TSHZ3 teashirt zinc finger homeobox 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSHZ3provided by HGNC
Official Full Name: teashirt zinc finger homeobox 3provided by HGNC
Primary source: HGNC:HGNC:30700
See related: Ensembl:ENSG00000121297 MIM:614119; AllianceGenome:HGNC:30700
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: TSH3; ZNF537
Summary: 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]
Expression: Broad expression in ovary (RPKM 16.6), endometrium (RPKM 15.6) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (31149876..31350877, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (33668134..33868018, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (31640782..31840342, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The study reveals a crucial postnatal role of TSHZ3 in the development and functioning of the corticostriatal circuitry and provides evidence that dysfunction in these circuits might be determinant for autism spectrum disorder pathogenesis.
Title: Postnatal Tshz3 Deletion Drives Altered Corticostriatal Function and Autism Spectrum Disorder-like Behavior.
that miR-338-5p has a function in promoting glioma cell invasion by targeting TSHZ3 suppression on MMP2
Title: MiR-338-5p Promotes Glioma Cell Invasion by Regulating TSHZ3 and MMP2.
strong experimental evidence for a causal relationship between Tshz3 heterozygosity, functional defaults in cortical projection neurons, and autism spectrum disorder
Title: TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
Gene product expressions of SHH, TBX18 and TSHZ3 are statistically higher in patients with UPJ obstruction, when compared with control group. The explanation may be the reactivation of the processes, which had shown their effects in the embryological period, due to the chronic inflammation and long-term micro-trauma created by the disease
Title: Sonic hedgehog, TBX18, and TSHZ3 proteins involved in pyeloureteral motility development are overexpressed in ureteropelvic junction obstruction. An immunohistochemical, histopathological, and clinical comparative study.
Gli3 and Teashirt3 might play an important role in the normal development of the ureter.
Title: The Expression of Gli3 and Teashirt3 in the Stenotic Tissue of Congenital Pelvi-Ureteric Junction Obstruction in Children.
The dynamic expression of Sox9 and the interaction between TSHZ3, SOX9 and MYOCD provide a mechanism that regulates the pace the myogenic program in the ureter.
Title: TSHZ3 and SOX9 regulate the timing of smooth muscle cell differentiation in the ureter by reducing myocardin activity.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. EBI GWAS Catalog EBI GWAS CatalogPubMed
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99014 (e-PCR)
- UniSTS:91398

CHLC.GCT2C12 (e-PCR)
- UniSTS:71483

RH46365 (e-PCR)
- UniSTS:75091

G60069 (e-PCR)
- UniSTS:137330

TSHZ3 (e-PCR)
- UniSTS:504460

RH65085 (e-PCR)
- UniSTS:43693

WI-15249 (e-PCR)
- UniSTS:82380

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 chromatin binding	IDA Inferred from Direct Assay more info	PubMed
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 long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of synaptic transmission, glutamatergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of respiratory gaseous exchange by nervous system process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: teashirt homolog 3

Names: teashirt family zinc finger 3; zinc finger protein 537

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

NG_051203.1 RefSeqGene

Range

5090..79581

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020856.4 → NP_065907.2 teashirt homolog 3

See identical proteins and their annotated locations for NP_065907.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the protein.

Source sequence(s)

AC025809, AI015687, AL136805, BX648745, CN256026, DB460052

Consensus CDS

CCDS12421.2

UniProtKB/Swiss-Prot

A1L0U7, Q63HK5, Q9H0G6, Q9P254

UniProtKB/TrEMBL

A8K601

Related

ENSP00000240587.4, ENST00000240587.5

Conserved Domains (2) summary

cd00086
Location:892 → 960

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:216 → 238

ZF_C2H2; C2H2 Zn finger [structural motif]

RNA

NR_138034.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC025809, AI380291, DB460052
NR_138035.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon and contains several additional 3' exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC020952, AC025809
NR_138036.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon and contains several additional 3' exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC020952, AC025809