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Aliases for QSOX2 Gene

Aliases for QSOX2 Gene

  • Quiescin Sulfhydryl Oxidase 2 2 3 5
  • Neuroblastoma-Derived Sulfhydryl Oxidase 3 4
  • Quiescin Q6 Sulfhydryl Oxidase 2 2 3
  • Quiescin Q6-Like Protein 1 3 4
  • Quiescin Q6-Like 1 2 3
  • Thiol Oxidase 2 2 3
  • QSCN6L1 3 4
  • SOXN 3 4
  • Sulfhydryl Oxidase 2 3
  • EC 1.8.3.2 4

External Ids for QSOX2 Gene

Previous HGNC Symbols for QSOX2 Gene

  • QSCN6L1

Previous GeneCards Identifiers for QSOX2 Gene

  • GC09M138239
  • GC09M137879
  • GC09M139098
  • GC09M108562

Summaries for QSOX2 Gene

Entrez Gene Summary for QSOX2 Gene

  • 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]

GeneCards Summary for QSOX2 Gene

QSOX2 (Quiescin Sulfhydryl Oxidase 2) is a Protein Coding gene. Diseases associated with QSOX2 include Neuroblastoma and Deafness, Autosomal Recessive 79. GO annotations related to this gene include thiol oxidase activity. An important paralog of this gene is QSOX1.

UniProtKB/Swiss-Prot for QSOX2 Gene

  • Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. Also seems to play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis.

Additional gene information for QSOX2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for QSOX2 Gene

Genomics for QSOX2 Gene

Regulatory Elements for QSOX2 Gene

Enhancers for QSOX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H136563 2.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 19.6 -322.7 -322702 10 HDGF FOXA2 MLX ARID4B SIN3A YBX1 ZBTB7B SLC30A9 ZNF143 FOS EXD3 ANAPC2 SNHG7 INPP5E SDCCAG3 QSOX2 SEC16A NOTCH1 SNAPC4 MAN1B1
GH09H136242 1.6 FANTOM5 ENCODE dbSUPER 24 +1.4 1357 3 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 GLIS2 ATF7 RUNX3 QSOX2 ANAPC2 SNHG7 SDCCAG3 INPP5E MAN1B1 SEC16A PIR36610 GC09M136222
GH09H136725 1.2 ENCODE 19.8 -481.6 -481607 4 HNRNPUL1 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SNHG7 DPH7 INPP5E ANAPC2 EXD3 EHMT1 LCN8 MAN1B1 NPDC1 QSOX2
GH09H136227 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.8 +17.5 17467 1 L3MBTL2 BHLHE40 ATF2 FOSL1 JUND CREB1 FOS FOSL2 QSOX2 PMPCA SDCCAG3 NOTCH1 PIR36610 GC09M136222
GH09H136237 1.2 ENCODE dbSUPER 18.4 +7.5 7534 1 HDAC1 PTBP1 TBL1XR1 TCF12 ZNF766 GATA2 ATF7 CREM ZBTB2 ZBTB11 QSOX2 PIR36610 GC09M136222
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around QSOX2 on UCSC Golden Path with GeneCards custom track

Promoters for QSOX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000242992 141 1400 ARNT SIN3A DMAP1 YY1 ZNF766 GLIS2 ATF7 SP5 MXD4 REST

Genomic Location for QSOX2 Gene

Chromosome:
9
Start:
136,206,333 bp from pter
End:
136,245,841 bp from pter
Size:
39,509 bases
Orientation:
Minus strand

Genomic View for QSOX2 Gene

Genes around QSOX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
QSOX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for QSOX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for QSOX2 Gene

Proteins for QSOX2 Gene

  • Protein details for QSOX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZRP7-QSOX2_HUMAN
    Recommended name:
    Sulfhydryl oxidase 2
    Protein Accession:
    Q6ZRP7
    Secondary Accessions:
    • A2CEE0
    • A6NLB0
    • Q5TB37
    • Q7Z7B6
    • Q86VV7
    • Q8N3G2

    Protein attributes for QSOX2 Gene

    Size:
    698 amino acids
    Molecular mass:
    77529 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC87262.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC85331.1; Type=Frameshift; Positions=354, 369, 616, 618; Evidence={ECO:0000305};

neXtProt entry for QSOX2 Gene

Post-translational modifications for QSOX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for QSOX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for QSOX2 Gene

Domains & Families for QSOX2 Gene

Gene Families for QSOX2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for QSOX2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZRP7

UniProtKB/Swiss-Prot:

QSOX2_HUMAN :
  • Belongs to the quiescin-sulfhydryl oxidase (QSOX) family.
Family:
  • Belongs to the quiescin-sulfhydryl oxidase (QSOX) family.
genes like me logo Genes that share domains with QSOX2: view

Function for QSOX2 Gene

Molecular function for QSOX2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
2 RC(R)SH + O(2) = RC(R)S-S(R)CR + H(2)O(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. Also seems to play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis.

