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    ZNRD2 zinc ribbon domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 10534, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNRD2provided by HGNC
    Official Full Name
    zinc ribbon domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:11328
    See related
    Ensembl:ENSG00000173465 MIM:606044; AllianceGenome:HGNC:11328
    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
    p27; SSSCA1
    Summary
    This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 11.4), bone marrow (RPKM 10.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNRD2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65570477..65571888)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65564709..65566120)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65337948..65339359)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene latent transforming growth factor beta binding protein 3 Neighboring gene uncharacterized LOC124902823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65319617-65320292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65320293-65320968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65328600-65329263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4989 Neighboring gene ZNRD2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3543 Neighboring gene family with sequence similarity 89 member B Neighboring gene Sharpr-MPRA regulatory region 14514 Neighboring gene EH domain binding protein 1 like 1 Neighboring gene uncharacterized LOC124902692

    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. Sjögren syndrome/scleroderma autoantigen 1 is a direct Tankyrase binding partner in cancer cells. Perdreau-Dahl H, et al. Commun Biol, 2020 Mar 13. PMID 32170109, Free PMC Article
    2. Subcellular localization of p27 and prostate cancer recurrence: automated digital microscopy analysis of tissue microarrays. Ananthanarayanan V, et al. Hum Pathol, 2011 Jun. PMID 21292307, Free PMC Article
    3. Expression of CRM1 in human gliomas and its significance in p27 expression and clinical prognosis. Shen A, et al. Neurosurgery, 2009 Jul. PMID 19574837
    4. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Springelkamp H, et al. Nat Commun, 2014 Sep 22. PMID 25241763, Free PMC Article
    5. Interaction proteomics identify NEURL4 and the HECT E3 ligase HERC2 as novel modulators of centrosome architecture. Al-Hakim AK, et al. Mol Cell Proteomics, 2012 Jun. PMID 22261722, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our method identified a strong relationship between p27 expression and prostate cancer recurrence.
      Title: Subcellular localization of p27 and prostate cancer recurrence: automated digital microscopy analysis of tissue microarrays.
    2. The current results showed that p27 expression were associated with glioma grade.
      Title: Expression of CRM1 in human gliomas and its significance in p27 expression and clinical prognosis.
    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
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with Sjogren syndrome/scleroderma autoantigen 1 (SSSCA1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: FAM89B

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein 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 cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein ZNRD2
    Names
    Sjogren syndrome/scleroderma autoantigen 1
    Sjogren's syndrome/scleroderma autoantigen 1
    autoantigen p27
    centromeric autoantigen (27kD)
    sjoegren syndrome/scleroderma autoantigen 1
    zinc ribbon domain-containing protein 2

    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_001303024.2 → NP_001289953.1  protein ZNRD2 isoform 2

      See identical proteins and their annotated locations for NP_001289953.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      BP351453, DR759640
      Consensus CDS
      CCDS76434.1
      UniProtKB/TrEMBL
      G3V1B8, H0YEB6
      Related
      ENSP00000434381.1, ENST00000531405.5
      Conserved Domains (1) summary
      pfam06677
      Location:1 → 37
      Auto_anti-p27; Sjogren's syndrome/scleroderma autoantigen 1 (Autoantigen p27)

    2. NM_006396.3 → NP_006387.1  protein ZNRD2 isoform 1

      See identical proteins and their annotated locations for NP_006387.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC014791, DR759640
      Consensus CDS
      CCDS8104.1
      UniProtKB/Swiss-Prot
      O60232
      UniProtKB/TrEMBL
      H0YEB6
      Related
      ENSP00000312318.3, ENST00000309328.8
      Conserved Domains (2) summary
      pfam06677
      Location:37 → 74
      Auto_anti-p27; Sjogren's syndrome/scleroderma autoantigen 1 (Autoantigen p27)
      cl00210
      Location:2 → 95
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65570477..65571888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65564709..65566120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60232.1 GenPept UniProtKB/Swiss-Prot:O60232

    Gene LinkOut

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

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