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    ZNF365 zinc finger protein 365 [ Homo sapiens (human) ]

    Gene ID: 22891, updated on 27-May-2024

    Summary

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    Official Symbol
    ZNF365provided by HGNC
    Official Full Name
    zinc finger protein 365provided by HGNC
    Primary source
    HGNC:HGNC:18194
    See related
    Ensembl:ENSG00000138311 MIM:607818; AllianceGenome:HGNC:18194
    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
    UAN; Su48; ZNF365D
    Summary
    This gene encodes a zinc finger protein that may play a role in the repair of DNA damage and maintenance of genome stability. The N-terminal C2H2 zinc finger motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this gene may be associated with breast cancer susceptibility. [provided by RefSeq, Mar 2020]
    Expression
    Biased expression in brain (RPKM 9.2), esophagus (RPKM 2.1) and 3 other tissues See more
    Orthologs
    mouse all
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    Try the new Transcript table

    Genomic context

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    See ZNF365 in Genome Data Viewer
    Location:
    10q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (62374369..62480285)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (63232222..63338105)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (64134128..64240044)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene rhotekin 2 Neighboring gene NANOG hESC enhancer GRCh37_chr10:64024383-64024884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2397 Neighboring gene long intergenic non-protein coding RNA 2621 Neighboring gene uncharacterized LOC283045 Neighboring gene RNA, 7SL, cytoplasmic 591, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:64143375-64144574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:64224563-64225064 Neighboring gene NANOG hESC enhancer GRCh37_chr10:64242262-64242794 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3417 Neighboring gene uncharacterized LOC105378327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3422 Neighboring gene talanin Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13669 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3424 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:64414839-64416038 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13703 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_13720/13722 and experimental_13723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:64437081-64437582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:64437583-64438082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13731 Neighboring gene aldehyde dehydrogenase 7 family member A1 pseudogene 4

    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. [Association between ZNF365 gene polymorphisms and bronchial asthma in children]. Huang J, et al. Zhongguo Dang Dai Er Ke Za Zhi, 2015 Aug. PMID 26287344
    2. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Couch FJ, et al. Cancer Epidemiol Biomarkers Prev, 2012 Apr. PMID 22351618, Free PMC Article
    3. Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Lindström S, et al. Nat Genet, 2011 Mar. PMID 21278746, Free PMC Article
    4. Variants in ZNF365 isoform D are associated with Crohn's disease. Haritunians T, et al. Gut, 2011 Aug. PMID 21257989, Free PMC Article
    5. Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. Gianfrancesco F, et al. Am J Hum Genet, 2003 Jun. PMID 12740763, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reduced Proliferative Capacity and Defense against Staphylococcus aureus in Human Nasal Mucosal Epithelium Lacking ZNF365.
      Title: Reduced Proliferative Capacity and Defense against Staphylococcus aureus in Human Nasal Mucosal Epithelium Lacking ZNF365.
    2. Potential Role of Zinc Finger 365 rs10822013 and rs10995190 in Mammographic Density, Sporadic Breast Cancer Risk, and Prognosis.
      Title: Potential Role of Zinc Finger 365 rs10822013 and rs10995190 in Mammographic Density, Sporadic Breast Cancer Risk, and Prognosis.
    3. Lack of ZNF365 Drives Senescence and Exacerbates Experimental Lung Fibrosis.
      Title: Lack of ZNF365 Drives Senescence and Exacerbates Experimental Lung Fibrosis.
    4. It regulates cortical cell positioning and neurite extension by sustaining the anterograde transport of Lis1/DISC1 through control of Ndel1 phosphorylation
      Title: [When we have learned about the brain development from a disease-oriented study: DBZ regulates cortical cell positioning and neurite extension by sustaining the anterograde transport of Lis1/DISC1 through control of Ndel1 phosphorylation].
    5. The SNP rs10995251 in ZNF365 gene is associated with the susceptibility to bronchial asthma in children.
      Title: [Association between ZNF365 gene polymorphisms and bronchial asthma in children].
    6. we discuss the expression of DISC1, DBZ, and SGK1 , their roles in the regulation of oligodendrocyte function, possible interactions of DISC1 and DBZ in relation to SZ, and the activation of the SGK1 signaling cascade in relation to MDD.
      Title: Disturbance of oligodendrocyte function plays a key role in the pathogenesis of schizophrenia and major depressive disorder.
    7. We evaluated the association of polymorphisms of ZNF365 gene with the metabolic disorders in children with urolithiasis
      Title: Metabolic abnormalities and polymorphisms of the vitamin D receptor (VDR) and ZNF365 genes in children with urolithiasis.
    8. Single-nucleotide polymorphism in ZNF365 gene is associated with Crohn's disease.
      Title: Immunochip analysis identification of 6 additional susceptibility loci for Crohn's disease in Koreans.
    9. In the absence of ZNF365, defective telomeres engage in aberrant recombination of telomere ends, leading to increased telomere sister chromatid exchange and formation of anaphase DNA bridges, including ultra-fine DNA bridges, and ultimately increased cytokinesis failure and aneuploidy
      Title: ZNF365 promotes stability of fragile sites and telomeres.
    10. These results suggest an homologous recombination repair-dependent function of ZNF365 in preventing genomic instability.
      Title: ZNF365 promotes stalled replication forks recovery to maintain genome stability.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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
    Nephrolithiasis, uric acid, susceptibility to
    MedGen: C2700426 OMIM: 605990 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?
    EBI GWAS Catalog
    A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
    EBI GWAS Catalog
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Common variants in ZNF365 are associated with both mammographic density and breast cancer risk.
    EBI GWAS Catalog
    Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
    EBI GWAS Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog
    Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.
    EBI GWAS Catalog
    Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.
    EBI GWAS Catalog
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    EBI GWAS Catalog
    Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
    EBI GWAS Catalog
    Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium.
    EBI GWAS Catalog
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    EBI GWAS Catalog
    Genome-wide association study identifies five new breast cancer susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
    EBI GWAS Catalog
    Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    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

