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    QSOX2 quiescin sulfhydryl oxidase 2 [ Homo sapiens (human) ]

    Gene ID: 169714, updated on 9-Dec-2024

    Summary

    Official Symbol
    QSOX2provided by HGNC
    Official Full Name
    quiescin sulfhydryl oxidase 2provided by HGNC
    Primary source
    HGNC:HGNC:30249
    See related
    Ensembl:ENSG00000165661 MIM:612860; AllianceGenome:HGNC:30249
    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
    SOXN; QSCN6L1
    Summary
    QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009]
    Expression
    Ubiquitous expression in lymph node (RPKM 8.6), spleen (RPKM 7.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See QSOX2 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136206333..136245812, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148435876..148475457, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139098179..139137658, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139009243-139009818 Neighboring gene uncharacterized LOC107987142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139010972-139011548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139011549-139012123 Neighboring gene transmembrane protein 250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139027429-139027969 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:139037051-139037363 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139038646-139039577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139044229-139044797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139048359-139048859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139060941-139061592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139061593-139062243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139067483-139068316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139079110-139079610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139082169-139083115 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139083116-139084061 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139089541-139090232 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139090233-139090922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139100281-139100832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139100833-139101382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139103280-139104056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139107853-139108356 Neighboring gene LIM homeobox 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29302 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:139119971-139121170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139131059-139131587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139139693-139140547 Neighboring gene 9q34.3 QSOX2 distal recombination region Neighboring gene coiled-coil domain containing 187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20505 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:139159307-139159682 Neighboring gene uncharacterized LOC124902308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20507 Neighboring gene uncharacterized LOC26102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139218370-139218998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139218999-139219627 Neighboring gene Sharpr-MPRA regulatory region 1004

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp762A2013

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables flavin-dependent sulfhydryl oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein disulfide isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sulfhydryl oxidase 2
    Names
    neuroblastoma-derived sulfhydryl oxidase
    quiescin Q6 sulfhydryl oxidase 2
    quiescin Q6-like 1
    quiescin Q6-like protein 1
    thiol oxidase 2
    NP_859052.3

    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_181701.4NP_859052.3  sulfhydryl oxidase 2 precursor

      See identical proteins and their annotated locations for NP_859052.3

      Status: VALIDATED

      Source sequence(s)
      AL138781, CR392000
      Consensus CDS
      CCDS35178.1
      UniProtKB/Swiss-Prot
      A2CEE0, A6NLB0, Q5TB37, Q6ZRP7, Q7Z7B6, Q86VV7, Q8N3G2
      Related
      ENSP00000351536.5, ENST00000358701.10
      Conserved Domains (2) summary
      cd02992
      Location:61174
      PDI_a_QSOX; PDIa family, Quiescin-sulfhydryl oxidase (QSOX) subfamily; QSOX is a eukaryotic protein containing an N-terminal redox active TRX domain, similar to that of PDI, and a small C-terminal flavin adenine dinucleotide (FAD)-binding domain homologous to the ...
      pfam04777
      Location:431527
      Evr1_Alr; Erv1 / Alr family

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      136206333..136245812 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      148435876..148475457 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)