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

Gene ID: 22891, updated on 5-Mar-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
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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. 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.
  2. Lack of ZNF365 Drives Senescence and Exacerbates Experimental Lung Fibrosis.
    Title: Lack of ZNF365 Drives Senescence and Exacerbates Experimental Lung Fibrosis.
  3. 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].
  4. 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].
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Our findings suggest that RAB3GAP1 and ZNF365 are relevant candidate genes for SCD and will contribute to the mechanistic understanding of SCD susceptibility.
    Title: Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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
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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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