TSHZ3 Gene - Teashirt Zinc Finger Homeobox 3

Protein Coding (Updated: Nov 9, 2022)
This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a ge... See more...

Aliases for TSHZ3 Gene

Aliases for TSHZ3 Gene

  • GeneCards Symbol: TSHZ3 2
  • Teashirt Zinc Finger Homeobox 3 2 3 5
  • TSH3 2 3 4 5
  • Zinc Finger Protein 537 2 3 4
  • KIAA1474 2 4 5
  • ZNF537 3 4 5
  • Teashirt Family Zinc Finger 3 2 3
  • Teashirt Homolog 3 3 4
  • Teashirt 3 2

External Ids for TSHZ3 Gene

Previous HGNC Symbols for TSHZ3 Gene

  • ZNF537

Previous GeneCards Identifiers for TSHZ3 Gene

  • GC19M036458
  • GC19M031765
  • GC19M028269
  • GC19M031274
  • GC19M031150
  • GC19M031326
  • GC19M031855
  • GC19M032784
  • GC19M033817
  • GC19M067706

Summaries for TSHZ3 Gene

Entrez Gene Summary for TSHZ3 Gene

  • This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]

GeneCards Summary for TSHZ3 Gene

TSHZ3 (Teashirt Zinc Finger Homeobox 3) is a Protein Coding gene. Diseases associated with TSHZ3 include Hydronephrosis and Prune Belly Syndrome. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is TSHZ1.

UniProtKB/Swiss-Prot Summary for TSHZ3 Gene

Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity). ( TSH3_HUMAN,Q63HK5 )

Gene Wiki entry for TSHZ3 Gene

Additional gene information for TSHZ3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB Summary , Rfam classification and piRNA Summary for TSHZ3 Gene

Genomics for TSHZ3 Gene

Subsections:

  1. Promoters/Enhancers
  2. Location

GeneHancer (GH) Regulatory Elements (see citations)

Download GeneHancer 2017 data
Promoters and enhancers for TSHZ3 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
GH19J031347 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 256.20 452.02 +0.6 0 5.7 ATF2 KLF17 ZNF600 ZIC2 HIC1 ZBTB10 REST NFIC ZNF341 ZNF223 TSHZ3 lnc-ANKRD27-10 ZNF507 TSHZ3-AS1
GH19J031377 Enhancer 0.9 Ensembl ENCODE 12.10 10.33 -27.4 2 2.2 JUND ZNF184 ZNF600 MBD2 FEZF1 ZNF843 TCF7L2 PRDM6 ZNF24 ZNF189 TSHZ3 ENSG00000278875 HSALNG0125321-001 LOC124904794 TSHZ3-AS1 ZNF507
GH19J031392 Enhancer 0.7 Ensembl 10.70 7.45 -42.0 4 0.2 ATF3 CEBPG YY1 CEBPB ZNF610 FEZF1 ZNF513 RXRA KLF16 IRF9 HSALNG0125321-002 TSHZ3 ENSG00000267636 TSHZ3-AS1 ZNF507
GH19J030389 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.80 6.36 +959.1 62 3.6 ZNF580 KLF17 ZNF600 ZIC2 HIC1 ZSCAN16 ZNF341 KLF7 ZNF610 ZNF146 POP4 TSHZ3 HSALNG0125272 piR-42491-118 ZNF536
GH19J031329 Enhancer 1 ENCODE dbSUPER 5.90 6.07 +18.1 2 5.5 ZNF580 ATF2 KLF17 ZNF184 ZNF600 ZIC2 ZNF654 ZNF341 ZNF639 ZNF223 TSHZ3 lnc-ANKRD27-9 TSHZ3-AS1 lnc-ANKRD27-10

GeneHancers around TSHZ3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSHZ3

Top Transcription factor binding sites by QIAGEN in the TSHZ3 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for TSHZ3 Gene

Latest Assembly
chr19:31,149,876-31,350,877
(GRCh38/hg38)
Size:
201,002 bases
Orientation:
Minus strand

Previous Assembly
chr19:31,640,782-31,840,342
(GRCh37/hg19 by Entrez Gene)
Size:
199,561 bases
Orientation:
Minus strand

chr19:31,765,851-31,840,453
(GRCh37/hg19 by Ensembl)
Size:
74,603 bases
Orientation:
Minus strand

Genomic View for TSHZ3 Gene

Genes around TSHZ3 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19) IMPROVED

Cytogenetic band:
TSHZ3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSHZ3 Gene
Genomic Neighborhood
•
Exon Structure
•
Gene Densities
IMPROVED

