This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell gr... See more...

Aliases for NXN Gene

Aliases for NXN Gene

  • Nucleoredoxin 2 3 4 5
  • NRX 2 3 4
  • EC 4 51
  • Nucleoredoxin 1 3
  • FLJ12614 2
  • TRG-4 3
  • RRS2 3
  • NXN 5

External Ids for NXN Gene

Previous GeneCards Identifiers for NXN Gene

  • GC17M000778
  • GC17M000906
  • GC17M000656
  • GC17M000687
  • GC17M000649
  • GC17M000702
  • GC17M000613

Summaries for NXN Gene

Entrez Gene Summary for NXN Gene

  • This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]

GeneCards Summary for NXN Gene

NXN (Nucleoredoxin) is a Protein Coding gene. Diseases associated with NXN include Robinow Syndrome, Autosomal Recessive 2 and Robinow Syndrome, Autosomal Recessive 1. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and thioredoxin-disulfide reductase activity. An important paralog of this gene is NXNL2.

UniProtKB/Swiss-Prot Summary for NXN Gene

  • Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NXN Gene

Genomics for NXN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NXN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NXN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NXN

Top Transcription factor binding sites by QIAGEN in the NXN gene promoter:
  • AP-2gamma
  • ATF
  • C/EBPalpha
  • CHOP-10
  • ER-alpha
  • ISGF-3
  • MIF-1
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for NXN Gene

Genomic Locations for NXN Gene
180,467 bases
Minus strand
180,458 bases
Minus strand

Genomic View for NXN Gene

Genes around NXN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NXN Gene

Proteins for NXN Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B4DXQ0
    • D3DTH2
    • Q3SWW6
    • Q6P3U6
    • Q7L4C6
    • Q9H9Q1

    Protein attributes for NXN Gene

    435 amino acids
    Molecular mass:
    48392 Da
    Quaternary structure:
    • Associates with the phosphatase 2A holoenzyme. Interacts with PPP2CA; the interaction is direct. Interacts with DVL1 (via PDZ domain); the interaction is direct and regulated by oxidative stress (By similarity).
    • Sequence=BAB14171.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55122.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NXN Gene


neXtProt entry for NXN Gene

Selected DME Specific Peptides for NXN Gene


Post-translational modifications for NXN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NXN Gene

Gene Families for NXN Gene

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

Protein Domains for NXN Gene

  • Thioredoxin type domain

Suggested Antigen Peptide Sequences for NXN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52003, highly similar to Homo sapiens nucleoredoxin (NXN), mRNA (B4DNN6_HUMAN)
  • cDNA FLJ59782, highly similar to Homo sapiens nucleoredoxin (NXN), mRNA (B4DXQ0_HUMAN)
  • Nucleoredoxin (NXN_HUMAN)
  • NXN protein (Q7L4C6_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the nucleoredoxin family.
  • Belongs to the nucleoredoxin family.
genes like me logo Genes that share domains with NXN: view

Function for NXN Gene

Molecular function for NXN Gene

UniProtKB/Swiss-Prot Function:
Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[protein]-dithiol + NAD(+) = [protein]-disulfide + H(+) + NADH; Xref=Rhea:RHEA:18749, Rhea:RHEA-COMP:10593, Rhea:RHEA-COMP:10594, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[protein]-dithiol + NADP(+) = [protein]-disulfide + H(+) + NADPH; Xref=Rhea:RHEA:18753, Rhea:RHEA-COMP:10593, Rhea:RHEA-COMP:10594, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=;.

