ZNF230 zinc finger protein 230 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF230provided by HGNC
Official Full Name: zinc finger protein 230provided by HGNC
Primary source: HGNC:HGNC:13024
See related: Ensembl:ENSG00000159882 AllianceGenome:HGNC:13024
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FDZF2
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary (RPKM 1.7), thyroid (RPKM 1.6) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 19q13.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (44002957..44013924)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (46825870..46836839)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (44507109..44518076)

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
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?

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.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
ZNF230 is tightly controlled at transcriptional level and a common mechanism controls the basal transcription of ZNF230 gene.
Title: Spermatogenesis-related ring finger gene ZNF230 promoter: identification and functional analysis.
ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level.
Title: Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic susceptibility to distinct bladder cancer subphenotypes.

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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
Germline genomic variants associated with childhood acute lymphoblastic leukemia. 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

D11S2921 (e-PCR)
- UniSTS:152074

ZNF230_8758 (e-PCR)
- UniSTS:467989

NoName (e-PCR)
- UniSTS:482884

L18426 (e-PCR)
- UniSTS:34648

NoName (e-PCR)
- UniSTS:492425

D5S1597E (e-PCR)
- UniSTS:151019

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
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info

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 230

Names: zinc finger protein FDZF2

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.

mRNA and Protein(s)

NM_006300.4 → NP_006291.2 zinc finger protein 230

See identical proteins and their annotated locations for NP_006291.2

Status: VALIDATED

Source sequence(s)

AC006213, AC018725, AC067968

Consensus CDS

CCDS33044.1

UniProtKB/Swiss-Prot

O15322, Q504X7, Q86W84, Q9P1U6, Q9UIE0

Related

ENSP00000409318.1, ENST00000429154.7

Conserved Domains (4) summary

smart00349
Location:8 → 65

KRAB; krueppel associated box

COG5048
Location:278 → 427

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

COG5189
Location:214 → 298

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

sd00017
Location:338 → 358

ZF_C2H2; C2H2 Zn finger [structural motif]