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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TTYH3 Gene

protein-coding   GIFtS: 49
GCID: GC07P002638

tweety homolog 3 (Drosophila)

  Search for TTYH3
in our new
 Human Malady Compendium 
Biological research products
for TTYH3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tweety Homolog 3 (Drosophila)1 2
KIAA16911 3
HTTY31
Protein Tweety Homolog 32

External Ids:    HGNC: 222221   Entrez Gene: 807272   Ensembl: ENSG000001362957   OMIM: 6089195   UniProtKB: Q9C0H23   

Export aliases for TTYH3 gene to outside databases

Previous GC identifers: GC07P002413 GC07P002444


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TTYH3:
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)

UniProtKB/Swiss-Prot: TTYH3_HUMAN, Q9C0H2
Function: Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTYH3 gene promoter:
         AhR   Max1   Elk-1   HNF-4alpha2   LUN-1   Arnt   HNF-4alpha1   Pax-3   Chx10   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): TTYH3 promoter sequence
   Search SABiosciences Chromatin IP Primers for TTYH3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTYH3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p22   Ensembl cytogenetic band:  7p22.3   HGNC cytogenetic band: 7p22

TTYH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTYH3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P002638:  view genomic region     (about GC identifiers)

Start:
2,671,585 bp from pter      End:
2,704,436 bp from pter
Size:
32,852 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 2,719,442-2,752,317     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TTYH3_HUMAN, Q9C0H2 (See protein sequence)
Recommended Name: Protein tweety homolog 3  
Size: 523 amino acids; 57545 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
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
Sequence caution: Sequence=BAB21782.2; Type=Erroneous initiation; Sequence=EAL23958.1; Type=Erroneous gene model
prediction;
Secondary accessions: A4D201 B7WP98 Q6L749 Q6ZVG3 Q8TEG6
Alternative splicing: 4 isoforms:  Q9C0H2-1   Q9C0H2-2   Q9C0H2-3   Q9C0H2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTYH3: NX_Q9C0H2

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9C0H2

  • TTYH3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079526.1  
    ENSEMBL proteins: 
     ENSP00000258796   ENSP00000385316   ENSP00000383227   ENSP00000385015   ENSP00000413757  
    Reactome Protein details: Q9C0H2
    Human Recombinant Protein Products: 
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    Uscn Proteins for TTYH3

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA15010458
    GO:0034707chloride channel complex IEA--


    TTYH3 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TTYH3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006990 Tweety

    Graphical View of Domain Structure for InterPro Entry Q9C0H2

    ProtoNet protein and cluster: Q9C0H2

    UniProtKB/Swiss-Prot: TTYH3_HUMAN, Q9C0H2
    Similarity: Belongs to the tweety family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TTYH3_HUMAN, Q9C0H2
    Function: Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction

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    hsa-miR-3130-5p hsa-miR-140-5p hsa-miR-328 hsa-miR-3607-3p hsa-miR-486-3p hsa-miR-301a hsa-miR-218 hsa-miR-133a
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005254chloride channel activity IMP15010458


    TTYH3 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ion channel transport
    Ion channel transport1.00
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for TTYH3
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    TTYH3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TTYH3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for TTYH3 (Q9C0H23 ENSP000002587964) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    NEDD4P469343, ENSP000003455304I2D: score=1 STRING: ENSP00000345530
    MAPK3P273613, ENSP000002630254I2D: score=2 STRING: ENSP00000263025
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006821chloride transport ----


    TTYH3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TTYH3

    1 HMDB Compound for TTYH3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Search CenterWatch for drugs/clinical trials and news about TTYH3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TTYH3 gene: 
    NM_025250.2  

    Unigene Cluster for TTYH3:

    Tweety homolog 3 (Drosophila)
    Hs.440899  [show with all ESTs]
    Unigene Representative Sequence: BC152447
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000258796(uc003smp.3 uc010ksn.3) ENST00000407643 ENST00000400376
    ENST00000403167(uc003smq.3) ENST00000477439 ENST00000498454 ENST00000429448


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    hsa-miR-3130-5p hsa-miR-140-5p hsa-miR-328 hsa-miR-3607-3p hsa-miR-486-3p hsa-miR-301a hsa-miR-218 hsa-miR-133a
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    Additional cDNA sequence: 