Enzyme Numbers (IUBMB) for NXN Gene

Phenotypes From GWAS Catalog for NXN Gene

Gene Ontology (GO) - Molecular Function for NXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004791 thioredoxin-disulfide reductase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0047134 protein-disulfide reductase activity IEA --
genes like me logo Genes that share ontologies with NXN: view
genes like me logo Genes that share phenotypes with NXN: view

Human Phenotype Ontology for NXN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NXN Gene

MGI Knock Outs for NXN:
  • Nxn Nxn<tm1b(EUCOMM)Wtsi>
  • Nxn Nxn<tm1a(EUCOMM)Wtsi>
  • Nxn Nxn<tm1Hmik>

Animal Model Products

  • Taconic Biosciences Mouse Models for NXN

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXN

No data available for Transcription Factor Targets and HOMER Transcription for NXN Gene

Localization for NXN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NXN Gene

Cytoplasm, cytosol. Nucleus.

Subcellular locations from

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 NXN gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with NXN: view

Pathways & Interactions for NXN Gene

PathCards logo

SuperPathways for NXN Gene

No Data Available

Gene Ontology (GO) - Biological Process for NXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0007275 multicellular organism development IEA --
GO:0016055 Wnt signaling pathway IMP 29276006
GO:0030154 cell differentiation IEA --
GO:0030178 negative regulation of Wnt signaling pathway IEA,ISS --
genes like me logo Genes that share ontologies with NXN: view

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

Drugs & Compounds for NXN Gene

(1) Drugs for NXN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NAD Experimental Pharma Agonist, Full agonist, Activator 0
genes like me logo Genes that share compounds with NXN: view

Transcripts for NXN Gene

mRNA/cDNA for NXN Gene

13 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXN

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

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

Relevant External Links for NXN Gene

GeneLoc Exon Structure for

Expression for NXN Gene

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

mRNA differential expression in normal tissues according to GTEx for NXN Gene

This gene is overexpressed in Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for NXN Gene

This gene is overexpressed in Cervix (7.4).

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

Protein tissue co-expression partners for NXN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NXN

SOURCE GeneReport for Unigene cluster for NXN Gene:


Evidence on tissue expression from TISSUES for NXN Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Lung(4.4)
  • Skin(3.4)
  • Muscle(2.6)
  • Intestine(2.5)
  • Eye(2.4)
  • Heart(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with NXN: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NXN Gene

Orthologs for NXN Gene

This gene was present in the common ancestor of animals.

Orthologs for NXN Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NXN 30 31
  • 99.31 (n)
(Bos Taurus)
Mammalia NXN 30 31
  • 93.79 (n)
(Canis familiaris)
Mammalia NXN 30 31
  • 93.18 (n)
(Mus musculus)
Mammalia Nxn 30 17 31
  • 91.8 (n)
(Rattus norvegicus)
Mammalia Nxn 30
  • 91.15 (n)
(Ornithorhynchus anatinus)
Mammalia NXN 31
  • 91 (a)
(Monodelphis domestica)
Mammalia NXN 31
  • 77 (a)
(Gallus gallus)
Aves NXN 30 31
  • 85.63 (n)
(Anolis carolinensis)
Reptilia NXN 31
  • 88 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nxn 30
  • 74.96 (n)
Str.10653 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12749 30
(Danio rerio)
Actinopterygii nxn 30 31
  • 73.21 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2967 30
(Caenorhabditis elegans)
Secernentea T28A11.13 31
  • 38 (a)
trx-5 31
  • 35 (a)
T20D4.7 31
  • 35 (a)
C32D5.8 31
  • 33 (a)
Y52E8A.3 31
  • 33 (a)
R05H5.3 31
  • 31 (a)
F29B9.5 31
  • 30 (a)
C35B1.5 31
  • 29 (a)
C30H6.8 31
  • 24 (a)
trx-3 31
  • 24 (a)
T05F1.11 31
  • 7 (a)
F17B5.1 31
  • 6 (a)
Species where no ortholog for NXN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 NXN Gene

Gene Tree for NXN (if available)
Gene Tree for NXN (if available)
Evolutionary constrained regions (ECRs) for NXN: view image

Paralogs for NXN Gene

Paralogs for NXN Gene

(1) SIMAP similar genes for NXN Gene using alignment to 3 proteins:

