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 oth... See more...

Aliases for TSHZ2 Gene

Aliases for TSHZ2 Gene

  • Teashirt Zinc Finger Homeobox 2 2 3 5
  • Zinc Finger Protein 218 2 3 4
  • Ovarian Cancer-Related Protein 10-2 3 4
  • Teashirt Family Zinc Finger 2 2 3
  • Teashirt Homolog 2 3 4
  • C20orf17 3 4
  • OVC10-2 3 4
  • ZNF218 3 4
  • TSH2 3 4
  • Serologically Defined Colon Cancer Antigen 33 Like 3
  • Chromosome 20 Open Reading Frame 17 2
  • Cell Growth-Inhibiting Protein 7 3
  • ZABC2 3

External Ids for TSHZ2 Gene

Previous HGNC Symbols for TSHZ2 Gene

  • C20orf17
  • ZNF218

Previous GeneCards Identifiers for TSHZ2 Gene

  • GC20P051024
  • GC20P051588
  • GC20P048335

Summaries for TSHZ2 Gene

Entrez Gene Summary for TSHZ2 Gene

  • 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]

GeneCards Summary for TSHZ2 Gene

TSHZ2 (Teashirt Zinc Finger Homeobox 2) is a Protein Coding gene. Diseases associated with TSHZ2 include Autosomal Recessive Alport Syndrome. An important paralog of this gene is TSHZ1.

UniProtKB/Swiss-Prot Summary for TSHZ2 Gene

  • Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).

Additional gene information for TSHZ2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSHZ2 Gene

Genomics for TSHZ2 Gene

GeneHancer (GH) Regulatory Elements for TSHZ2 Gene

Promoters and enhancers for TSHZ2 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
GH20J052971 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 505.2 +3.6 3582 9 EP300 ZSCAN5C ZNF639 ZNF354C ZNF10 ZIC2 ZBTB10 ZNF623 ZBTB26 SAP30 TSHZ2 ZFP64 LINC01524 ENSG00000232294 HSALNG0130913
GH20J053161 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas 11.5 +190.1 190088 1.8 CTCF ZSCAN5C ZNF639 ZNF10 SIX5 ZNF263 AFF1 TRIM28 HES1 MYC TSHZ2 ENSG00000227705 ENSG00000223492 ENSG00000286865
GH20J053141 Enhancer 1.1 UCNEbase Ensembl 11 +169.8 169846 1.7 USF1 REST USF2 TOE1 HINFP NFYB ZNF341 RBM25 RAD51 MAX ENSG00000286865 ENSG00000223492 TSHZ2 ENSG00000227705
GH20J053217 Enhancer 0.8 ENCODE 10.9 +244.9 244938 0.2 ZNF217 CTCF GABPA REST ZBTB25 MYC RAD21 CTBP1 TRIM22 ZEB1 ENSG00000223492 TSHZ2 HE856071 lnc-ZNF217-7
GH20J052409 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 7.4 -561.8 -561782 2.8 EP300 SMC3 GABPA CEBPG PBX2 TAL1 TCF12 RCOR1 ZBTB40 FOXP2 TSHZ2 lnc-ZFP64-1 piR-31937-122 LINC01524
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSHZ2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSHZ2

Top Transcription factor binding sites by QIAGEN in the TSHZ2 gene promoter:
  • aMEF-2
  • CUTL1
  • Evi-1
  • FOXO1
  • FOXO1a
  • IRF-7A
  • Pax-4a
  • POU2F1
  • POU2F1a
  • RP58

Genomic Locations for TSHZ2 Gene

Genomic Locations for TSHZ2 Gene
chr20:52,972,309-53,495,330
(GRCh38/hg38)
Size:
523,022 bases
Orientation:
Plus strand
chr20:51,588,946-52,111,869
(GRCh37/hg19)
Size:
522,924 bases
Orientation:
Plus strand

Genomic View for TSHZ2 Gene

Genes around TSHZ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSHZ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSHZ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSHZ2 Gene

Proteins for TSHZ2 Gene

  • Protein details for TSHZ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRE2-TSH2_HUMAN
    Recommended name:
    Teashirt homolog 2
    Protein Accession:
    Q9NRE2
    Secondary Accessions:
    • B7Z7W1
    • J3KNQ0
    • Q4VXM4
    • Q6N003
    • Q8N260

