ZIC5 Zic family member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZIC5provided by HGNC
Official Full Name: Zic family member 5provided by HGNC
Primary source: HGNC:HGNC:20322
See related: Ensembl:ENSG00000139800 MIM:617896; AllianceGenome:HGNC:20322
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
Summary: This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this gene has been observed in various human cancers and may contribute to cancer progression. This gene is closely linked to a related family member on chromosome 13. [provided by RefSeq, Mar 2017]
Expression: Restricted expression toward testis (RPKM 2.7) See more
Orthologs: mouse all
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Genomic context

Location:: 13q32.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (99962964..99971909, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (99173877..99182820, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (100615218..100624163, complement)

Chromosome 13 - NC_000013.11 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
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?

MicroRNA-101-3p inhibits nasopharyngeal carcinoma cell proliferation and cisplatin resistance through ZIC5 down-regulation by targeting SOX2.
Title: MicroRNA-101-3p inhibits nasopharyngeal carcinoma cell proliferation and cisplatin resistance through ZIC5 down-regulation by targeting SOX2.
LINC01116 Regulates the Proliferation and Apoptosis of Nucleus Pulposus Cells through miR-9-5p-mediated ZIC5 and the Wnt Pathway and Affects the Progression of Intervertebral Disc Degeneration.
Title: LINC01116 Regulates the Proliferation and Apoptosis of Nucleus Pulposus Cells through miR-9-5p-mediated ZIC5 and the Wnt Pathway and Affects the Progression of Intervertebral Disc Degeneration.
ZIC5 promotes aggressiveness and cancer stemness in cervical squamous cell carcinoma.
Title: ZIC5 promotes aggressiveness and cancer stemness in cervical squamous cell carcinoma.
Transcriptional expression of ZICs as an independent indicator of survival in gliomas.
Title: Transcriptional expression of ZICs as an independent indicator of survival in gliomas.
SP1-mediated upregulation of lncRNA SNHG4 functions as a ceRNA for miR-377 to facilitate prostate cancer progression through regulation of ZIC5.
Title: SP1-mediated upregulation of lncRNA SNHG4 functions as a ceRNA for miR-377 to facilitate prostate cancer progression through regulation of ZIC5.
Interfering Wnt/-catenin-Zic5 axis-regulated aerobic glycolysis represents a potentially effective strategy to selectively target colon cancer cells.
Title: β-Catenin/Tcf7l2-dependent transcriptional regulation of GLUT1 gene expression by Zic family proteins in colon cancer.
The study reveals a novel mechanism of ZIC5/beta-catenin that mediates the invasion and metastasis of HCC and ZIC5 serves as a novel indicator for prognosis of hepatocellular carcinoma (HCC) patients.
Title: ZIC5 facilitates the growth of hepatocellular carcinoma through activating Wnt/β-catenin pathway.
hsa_circ_0007534 serves as an oncogene in glioma via promoting ZIC5 expression by repressing miR-761 availability.
Title: Hsa_circ_0007534/miR-761/ZIC5 regulatory loop modulates the proliferation and migration of glioma cells.
ZIC5 positively regulated the proliferation, migration, and survival of prostate colorectal cancer cells
Title: Identification of zinc finger protein of the cerebellum 5 as a survival factor of prostate and colorectal cancer cells.
ZIC5 is highly upregulated in non-small cell lung cancer tumor tissues and may act as an oncogene by influencing CCNB1 and CDK1 complex expression
Title: Overexpression of ZIC5 promotes proliferation in non-small cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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 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

RH11313 (e-PCR)
- UniSTS:29943

ZIC5_2281 (e-PCR)
- UniSTS:281087

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 metal ion binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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 regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zinc finger protein ZIC 5

Names: Zic family member 5 (odd-paired homolog, Drosophila); zinc finger protein of the cerebellum 5

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_053065.1 RefSeqGene

Range

5158..13961

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_033132.5 → NP_149123.3 zinc finger protein ZIC 5

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the protein.

Source sequence(s)

AL355338

Consensus CDS

CCDS9494.3

UniProtKB/Swiss-Prot

Q5VYB0, Q96T25

Related

ENSP00000267294.4, ENST00000267294.5

Conserved Domains (3) summary

COG5048
Location:405 → 551

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:441 → 461

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam18366
Location:366 → 429

zf_ZIC; Zic proteins zinc finger domain

RNA

NR_146224.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate internal exon, resulting in a longer transcript 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)

AL355338, CB129979
NR_146225.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5' exon compared to variant 1, resulting in a shorter transcript compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AL355338, CB129979