RefSeq DNA sequence for TSHZ3 Gene

Proteins for TSHZ3 Gene

Subsections:

  1. 3D Structures
  2. Protein References
  3. Post-Translational Modifications

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for TSHZ3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q63HK5-TSH3_HUMAN
    Recommended name:
    Teashirt homolog 3
    Protein Accession:
    Q63HK5
    Secondary Accessions:
    • A1L0U7
    • Q9H0G6
    • Q9P254

    Protein attributes for TSHZ3 Gene

    Size:
    1081 amino acids
    Molecular mass:
    118566 Da
    Quaternary structure:

    • Interacts (via homeobox domain) with APBB1 (via PID domain 1).
      Interacts (via N-terminus) with HDAC1 and HDAC2; the interaction is direct.
      Found in a trimeric complex with APBB1 and HDAC1; the interaction between HDAC1 and APBB1 is mediated by TSHZ3.
    Sequence caution:

    • The sequence AAI27096.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus. {ECO:0000305}
    • The sequence AAI27097.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus. {ECO:0000305}
    • The sequence CAB66739.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus. {ECO:0000305}

    Three dimensional structure from PDB (representative) and AlphaFold (predicted) for TSHZ3 Gene

    NEW
    Model Confidence:
    Very high (pLDDT > 90)
    Confident (90 > pLDDT > 70)
    Low (70 > pLDDT > 50)
    Very low (pLDDT < 50)
    PDB ID PDBe RCSB-PDB OCA Proteopedia
    2DMI (3D) (3D) (3D)

neXtProt entry for TSHZ3 Gene

Protein Expression for TSHZ3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TSHZ3 Gene

  • Modification sites at PhosphoSitePlus
    Q63HK5
  • Modification sites at neXtProt
    NX_Q63HK5
  • Glycosylation from GlyGen (Q63HK5) 2 sites, 1 O-linked glycan (2 sites) NEW

Other Protein References for TSHZ3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TSHZ3 Gene

Domains & Families for TSHZ3 Gene

Gene Families for TSHZ3 Gene

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

Protein Domains for TSHZ3 Gene

InterPro:

Suggested Antigen Peptide Sequences for TSHZ3 Gene

GenScript: Design optimal peptide antigens:
  • Teashirt zinc finger homeobox 3 (A1L0U7_HUMAN)
  • Zinc finger protein 537 (TSH3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q63HK5

UniProtKB/Swiss-Prot:

TSH3_HUMAN :
  • Belongs to the teashirt C2H2-type zinc-finger protein family.
Family:
  • Belongs to the teashirt C2H2-type zinc-finger protein family.
Genes that share domains with TSHZ3: view

Function for TSHZ3 Gene

Subsections:

  1. GWAS Phenotypes
  2. GO Terms
  3. MGI/GenomeRNAi Phenotypes

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for TSHZ3 Gene according to UniProtKB/Swiss-Prot

Function:
  • Transcriptional regulator involved in developmental processes.
    Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4.
    TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2.
    Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227).
    Regulates the development of neurons involved in both respiratory rhythm and airflow control.
    Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth.
    Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes.
    Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity).
    Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity). TSH3_HUMAN,Q63HK5

Phenotypes From GWAS Catalog for TSHZ3 Gene

Phenotype Gene Relation Best Score Mean Score # of Snps # of Studies SNP IDs
FEV/FEC ratio 36.7 17.25961 2 3
body mass index 18.0 13.41938 3 3
hematocrit 17.3 17.30103 1 1
chin morphology measurement 14.5 14.52288 1 1
risk-taking behaviour 12.2 9.698071 3 1

Gene Ontology (GO) - Molecular Function for TSHZ3 Gene

IMPROVED
GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 3 5 enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA, IBA
GO:0003677 3 5 enables DNA binding IBA 21873635
GO:0003682 3 5 enables chromatin binding IDA 19343227
GO:0005515 3 5 enables protein binding IPI 19343227
GO:0046872 3 5 enables metal ion binding IEA
Genes that share ontologies with TSHZ3: view
Genes that share phenotypes with TSHZ3: view

Animal Models for TSHZ3 Gene

MGI Knock Outs for TSHZ3:

miRNA for TSHZ3 Gene

miRTarBase miRNAs that target TSHZ3

miRNA products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , NCBI Functional elements , Transcription Factor Targeted Genes and HOMER Transcription for TSHZ3 Gene

Localization for TSHZ3 Gene

Subsections:

  1. Cellular Components

Subcellular locations from UniProtKB/Swiss-Prot for TSHZ3 Gene

Nucleus. Cell projection, growth cone. Note=Colocalizes with APBB1 in axonal growth cone (By similarity). Colocalizes with APBB1 in the nucleus. {ECO:0000250}.

