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    TTYH2 tweety family member 2 [ Homo sapiens (human) ]

    Gene ID: 94015, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TTYH2provided by HGNC
    Official Full Name
    tweety family member 2provided by HGNC
    Primary source
    HGNC:HGNC:13877
    See related
    Ensembl:ENSG00000141540 MIM:608855; AllianceGenome:HGNC:13877
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C17orf29
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 43.8), testis (RPKM 8.8) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTYH2 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74213571..74262020)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75104409..75152817)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72209710..72258159)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72076161-72076662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72076663-72077162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72145665-72146166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72147681-72148235 Neighboring gene NANOG hESC enhancer GRCh37_chr17:72159526-72160027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72176106-72176682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72178385-72178885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72192568-72193068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72193069-72193569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72199053-72199556 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72200565-72201069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72201070-72201573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72220111-72220644 Neighboring gene uncharacterized protein MGC16275 Neighboring gene ribosomal protein L38 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72241021-72241915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72280764-72281359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72285237-72285737 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72292700-72292934 Neighboring gene dynein axonemal intermediate chain 2 Neighboring gene uncharacterized LOC105371891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8928 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72324530-72325444 Neighboring gene Sharpr-MPRA regulatory region 11842 Neighboring gene uncharacterized LOC107985078 Neighboring gene kinesin family member 19

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel proteomic approach for specific identification of tyrosine kinase substrates using [13C]tyrosine. Ibarrola N, et al. J Biol Chem, 2004 Apr 16. PMID 14739304
    2. Upregulated TTYH2 expression is critical for the invasion and migration of U2OS human osteosarcoma cell lines. Moon DK, et al. Biochem Biophys Res Commun, 2019 Aug 20. PMID 31230749
    3. TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is up-regulated in colon carcinoma and involved in cell proliferation and cell aggregation. Toiyama Y, et al. World J Gastroenterol, 2007 May 21. PMID 17569141, Free PMC Article
    4. Surface expression of TTYH2 is attenuated by direct interaction with β-COP. Ryu J, et al. BMB Rep, 2019 Jul. PMID 30670146, Free PMC Article
    5. 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). He Y, et al. Biochem J, 2008 May 15. PMID 18260827

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions.
      Title: Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions.
    2. SARS-CoV-2 exacerbates proinflammatory responses in myeloid cells through C-type lectin receptors and Tweety family member 2.
      Title: SARS-CoV-2 exacerbates proinflammatory responses in myeloid cells through C-type lectin receptors and Tweety family member 2.
    3. TTYH2 may serve as a novel target for the treatment of osteosarcoma.
      Title: Upregulated TTYH2 expression is critical for the invasion and migration of U2OS human osteosarcoma cell lines.
    4. data suggested that beta-COP plays a critical role in the trafficking of the TTYH2 channel to the plasma membrane
      Title: Surface expression of TTYH2 is attenuated by direct interaction with β-COP.
    5. Nedd4-2 differentially interacts with and regulates TTYH1-3
      Title: The ubiquitin-protein ligase Nedd4-2 differentially interacts with and regulates members of the Tweety family of chloride ion channels.
    6. N-glycosylation is not the determining factor for TTYH2 trafficking to the plasma membrane.
      Title: 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).
    7. TTYH2 gene expression is significantly up-regulated in colon cancer. The TTYH2 gene may play an important role in regulating both proliferating and metastatic potentials of colorectal cancer.
      Title: TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is up-regulated in colon carcinoma and involved in cell proliferation and cell aggregation.
    8. expressed most highly in brain and testis and at lower levels in heart, ovary, spleen, and peripheral blood leukocytes. Expression of this gene is upregulated in 13 of 16 (81%) renal cell carcinoma samples examined
      Title: TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4837, MGC126172

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT enables chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables intracellularly calcium-gated chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables volume-sensitive anion channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables volume-sensitive chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-glutamate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein tweety homolog 2
    Names
    hTTY2
    tweety homolog 2
    volume-regulated anion channel subunit TTYH2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330453.2 → NP_001317382.1  protein tweety homolog 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK296511, BC004233, BM548398
      Consensus CDS
      CCDS82195.1
      UniProtKB/TrEMBL
      B2RCL0, B4DKD1
      Related
      ENSP00000433089.1, ENST00000529107.5

    2. NM_032646.6 → NP_116035.5  protein tweety homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_116035.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AF319952, AK058197, AK126955, AL831858, BC004233, BC005168, BF529231
      Consensus CDS
      CCDS32717.1
      UniProtKB/Swiss-Prot
      B3KX97, Q3B7H8, Q3B7R9, Q6AWB4, Q8NBB7, Q96PK1, Q9BSA4
      UniProtKB/TrEMBL
      B2RCL0
      Related
      ENSP00000269346.4, ENST00000269346.9
      Conserved Domains (1) summary
      cd07912
      Location:7 → 422
      Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels

    3. NM_052869.1 → NP_443101.1  protein tweety homolog 2 isoform 2

      See identical proteins and their annotated locations for NP_443101.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (2) contains a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AF319952, AK091085, AK126955, BC004233, BC005168, BX647912
      Consensus CDS
      CCDS45770.1
      UniProtKB/Swiss-Prot
      Q9BSA4
      Related
      ENSP00000394576.2, ENST00000441391.6
      Conserved Domains (1) summary
      cl12141
      Location:1 → 112
      Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      74213571..74262020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75104409..75152817
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSA4.3 GenPept UniProtKB/Swiss-Prot:Q9BSA4

    Gene LinkOut

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