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] See more...

Aliases for TTYH3 Gene

Aliases for TTYH3 Gene

  • Tweety Family Member 3 2 3 5
  • Protein Tweety Homolog 3 3 4
  • HTTY3 3 4
  • Tweety Homolog 3 (Drosophila) 2
  • 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 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 and intracellular calcium activated chloride channel activity. An important paralog of this gene is TTYH2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
GH07J002626 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 814.7 +2.7 2656 16.7 SP1 SREBF1 ZBTB6 FOXA1 LCORL MLX RBPJ USF2 NR2F1 NR2F6 TTYH3 EIF3B CHST12 AMZ1 BRAT1 MRM2 LFNG IQCE SNX8 piR-32287-085
GH07J002606 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 29.5 -23.8 -23786 2.9 NR2F6 ZNF701 RAD21 CTCF ZIC2 CEBPA REST SP1 IRF2 CTBP1 TTYH3 BRAT1 AMZ1 CHST12 IQCE LFNG SNX8 NONHSAG046800.2 lnc-BRAT1-2
GH07J002619 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.6 -9.2 -9224 5.8 GTF3C2 ZBTB40 MLX RBPJ NR2F1 NR2F6 MIXL1 L3MBTL2 RAD21 MNT BRAT1 TTYH3 EIF3B AMZ1 IQCE MRM2 lnc-BRAT1-2 NONHSAG046800.2
GH07J002708 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 13.5 +78.4 78428 2.2 SP1 RBPJ USF2 MYC RELA L3MBTL2 MAX RAD21 CTCF GTF2F1 AMZ1 TTYH3 CARD11 GNA12 LFNG HSALNG0055746 lnc-TTYH3-2
GH07J002756 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +128.6 128624 8.7 SIN3A SP1 CTCF SMARCE1 USF2 NR2F6 ATF1 CREB1 JUND MYC GNA12 BRAT1 AMZ1 IQCE LFNG TTYH3 CHST12 EIF3B SNX8 lnc-AMZ1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTYH3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTYH3 gene promoter:
  • AhR
  • Arnt
  • c-Myc
  • Chx10
  • Elk-1
  • HNF-4alpha1
  • HNF-4alpha2
  • LUN-1
  • Max1
  • Pax-3

Genomic Locations for TTYH3 Gene

Genomic Locations for TTYH3 Gene
chr7:2,631,969-2,664,802
(GRCh38/hg38)
Size:
32,834 bases
Orientation:
Plus strand
chr7:2,671,585-2,704,436
(GRCh37/hg19)
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

  • N-glycosylated.
  • Glycosylation at Asn126, Asn144, and Asn351
  • Ubiquitination at Lys316, Lys340, and Lys508
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TTYH3_HUMAN (1671)

No data available for DME Specific Peptides for TTYH3 Gene

Domains & Families for TTYH3 Gene

Gene Families for TTYH3 Gene

HGNC:
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:
  • Protein tweety homolog 3 (TTYH3_HUMAN)

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 IDA 16219661
GO:0005254 chloride channel activity IMP,IEA 15010458
GO:0072320 volume-sensitive chloride channel activity IBA 21873635
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

CRISPR Products

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

Gene Ontology (GO) - Cellular Components for TTYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034707 chloride channel complex IEA --
GO:0070062 extracellular exosome HDA 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: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) Drugs for TTYH3 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 TTYH3: view

Transcripts for TTYH3 Gene

mRNA/cDNA for TTYH3 Gene

CRISPR Products

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, 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 32
  • 99.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTYH3 33 32
  • 91.57 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ttyh3 17 33 32
  • 88.95 (n)
dog
(Canis familiaris)
Mammalia TTYH3 33 32
  • 88.84 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttyh3 32
  • 88.38 (n)
oppossum
(Monodelphis domestica)
Mammalia TTYH3 33
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTYH3 33
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTYH3 33 32
  • 74.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTYH3 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttyh3 32
  • 70.92 (n)
Str.18570 32
zebrafish
(Danio rerio)
Actinopterygii LOC556314 32
  • 70.64 (n)
ttyh3a 33
  • 69 (a)
OneToMany
ttyh3b 33
  • 64 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7521 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000860 32
  • 48.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta tty 33 32
  • 44.83 (n)
ManyToMany
CG3638 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TTYH3: view image

Paralogs for TTYH3 Gene

Paralogs for TTYH3 Gene

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

  • TTYH3_HUMAN
  • A8MXJ9_HUMAN
  • H7C3T6_HUMAN
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/T 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
dgv11144n54 CNV loss 21841781
dgv11145n54 CNV loss 21841781
dgv401n21 CNV loss 19592680
esv3411613 CNV duplication 20981092
nsv1027694 CNV gain 25217958
nsv1126772 CNV deletion 24896259
nsv1161479 CNV deletion 26073780
nsv464257 CNV loss 19166990
nsv471227 CNV loss 18288195
nsv471238 CNV gain 18288195
nsv5618 CNV insertion 18451855
nsv605863 CNV loss 21841781
nsv605870 CNV loss 21841781
nsv823983 CNV gain 20364138
nsv950793 CNV deletion 24416366

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

SNP Genotyping and Copy Number Assay Products

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 56
  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 56
  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 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 56

Products for TTYH3 Gene

Sources for TTYH3 Gene