ZIC2 Zic family member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZIC2provided by HGNC
Official Full Name: Zic family member 2provided by HGNC
Primary source: HGNC:HGNC:12873
See related: Ensembl:ENSG00000043355 MIM:603073; AllianceGenome:HGNC:12873
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: HPE5
Summary: This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]
Expression: Biased expression in brain (RPKM 3.1) and testis (RPKM 0.7) See more
Orthologs: mouse all
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Genomic context

Location:: 13q32.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (99981784..99986765)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (99192694..99197676)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (100634038..100639019)

Chromosome 13 - NC_000013.11 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: 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?

ZIC2 accelerates growth and stemness in gastric cancer through the Wnt/beta-catenin pathway.
Title: ZIC2 accelerates growth and stemness in gastric cancer through the Wnt/β-catenin pathway.
FOXM1-regulated ZIC2 promotes the malignant phenotype of renal clear cell carcinoma by activating UBE2C/mTOR signaling pathway.
Title: FOXM1-regulated ZIC2 promotes the malignant phenotype of renal clear cell carcinoma by activating UBE2C/mTOR signaling pathway.
ZIC2 induces pro-tumor macrophage polarization in nasopharyngeal carcinoma by activating the JUNB/MCSF axis.
Title: ZIC2 induces pro-tumor macrophage polarization in nasopharyngeal carcinoma by activating the JUNB/MCSF axis.
ZIC2 promotes colorectal cancer growth and metastasis through the TGF-beta signaling pathway.
Title: ZIC2 promotes colorectal cancer growth and metastasis through the TGF-β signaling pathway.
The tumor-suppressive role of microRNA-873 in nasopharyngeal carcinoma correlates with downregulation of ZIC2 and inhibition of AKT signaling pathway.
Title: The tumor-suppressive role of microRNA-873 in nasopharyngeal carcinoma correlates with downregulation of ZIC2 and inhibition of AKT signaling pathway.
Multilevel regulation of Wnt signaling by Zic2 in colon cancer due to mutation of beta-catenin.
Title: Multilevel regulation of Wnt signaling by Zic2 in colon cancer due to mutation of β-catenin.
ZIC2 upregulates lncRNA SNHG12 expression to promote endometrial cancer cell proliferation and migration by activating the Notch signaling pathway.
Title: ZIC2 upregulates lncRNA SNHG12 expression to promote endometrial cancer cell proliferation and migration by activating the Notch signaling pathway.
Correlation of zinc finger protein 2, a prognostic biomarker, with immune infiltrates in liver cancer.
Title: Correlation of zinc finger protein 2, a prognostic biomarker, with immune infiltrates in liver cancer.
Downregulation of LINC00665 suppresses the progression of lung adenocarcinoma via regulating miR-181c-5p/ZIC2 axis.
Title: Downregulation of LINC00665 suppresses the progression of lung adenocarcinoma via regulating miR-181c-5p/ZIC2 axis.
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Title: De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

Submit: New GeneRIF Correction See all GeneRIFs (48)

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

Associated conditions

Description	Tests
Holoprosencephaly 5 MedGen: C1864827 OMIM: 609637 GeneReviews: Holoprosencephaly Overview	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-08-24) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-08-24) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci. 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

NoName (e-PCR)
- UniSTS:481819

NoName (e-PCR)
- UniSTS:482881

D13S1086E (e-PCR)
- UniSTS:153197

RH44495 (e-PCR)
- UniSTS:909

UniSTS:144841 (e-PCR)
- UniSTS:144841

Zic2 (e-PCR), detects polymorphism
- UniSTS:144841

RH80620 (e-PCR)
- UniSTS:83676

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in brain development	TAS Traceable Author Statement more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	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
involved_in visual perception	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear body	IDA Inferred from Direct Assay 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	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: zinc finger protein ZIC 2

Names: Zic family member 2 (odd-paired homolog, Drosophila); Zinc finger protein of the cerebellum 2

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_007085.3 RefSeqGene

Range

5029..10010

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1157

mRNA and Protein(s)

NM_007129.5 → NP_009060.2 zinc finger protein ZIC 2

See identical proteins and their annotated locations for NP_009060.2

Status: REVIEWED

Source sequence(s)

AA491603, AF193855, AL355338

Consensus CDS

CCDS9495.1

UniProtKB/Swiss-Prot

O95409, Q5VYA9, Q9H309

Related

ENSP00000365514.3, ENST00000376335.8

Conserved Domains (3) summary

COG5189
Location:329 → 413

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:307 → 327

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam18366
Location:250 → 295

zf_ZIC; Zic proteins zinc finger domain