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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
    mouse all
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    Genomic context

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    See ZNF592 in Genome Data Viewer
    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

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

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