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

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.
Title: QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.
Site-specific immobilization of the endosialidase reveals QSOX2 is a novel polysialylated protein.
Title: Site-specific immobilization of the endosialidase reveals QSOX2 is a novel polysialylated protein.
The role of cell surface proteins gene expression in diagnosis, prognosis, and drug resistance of colorectal cancer: In silico analysis and validation.
Title: The role of cell surface proteins gene expression in diagnosis, prognosis, and drug resistance of colorectal cancer: In silico analysis and validation.
Self-interaction of the transmembrane helix of QSOX2 rests on a motif of conserved amino acids compromising one face of the helix.
Title: Entrapment of Water at the Transmembrane Helix-Helix Interface of Quiescin Sulfhydryl Oxidase 2.
The present study was unable to confirm a significant association of all of the three SNPs, rs12338076 in LHX3-QSOX2, and rs1457595 and rs17032362 in IGF1, with adult height in our study population.
Title: 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.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
Results identify SOXN as a major player in Regulating the sensitization of neuroblastoma cells for IFN-gamma-induced apoptosis.
Title: 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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14818 (e-PCR)
- UniSTS:64929

D9S158 (e-PCR)
- UniSTS:7075

D9S158 (e-PCR)
- UniSTS:67805

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

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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

EC 1.8.3.2

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)

NM_181701.4 → NP_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:61 → 174

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:431 → 527

Evr1_Alr; Erv1 / Alr family