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

    Gene ID: 10534, updated on 4-Jul-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See ZNRD2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65570477..65571888)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65337948..65339359)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene SCY1 like pseudokinase 1 Neighboring gene latent transforming growth factor beta binding protein 3 Neighboring gene ZNRD2 divergent transcript Neighboring gene family with sequence similarity 89 member B Neighboring gene EH domain binding protein 1 like 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: FAM89B

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 

    General protein information

    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)

    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.

    mRNA and Protein(s)

    1. NM_001303024.2NP_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
      Related
      ENSP00000434381.1, ENST00000531405.5
      Conserved Domains (1) summary
      pfam06677
      Location:137
      Auto_anti-p27; Sjogren's syndrome/scleroderma autoantigen 1 (Autoantigen p27)
    2. NM_006396.3NP_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
      Related
      ENSP00000312318.3, ENST00000309328.8
      Conserved Domains (2) summary
      pfam06677
      Location:3774
      Auto_anti-p27; Sjogren's syndrome/scleroderma autoantigen 1 (Autoantigen p27)
      cl00210
      Location:295
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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