Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TTYH3 Gene

Aliases for TTYH3 Gene

  • Tweety Family Member 3 2 3 5
  • HTTY3 3 4
  • Tweety Homolog 3 (Drosophila) 2
  • Protein Tweety Homolog 3 3
  • Tweety Homolog 3 3
  • KIAA1691 4

External Ids for TTYH3 Gene

Previous GeneCards Identifiers for TTYH3 Gene

  • GC07P002413
  • GC07P002444

Summaries for TTYH3 Gene

Entrez Gene Summary for TTYH3 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for TTYH3 Gene

TTYH3 (Tweety Family Member 3) is a Protein Coding gene. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include chloride channel activity and intracellular calcium activated chloride channel activity. An important paralog of this gene is TTYH2.

UniProtKB/Swiss-Prot for TTYH3 Gene

  • Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction.

Additional gene information for TTYH3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTYH3 Gene

Genomics for TTYH3 Gene

GeneHancer (GH) Regulatory Elements for TTYH3 Gene

Promoters and enhancers for TTYH3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I002626 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 614.8 +2.7 2674 16.7 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 TTYH3 LFNG AMZ1 CHST12 BRAT1 EIF3B IQCE SNX8
GH07I002606 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 29.5 -23.4 -23398 3.6 CTCF ARID4B REST PLRG1 ZIC2 RAD21 NR2F2 CTBP1 ZNF701 CEBPA TTYH3 BRAT1 AMZ1 CHST12 IQCE LFNG SNX8 GC07P002574
GH07I002619 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.7 -9.2 -9206 5.8 ARNT MLX ARID4B DMAP1 ZNF48 SLC30A9 GTF3C2 FOS ATF7 ZNF263 TTYH3 AMZ1 IQCE BRAT1 GC07P002574
GH07I002756 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 +128.6 128642 8.7 HDGF PKNOX1 SMAD1 FOXA2 ARNT ZFP64 NEUROD1 SIN3A ZNF2 IRF4 GNA12 BRAT1 CHST12 EIF3B AMZ1 LFNG TTYH3 SNX8 GC07M002729 PIR32151
GH07I002708 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.5 +78.2 78230 2.7 HDGF PKNOX1 ZFP64 ZNF48 ARID2 ZNF207 ZNF143 ATF7 RUNX3 DEK AMZ1 TTYH3 CARD11 GNA12 LFNG GC07P002723
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTYH3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTYH3 gene promoter:

Genomic Locations for TTYH3 Gene

Genomic Locations for TTYH3 Gene
chr7:2,631,951-2,664,802
(GRCh38/hg38)
Size:
32,852 bases
Orientation:
Plus strand
chr7:2,671,585-2,704,436
(GRCh37/hg19)

Genomic View for TTYH3 Gene

Genes around TTYH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTYH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTYH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTYH3 Gene

Proteins for TTYH3 Gene

  • Protein details for TTYH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0H2-TTYH3_HUMAN
    Recommended name:
    Protein tweety homolog 3
    Protein Accession:
    Q9C0H2
    Secondary Accessions:
    • A4D201
    • B7WP98
    • Q6L749
    • Q6ZVG3
    • Q8TEG6

    Protein attributes for TTYH3 Gene

    Size:
    523 amino acids
    Molecular mass:
    57545 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The current is completely inhibited by the addition of an anion permeability inhibitor. Addition of a Ca(2+) ionophore induces an outward-rectified current in mock-transfected cells, but it introduced an overt linear current in TTYH3-transfected cells.
    SequenceCaution:
    • Sequence=BAB21782.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAL23958.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TTYH3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTYH3 Gene

Post-translational modifications for TTYH3 Gene

  • N-glycosylated.
  • Ubiquitination at posLast=316316, isoforms=2, 3, 4340, and posLast=517517
  • Glycosylation at posLast=126126, isoforms=2, 4144, and isoforms=2, 3, 4351

No data available for DME Specific Peptides for TTYH3 Gene

Domains & Families for TTYH3 Gene

Gene Families for TTYH3 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TTYH3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TTYH3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C0H2

UniProtKB/Swiss-Prot:

TTYH3_HUMAN :
  • Belongs to the tweety family.
Family:
  • Belongs to the tweety family.
genes like me logo Genes that share domains with TTYH3: view

Function for TTYH3 Gene

Molecular function for TTYH3 Gene

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

Phenotypes From GWAS Catalog for TTYH3 Gene

Gene Ontology (GO) - Molecular Function for TTYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005229 intracellular calcium activated chloride channel activity TAS --
GO:0005254 chloride channel activity IEA,IMP 15010458
genes like me logo Genes that share ontologies with TTYH3: view
genes like me logo Genes that share phenotypes with TTYH3: view

miRNA for TTYH3 Gene

miRTarBase miRNAs that target TTYH3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTYH3 Gene

Localization for TTYH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTYH3 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 TTYH3 gene
Compartment Confidence
plasma membrane 5
extracellular 5

