TSHZ2 teashirt zinc finger homeobox 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSHZ2provided by HGNC
Official Full Name: teashirt zinc finger homeobox 2provided by HGNC
Primary source: HGNC:HGNC:13010
See related: Ensembl:ENSG00000182463 MIM:614118; AllianceGenome:HGNC:13010
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: TSH2; ZABC2; ZNF218; OVC10-2; C20orf17
Summary: 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]
Expression: Ubiquitous expression in gall bladder (RPKM 3.9), ovary (RPKM 3.7) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (52972358..53495330)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (54743639..55267611)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (51588897..52111869)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TSHZ2 is an EGF-regulated tumor suppressor that binds to the cytokinesis regulator PRC1 and inhibits metastasis.
Title: TSHZ2 is an EGF-regulated tumor suppressor that binds to the cytokinesis regulator PRC1 and inhibits metastasis.
Overexpression of Teashirt Homolog 2 suppresses cell proliferation and predicts the favorable survival of Lung Adenocarcinoma.
Title: Overexpression of Teashirt Homolog 2 suppresses cell proliferation and predicts the favorable survival of Lung Adenocarcinoma.
Down-regulation of TSHZ2 is crucial for mammary tumorigenesis via the activation of GLI1.
Title: Down-regulation of the zinc-finger homeobox protein TSHZ2 releases GLI1 from the nuclear repressor complex to restore its transcriptional activity during mammary tumorigenesis.
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.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci influence erythrocyte phenotypes in 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

D20S902 (e-PCR)
- UniSTS:51713

RH119557 (e-PCR)
- UniSTS:132640

Z94375 (e-PCR)
- UniSTS:76832

D8S2279 (e-PCR)
- UniSTS:473907

D20S1020 (e-PCR)
- UniSTS:63286

SHGC-148530 (e-PCR)
- UniSTS:176444

Z94627 (e-PCR)
- UniSTS:58942

SGC31010 (e-PCR)
- UniSTS:6735

RH78528 (e-PCR)
- UniSTS:15703

G01520 (e-PCR)
- UniSTS:29792

AL022262 (e-PCR)
- UniSTS:80740

Z94409 (e-PCR)
- UniSTS:32361

Z94675 (e-PCR)
- UniSTS:10092

D20S183 (e-PCR), detects polymorphism
- UniSTS:71277

RH36244 (e-PCR)
- UniSTS:58503

D20S854 (e-PCR)
- UniSTS:63624

SHGC-80749 (e-PCR)
- UniSTS:102282

SHGC-56787 (e-PCR)
- UniSTS:12688

SHGC-77795 (e-PCR)
- UniSTS:101015

RH65195 (e-PCR)
- UniSTS:91582

SHGC-78041 (e-PCR)
- UniSTS:101572

RH69807 (e-PCR)
- UniSTS:54221

SHGC-78826 (e-PCR)
- UniSTS:95698

D20S183 (e-PCR), detects polymorphism
- UniSTS:59347

WI-16697 (e-PCR)
- UniSTS:68564

RH47901 (e-PCR)
- UniSTS:2784

SHGC-78862 (e-PCR)
- UniSTS:95712

Z94392 (e-PCR)
- UniSTS:78312

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 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 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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: teashirt homolog 2

Names: cell growth-inhibiting protein 7; ovarian cancer-related protein 10-2; serologically defined colon cancer antigen 33 like; teashirt family zinc finger 2; zinc finger protein 218

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_053184.1 RefSeqGene

Range

5050..528022

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001193421.2 → NP_001180350.1 teashirt homolog 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK302570, AL354993, AL391097, BQ574274, BX276189

Consensus CDS

CCDS54474.1

UniProtKB/Swiss-Prot

Q9NRE2

Related

ENSP00000475114.1, ENST00000603338.2

Conserved Domains (2) summary

cd00086
Location:839 → 907

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:214 → 236

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_173485.6 → NP_775756.3 teashirt homolog 2 isoform 1

See identical proteins and their annotated locations for NP_775756.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL121902, AL354993, BQ574274, BX276189, BX640770

Consensus CDS

CCDS33490.1

UniProtKB/Swiss-Prot

B7Z7W1, J3KNQ0, Q4VXM4, Q6N003, Q8N260, Q9NRE2

Related

ENSP00000360552.3, ENST00000371497.10

Conserved Domains (2) summary

cd00086
Location:842 → 910

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:217 → 239

ZF_C2H2; C2H2 Zn finger [structural motif]