  • I3L4V6_HUMAN Pseudogenes for NXN Gene

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

Variants for NXN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NXN Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
712204 Benign: not provided 823,701(-) G/A SYNONYMOUS_VARIANT
759152 Likely Benign: not provided 822,437(-) G/A SYNONYMOUS_VARIANT
768809 Benign: not provided 803,693(-) C/T MISSENSE_VARIANT
773874 Benign: not provided 825,954(-) G/A INTRON_VARIANT
777082 Benign: not provided 825,992(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NXN Gene

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

Variant ID Type Subtype PubMed ID
dgv1398n106 CNV deletion 24896259
dgv1676e59 CNV duplication 20981092
dgv172n21 CNV gain 19592680
dgv3071n100 CNV gain 25217958
dgv3072n100 CNV gain 25217958
dgv3074n100 CNV gain 25217958
dgv3075n100 CNV loss 25217958
dgv3076n100 CNV gain 25217958
dgv3077n100 CNV gain 25217958
dgv3078n100 CNV gain 25217958
dgv3079n100 CNV gain 25217958
dgv394e201 CNV deletion 23290073
dgv395e201 CNV deletion 23290073
dgv396e201 CNV deletion 23290073
dgv5386n54 CNV gain 21841781
dgv5387n54 CNV loss 21841781
dgv5389n54 CNV gain 21841781
dgv5393n54 CNV loss 21841781
dgv5394n54 CNV loss 21841781
dgv5395n54 CNV gain+loss 21841781
dgv5396n54 CNV gain+loss 21841781
dgv5397n54 CNV gain 21841781
dgv5398n54 CNV loss 21841781
dgv5399n54 CNV gain 21841781
dgv5400n54 CNV loss 21841781
dgv5401n54 CNV loss 21841781
dgv5402n54 CNV loss 21841781
dgv5403n54 CNV loss 21841781
esv1000293 CNV deletion 20482838
esv1008136 CNV loss 20482838
esv1062480 CNV insertion 17803354
esv1098416 CNV deletion 17803354
esv1130070 CNV deletion 17803354
esv1228868 CNV deletion 17803354
esv1262780 CNV deletion 17803354
esv1296417 CNV insertion 17803354
esv1316976 CNV insertion 17803354
esv1421971 CNV insertion 17803354
esv1468501 CNV deletion 17803354
esv1608317 CNV deletion 17803354
esv1653674 CNV insertion 17803354
esv1681339 CNV deletion 17803354
esv1751565 CNV insertion 17803354
esv1758019 CNV deletion 17803354
esv1781837 CNV insertion 17803354
esv2187086 CNV deletion 18987734
esv24016 CNV loss 19812545
esv24100 CNV loss 19812545
esv2422420 CNV duplication 17116639
esv2445764 CNV deletion 19546169
esv2522999 CNV deletion 19546169
esv2551425 CNV insertion 19546169
esv26221 CNV loss 19812545
esv2652373 CNV deletion 19546169
esv2661899 CNV deletion 23128226
esv2666176 CNV deletion 23128226
esv2675441 CNV deletion 23128226
esv2675496 CNV deletion 23128226
esv27012 CNV gain+loss 19812545
esv2715364 CNV deletion 23290073
esv2715365 CNV deletion 23290073
esv2715366 CNV deletion 23290073
esv2715367 CNV deletion 23290073
esv2715368 CNV deletion 23290073
esv2715369 CNV deletion 23290073
esv2715370 CNV deletion 23290073
esv2715371 CNV deletion 23290073
esv2715372 CNV deletion 23290073
esv2715373 CNV deletion 23290073
esv2715375 CNV deletion 23290073
esv2715376 CNV deletion 23290073
esv2715377 CNV deletion 23290073