Gene Ontology (GO) - Cellular Components for TTYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034707 chloride channel complex IEA --
GO:0070062 extracellular exosome HDA,IDA 19056867
genes like me logo Genes that share ontologies with TTYH3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TTYH3 Gene

Pathways & Interactions for TTYH3 Gene

genes like me logo Genes that share pathways with TTYH3: view

Pathways by source for TTYH3 Gene

Gene Ontology (GO) - Biological Process for TTYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IDA,IEA 16219661
GO:0034220 ion transmembrane transport TAS --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with TTYH3: view

No data available for SIGNOR curated interactions for TTYH3 Gene

Drugs & Compounds for TTYH3 Gene

(1) Additional Compounds for TTYH3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with TTYH3: view

Transcripts for TTYH3 Gene

Unigene Clusters for TTYH3 Gene

Tweety homolog 3 (Drosophila):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTYH3 Gene

No ASD Table

Relevant External Links for TTYH3 Gene

GeneLoc Exon Structure for
TTYH3
ECgene alternative splicing isoforms for
TTYH3

Expression for TTYH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTYH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TTYH3 Gene

This gene is overexpressed in Amniocyte (18.3), Peripheral blood mononuclear cells (12.7), Adrenal (10.9), Urine (10.0), and Bone (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TTYH3 Gene



NURSA nuclear receptor signaling pathways regulating expression of TTYH3 Gene:

TTYH3

SOURCE GeneReport for Unigene cluster for TTYH3 Gene:

Hs.440899

mRNA Expression by UniProt/SwissProt for TTYH3 Gene:

Q9C0H2-TTYH3_HUMAN
Tissue specificity: Expressed in excitable tissues. Expressed in the brain, heart, skeletal muscle, colon, spleen, kidney and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for TTYH3 Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Spleen(4.2)
  • Skin(2.8)
genes like me logo Genes that share expression patterns with TTYH3: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTYH3 Gene

Orthologs for TTYH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTYH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTYH3 33 34
  • 99.36 (n)
cow
(Bos Taurus)
Mammalia TTYH3 33 34
  • 91.57 (n)
mouse
(Mus musculus)
Mammalia Ttyh3 33 16 34
  • 88.95 (n)
dog
(Canis familiaris)
Mammalia TTYH3 33 34
  • 88.84 (n)
rat
(Rattus norvegicus)
Mammalia Ttyh3 33
  • 88.38 (n)
oppossum
(Monodelphis domestica)
Mammalia TTYH3 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTYH3 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTYH3 33 34
  • 74.19 (n)
lizard
(Anolis carolinensis)
Reptilia TTYH3 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttyh3 33
  • 70.92 (n)
Str.18570 33
zebrafish
(Danio rerio)
Actinopterygii LOC556314 33
  • 70.64 (n)
ttyh3a 34
  • 69 (a)
OneToMany
ttyh3b 34
  • 64 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7521 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000860 33
  • 48.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta tty 33 34
  • 44.83 (n)
CG3638 34
  • 17 (a)
ManyToMany
Species where no ortholog for TTYH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 TTYH3 Gene

ENSEMBL:
Gene Tree for TTYH3 (if available)
TreeFam:
Gene Tree for TTYH3 (if available)

Paralogs for TTYH3 Gene

Paralogs for TTYH3 Gene

(3) SIMAP similar genes for TTYH3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TTYH3: view

Variants for TTYH3 Gene

Sequence variations from dbSNP and Humsavar for TTYH3 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000023069 -- 2,642,473(+) T/C intron_variant
rs1000028901 -- 2,652,515(+) G/C intron_variant
rs1000038773 -- 2,652,627(+) C/T intron_variant
rs1000039795 -- 2,638,949(+) G/A intron_variant
rs1000134261 -- 2,639,205(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TTYH3 Gene

Variant ID Type Subtype PubMed ID
nsv950793 CNV deletion 24416366
nsv823983 CNV gain 20364138
nsv605870 CNV loss 21841781
nsv605863 CNV loss 21841781
nsv5618 CNV insertion 18451855
nsv471238 CNV gain 18288195
nsv471227 CNV loss 18288195
nsv464257 CNV loss 19166990
nsv1161479 CNV deletion 26073780
nsv1126772 CNV deletion 24896259
nsv1027694 CNV gain 25217958
esv3411613 CNV duplication 20981092
dgv401n21 CNV loss 19592680
dgv11145n54 CNV loss 21841781
dgv11144n54 CNV loss 21841781

Variation tolerance for TTYH3 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTYH3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTYH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTYH3 Gene

Disorders for TTYH3 Gene

Additional Disease Information for TTYH3

No disorders were found for TTYH3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTYH3 Gene

Publications for TTYH3 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. A novel human Cl(-) channel family related to Drosophila flightless locus. (PMID: 15010458) Suzuki M … Mizuno A (The Journal of biological chemistry 2004) 3 4 58
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58

Products for TTYH3 Gene

Sources for TTYH3 Gene

Content
Loading form....