TSHZ3

TSHZ3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DMI
Identifiers
Aliases	TSHZ3, TSH3, ZNF537, teashirt zinc finger homeobox 3
External IDs	OMIM: 614119; MGI: 2442819; HomoloGene: 10835; GeneCards: TSHZ3; OMA:TSHZ3 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q12 Start 31,149,979 bp[1] End 31,349,436 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B2 Start 36,397,543 bp[2] End 36,472,978 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in smooth muscle tissue myometrium canal of the cervix endometrium left uterine tube saphenous vein endothelial cell gastric mucosa prostate urinary bladder Top expressed in ascending aorta aortic valve piriform cortex coelomic epithelium vas deferens external carotid artery internal carotid artery prefrontal cortex respiratory epithelium olfactory epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding DNA binding chromatin binding protein binding DNA-binding transcription repressor activity, RNA polymerase II-specific nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cell projection growth cone nucleus nucleoplasm Biological process regulation of gene expression regulation of transcription, DNA-templated transcription, DNA-templated regulation of respiratory gaseous exchange by nervous system process negative regulation of transcription, DNA-templated multicellular organism development regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II positive regulation of synaptic transmission, glutamatergic long-term potentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57616 243931 Ensembl ENSG00000121297 ENSMUSG00000021217 UniProt Q63HK5 Q8CGV9 RefSeq (mRNA) NM_020856 NM_172298 RefSeq (protein) NP_065907 NP_758502 Location (UCSC) Chr 19: 31.15 – 31.35 Mb Chr 7: 36.4 – 36.47 Mb PubMed search [3] [4]
Wikidata
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Teashirt homolog 3 is a protein that in humans is encoded by the TSHZ3 gene.^[5] In mice, it is a necessary part of the neural circuitry that controls breathing. The gene is also a homolog of the Drosophila melanogaster teashirt gene, which encodes a zinc finger transcription factor important for development of the trunk.^[6]

Tshz3-knockout mice do not develop the respiratory rhythm generator (RRG) neural circuit, which is a pacemaker that produces an oscillating rhythm in the brainstem and controls autonomous breathing. The RRG neurons are present, but are abnormal. Those mice do not survive because they don't initiate breathing after birth. Tshz3 is being studied for its relationship to infant breathing defects in humans.^[7]

TSHZ3 has been identified as a critical region for a syndrome associated with heterozygous deletions at 19q12-q13.11, which includes autism spectrum disorder (ASD) symptoms such autistic traits, speech disturbance and intellectual disability, as well as renal tract abnormalities. Mice with heterozygous Tshz3 deletion (Tshz3^lacZ/+) show enrichment of ASD-related gene orthologs in the cerebral cortex, functional alterations of corticostriatal circuitry and ASD-relevant behavioral abnormalities. ^[8]

Postnatal conditional deletion of Tshz3 in mouse induces behavioral deficits mimicking ASD, as well as abnormalities in synaptic transmission and plasticity in the corticostriatal circuit. These changes are associated to dysregulation of the cortical expression of more than 1000 genes, in particular coding for synaptic components, half of which has human orthologues involved in ASD.^[9]

References

Further reading

External links

• Overview of all the structural information available in the PDB for UniProt: Q63HK5 (Teashirt homolog 3) at the PDBe-KB.

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