    Protein attributes for TSHZ2 Gene

    Size:
    1034 amino acids
    Molecular mass:
    115005 Da
    Quaternary structure:
    • Interacts (via homeobox domain) with APBB1 (via PID domain 1).
    SequenceCaution:
    • Sequence=AAF76850.1; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown due translation of a 3'-UTR region.; Evidence={ECO:0000305};

    Alternative splice isoforms for TSHZ2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSHZ2 Gene

Post-translational modifications for TSHZ2 Gene

No data available for DME Specific Peptides for TSHZ2 Gene

Domains & Families for TSHZ2 Gene

Gene Families for TSHZ2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TSHZ2 Gene

Suggested Antigen Peptide Sequences for TSHZ2 Gene

GenScript: Design optimal peptide antigens:
  • TSHZ2 protein (A7E1X4_HUMAN)
  • Teashirt zinc finger homeobox 2 (B1AMR1_HUMAN)
  • Teashirt zinc finger homeobox 2 (B1B033_HUMAN)
  • Zinc finger protein 218 (TSH2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRE2

UniProtKB/Swiss-Prot:

TSH2_HUMAN :
  • Belongs to the teashirt C2H2-type zinc-finger protein family.
Family:
  • Belongs to the teashirt C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with TSHZ2: view

Function for TSHZ2 Gene

Molecular function for TSHZ2 Gene

UniProtKB/Swiss-Prot Function:
Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).

Phenotypes From GWAS Catalog for TSHZ2 Gene

Gene Ontology (GO) - Molecular Function for TSHZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA 21873635
GO:0005515 protein binding IPI 24407287
genes like me logo Genes that share ontologies with TSHZ2: view
genes like me logo Genes that share phenotypes with TSHZ2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSHZ2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TSHZ2 Gene

Localization for TSHZ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSHZ2 Gene

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 TSHZ2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TSHZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with TSHZ2: view

Pathways & Interactions for TSHZ2 Gene

PathCards logo

SuperPathways for TSHZ2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSHZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0010468 regulation of gene expression IEA --
genes like me logo Genes that share ontologies with TSHZ2: view

No data available for Pathways by source and SIGNOR curated interactions for TSHZ2 Gene

Drugs & Compounds for TSHZ2 Gene

No Compound Related Data Available

Transcripts for TSHZ2 Gene

mRNA/cDNA for TSHZ2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSHZ2

Alternative Splicing Database (ASD) splice patterns (SP) for TSHZ2 Gene

No ASD Table

Relevant External Links for TSHZ2 Gene

GeneLoc Exon Structure for
TSHZ2

Expression for TSHZ2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSHZ2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TSHZ2 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x4.1).

Protein differential expression in normal tissues from HIPED for TSHZ2 Gene

This gene is overexpressed in Prostate (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TSHZ2 Gene



Protein tissue co-expression partners for TSHZ2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSHZ2

SOURCE GeneReport for Unigene cluster for TSHZ2 Gene:

Hs.473117

mRNA Expression by UniProt/SwissProt for TSHZ2 Gene:

Q9NRE2-TSH2_HUMAN
Tissue specificity: Expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease.

Evidence on tissue expression from TISSUES for TSHZ2 Gene

  • Stomach(2)
genes like me logo Genes that share expression patterns with TSHZ2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TSHZ2 Gene

Orthologs for TSHZ2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TSHZ2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSHZ2 31 30
  • 99.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TSHZ2 31 30
  • 87.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TSHZ2 31 30
  • 87.06 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSHZ2 31
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tshz2 17 31 30
  • 85.89 (n)
rat
(Rattus norvegicus)
Mammalia Tshz2 30
  • 85.44 (n)
oppossum
(Monodelphis domestica)
Mammalia TSHZ2 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSHZ2 31 30
  • 78.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSHZ2 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tshz2 30
  • 70.03 (n)
zebrafish
(Danio rerio)
Actinopterygii tshz2 30
  • 63.95 (n)
TSHZ2 31
  • 57 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7523 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5824 31
  • 15 (a)
OneToMany
Species where no ortholog for TSHZ2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 TSHZ2 Gene

