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QSOX2 Gene

protein-coding GIFtS: 53
GCID: GC09M139098

Quiescin Q6 Sulfhydryl Oxidase 2

(Previous name: quiescin Q6-like 1)
(Previous symbol: QSCN6L1)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Quiescin Q6 Sulfhydryl Oxidase 2¹ ²		Neuroblastoma-Derived Sulfhydryl Oxidase² ³
QSCN6L1¹ ² ³		Quiescin Q6-Like Protein 1² ³
SOXN² ³ ⁵		Sulfhydryl Oxidase 2²
Quiescin Q6-Like 1¹ ²		EC 1.8.3.2³

External Ids:	HGNC: 30249¹	Entrez Gene: 169714²	Ensembl: ENSG00000165661⁷	OMIM: 612860⁵	UniProtKB: Q6ZRP7³

Export aliases for QSOX2 gene to outside databases

Previous GC identifers: GC09M138239 GC09M137879 GC09M108562

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 Q6 sulfhydryl oxidase 2) is a protein-coding gene. Diseases associated with QSOX2 include neuroblastoma, and skin disease. GO annotations related to this gene include thiol oxidase activity. An important paralog of this gene is QSOX1.

UniProtKB/Swiss-Prot: QSOX2_HUMAN, Q6ZRP7

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000009.12 NC_018920.2 NT_008470.20

Regulatory elements:

Regulatory transcription factor binding sites in the QSOX2 gene promoter:
SRF USF1 NF-1 Sp1 p53 SRF (504 AA) AP-4 CUTL1 HNF-4alpha1 USF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: QSOX2 promoter sequence

Search Chromatin IP Primers for QSOX2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat QSOX2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3 Ensembl cytogenetic band: 9q34.3 HGNC cytogenetic band: 9q34.3

QSOX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
QSOX2 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M139098: view genomic region (about GC identifiers)

Start:	139,098,179 bp from pter	End:	139,137,687 bp from pter
Size:	39,509 bases	Orientation:	minus strand

1 alternative location:

Chr9-,NW_003315926 433-798

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: QSOX2_HUMAN, Q6ZRP7 (See protein sequence)

Recommended Name: Sulfhydryl oxidase 2 precursor

Size: 698 amino acids; 77529 Da

Cofactor: Binds 1 FAD per subunit (Potential)

Sequence caution: Sequence=BAC87262.1; Type=Erroneous initiation; Sequence=CAC85331.1; Type=Frameshift;

Positions=354, 369, 616, 618;

Secondary accessions: A2CEE0 A6NLB0 Q5TB37 Q7Z7B6 Q86VV7 Q8N3G2

Explore the universe of human proteins at neXtProt for QSOX2: NX_Q6ZRP7

Explore proteomics data for QSOX2 at MOPED

Post-translational modifications:

Glycosylation² at Asn77, Thr149, Thr153, Thr154, Asn178, Asn218, Asn266, Ser635

Modification sites at PhosphoSitePlus

See QSOX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_859052.3

ENSEMBL proteins:

ENSP00000351536 ENSP00000389089

QSOX2 Human Recombinant Protein Products:

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QSOX2 Assay Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:

IPR017905 ERV/ALR_sulphydryl_oxidase

IPR012336 Thioredoxin-like_fold

IPR013766 Thioredoxin_domain

Graphical View of Domain Structure for InterPro Entry Q6ZRP7

ProtoNet protein and cluster: Q6ZRP7

2 Blocks protein domains:

IPB006662 Thioredoxin type domain

IPB006863 Erv1/Alr

UniProtKB/Swiss-Prot: QSOX2_HUMAN, Q6ZRP7

Similarity: Belongs to the quiescin-sulfhydryl oxidase (QSOX) family

Similarity: Contains 1 ERV/ALR sulfhydryl oxidase domain

Similarity: Contains 1 thioredoxin domain

QSOX2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: QSOX2_HUMAN, Q6ZRP7

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

Catalytic activity: 2 R'C(R)SH + O(2) = R'C(R)S-S(R)CR' + H(2)O(2)

Enzyme Number (IUBMB): EC 1.8.3.2¹

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016972	thiol oxidase activity	IEA	--

QSOX2 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for QSOX2

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for QSOX2

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for QSOX2

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for QSOX2

miRNA Products:		miRTarBase miRNAs that target QSOX2: hsa-mir-340-5p (MIRT019576), hsa-mir-16-5p (MIRT031819), hsa-mir-92a-3p (MIRT049168), hsa-mir-17-3p (MIRT050770), hsa-mir-125b-5p (MIRT004986)

		Block miRNA regulation of human, mouse, rat QSOX2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate QSOX2 (see all 18):
		hsa-miR-320a hsa-miR-607 hsa-miR-125a-5p hsa-miR-605 hsa-miR-500a hsa-miR-105 hsa-miR-125b hsa-miR-103a-2*

		SwitchGear 3'UTR luciferase reporter plasmid: QSOX2 3' UTR sequence

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Gene Editing
Products:

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Clone Products:		OriGene clones in human, mouse for QSOX2 (see all 6) OriGene ORF clones in mouse, rat for QSOX2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for QSOX2
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for QSOX2

