • GC17P072231
  • GC17P075267
  • GC17P072673
  • GC17P072806
  • GC17P069721
  • GC17P067620

Summaries for TTYH2 Gene

Entrez Gene Summary for TTYH2 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+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TTYH2 Gene

TTYH2 (Tweety Family Member 2) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include chloride channel activity. An important paralog of this gene is TTYH3.

UniProtKB/Swiss-Prot Summary for TTYH2 Gene

  • Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. May be involved in cell proliferation and cell aggregation.

Additional gene information for TTYH2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTYH2 Gene

Genomics for TTYH2 Gene

GeneHancer (GH) Regulatory Elements for TTYH2 Gene

Promoters and enhancers for TTYH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTYH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTYH2 gene promoter:
  • AP-4
  • c-Myc
  • GATA-1
  • GATA-2
  • Max
  • Max1
  • MZF-1
  • Pax-4a
  • RSRFC4

Genomic Locations for TTYH2 Gene

Genomic Locations for TTYH2 Gene
chr17:74,213,557-74,262,020
(GRCh38/hg38)
Size:
48,464 bases
Orientation:
Plus strand
chr17:72,209,653-72,258,159
(GRCh37/hg19)
Size:
48,507 bases
Orientation:
Plus strand

Genomic View for TTYH2 Gene

Genes around TTYH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTYH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTYH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTYH2 Gene

Proteins for TTYH2 Gene

  • Protein details for TTYH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSA4-TTYH2_HUMAN
    Recommended name:
    Protein tweety homolog 2
    Protein Accession:
    Q9BSA4
    Secondary Accessions:
    • B3KX97
    • Q3B7H8
    • Q3B7R9
    • Q6AWB4
    • Q8NBB7
    • Q96PK1

    Protein attributes for TTYH2 Gene

    Size:
    534 amino acids
    Molecular mass:
    58772 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH05168.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC03579.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTYH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTYH2 Gene

Post-translational modifications for TTYH2 Gene

  • Glycosylation at Asn31 and Asn283
  • Modification sites at PhosphoSitePlus

Other Protein References for TTYH2 Gene

No data available for DME Specific Peptides for TTYH2 Gene

Domains & Families for TTYH2 Gene

Gene Families for TTYH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for TTYH2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TTYH2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59709, highly similar to Homo sapiens tweety homolog 2 (TTYH2), transcript variant 1, mRNA (B4DKD1_HUMAN)
  • Protein tweety homolog 2 (TTYH2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BSA4

UniProtKB/Swiss-Prot:

TTYH2_HUMAN :
  • Belongs to the tweety family.
Family:
  • Belongs to the tweety family.
genes like me logo Genes that share domains with TTYH2: view

Function for TTYH2 Gene

Molecular function for TTYH2 Gene

UniProtKB/Swiss-Prot Function:
Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. May be involved in cell proliferation and cell aggregation.

Phenotypes From GWAS Catalog for TTYH2 Gene

Gene Ontology (GO) - Molecular Function for TTYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005229 intracellular calcium activated chloride channel activity IBA 21873635
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding IPI 18577513
GO:0072320 volume-sensitive chloride channel activity IBA 21873635
genes like me logo Genes that share ontologies with TTYH2: view
genes like me logo Genes that share phenotypes with TTYH2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTYH2 Gene

Localization for TTYH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTYH2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTYH2 gene
Compartment Confidence
plasma membrane 4
extracellular 1

Gene Ontology (GO) - Cellular Components for TTYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with TTYH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TTYH2 Gene

Pathways & Interactions for TTYH2 Gene

genes like me logo Genes that share pathways with TTYH2: view

Pathways by source for TTYH2 Gene

Gene Ontology (GO) - Biological Process for TTYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0034220 ion transmembrane transport IEA --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with TTYH2: view

No data available for SIGNOR curated interactions for TTYH2 Gene

Drugs & Compounds for TTYH2 Gene

(1) Drugs for TTYH2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloride ion Experimental Pharma 0
genes like me logo Genes that share compounds with TTYH2: view

Transcripts for TTYH2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTYH2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c
SP1: - - - - - -
SP2: - - -
SP3: -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for TTYH2 Gene

GeneLoc Exon Structure for
TTYH2
ECgene alternative splicing isoforms for
TTYH2

Expression for TTYH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTYH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTYH2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x7.2) and Brain - Substantia nigra (x5.1).