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 TSHZ3 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 2
lysosome 1
mitochondrion 1
cytoskeleton 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TSHZ3 Gene

IMPROVED
GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 3 5 located_in chromatin ISA
GO:0005634 3 5 located_in nucleus IDA, IBA 19343227
GO:0005654 3 5 located_in nucleoplasm IDA
GO:0005886 3 5 located_in plasma membrane IDA
GO:0030426 3 5 located_in growth cone IEA
Genes that share ontologies with TSHZ3: view

Pathways & Interactions for TSHZ3 Gene

Subsections:

  1. String Interactions
  2. Interacting Proteins
  3. Curated Interactions
  4. GO Terms

Additional Pathway Information for TSHZ3 Gene

Interacting Proteins for TSHZ3 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 16)
STRING Interaction Network for TSHZ3
Selected Interacting proteins: Q63HK5-TSH3_HUMAN ENSP00000240587 for TSHZ3 Gene via UniProtKB STRING IID

Symbol External ID(s) Details
MTUS2
CTBP1
CTBP2
TFIP11
ANKRA2
APBB1
APEX2
CEP63
CEP70
GOLGA2
GPR183
HTT
KASH5
KRT40
MAD1L1
MTA1
PSME3
SOX2
SPAG5
TAX1BP1
TRAF2
TRIM23
TRIM27
TRIM54
ACVR1B
GPS-Prot Interaction Network for TSHZ3

SIGNOR curated interactions for TSHZ3 Gene

IMPROVED
Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for TSHZ3 Gene

IMPROVED
GO ID Qualified GO term Evidence PubMed IDs
GO:0002087 3 5 involved_in regulation of respiratory gaseous exchange by nervous system process ISS
GO:0006357 3 5 involved_in regulation of transcription by RNA polymerase II IBA 21873635
GO:0010468 5 regulation of gene expression IEA
GO:0045892 3 5 involved_in negative regulation of DNA-templated transcription IDA 19343227
GO:0051968 3 5 involved_in positive regulation of synaptic transmission, glutamatergic ISS
Genes that share ontologies with TSHZ3: view

No data available for Pathways by source for TSHZ3 Gene

Drugs & Compounds for TSHZ3 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for TSHZ3 Gene

Subsections:

  1. Alternative Splicing
  2. External Links

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for TSHZ3 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

miRNA products for research

Alternative Splicing Database (ASD) splice patterns (SP) for TSHZ3 Gene

No ASD Table

Relevant External Links for TSHZ3 Gene

GeneLoc Exon Structure for
TSHZ3

Expression for TSHZ3 Gene

Subsections:

  1. Expression in stem cells
  2. Protein expression

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSHZ3 Gene

mRNA expression in normal human tissues for TSHZ3 Gene
mRNA expression by GTEx for TSHZ3 GenemRNA expression by BioGPS for TSHZ3 Gene

mRNA differential expression in normal tissues according to GTEx for TSHZ3 Gene

This gene is overexpressed in Ovary (x4.7).

Protein differential expression in normal tissues from HIPED for TSHZ3 Gene

This gene is overexpressed in Liver, secretome (46.5) and Cardia (18.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TSHZ3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSHZ3

SOURCE GeneReport for Unigene cluster for TSHZ3 Gene:

Hs.278436

mRNA Expression by UniProt/SwissProt for TSHZ3 Gene:

Q63HK5-TSH3_HUMAN
Tissue specificity: Expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease (PubMed:18776146, PubMed:19343227). Expressed in the fetal neocortex (PubMed:27668656).

Evidence on tissue expression from TISSUES for TSHZ3 Gene

  • Nervous system(4.7)
  • Thyroid gland(2.2)

Bgee gene expression patterns for TSHZ3 gene:

  • Expressed in cortical plate, right ovary, left ovary and 148 other tissues.
Genes that share expression patterns with TSHZ3: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSHZ3 Gene

Orthologs for TSHZ3 Gene

Subsections:

  1. CladeOScope co-evolved genes

This gene was present in the common ancestor of chordates.