    AB051478.2 AB162931.1 AF318350.1 AK074158.1 AK096851.1 AK124608.1 AL833825.1 BC041603.1 
    BC069027.1 BC131824.1 BC152447.1 

    15 DOTS entries:

    DT.92441807  DT.455412  DT.95353193  DT.91670593  DT.95159886  DT.100785358  DT.102836573  DT.100770149 
    DT.92441803  DT.101976407  DT.91647338  DT.95133122  DT.95133178  DT.99968582  DT.91891385 

    24/322 AceView cDNA sequences (see all 322):

    AK096851 AI913605 AA639605 AI434580 BM772887 AI016034 BQ940755 NM_025250 
    CF126772 BQ278163 R31582 BM678809 BM675108 BM740822 BM756011 AW081058 
    BU183311 AB162931 BM713637 BM759597 CA426761 AB051478 BE327788 CK000957 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TTYH3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTAAAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TTYH3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTYH3

    SOURCE GeneReport for Unigene cluster: Hs.440899

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

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TTYH3 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TTYH31 tweety homolog 3 (Drosophila) 74.3(n)
    79.18(a)
      416470  XM_414776.3  XP_414776.3 
    lizard
    (Anolis carolinensis)
    Reptilia TTYH36
    --
    72(a)
    1 ↔ 1
    GL343340.1(275633-299625)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.185702 Transcribed sequence with weak similarity to protein more 80.32(n)    141993040 
    zebrafish
    (Danio rerio)
    Actinopterygii ttyh3b1 tweety homolog 3b (Drosophila) 67.89(n)
    71.29(a)
      798421  NM_001037387.1  NP_001032464.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG36386
    tty6
    tweety
    19(a)
    14(a)
    many ↔ many
    many ↔ many
    X(1109747-1130717)
    X(21199695-21210649)
    worm
    (Caenorhabditis elegans)
    Secernentea ttyh-16
    Protein tweety homolog 1
    16(a)
    1 → many
    X(11368655-11374292)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTYH3 gene
    TTYH12  TTYH22  
    3 SIMAP similar genes for TTYH3 using alignment to 3 protein entries:     TTYH3_HUMAN (see all proteins):
    TTYH2    DKFZp761E0417    TTYH1

    TTYH3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/714 NCBI SNPs in TTYH3 are shown (see all 714    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1148066591,2
    --2669618(+) GTGGGC/TGTCCT 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1855846221,2
    --2669619(+) TGGGCA/GTCCTG 1 -- us2k10--------
    rs1912394141,2
    --2669687(+) GGCCAA/GGTACC 1 -- us2k10--------
    rs2021132341,2
    --2669728(+) GGGGG-/TTTGGG 1 -- us2k10--------
    rs113732311,2
    C,--2669730(+) GGGTTA/-GGGGG 1 -- us2k13Minor allele frequency- -:0.00NA CSA 6
    rs789081911,2
    C,--2669731(+) GGGTTA/GGGGGG 1 -- us2k10--------
    rs1455526591,2
    --2669784(+) GAGAGA/CGGAAC 1 -- us2k10--------
    rs1179240941,2
    --2669812(+) CCCCAC/TCCCAA 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs1807023781,2
    --2669831(+) CTCTTC/TGGCCT 1 -- us2k10--------
    rs1859580861,2
    --2669842(+) TTAGGG/TATGGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TTYH3 (2671585 - 2704436 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for TTYH3
         3 CNVs: 30256 30255 30257

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TTYH3 for disorders           About MalaCards

    TTYH3 for disorders           About GeneDecksing

    OMIM gene information: 608919    OMIM disorders: --


    Export disorders for TTYH3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TTYH3 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with TTYH3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human Cl(-) channel family related to Drosophila flightless locus. (PubMed id 15010458)1, 2 Suzuki M. and Mizuno A. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    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. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (2000)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80727 HGNC: 22222 AceView: TTYH3 Ensembl:ENSG00000136295 euGenes: HUgn80727
    ECgene: TTYH3 H-InvDB: TTYH3

    (According to HUGE)
    About This Section
    HUGE: KIAA1691

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TTYH3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TTYH3 gene:
    Search GeneIP for patents involving TTYH3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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