Enzyme Numbers (IUBMB) for QSOX2 Gene

Phenotypes From GWAS Catalog for QSOX2 Gene

Gene Ontology (GO) - Molecular Function for QSOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IBA --
GO:0016491 oxidoreductase activity IEA --
GO:0016971 flavin-linked sulfhydryl oxidase activity IBA --
GO:0016972 thiol oxidase activity IEA --
genes like me logo Genes that share ontologies with QSOX2: view

Phenotypes for QSOX2 Gene

genes like me logo Genes that share phenotypes with QSOX2: view

Animal Model Products

CRISPR Products

miRNA for QSOX2 Gene

miRTarBase miRNAs that target QSOX2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for QSOX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for QSOX2 Gene

Localization for QSOX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for QSOX2 Gene

Membrane; Single-pass membrane protein. Secreted. Cell membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein. Note=Seems to be predominantly targeted to the nuclear and outer plasma membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for QSOX2 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
plasma membrane 4
extracellular 4
endoplasmic reticulum 2
mitochondrion 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for QSOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with QSOX2: view

Pathways & Interactions for QSOX2 Gene

SuperPathways for QSOX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for QSOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045454 cell redox homeostasis IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with QSOX2: view

No data available for Pathways by source and SIGNOR curated interactions for QSOX2 Gene

Drugs & Compounds for QSOX2 Gene

(4) Drugs for QSOX2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Hydrogen peroxide Approved, Vet_approved Pharma 68
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0

(3) Additional Compounds for QSOX2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with QSOX2: view

Transcripts for QSOX2 Gene

mRNA/cDNA for QSOX2 Gene

Unigene Clusters for QSOX2 Gene

Quiescin Q6 sulfhydryl oxidase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for QSOX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for QSOX2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - - - -
SP2: - - -
SP3: - -
SP4:
SP5: - - - -

Relevant External Links for QSOX2 Gene

GeneLoc Exon Structure for
QSOX2
ECgene alternative splicing isoforms for
QSOX2

Expression for QSOX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for QSOX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for QSOX2 Gene

This gene is overexpressed in Breast (26.7), Adipocyte (17.2), Bone (7.9), and Serum (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for QSOX2 Gene



NURSA nuclear receptor signaling pathways regulating expression of QSOX2 Gene:

QSOX2

SOURCE GeneReport for Unigene cluster for QSOX2 Gene:

Hs.144073

mRNA Expression by UniProt/SwissProt for QSOX2 Gene:

Q6ZRP7-QSOX2_HUMAN
Tissue specificity: Expressed in pancreas, brain, placenta, kidney, heart and fetal tissues. Weakly expressed in lung, liver and skeletal muscles.

Evidence on tissue expression from TISSUES for QSOX2 Gene

  • Liver(4.1)
genes like me logo Genes that share expression patterns with QSOX2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for QSOX2 Gene

Orthologs for QSOX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for QSOX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia QSOX2 33 34
  • 99.31 (n)
mouse
(Mus musculus)
Mammalia Qsox2 33 16 34
  • 82.73 (n)
dog
(Canis familiaris)
Mammalia QSOX2 33 34
  • 81.7 (n)
rat
(Rattus norvegicus)
Mammalia Qsox2 33
  • 80.88 (n)
cow
(Bos Taurus)
Mammalia QSOX2 33 34
  • 80.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia QSOX2 34
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia QSOX2 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves QSOX2 33 34
  • 67.44 (n)
lizard
(Anolis carolinensis)
Reptilia QSOX2 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia qsox2 33
  • 64.46 (n)
Str.11376 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7691 33
zebrafish
(Danio rerio)
Actinopterygii LOC559603 33
  • 60.41 (n)
QSOX2 34
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17843 33 34
  • 45.44 (n)
CG4670 34
  • 26 (a)
ManyToMany
CG31413 34
  • 25 (a)
ManyToMany
CG6690 34
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T10H10.2 34
  • 26 (a)
ManyToMany
F47B7.2 34
  • 22 (a)
ManyToMany
F35G2.1 34
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
OneToMany
Species where no ortholog for QSOX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for QSOX2 Gene

