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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. 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.

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

Genomics for TTYH3 Gene

Regulatory Elements for TTYH3 Gene

Enhancers for TTYH3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F002626 1.8 FANTOM5 Ensembl ENCODE 64.8 +4.9 4858 21.1 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TTYH3 LFNG AMZ1 CHST12 BRAT1 IQCE SNX8
GH07F002606 1.4 FANTOM5 Ensembl ENCODE 29.5 -23.5 -23470 3.8 CTCF KLF1 ARID4B PLRG1 ZIC2 RAD21 GLIS2 POLR2A SMC3 NR2F6 TTYH3 AMZ1 CHST12 BRAT1 IQCE LFNG SNX8 GC07P002574
GH07F002619 1.6 FANTOM5 Ensembl ENCODE 16.6 -9.2 -9207 5.8 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 GTF3C2 FOS ZNF263 PAF1 TTYH3 AMZ1 IQCE BRAT1 GC07P002574
GH07F002708 1.6 FANTOM5 Ensembl ENCODE 13.5 +78.4 78377 2.9 HDGF PKNOX1 WRNIP1 ZFP64 SIN3A ZNF48 ZNF143 ZNF207 DEK PAF1 AMZ1 TTYH3 CARD11 GNA12 LFNG GC07P002723
GH07F002698 1.4 FANTOM5 Ensembl ENCODE 13.4 +67.3 67251 1.2 TBP PKNOX1 MXI1 TBL1XR1 MAX RELA POLR2A EED ETV6 CREM TTYH3 AMZ1 CARD11 LFNG GC07P002723
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTYH3 on UCSC Golden Path with GeneCards custom track

Promoters for TTYH3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001556907 749 3001 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF48 ZNF121 GLIS2

Genomic Location for TTYH3 Gene

Chromosome:
7
Start:
2,631,951 bp from pter
End:
2,664,802 bp from pter
Size:
32,852 bases
Orientation:
Plus strand

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

No data available for DME Specific Peptides for TTYH3 Gene

Domains & Families for TTYH3 Gene

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

No data available for Gene Families for TTYH3 Gene

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.

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

Animal Model Products

  • Taconic Biosciences Mouse Models for TTYH3

Inhibitory RNA Products

Flow Cytometry 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 IDA 19056867
genes like me logo Genes that share ontologies with TTYH3: view

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 IEA,IDA 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:

Inhibitory RNA Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with TTYH3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 34 35
  • 99.36 (n)
cow
(Bos Taurus)
Mammalia TTYH3 34 35
  • 91.57 (n)
mouse
(Mus musculus)
Mammalia Ttyh3 34 16 35
  • 88.95 (n)
dog
(Canis familiaris)
Mammalia TTYH3 34 35
  • 88.84 (n)
rat
(Rattus norvegicus)
Mammalia Ttyh3 34
  • 88.38 (n)
oppossum
(Monodelphis domestica)
Mammalia TTYH3 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTYH3 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTYH3 34 35
  • 74.19 (n)
lizard
(Anolis carolinensis)
Reptilia TTYH3 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttyh3 34
  • 70.92 (n)
Str.18570 34
zebrafish
(Danio rerio)
Actinopterygii LOC556314 34
  • 70.64 (n)
ttyh3a 35
  • 69 (a)
OneToMany
ttyh3b 35
  • 64 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7521 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000860 34
  • 48.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta tty 34 35
  • 44.83 (n)
CG3638 35
  • 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 Sequence Context AA Info Type
rs10226338 -- 2,642,556(+) aaaaa(A/G)aaaga intron-variant
rs10228022 -- 2,634,224(+) GTCCT(A/G)CCCCT intron-variant
rs10229327 -- 2,644,921(+) CTGTG(A/G)CTGAG intron-variant
rs10233182 -- 2,645,735(+) GATCA(C/G)ACTCC intron-variant
rs10242833 -- 2,642,775(+) TCGTA(A/G)ACTTG 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)

Relevant External Links 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

Relevant External Links for TTYH3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 3 4 64
  2. A novel human Cl(-) channel family related to Drosophila flightless locus. (PMID: 15010458) Suzuki M. … Mizuno A. (J. Biol. Chem. 2004) 3 4 64
  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 Res. 2000) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J. … Elledge S.J. (Nat. Biotechnol. 2013) 3 64

Products for TTYH3 Gene

Sources for TTYH3 Gene

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