ZNF469 zinc finger protein 469 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF469provided by HGNC
Official Full Name: zinc finger protein 469provided by HGNC
Primary source: HGNC:HGNC:23216
See related: Ensembl:ENSG00000225614 MIM:612078; AllianceGenome:HGNC:23216
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: BCS; BCS1; Zfp469
Summary: This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 1.0), endometrium (RPKM 0.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (88100931..88440753)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (94449769..94508741)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (88449367..88507161)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study.
Title: Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study.
New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome.
Title: New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome.
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Title: More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
CXL may be associated with the development of corneal perforation in particular at-risk individuals with keratoconus. Identifying clinical and genetic risk factors, including screening of ZNF469 and PRDM5, may be useful in the prevention of significant complications after CXL.
Title: Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations.
This is the first report of a ZNF469 homozygous mutation causing a Brittle cornea syndrome phenotype in a consanguineous Pakistani family.
Title: Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.
Linc-ZNF469-3 promotes lung metastasis of TNBC through miR-574-5p-ZEB1 signaling axis.
Title: A novel long non-coding RNA linc-ZNF469-3 promotes lung metastasis through miR-574-5p-ZEB1 axis in triple negative breast cancer.
genotype frequencies did not differ between the sporadic or familial keratoconus cases
Title: Polymorphism rs13334190 in zinc finger protein 469 (ZNF469) is not a risk factor for keratoconus in a Saudi cohort.
ZNF469 has a pathogenic role in Chinese patients with keratoconus.
Title: Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population.
New detected ZNF 469 P873T and Q2188H heterozygote coding variants in isolated advance keratoconus patients may be associated with the disease pathogenesis.
Title: Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus.
Rare variants in ZNF469 do not contribute to keratoconus susceptibility and do not account for the association at rs9938149.
Title: Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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
Brittle cornea syndrome 1 MedGen: C0268344 OMIM: 229200 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. EBI GWAS Catalog EBI GWAS CatalogPubMed
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zinc finger protein 469

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_012236.2 RefSeqGene

Range

5001..18283

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001367624.2 → NP_001354553.1 zinc finger protein 469

Status: REVIEWED

Source sequence(s)

AC132804, AC135049, KF456226

Consensus CDS

CCDS92205.1

UniProtKB/Swiss-Prot

H3BS19, Q96JG9

Related

ENSP00000456500.2, ENST00000565624.3

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

88100931..88440753

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047434810.1 → XP_047290766.1 zinc finger protein 469 isoform X1

UniProtKB/Swiss-Prot

H3BS19, Q96JG9

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

94449769..94508741

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314200.1 → XP_054170175.1 zinc finger protein 469 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001127464.2: Suppressed sequence

Description

NM_001127464.2: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.