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

QSOX2_HUMAN, Q6ZRP7: Membrane; Single-pass membrane protein. Secreted. Cell membrane; Single-pass membrane

protein (Potential). Nucleus membrane; Single-pass membrane protein (Potential). Note=Seems to be predominantly

targeted to the nuclear and outer plasma membrane

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
extracellular	5
nucleus	5
plasma membrane	5
endoplasmic reticulum	2
cytosol	1
golgi apparatus	1
lysosome	1
mitochondrion	1

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral component of membrane	IEA	--
GO:0031965	nuclear membrane	IEA	--

QSOX2 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for QSOX2
Interactions:

Search GeneGlobe Interaction Network for QSOX2

3 Interacting proteins for QSOX2 (Q6ZRP7³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATG2A	Q2TAZ0³	I2D: score=1
CAMKK2	Q96RR4³	I2D: score=1
CLN3	Q13286³	I2D: score=1

About this table

Gene Ontology (GO): 2 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0045454	cell redox homeostasis	IEA	--
GO:0055114	oxidation-reduction process	--	--

QSOX2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for QSOX2

3 HMDB Compounds for QSOX2 About this table

Compound	Synonyms	CAS #	PubMed Ids
FAD	1H-Purin-6-amine flavin dinucleotide (see all 21)	146-14-5	--
Oxygen	Oxygen (see all 5)	7782-44-7	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

3 Novoseek inferred chemical compound relationships for QSOX2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
flavin	66.1	2	19397338 (1), 15683237 (1)
dithiothreitol	65.3	2	15568811 (1), 19409596 (1)
h2o2	46.9	1	12202243 (1)

QSOX2 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for QSOX2 gene:

NM_181701.3

Unigene Cluster for QSOX2:

Quiescin Q6 sulfhydryl oxidase 2

Hs.144073 [show with all ESTs]

Unigene Representative Sequence: AJ318051

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000358701(uc010nbi.2) ENST00000455222

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		Block miRNA regulation of human, mouse, rat QSOX2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate QSOX2 (see all 18):
		hsa-miR-320a hsa-miR-607 hsa-miR-125a-5p hsa-miR-605 hsa-miR-500a hsa-miR-105 hsa-miR-125b hsa-miR-103a-2*

		SwitchGear 3'UTR luciferase reporter plasmid: QSOX2 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for QSOX2
		Predesigned siRNA for gene silencing in human, mouse, rat QSOX2

Clone Products:		OriGene clones in human, mouse for QSOX2 (see all 6) OriGene ORF clones in mouse, rat for QSOX2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: QSOX2 (NM_181701)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for QSOX2
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat QSOX2

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for QSOX2
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat QSOX2
		QuantiTect SYBR Green Assays in human, mouse, rat QSOX2
		QuantiFast Probe-based Assays in human, mouse, rat QSOX2

Additional mRNA sequence:

AJ318051.1 AJ420461.1 AK128077.1 AK128750.1 AL834369.1 BC047604.2

6 DOTS entries:

DT.110458 DT.97836908 DT.97775695 DT.40213602 DT.75100956 DT.121194112

Selected AceView cDNA sequences (see all 91):

BE349598 BI492379 BQ187181 AA493143 AI028313 CR601649 AI280985 AI304528

AA514465 AI753180 AI309245 H08428 AI742021 BE875636 BQ894531 BM555560

AK128750 BU624354 CD368724 AW970153 AA834579 BQ218767 AI689944 BE783824

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for QSOX2 About this scheme

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

ECgene alternative splicing isoforms for QSOX2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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QSOX2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GAAATGTCAG

About this image

QSOX2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 6) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Pancreas (Endocrine System)
Islets of Langerhans

Testis (Reproductive System)
Leydig Cells Testis Interstitium

QSOX2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

QSOX2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.144073

UniProtKB/Swiss-Prot: QSOX2_HUMAN, Q6ZRP7

Tissue specificity: Expressed in pancreas, brain, placenta, kidney, heart and fetal tissues. Weakly expressed in

lung, liver and skeletal muscles

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for QSOX2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for QSOX2 gene from Selected species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Qsox2^{1 , 5}	quiescin Q6 sulfhydryl oxidase 2^{1, 5}	82.73(n)¹ 83.75(a)¹		2 (18.45 cM)⁵ 227638¹ NM_153559.2¹ NP_705787.1¹ 26208637⁵
chicken (Gallus gallus)	Aves	QSOX2¹	quiescin Q6 sulfhydryl oxidase 2	67.44(n) 67.19(a)		417129 XM_415413.3 XP_415413.2
lizard (Anolis carolinensis)	Reptilia	QSOX2⁶	quiescin Q6 sulfhydryl oxidase 2	58(a)	1 ↔ 1	GL344237.1(39845-53936)
African clawed frog (Xenopus laevis)	Amphibia	Xl.7691²	Xenopus laevis transcribed sequence with weak similarity more	73.84(n)		BJ073005.1
zebrafish (Danio rerio)	Actinopterygii	LOC559603¹	sulfhydryl oxidase 2-like	60.41(n) 58.2(a)		559603 XM_682961.6 XP_688053.6
fruit fly (Drosophila melanogaster)	Insecta	CG17843¹	CG17843	45.44(n) 33.61(a)		42583 NM_142741.3 NP_650998.1
worm (Caenorhabditis elegans)	Secernentea	T10H10.2⁶ F47B7.2⁶ (see all 3)	Protein T10H10.2 (T10H10.2) mRNA, complete cds Protein F47B7.2, isoform a (F47B7.2) mRNA, complet... (see all 3)	26(a) 22(a) (see all 3)	many ↔ many many ↔ many (see all 3)	X(2294750-2298194) WBGene00020426 X(3772763-3778081) WBGene00018533