Orthologs for TSHZ3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TSHZ3 28 29
  • 99.33 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TSHZ3 29
  • 94 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TSHZ3 29
  • 92 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TSHZ3 28 29
  • 90.44 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TSHZ3 28 29
  • 89.64 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tshz3 28
  • 88.51 (n)
Mouse
(Mus musculus)
 Mammalia Tshz3 28 16 29
  • 88.5 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves TSHZ3 28 29
  • 79.3 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TSHZ3 29
  • 90 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tshz3 28
  • 75.74 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.9022 28
Zebrafish
(Danio rerio)
 Actinopterygii TSHZ3 (1 of 2) 29
  • 72 (a)
 OneToMany
tshz3b 28
  • 71.05 (n)
TSHZ3 (2 of 2) 29
  • 50 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5824 29
  • 17 (a)
 OneToMany
Species where no ortholog for TSHZ3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 TSHZ3 Gene

ENSEMBL:
Gene Tree for TSHZ3 (if available)
TreeFam:
Gene Tree for TSHZ3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSHZ3: view image
Alliance of Genome Resources:
Additional Orthologs for TSHZ3

CladeOScope co-evolved genes for TSHZ3 gene NEW

Clade Top 10 Co-Evolved Genes Normalized Phylogenetic Profile HeatMap (PPH)
Top Genes From All Clades
Eukaryota
Chordata
Mammalia
Fungi
Viridiplantae
Archelosauria
Ecdysozoa
Nematoda
Arthropoda
Platyhelminthes
Alveolata
Stramenopiles
Fungi_Incertae_Sedis
Ascomycota
Basidiomycota
Liliopsida
Eudicotyledons

Paralogs for TSHZ3 Gene

Paralogs for TSHZ3 Gene

(2) SIMAP paralogs for TSHZ3 Gene using alignment to 4 proteins:

  • TSH3_HUMAN
  • A1L0U7_HUMAN
  • U3KQ78_HUMAN
  • U3KQH9_HUMAN
Genes that share paralogs with TSHZ3: view

Variants for TSHZ3 Gene

Subsections:

  1. Variation Tolerance
  2. External Links

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSHZ3 Gene

IMPROVED
SNP ID Clinical significance and condition Chr 19 pos Variation AA Info # Cit Type
rs193921027 5 109

Uncertain significance: Prostate Cancer

31,278,612(-) G/ANM_020856.4(TSHZ3):c.1181C>T (p.Ser394Leu)
MISSENSE
rs373477520 5 109

Likely Benign: not provided

31,277,777(-) G/ANM_020856.4(TSHZ3):c.2016C>T (p.Ser672=)
SYNONYMOUS
1241314

Benign: not provided

31,279,103(-) C/TNM_020856.4(TSHZ3):c.690G>A (p.Thr230=)
SYNONYMOUS 2
1248896

Benign: not provided

31,277,510(-) A/GNM_020856.4(TSHZ3):c.2283T>C (p.Ala761=)
SYNONYMOUS 4
rs139270246 5 109

Benign: not provided

31,278,095(-) C/TNM_020856.4(TSHZ3):c.1698G>A (p.Ser566=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TSHZ3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TSHZ3 Gene

Variant ID Type Subtype PubMed ID
nsv833804 CNV gain 17160897
nsv2461 CNV insertion 18451855
nsv4257318 CNV deletion 32461652
dgv1149n166 CNV duplication 32461652
nsv4261274 CNV deletion 32461652
nsv4256267 CNV deletion 32461652
nsv4544747 CNV insertion 32461652
esv2630638 CNV insertion 19546169
esv3670181 CNV novel sequence insertion 25597990
nsv4506176 CNV alu insertion 32461652
nsv3345570 CNV alu insertion 30661756
esv1467238 CNV insertion 17803354
esv3659865 CNV insertion 25597990
nsv4269319 CNV deletion 32461652
nsv4553195 CNV insertion 32461652
nsv1061083 CNV gain 25217958
nsv1127673 CNV deletion 24896259
nsv579299 CNV loss 21841781
esv2718452 CNV deletion 23290073
esv2718453 CNV deletion 23290073
esv2068753 CNV deletion 18987734
esv3659263 CNV deletion 25597990
esv5122 CNV loss 18987735
dgv1767n106 CNV deletion 24896259
esv2668990 CNV deletion 23128226
esv3556285 CNV deletion 23714750
nsv3351746 CNV deletion 30661756
nsv4257475 CNV deletion 32461652
esv3659866 CNV insertion 25597990
esv3659867 CNV insertion 25597990
nsv4511111 CNV alu insertion 32461652
esv3659869 CNV insertion 25597990
nsv4506637 CNV alu insertion 32461652
nsv4259823 CNV duplication 32461652
nsv510764 CNV deletion 20534489
nsv4514877 CNV alu insertion 32461652
esv25402 CNV loss 19812545
esv2718454 CNV deletion 23290073
nsv472228 CNV novel sequence insertion 20440878
nsv4501029 CNV alu insertion 32461652
nsv4510924 CNV alu insertion 32461652
nsv4264998 CNV deletion 32461652
nsv4262899 CNV deletion 32461652
nsv4255118 CNV deletion 32461652
nsv4330642 OTHER inversion 32461652
nsv4269403 CNV deletion 32461652
nsv828522 CNV gain 20364138
nsv4271676 CNV deletion 32461652
SVs/CNVs around TSHZ3 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

