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Aliases for TSHZ1 Gene

Aliases for TSHZ1 Gene

  • Teashirt Zinc Finger Homeobox 1 2 3 5
  • Serologically Defined Colon Cancer Antigen 33 2 3 4
  • Antigen NY-CO-33 3 4
  • SDCCAG33 3 4
  • TSH1 3 4
  • Teashirt Family Zinc Finger 1 2
  • Teashirt Zinc Finger 1 2
  • Teashirt Homolog 1 3
  • NY-CO-33 3
  • CAA 3

External Ids for TSHZ1 Gene

Previous HGNC Symbols for TSHZ1 Gene

  • SDCCAG33

Previous GeneCards Identifiers for TSHZ1 Gene

  • GC18P071051
  • GC18P072922
  • GC18P069607

Summaries for TSHZ1 Gene

Entrez Gene Summary for TSHZ1 Gene

  • This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]

GeneCards Summary for TSHZ1 Gene

TSHZ1 (Teashirt Zinc Finger Homeobox 1) is a Protein Coding gene. Diseases associated with TSHZ1 include Aural Atresia, Congenital and External Auditory Canal Aplasia/Hypoplasia. An important paralog of this gene is TSHZ3.

UniProtKB/Swiss-Prot for TSHZ1 Gene

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

Additional gene information for TSHZ1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSHZ1 Gene

Genomics for TSHZ1 Gene

GeneHancer (GH) Regulatory Elements for TSHZ1 Gene

Promoters and enhancers for TSHZ1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I075199 Promoter/Enhancer 3.1 UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556 +0.1 103 22.3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 IRF4 YY1 ZNF207 ZADH2 TSHZ1 ZNF407 GC18P075214 PIR49314
GH18I075245 Enhancer 1.1 Ensembl ENCODE dbSUPER 12 +37.7 37704 6 ZSCAN18 IRF2 ZSCAN4 YY1 ZNF335 ZFHX2 GLIS2 ZBTB48 POLR2A RUNX3 ZNF407 TSHZ1 ZADH2 GC18M075233 ENSG00000276993
GH18I075267 Enhancer 1 UCNEbase Ensembl 12 +57.4 57394 1.1 MEIS2 PKNOX1 JUN MAFG ZNF316 MAFF POLR2A EMSY MAFK SPI1 TSHZ1 ZADH2 GC18M075233 ENSG00000276993
GH18I074563 Enhancer 0.5 ENCODE 11.5 -645.9 -645934 2.7 ZNF585B CEBPA HNF4G HNF4A ZBTB7B TSHZ1 ENSG00000264340 ZNF407 CNDP1
GH18I075276 Enhancer 0.5 Ensembl ENCODE 11.4 +66.6 66580 2.1 ZNF266 ZNF407 TSHZ1 ZADH2 CNDP2 GC18M075233 ENSG00000276993
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TSHZ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSHZ1 gene promoter:

Genomic Locations for TSHZ1 Gene

Genomic Locations for TSHZ1 Gene
79,196 bases
Plus strand

Genomic View for TSHZ1 Gene

Genes around TSHZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSHZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSHZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSHZ1 Gene

Proteins for TSHZ1 Gene

  • Protein details for TSHZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Teashirt homolog 1
    Protein Accession:
    Secondary Accessions:
    • O60534
    • Q4LE29
    • Q53EU4

    Protein attributes for TSHZ1 Gene

    1077 amino acids
    Molecular mass:
    117916 Da
    Quaternary structure:
    • Interacts (via homeobox domain) with APBB1 (via PID domain 1).
    • Sequence=AAC18047.1; Type=Frameshift; Positions=304, 1048; Evidence={ECO:0000305}; Sequence=BAE06124.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TSHZ1 Gene


neXtProt entry for TSHZ1 Gene

Post-translational modifications for TSHZ1 Gene

No Post-translational modifications

Other Protein References for TSHZ1 Gene

No data available for DME Specific Peptides for TSHZ1 Gene

Domains & Families for TSHZ1 Gene

Gene Families for TSHZ1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TSHZ1 Gene

Suggested Antigen Peptide Sequences for TSHZ1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the teashirt C2H2-type zinc-finger protein family.
  • Belongs to the teashirt C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with TSHZ1: view

Function for TSHZ1 Gene

Molecular function for TSHZ1 Gene

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

Phenotypes From GWAS Catalog for TSHZ1 Gene

Gene Ontology (GO) - Molecular Function for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TSHZ1: view
genes like me logo Genes that share phenotypes with TSHZ1: view

Human Phenotype Ontology for TSHZ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TSHZ1 Gene

MGI Knock Outs for TSHZ1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TSHZ1 Gene

Localization for TSHZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSHZ1 Gene

Subcellular locations from

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 TSHZ1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with TSHZ1: view

Pathways & Interactions for TSHZ1 Gene

SuperPathways for TSHZ1 Gene

No Data Available

Interacting Proteins for TSHZ1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
Selected Interacting proteins: Q6ZSZ6-TSH1_HUMAN ENSP00000323584 for TSHZ1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0007275 multicellular organism development IBA --
genes like me logo Genes that share ontologies with TSHZ1: view