ENSEMBL:
Gene Tree for QSOX2 (if available)
TreeFam:
Gene Tree for QSOX2 (if available)

Paralogs for QSOX2 Gene

Paralogs for QSOX2 Gene

(2) SIMAP similar genes for QSOX2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with QSOX2: view

Variants for QSOX2 Gene

Sequence variations from dbSNP and Humsavar for QSOX2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000105364 -- 136,230,584(+) ACGTC(A/G)GGCCA intron-variant
rs1000139386 -- 136,221,507(+) CCCTC(A/G)TGCAT intron-variant
rs1000281055 -- 136,234,939(+) TTTAC(C/T)GGGCT intron-variant
rs1000314340 -- 136,215,775(+) GCTGA(C/G)AGCCC intron-variant
rs1000345269 -- 136,215,455(+) TGTGC(C/T)TCCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for QSOX2 Gene

Variant ID Type Subtype PubMed ID
dgv13001n54 CNV gain 21841781
esv1030583 CNV insertion 17803354
esv1053090 CNV insertion 17803354
esv2739342 CNV deletion 23290073
esv2739343 CNV deletion 23290073
esv2739344 CNV deletion 23290073
esv3622002 CNV loss 21293372
esv3622003 CNV gain 21293372
esv3622004 CNV loss 21293372
esv993665 CNV insertion 20482838
nsv1040564 CNV gain 25217958
nsv1046074 CNV gain 25217958
nsv1075284 CNV deletion 25765185
nsv1133750 CNV deletion 24896259
nsv416548 CNV insertion 16902084
nsv473737 CNV novel sequence insertion 20440878
nsv473948 CNV novel sequence insertion 20440878
nsv473978 CNV novel sequence insertion 20440878
nsv474106 CNV novel sequence insertion 20440878
nsv474715 CNV novel sequence insertion 20440878
nsv474839 CNV novel sequence insertion 20440878
nsv474964 CNV novel sequence insertion 20440878
nsv475572 CNV novel sequence insertion 20440878
nsv479171 CNV novel sequence insertion 20440878
nsv479172 CNV novel sequence insertion 20440878
nsv479190 CNV novel sequence insertion 20440878
nsv479445 CNV novel sequence insertion 20440878
nsv479481 CNV novel sequence insertion 20440878
nsv480222 CNV novel sequence insertion 20440878
nsv480660 CNV novel sequence insertion 20440878
nsv480676 CNV novel sequence insertion 20440878
nsv481200 CNV novel sequence insertion 20440878
nsv513002 CNV insertion 21212237
nsv825173 CNV gain 20364138
nsv951202 CNV deletion 24416366

Variation tolerance for QSOX2 Gene

Residual Variation Intolerance Score: 13.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for QSOX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
QSOX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for QSOX2 Gene

Disorders for QSOX2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for QSOX2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
deafness, autosomal recessive 79
  • autosomal recessive nonsyndromic deafness 79
deafness, autosomal recessive 33
  • autosomal recessive nonsyndromic deafness 33
- elite association - COSMIC cancer census association via MalaCards
Search QSOX2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for QSOX2

Genetic Association Database (GAD)
QSOX2
Human Genome Epidemiology (HuGE) Navigator
QSOX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
QSOX2
genes like me logo Genes that share disorders with QSOX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for QSOX2 Gene

Publications for QSOX2 Gene

  1. Neuroblastoma-derived sulfhydryl oxidase, a new member of the sulfhydryl oxidase/Quiescin6 family, regulates sensitization to interferon gamma-induced cell death in human neuroblastoma cells. (PMID: 14633699) Wittke I … Schwab M (Cancer research 2003) 3 4 22 60
  2. Sulfhydryl oxidases: emerging catalysts of protein disulfide bond formation in eukaryotes. (PMID: 12176051) Thorpe C … Coppock DL (Archives of biochemistry and biophysics 2002) 2 3 22 60
  3. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PMID: 20189936) Okada Y … Kamatani N (Human molecular genetics 2010) 3 45 60
  4. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for QSOX2 Gene

Sources for QSOX2 Gene

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