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

Gene ID: 10534, updated on 7-Apr-2024

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; 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
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Genomic context

Location:
11q13.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65570477..65571888)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65564709..65566120)
105.20220307 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

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

Phenotypes

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

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

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)

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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_001303024.2NP_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, H0YEB6
    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
    UniProtKB/TrEMBL
    H0YEB6
    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: 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_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)