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

Gene ID: 7773, updated on 2-Nov-2024

Summary

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Official Symbol
ZNF230provided by HGNC
Official Full Name
zinc finger protein 230provided by HGNC
Primary source
HGNC:HGNC:13024
See related
Ensembl:ENSG00000159882 MIM:620998; 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 activity and metal ion binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
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

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See ZNF230 in Genome Data Viewer
Location:
19q13.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44002957..44013924)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (46825870..46836839)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44507109..44518076)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14747 Neighboring gene zinc finger protein 221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10732 Neighboring gene zinc finger protein 155 Neighboring gene ZNF230 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14748 Neighboring gene ZNF222 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14750 Neighboring gene zinc finger protein 222

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. [Construction of recombinant ZNF230/GFP fused plasmids and their expression and cellular localization]. Xu WM, et al. Yi Chuan, 2004 Jul. PMID 15640038
  2. Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia. Dong JT, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2005 Jun. PMID 15952109
  3. Spermatogenesis-related ring finger gene ZNF230 promoter: identification and functional analysis. Xu W, et al. Mol Biol Rep, 2009 May. PMID 18584306
  4. The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis. Zhang S, et al. Biochem J, 2001 Nov 1. PMID 11672448, Free PMC Article
  5. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Treviño LR, et al. Nat Genet, 2009 Sep. PMID 19684603, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
Submit: New GeneRIF Correction

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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)

  1. 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]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    44002957..44013924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    46825870..46836839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UIE0.3 GenPept UniProtKB/Swiss-Prot:Q9UIE0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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