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

Gene ID: 169714, updated on 23-Nov-2021

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
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
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (136206333..136245812, complement)
105.20201022 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 uncharacterized LOC107987142 Neighboring gene transmembrane protein 250 Neighboring gene LIM homeobox 3 Neighboring gene 9q34.3 QSOX2 distal recombination region Neighboring gene coiled-coil domain containing 187 Neighboring gene uncharacterized LOC26102

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
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp762A2013

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables flavin-linked sulfhydryl oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein disulfide isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in protein folding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in integral component of Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_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
    Q6ZRP7
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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