No data available for Pathways by source and SIGNOR curated interactions for TSHZ1 Gene

Drugs & Compounds for TSHZ1 Gene

No Compound Related Data Available

Transcripts for TSHZ1 Gene

Unigene Clusters for TSHZ1 Gene

Teashirt zinc finger homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSHZ1 Gene

No ASD Table

Relevant External Links for TSHZ1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TSHZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSHZ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TSHZ1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TSHZ1 Gene

Protein tissue co-expression partners for TSHZ1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TSHZ1 Gene:


SOURCE GeneReport for Unigene cluster for TSHZ1 Gene:


mRNA Expression by UniProt/SwissProt for TSHZ1 Gene:

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

Evidence on tissue expression from TISSUES for TSHZ1 Gene

  • Nervous system(4.6)
  • Kidney(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSHZ1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • skeleton
Head and neck:
  • brain
  • ear
  • head
  • inner ear
  • middle ear
  • olfactory bulb
  • outer ear
  • skull
genes like me logo Genes that share expression patterns with TSHZ1: view

Primer Products

No data available for mRNA differential expression in normal tissues for TSHZ1 Gene

Orthologs for TSHZ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TSHZ1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TSHZ1 33 34
  • 99.26 (n)
(Canis familiaris)
Mammalia TSHZ1 33 34
  • 85.96 (n)
(Mus musculus)
Mammalia Tshz1 33 16 34
  • 85.77 (n)
(Rattus norvegicus)
Mammalia Tshz1 33
  • 85.4 (n)
(Bos Taurus)
Mammalia TSHZ1 33 34
  • 84.82 (n)
(Monodelphis domestica)
Mammalia TSHZ1 34
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia TSHZ1 34
  • 76 (a)
(Gallus gallus)
Aves TSHZ1 33 34
  • 77.99 (n)
(Anolis carolinensis)
Reptilia TSHZ1 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730769 33
  • 72.1 (n)
Str.14430 33
(Danio rerio)
Actinopterygii tshz1 33 34
  • 67.35 (n)
sdccag33 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5824 34
  • 12 (a)
Species where no ortholog for TSHZ1 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 TSHZ1 Gene

Gene Tree for TSHZ1 (if available)
Gene Tree for TSHZ1 (if available)

Paralogs for TSHZ1 Gene

Paralogs for TSHZ1 Gene

(2) SIMAP similar genes for TSHZ1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TSHZ1: view

Variants for TSHZ1 Gene

Sequence variations from dbSNP and Humsavar for TSHZ1 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1048510806 uncertain-significance, Aural atresia, congenital 75,211,222(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs111329836 likely-benign, Aural atresia, congenital 75,286,946(+) G/A/T coding_sequence_variant, synonymous_variant
rs111787453 likely-benign, Aural atresia, congenital 75,287,449(+) C/G/T coding_sequence_variant, missense_variant
rs112669427 likely-benign, Aural atresia, congenital, not provided 75,285,910(+) C/T coding_sequence_variant, missense_variant
rs113033195 likely-benign, Aural atresia, congenital 75,287,608(+) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TSHZ1 Gene

Variant ID Type Subtype PubMed ID
nsv833695 CNV gain 17160897
nsv577657 CNV loss 21841781
nsv458299 CNV loss 19166990
nsv132104 CNV deletion 16902084
nsv132006 CNV deletion 16902084
nsv1143883 CNV deletion 24896259
nsv1121956 CNV deletion 24896259
nsv1071863 CNV deletion 25765185
esv3643133 CNV loss 21293372

Variation tolerance for TSHZ1 Gene

Residual Variation Intolerance Score: 4.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.89; 87.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSHZ1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSHZ1 Gene

Disorders for TSHZ1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TSHZ1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aural atresia, congenital
  • caa
external auditory canal aplasia/hypoplasia
  • external auditory canal stenosis/atresia
  • spinal arachnoiditis
- elite association - COSMIC cancer census association via MalaCards
Search TSHZ1 in MalaCards View complete list of genes associated with diseases


  • Aural atresia, congenital (CAA) [MIM:607842]: A rare anomaly of the ear that involves some degree of failure of the development of the external auditory canal. The malformation can also involve the tympanic membrane, ossicles and middle ear space. The inner ear development is most often normal. Different CAA forms are known. CAA type I is characterized by bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity. {ECO:0000269 PubMed:22152683}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TSHZ1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TSHZ1: view

No data available for Genatlas for TSHZ1 Gene

Publications for TSHZ1 Gene

  1. Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. (PMID: 22152683) Feenstra I … Cremers CW (American journal of human genetics 2011) 3 4 58
  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 44 58
  3. FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. (PMID: 19343227) Kajiwara Y … Buxbaum JD (PloS one 2009) 3 4 58
  4. Tshz1 is required for axial skeleton, soft palate and middle ear development in mice. (PMID: 17586487) Coré N … Fasano L (Developmental biology 2007) 2 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for TSHZ1 Gene

Sources for TSHZ1 Gene

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