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ZNF592 zinc finger protein 592 [ Homo sapiens (human) ]

Gene ID: 9640, updated on 7-Apr-2024

Summary

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Official Symbol
ZNF592provided by HGNC
Official Full Name
zinc finger protein 592provided by HGNC
Primary source
HGNC:HGNC:28986
See related
Ensembl:ENSG00000166716 MIM:613624; AllianceGenome:HGNC:28986
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
CAMOS; SCAR5
Summary
This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in testis (RPKM 8.9), ovary (RPKM 8.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
15q25.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (84748592..84806445)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (82500980..82558805)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85291823..85349676)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85229719-85230218 Neighboring gene neuromedin B Neighboring gene SEC11 homolog A, signal peptidase complex subunit Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85259023-85259588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85259589-85260154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85260155-85260718 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:85276857-85277760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85291347-85292186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9992 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85303845-85304346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85309319-85309820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85309821-85310320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85326319-85326906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85325731-85326318 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41909 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85346873-85347374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85347375-85347874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85359685-85360215 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85362343-85362874 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85362875-85363404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85370192-85370692 Neighboring gene skeletal muscle cis-regulatory module overlapping ALPK3 Neighboring gene alpha kinase 3 Neighboring gene uncharacterized LOC124900361 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85405349-85405850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85406419-85406920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85406921-85407420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85426972-85427472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85427473-85427973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85432908-85433476 Neighboring gene solute carrier family 28 member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85467385-85467885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9995 Neighboring gene RNA, U6 small nuclear 339, pseudogene

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
  • 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. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. Delague V, et al. Neurogenetics, 2002 Mar. PMID 12030328
  2. New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. Mégarbané A, et al. Am J Med Genet, 2001 Jun 15. PMID 11391656
  3. Genetic and epigenetic silencing of SCARA5 may contribute to human hepatocellular carcinoma by activating FAK signaling. Huang J, et al. J Clin Invest, 2010 Jan. PMID 20038795, Free PMC Article
  4. Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest. Arking DE, et al. PLoS One, 2010 Mar 25. PMID 20360844, Free PMC Article
  5. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. Nicolas E, et al. Eur J Hum Genet, 2010 Oct. PMID 20531441, Free PMC Article

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. plasma membrane protein SCARA5 can contribute to human hepatocellular carcinoma (HCC) tumorigenesis and metastasis via activation of the FAK signaling pathway.
    Title: Genetic and epigenetic silencing of SCARA5 may contribute to human hepatocellular carcinoma by activating FAK signaling.
  2. ZNF592 is idenified as the gene responsible for Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities, a rare, nonprogressive, cerebellar ataxia syndrome.
    Title: CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
  3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest.
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

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2021-10-14)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2021-10-14)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0211, MGC138437, MGC138439

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 PH domain binding IEA
Inferred from Electronic Annotation
more info
  
enables insulin receptor substrate binding IEA
Inferred from Electronic Annotation
more info
  
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 negative regulation of insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of peptidyl-tyrosine phosphorylation 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 592

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

  1. NG_028094.2 RefSeqGene

    Range
    5006..62859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014630.3 → NP_055445.2  zinc finger protein 592

    See identical proteins and their annotated locations for NP_055445.2

    Status: REVIEWED

    Source sequence(s)
    AA835974, AC012291, BG757479, BQ217254, D86966
    Consensus CDS
    CCDS32317.1
    UniProtKB/Swiss-Prot
    Q2M1T2, Q504Y9, Q92610
    Related
    ENSP00000452877.2, ENST00000560079.7
    Conserved Domains (3) summary
    sd00017
    Location:742 → 762
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:985 → 1006
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam16622
    Location:1149 → 1177
    zf-C2H2_11; zinc-finger C2H2-type

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

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    84748592..84806445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254996.4 → XP_005255053.1  zinc finger protein 592 isoform X1

    See identical proteins and their annotated locations for XP_005255053.1

    UniProtKB/Swiss-Prot
    Q2M1T2, Q504Y9, Q92610
    Related
    ENSP00000299927.3, ENST00000299927.4
    Conserved Domains (3) summary
    sd00017
    Location:742 → 762
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:985 → 1006
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam16622
    Location:1149 → 1177
    zf-C2H2_11; zinc-finger C2H2-type

  2. XM_011522246.3 → XP_011520548.1  zinc finger protein 592 isoform X1

    See identical proteins and their annotated locations for XP_011520548.1

    UniProtKB/Swiss-Prot
    Q2M1T2, Q504Y9, Q92610
    Conserved Domains (3) summary
    sd00017
    Location:742 → 762
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:985 → 1006
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam16622
    Location:1149 → 1177
    zf-C2H2_11; zinc-finger C2H2-type

  3. XM_011522247.3 → XP_011520549.1  zinc finger protein 592 isoform X1

    See identical proteins and their annotated locations for XP_011520549.1

    UniProtKB/Swiss-Prot
    Q2M1T2, Q504Y9, Q92610
    Conserved Domains (3) summary
    sd00017
    Location:742 → 762
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:985 → 1006
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam16622
    Location:1149 → 1177
    zf-C2H2_11; zinc-finger C2H2-type

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    82500980..82558805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379262.1 → XP_054235237.1  zinc finger protein 592 isoform X1

  2. XM_054379261.1 → XP_054235236.1  zinc finger protein 592 isoform X1

  3. XM_054379263.1 → XP_054235238.1  zinc finger protein 592 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92610.2 GenPept UniProtKB/Swiss-Prot:Q92610

Gene LinkOut

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