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for QSOX2 gene

QSOX1²

2 SIMAP similar genes for QSOX2 using alignment to 2 protein entries: QSOX2_HUMAN (see all proteins):

QSCN6 QSOX1

QSOX2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs143392932^1,2	C	--	139098961(+)	`ACACCA/GCTCCC`	1	--	ut3¹		0	--	--	--	--
rs3780190^1,2	C,F,A,H	--	139099073(+)	`AAGCGA/GCAACA`	1	--	ut3¹		26		NS EA NA CSA WA	2766
rs148384572^1,2	C	--	139099127(+)	`CAACTC/TGTTAG`	1	--	ut3¹		0	--	--	--	--
rs142130253^1,2		--	139099169(+)	`AAAGCA/GGAAAA`	1	--	ut3¹		0	--	--	--	--
rs183438369^1,2		--	139099188(+)	`CAACCA/GTCAAA`	1	--	ut3¹		0	--	--	--	--
rs146198713^1,2	C	--	139099211(+)	`CTCAT-/ACAC ACACA`	1	--	ut3¹		0	--	--	--	--
rs60517775^1,2	C	--	139099245(+)	`CACAC-/ACAC GGGCA`	1	--	ut3¹		1		NA	2
rs185820544^1,2		--	139099267(+)	`CATCTA/GAGCCT`	1	--	ut3¹		0	--	--	--	--
rs146353611^1,2		--	139099300(+)	`CCTGTC/GAGACA`	1	--	ut3¹		0	--	--	--	--
rs190622150^1,2		--	139099383(+)	`GGCAAC/TGGACC`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for QSOX2 (139098179 - 139137687 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for QSOX2 (see all 22): About this table

Variant ID	Type	Subtype	PubMed ID
esv2739342	CNV	Deletion	23290073
esv2739343	CNV	Deletion	23290073
esv2739344	CNV	Deletion	23290073
esv1030583	CNV	Insertion	17803354
esv1053090	CNV	Insertion	17803354
esv993665	CNV	Insertion	20482838
nsv513002	CNV	Insertion	21212237
nsv416548	CNV	Insertion	16902084
dgv8388n71	CNV	Loss	21882294
nsv894322	CNV	Loss	21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 612860 OMIM disorders: --

7 diseases for QSOX2:
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neuroblastoma skin disease infertility tonsillitis

thyroiditis cerebritis prostatitis

QSOX2 for disorders About GeneDecksing

Genetic Association Database (GAD): QSOX2
Human Genome Epidemiology (HuGE) Navigator: QSOX2 (1 document)

Export disorders for QSOX2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for QSOX2 gene, integrated from 10 sources (see all 49):
(articles sorted by number of sources associating them with QSOX2)

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Neuroblastoma-derived sulfhydryl oxidase, a new member of the sulfhydryl oxidase/quiescin 6 family, regulates sensitization to interferon gamma-induced cell death in human neuroblastoma cells. (PubMed id 14633699)^{1, 2, 9} Wittke I....Schwab M. (Cancer Res. 2003)
Sulfhydryl oxidases: emerging catalysts of protein disulfide bond formation in eukaryotes. (PubMed id 12176051)^{1, 3, 9} Thorpe C....Coppock D.L. (Arch. Biochem. Biophys. 2002)
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)^{1, 4} Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)^{1, 4} Lango Allen H....Hirschhorn J.N. (Nature 2010)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (Nature 2004)
The P-body component USP52/PAN2 is a novel regulator of HIF1A mRNA stability. (PubMed id 23398456)¹ Bett J.S....Hay R.T. (Biochem. J. 2013)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (Cell 2012)
Replication study of the association of SNPs in the LHX3-QSOX2 and IGF1 loci with adult height in the Japanese population; wide-ranging comparison of each SNP genotype distribution. (PubMed id 22503243)¹ Fujihara J....Yasuda T. (Leg Med (Tokyo) 2012)
MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PubMed id 22678362)¹ Stehling O.... Lill R. (Science 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 169714	HGNC: 30249	AceView: QSCN6L1	Ensembl:ENSG00000165661	euGenes: HUgn169714
ECgene: QSOX2	H-InvDB: QSOX2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for QSOX2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for QSOX2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for QSOX2 gene:
Search GeneIP for patents involving QSOX2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Quiescin Q6 Sulfhydryl Oxidase 2

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Quiescin Q6 Sulfhydryl Oxidase 2

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