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Aliases for TTYH2 Gene

Aliases for TTYH2 Gene

  • Tweety Family Member 2 2 3 5
  • C17orf29 3 4
  • HTTY2 3 4
  • Tweety (Drosophila) Homolog 2 2
  • Tweety Homolog 2 (Drosophila) 2
  • Protein Tweety Homolog 2 3
  • 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. Diseases associated with TTYH2 include Renal Cell Carcinoma. 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. GO annotations related to this gene include chloride channel activity. An important paralog of this gene is TTYH3.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for TTYH2 Gene

Genomics for TTYH2 Gene

Regulatory Elements for TTYH2 Gene

Enhancers for TTYH2 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
GH17H074281 1.7 FANTOM5 Ensembl ENCODE 24.3 +69.3 69291 1 HDGF ATF1 TCF12 ZNF766 GLIS2 GATA2 ELK1 FOS ATF7 RUNX3 CD300E TTYH2 NAT9 ARMC7 NUP85 NT5C DNAI2 CD300C CD300LB TMEM104
GH17H074239 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.7 +27.1 27126 3 PKNOX1 ZSCAN4 BHLHE40 CEBPB MAX CEBPG PRDM10 PRDM4 MYC CD300E DNAI2 TTYH2 CD300C CD300LB MGC16275 RPL38 CD300LF CD300A CD300LD
GH17H074295 1.5 FANTOM5 Ensembl ENCODE 17 +82.9 82876 1 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ZNF143 ATF7 NCOA1 TTYH2 DNAI2 HID1-AS1 NAT9 MGC16275 RPL38 GGA3 RAB37 ENSG00000266106
GH17H074234 1.1 Ensembl ENCODE dbSUPER 18.8 +21.9 21864 2 HDAC1 ZNF687 ZMYM3 ZEB2 EBF1 MTA3 IKZF1 SCRT2 CUX1 ZBTB20 TTYH2 DNAI2 MGC16275 RPL38 CD300A CD300E ENSG00000264272
GH17H074273 1.2 Ensembl ENCODE dbSUPER 16.7 +61.0 61045 1 ZNF687 RFX1 NR2F1 BHLHE40 MAX USF2 EBF1 ZNF592 IKZF1 FOXJ2 TTYH2 MGC16275 DNAI2 GGA3 ENSG00000266106
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTYH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TTYH2 Gene

Chromosome:
17
Start:
74,213,514 bp from pter
End:
74,262,020 bp from pter
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 posLast=3131 and posLast=283283
  • 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

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

Protein Domains for TTYH2 Gene

InterPro:
ProtoNet:

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:0005254 chloride channel activity IEA --
GO:0005515 protein binding IPI 18577513
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

miRNA for TTYH2 Gene

miRTarBase miRNAs that target TTYH2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TTYH2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 5

Gene Ontology (GO) - Cellular Components for TTYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride 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) Additional Compounds for TTYH2 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 TTYH2: view

Transcripts for TTYH2 Gene

Unigene Clusters for TTYH2 Gene

Tweety homolog 2 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TTYH2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, and MOPED for TTYH2 Gene



Protein tissue co-expression partners 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

Primer Products

No data available for 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 34
  • 96.94 (n)
dog
(Canis familiaris)
Mammalia TTYH2 33 34
  • 86.85 (n)
cow
(Bos Taurus)
Mammalia TTYH2 33 34
  • 85.8 (n)
mouse
(Mus musculus)
Mammalia Ttyh2 33 16 34
  • 84.4 (n)
rat
(Rattus norvegicus)
Mammalia Ttyh2 33
  • 84.02 (n)
oppossum
(Monodelphis domestica)
Mammalia TTYH2 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTYH2 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTYH2 33 34
  • 75.04 (n)
lizard
(Anolis carolinensis)
Reptilia TTYH2 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttyh2 33
  • 68.66 (n)
MGC76161 33
African clawed frog
(Xenopus laevis)
Amphibia ttyh2-prov 33
zebrafish
(Danio rerio)
Actinopterygii ttyh2l 33 34
  • 66.29 (n)
ttyh2 34
  • 66 (a)
OneToMany
wufi03f07 33
fruit fly
(Drosophila melanogaster)
Insecta bbx 35
  • 28 (a)
tty 35 34
  • 28 (a)
CG3638 34
  • 16 (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)

Paralogs for TTYH2 Gene

Paralogs for TTYH2 Gene

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

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 Sequence Context AA Info Type
rs1000108139 -- 74,212,251(+) GGCCC(C/G)GAGGC intron-variant, upstream-variant-2KB
rs1000199530 -- 74,258,487(+) GTCTT(A/G)AACTC intron-variant
rs1000223374 -- 74,228,127(+) TACAG(A/G)CATGC intron-variant
rs1000235361 -- 74,231,130(+) GCTGG(A/C)CCCCC intron-variant
rs1000239427 -- 74,233,734(+) GGGGC(A/G)GTGGT 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)

Relevant External Links for TTYH2 Gene

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

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

Disorders for TTYH2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TTYH2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
- elite association - COSMIC cancer census association via MalaCards
Search TTYH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TTYH2

Genetic Association Database (GAD)
TTYH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTYH2
genes like me logo Genes that share disorders with TTYH2: view

No data available for 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 22 60
  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 60
  3. 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 22 60
  4. 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 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for TTYH2 Gene

Sources for TTYH2 Gene

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