Protein differential expression in normal tissues from HIPED for TTYH2 Gene

This gene is overexpressed in Breast (57.7) and Colon muscle (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TTYH2 Gene



NURSA nuclear receptor signaling pathways regulating expression of TTYH2 Gene:

TTYH2

SOURCE GeneReport for Unigene cluster for TTYH2 Gene:

Hs.27935

mRNA Expression by UniProt/SwissProt for TTYH2 Gene:

Q9BSA4-TTYH2_HUMAN
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.

Evidence on tissue expression from TISSUES for TTYH2 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with TTYH2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTYH2 Gene

Orthologs for TTYH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTYH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTYH2 33 32
  • 96.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TTYH2 33 32
  • 86.85 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTYH2 33 32
  • 85.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ttyh2 17 33 32
  • 84.4 (n)
rat
(Rattus norvegicus)
Mammalia Ttyh2 32
  • 84.02 (n)
oppossum
(Monodelphis domestica)
Mammalia TTYH2 33
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTYH2 33
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTYH2 33 32
  • 75.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTYH2 33
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttyh2 32
  • 68.66 (n)
MGC76161 32
African clawed frog
(Xenopus laevis)
Amphibia ttyh2-prov 32
zebrafish
(Danio rerio)
Actinopterygii ttyh2l 33 32
  • 66.29 (n)
OneToMany
ttyh2 33
  • 66 (a)
OneToMany
wufi03f07 32
fruit fly
(Drosophila melanogaster)
Insecta bbx 34
  • 28 (a)
CG3638 33
  • 16 (a)
ManyToMany
tty 33 34
  • 13 (a)
ManyToMany
Species where no ortholog for TTYH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TTYH2 Gene

ENSEMBL:
Gene Tree for TTYH2 (if available)
TreeFam:
Gene Tree for TTYH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTYH2: view image

Paralogs for TTYH2 Gene

Paralogs for TTYH2 Gene

(3) SIMAP similar genes for TTYH2 Gene using alignment to 5 proteins:

  • TTYH2_HUMAN
  • B4DKD1_HUMAN
  • J3KRY9_HUMAN
  • J3KSH7_HUMAN
  • L8E9I4_HUMAN
genes like me logo Genes that share paralogs with TTYH2: view

Variants for TTYH2 Gene

Sequence variations from dbSNP and Humsavar for TTYH2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000108139 -- 74,212,251(+) C/G upstream_transcript_variant
rs1000199530 -- 74,258,487(+) G/A intron_variant
rs1000223374 -- 74,228,127(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000235361 -- 74,231,130(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000239427 -- 74,233,734(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TTYH2 Gene

Variant ID Type Subtype PubMed ID
dgv12e196 CNV duplication 17116639
dgv3282n100 CNV gain 25217958
dgv372n27 CNV gain 19166990
dgv5768n54 CNV gain 21841781
dgv587e214 CNV gain 21293372
esv27340 CNV loss 19812545
esv2751770 CNV gain 17911159
esv2761978 CNV gain 21179565
esv33995 CNV loss 17666407
esv3573820 CNV gain 25503493
esv3641230 CNV gain 21293372
esv3641236 CNV loss 21293372
esv3641237 CNV gain 21293372
nsv1138578 CNV deletion 24896259
nsv509673 CNV insertion 20534489
nsv517569 CNV gain+loss 19592680
nsv833538 CNV gain 17160897
nsv833539 CNV loss 17160897

Variation tolerance for TTYH2 Gene

Residual Variation Intolerance Score: 87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.84; 94.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTYH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTYH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTYH2 Gene

Disorders for TTYH2 Gene

Additional Disease Information for TTYH2

No disorders were found for TTYH2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTYH2 Gene

Publications for TTYH2 Gene

  1. TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is up-regulated in colon carcinoma and involved in cell proliferation and cell aggregation. (PMID: 17569141) Toiyama Y … Kusunoki M (World journal of gastroenterology 2007) 3 4 23 56
  2. TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma. (PMID: 11597145) Rae FK … Clements JA (Genomics 2001) 2 3 4 56
  3. The ubiquitin-protein ligase Nedd4-2 differentially interacts with and regulates members of the Tweety family of chloride ion channels. (PMID: 18577513) He Y … Hooper JD (The Journal of biological chemistry 2008) 2 3 56
  4. N-glycosylation analysis of the human Tweety family of putative chloride ion channels supports a penta-spanning membrane arrangement: impact of N-glycosylation on cellular processing of Tweety homologue 2 (TTYH2). (PMID: 18260827) He Y … Hooper JD (The Biochemical journal 2008) 3 23 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for TTYH2 Gene

Sources for TTYH2 Gene