Variation tolerance for TSHZ3 Gene

Residual Variation Intolerance Score: 13.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.03; 50.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSHZ3 Gene

Mastermind
See all genomic literature for TSHZ3 gene in Mastermind NEW
Human Gene Mutation Database (HGMD)
TSHZ3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSHZ3
Leiden Open Variation Database (LOVD)
TSHZ3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSHZ3 Gene

Disorders for TSHZ3 Gene

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  1. Uniprot disorders
  2. External links

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(7) MalaCards diseases for TSHZ3 Gene - From: DISEASES and GeneCards IMPROVED

Disorder Aliases PubMed IDs
Hydronephrosis 1 64
  • Stricture Of Ureteropelvic Junction With Hydronephrosis
  • Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
Prune Belly Syndrome 64
  • Eagle-Barrett Syndrome
  • Abdominal Muscle Deficiency Syndrome
  • PBS
  • Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism
  • Egbrs
  • Eagle-Barret Syndrome
  • Urethral Obstruction Sequence
  • Obrinsky Syndrome
  • Triad Syndrome
  • Obrisnksy Syndrome
  • Euos
  • Early Urethral Obstruction Sequence
  • Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction
  • Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism
  • Abdomen Muscle Deficiency Syndrome
  • Abdomen Muscular Deficiency Syndrome
  • Abdominal Muscular Deficiency Syndrome
  • Abdominal Muscle Aplasia Syndrome
Calvarial Doughnut Lesions With Bone Fragility 64
  • Calvarial Doughnut Lesions With Bone Fragility With Or Without Spondylometaphyseal Dysplasia
  • Calvarial Doughnut Lesions-Bone Fragility Syndrome
  • CDL
  • Doughnut Lesions Of Skull, Familial
  • Calvarial Doughnut Lesions With Bone Fragility And Spondylometaphyseal Dysplasia
  • Familial Doughnut Lesions Of Skull
  • CDLSMD
Urofacial Syndrome 1 64
  • Urofacial Syndrome
  • Ochoa Syndrome
  • Hydronephrosis With Peculiar Facial Expression
  • Ufs
  • Inverted Smile And Occult Neuropathic Bladder
  • Partial Facial Palsy With Urinary Abnormalities
  • UFS1
  • Urofacial Ochoa'S Syndrome
  • Urofacial Syndrome Type 1
  • Facial Palsy, Partial, With Urinary Abnormalities
  • Hydronephrosis-Inverted Smile
  • Inverted Smile-Neurogenic Bladder
  • Hydronephrosis-Inverted Smile Syndrome
  • Inverted Smile-Neurogenic Bladder Syndrome
  • Partial Facial Palsy Partial With Urinary Abnormalities
  • Urologic Diseases
Lagophthalmos 64
  • Defective Lid Closure
  • Poor Closure Eyelids
- elite association - COSMIC cancer census association via MalaCards
Search TSHZ3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TSH3_HUMAN
  • Note=TSHZ3 haploinsufficiency due to proximal chromosome 19q13.11 deletions causes a neurodevelopmental disorder characterized by developmental delay, absent or delayed speech, intellectual disability, and autistic features. Some patients may have reanal tract abnormalities. {ECO:0000269 PubMed:27668656}.

Additional Disease Information for TSHZ3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
Cancer Target Discovery and Development
(CTD² Dashboard)
The FABRIC Cancer Portal
(FABRIC)
Genes that share disorders with TSHZ3: view

No data available for GENATLAS for TSHZ3 Gene

Publications for TSHZ3 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 39
  2. FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. (PMID: 19343227) Kajiwara Y … Buxbaum JD (PloS one 2009) 3 4 96
  3. TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. (PMID: 27668656) Caubit X … Fasano L (Nature genetics 2016) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 39
  5. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need AC … Goldstein DB (Human molecular genetics 2009) 3 39

ExternalLinks

See all genomic literature for TSHZ3 gene in Mastermind NEW

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