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    TSHZ2 teashirt zinc finger homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 128553, updated on 5-May-2024

    Summary

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    Official Symbol
    TSHZ2provided by HGNC
    Official Full Name
    teashirt zinc finger homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:13010
    See related
    Ensembl:ENSG00000182463 MIM:614118; AllianceGenome:HGNC:13010
    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
    TSH2; ZABC2; ZNF218; OVC10-2; C20orf17
    Summary
    This gene is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in gall bladder (RPKM 3.9), ovary (RPKM 3.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (52972358..53495330)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (54743639..55267611)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (51588897..52111869)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372668 Neighboring gene ribosomal protein L36 pseudogene 1 Neighboring gene uncharacterized LOC124904932 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:51664301-51665500 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:51681690-51682889 Neighboring gene NANOG hESC enhancer GRCh37_chr20:51683526-51684027 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:51705255-51705481 Neighboring gene RN7SK pseudogene 184 Neighboring gene MPRA-validated peak4263 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13046 Neighboring gene Sharpr-MPRA regulatory region 1604 Neighboring gene Sharpr-MPRA regulatory region 9561 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:51898656-51899211 Neighboring gene NANOG hESC enhancer GRCh37_chr20:51899474-51900080 Neighboring gene Sharpr-MPRA regulatory region 12391 Neighboring gene uncharacterized LOC105372670 Neighboring gene Sharpr-MPRA regulatory region 11508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13047 Neighboring gene uncharacterized LOC105372669 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:52077141-52077719 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:52077720-52078297 Neighboring gene peptidylprolyl isomerase A pseudogene 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:52089451-52090068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:52120609-52121259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:52126933-52127434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:52127435-52127934 Neighboring gene uncharacterized LOC105372671 Neighboring gene reporter assay-validated silencer 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:52173455-52173955 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:52175886-52176069 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:52189693-52189843 Neighboring gene ZNF217 antisense RNA 1 Neighboring gene zinc finger protein 217

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Overexpression of Teashirt Homolog 2 suppresses cell proliferation and predicts the favorable survival of Lung Adenocarcinoma. Zhao S, et al. Int J Med Sci, 2021. PMID 33850468, Free PMC Article
    2. Down-regulation of the zinc-finger homeobox protein TSHZ2 releases GLI1 from the nuclear repressor complex to restore its transcriptional activity during mammary tumorigenesis. Riku M, et al. Oncotarget, 2016 Feb 2. PMID 26744317, Free PMC Article
    3. TSHZ2 is an EGF-regulated tumor suppressor that binds to the cytokinesis regulator PRC1 and inhibits metastasis. Uribe ML, et al. Sci Signal, 2021 Jun 22. PMID 34158398, Free PMC Article
    4. Rare and frequent promoter methylation, respectively, of TSHZ2 and 3 genes that are both downregulated in expression in breast and prostate cancers. Yamamoto M, et al. PLoS One, 2011 Mar 14. PMID 21423795, Free PMC Article
    5. Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction. Jenkins D, et al. Nephrol Dial Transplant, 2010 Jan. PMID 19745106

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TSHZ2 is an EGF-regulated tumor suppressor that binds to the cytokinesis regulator PRC1 and inhibits metastasis.
      Title: TSHZ2 is an EGF-regulated tumor suppressor that binds to the cytokinesis regulator PRC1 and inhibits metastasis.
    2. Overexpression of Teashirt Homolog 2 suppresses cell proliferation and predicts the favorable survival of Lung Adenocarcinoma.
      Title: Overexpression of Teashirt Homolog 2 suppresses cell proliferation and predicts the favorable survival of Lung Adenocarcinoma.
    3. Down-regulation of TSHZ2 is crucial for mammary tumorigenesis via the activation of GLI1.
      Title: Down-regulation of the zinc-finger homeobox protein TSHZ2 releases GLI1 from the nuclear repressor complex to restore its transcriptional activity during mammary tumorigenesis.
    4. TSHZ3 gene promoter was found to be methylated in all the breast/prostate cancer cell lines and some of the breast cancer clinical specimens while the TSHZ2 gene promoter was unmethylated except for the MDA-MB-231 breast cancer cell line.
      Title: Rare and frequent promoter methylation, respectively, of TSHZ2 and 3 genes that are both downregulated in expression in breast and prostate cancers.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Mutations in TSHZ2 and TSHZ3 are not a major cause of pelvi-ureteric junction obstruction, at least in Albanian and Macedonian populations.
      Title: Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    EBI GWAS Catalog

    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

    • FLJ33887, DKFZp686K2480

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    teashirt homolog 2
    Names
    cell growth-inhibiting protein 7
    ovarian cancer-related protein 10-2
    serologically defined colon cancer antigen 33 like
    teashirt family zinc finger 2
    zinc finger protein 218

    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.

    Genomic

    1. NG_053184.1 RefSeqGene

      Range
      5050..528022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193421.2 → NP_001180350.1  teashirt homolog 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK302570, AL354993, AL391097, BQ574274, BX276189
      Consensus CDS
      CCDS54474.1
      UniProtKB/Swiss-Prot
      Q9NRE2
      Related
      ENSP00000475114.1, ENST00000603338.2
      Conserved Domains (2) summary
      cd00086
      Location:839 → 907
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      sd00020
      Location:214 → 236
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_173485.6 → NP_775756.3  teashirt homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_775756.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL121902, AL354993, BQ574274, BX276189, BX640770
      Consensus CDS
      CCDS33490.1
      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2
      Related
      ENSP00000360552.3, ENST00000371497.10
      Conserved Domains (2) summary
      cd00086
      Location:842 → 910
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      sd00020
      Location:217 → 239
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      52972358..53495330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439875.1 → XP_047295831.1  teashirt homolog 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

    2. XM_047439874.1 → XP_047295830.1  teashirt homolog 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

    3. XM_047439873.1 → XP_047295829.1  teashirt homolog 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

    4. XM_047439876.1 → XP_047295832.1  teashirt homolog 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

    5. XM_047439877.1 → XP_047295833.1  teashirt homolog 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

    6. XM_017027641.2 → XP_016883130.1  teashirt homolog 2 isoform X2

    7. XM_047439878.1 → XP_047295834.1  teashirt homolog 2 isoform X2

    8. XM_047439879.1 → XP_047295835.1  teashirt homolog 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      54743639..55267611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322946.1 → XP_054178921.1  teashirt homolog 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

    2. XM_054322945.1 → XP_054178920.1  teashirt homolog 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

    3. XM_054322944.1 → XP_054178919.1  teashirt homolog 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

    4. XM_054322947.1 → XP_054178922.1  teashirt homolog 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

    5. XM_054322948.1 → XP_054178923.1  teashirt homolog 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

    6. XM_054322949.1 → XP_054178924.1  teashirt homolog 2 isoform X2

    7. XM_054322950.1 → XP_054178925.1  teashirt homolog 2 isoform X2

    8. XM_054322951.1 → XP_054178926.1  teashirt homolog 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRE2.3 GenPept UniProtKB/Swiss-Prot:Q9NRE2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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