    • KIAA0844, MGC41821, MGC87345

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 cerebellar molecular layer morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dendrite arborization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dendritic spine morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA strand resection involved in replication fork processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA strand resection involved in replication fork processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomere maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein ZNF365
    Names
    DISC1-binding zinc-finger protein
    protein su48
    talanin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_021209.2 RefSeqGene

      Range
      5178..33259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014951.3 → NP_055766.2  protein ZNF365 isoform A

      See identical proteins and their annotated locations for NP_055766.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) differs in the 3' coding region and UTR compared to variant C. The resulting protein (isoform A) is shorter and has a distinct C-terminus compared to isoform C.
      Source sequence(s)
      AB020651, AC024598, BC017841, BC060817
      Consensus CDS
      CCDS31209.1
      UniProtKB/Swiss-Prot
      A8K0F0, O94930, Q05D75, Q5HYE6, Q68SG8, Q6NSK2, Q6P9D4, Q70YC5, Q70YC6, Q70YC7
      Related
      ENSP00000378674.3, ENST00000395254.8
      Conserved Domains (1) summary
      PRK00286
      Location:159 → 314
      xseA; exodeoxyribonuclease VII large subunit; Reviewed

    2. NM_199450.3 → NP_955522.1  protein ZNF365 isoform B

      See identical proteins and their annotated locations for NP_955522.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) differs in the 3' coding region and UTR compared to variant C. The resulting protein (isoform B) is shorter and has a distinct C-terminus compared to isoform C.
      Source sequence(s)
      AJ505148, BC017841, BF512570
      Consensus CDS
      CCDS41531.1
      UniProtKB/Swiss-Prot
      Q70YC5
      Related
      ENSP00000378675.3, ENST00000395255.7
      Conserved Domains (1) summary
      TIGR02168
      Location:177 → 290
      SMC_prok_B; chromosome segregation protein SMC, common bacterial 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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      62374369..62480285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      63232222..63338105
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199451.3: Suppressed sequence

      Description
      NM_199451.3: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.

    2. NM_199452.3: Suppressed sequence

      Description
      NM_199452.3: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q70YC4.2 GenPept UniProtKB/Swiss-Prot:Q70YC4
    Q70YC5.3 GenPept UniProtKB/Swiss-Prot:Q70YC5

    Gene LinkOut

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

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    Chemical Information
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