ENSEMBL:
Gene Tree for TSHZ2 (if available)
TreeFam:
Gene Tree for TSHZ2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSHZ2: view image

Paralogs for TSHZ2 Gene

Paralogs for TSHZ2 Gene

(6) SIMAP similar genes for TSHZ2 Gene using alignment to 3 proteins:

  • TSH2_HUMAN
  • A7E1X4_HUMAN
  • S4R3C8_HUMAN
genes like me logo Genes that share paralogs with TSHZ2: view

Variants for TSHZ2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSHZ2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs202246859 Likely Benign: Anophthalmia - microphthalmia 53,253,705(+) T/G MISSENSE_VARIANT
rs778769992 Likely Benign: Anophthalmia - microphthalmia 53,254,747(+) A/T MISSENSE_VARIANT
rs6097319 - p.Ala681Thr
rs739869 - p.Arg113Ser

Additional dbSNP identifiers (rs#s) for TSHZ2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TSHZ2 Gene

Variant ID Type Subtype PubMed ID
dgv794e199 CNV deletion 23128226
esv1006643 CNV insertion 20482838
esv1298126 CNV insertion 17803354
esv2557335 CNV deletion 19546169
esv2616689 CNV insertion 19546169
esv2656881 CNV deletion 23128226
esv2669822 CNV deletion 23128226
esv2677315 CNV deletion 23128226
esv2722529 CNV deletion 23290073
esv2722530 CNV deletion 23290073
esv2722531 CNV deletion 23290073
esv2722532 CNV deletion 23290073
esv2763235 CNV loss 21179565
esv3305309 CNV mobile element insertion 20981092
esv3324969 CNV insertion 20981092
esv3387293 CNV insertion 20981092
esv3404332 CNV insertion 20981092
esv3412044 CNV duplication 20981092
esv3427831 CNV insertion 20981092
esv3568017 CNV loss 25503493
esv3646107 CNV loss 21293372
esv3646109 CNV loss 21293372
esv3646111 CNV loss 21293372
esv3646113 CNV loss 21293372
nsv1059236 CNV gain 25217958
nsv1063840 CNV loss 25217958
nsv1064159 CNV gain 25217958
nsv1110756 CNV insertion 24896259
nsv1115602 CNV duplication 24896259
nsv1123495 CNV deletion 24896259
nsv1127846 CNV deletion 24896259
nsv1133298 CNV tandem duplication 24896259
nsv1136551 CNV deletion 24896259
nsv1136552 CNV deletion 24896259
nsv1151060 CNV insertion 26484159
nsv1152805 CNV deletion 26484159
nsv459006 CNV loss 19166990
nsv459007 CNV gain 19166990
nsv472345 CNV novel sequence insertion 20440878
nsv474146 CNV novel sequence insertion 20440878
nsv477660 CNV novel sequence insertion 20440878
nsv478704 CNV novel sequence insertion 20440878
nsv519558 CNV loss 19592680
nsv523160 CNV loss 19592680
nsv526701 CNV loss 19592680
nsv586207 CNV loss 21841781
nsv586208 CNV gain 21841781
nsv828743 CNV gain 20364138
nsv834005 CNV gain 17160897
nsv964410 CNV duplication 23825009

Variation tolerance for TSHZ2 Gene

Residual Variation Intolerance Score: 30.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.02; 60.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSHZ2 Gene

Human Gene Mutation Database (HGMD)
TSHZ2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSHZ2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSHZ2 Gene

Disorders for TSHZ2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TSHZ2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal recessive alport syndrome
  • alport syndrome autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search TSHZ2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TSHZ2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TSHZ2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSHZ2 Gene

Publications for TSHZ2 Gene

  1. Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction. (PMID: 19745106) Jenkins D … Woolf AS (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2010) 3 4 41 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. (PMID: 19343227) Kajiwara Y … Buxbaum JD (PloS one 2009) 3 4 54
  5. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PMID: 19862010) Ganesh SK … Lin JP (Nature genetics 2009) 3 41 54

Products for TSHZ2 Gene

Sources for TSHZ2 Gene