esv2715378 CNV deletion 23290073
esv2715379 CNV deletion 23290073
esv2715381 CNV deletion 23290073
esv2715383 CNV deletion 23290073
esv2715384 CNV deletion 23290073
esv2715386 CNV deletion 23290073
esv2715387 CNV deletion 23290073
esv2715388 CNV deletion 23290073
esv2715389 CNV deletion 23290073
esv2715391 CNV deletion 23290073
esv2715392 CNV deletion 23290073
esv2715393 CNV deletion 23290073
esv2715394 CNV deletion 23290073
esv2715395 CNV deletion 23290073
esv2751769 CNV gain 17911159
esv2758673 CNV gain 17122850
esv2762455 CNV gain+loss 21179565
esv29359 CNV gain+loss 19812545
esv2945866 CNV insertion 24192839
esv3171568 CNV deletion 24192839
esv3172679 CNV deletion 24192839
esv3173790 CNV deletion 24192839
esv3306604 CNV mobile element insertion 20981092
esv3359587 CNV duplication 20981092
esv3387254 CNV insertion 20981092
esv3419191 CNV duplication 20981092
esv3428547 CNV duplication 20981092
esv3444184 CNV duplication 20981092
esv35056 CNV gain 17911159
esv3553957 CNV deletion 23714750
esv3553958 CNV deletion 23714750
esv3553959 CNV deletion 23714750
esv3553961 CNV deletion 23714750
esv3572264 CNV gain 25503493
esv3572275 CNV gain 25503493
esv3582458 CNV loss 25503493
esv3582459 CNV loss 25503493
esv3582463 CNV loss 25503493
esv3582464 CNV loss 25503493
esv3582465 CNV loss 25503493
esv3639625 CNV gain 21293372
esv3639641 CNV gain 21293372
esv3639642 CNV gain 21293372
esv3639643 CNV loss 21293372
esv3639644 CNV loss 21293372
esv3639646 CNV loss 21293372
esv3639647 CNV gain 21293372
esv3639648 CNV loss 21293372
esv3639649 CNV gain 21293372
esv3639650 CNV gain 21293372
esv3639651 CNV loss 21293372
esv3639654 CNV loss 21293372
esv3639655 CNV loss 21293372
esv3639656 CNV loss 21293372
esv3639657 CNV gain 21293372
esv3639658 CNV loss 21293372
esv3639659 CNV loss 21293372
esv3639660 CNV gain 21293372
esv3639662 CNV gain 21293372
esv3639663 CNV loss 21293372
esv3639665 CNV gain 21293372
esv3732 CNV loss 18987735
esv3892943 CNV loss 25118596
esv3892944 CNV gain 25118596
esv3986 CNV loss 18987735
esv4552 CNV loss 18987735
esv990845 CNV deletion 20482838
esv997618 CNV deletion 20482838
nsv1057000 CNV gain 25217958
nsv1058033 CNV loss 25217958
nsv1058960 CNV gain 25217958
nsv1059578 CNV gain 25217958
nsv1060084 CNV gain 25217958
nsv1062294 CNV loss 25217958
nsv1064415 CNV gain 25217958
nsv1066149 CNV gain 25217958
nsv1070104 CNV deletion 25765185
nsv1070375 CNV deletion 25765185
nsv1070791 CNV deletion 25765185
nsv1077773 OTHER inversion 25765185
nsv1113838 CNV deletion 24896259
nsv1117177 CNV tandem duplication 24896259
nsv111968 CNV deletion 16902084
nsv112116 CNV insertion 16902084
nsv112140 CNV deletion 16902084
nsv112186 CNV deletion 16902084
nsv1121925 CNV deletion 24896259
nsv112227 CNV deletion 16902084
nsv112448 CNV deletion 16902084
nsv112506 CNV deletion 16902084
nsv1125629 CNV tandem duplication 24896259
nsv1127528 CNV deletion 24896259
nsv1131126 CNV deletion 24896259
nsv1134583 CNV deletion 24896259
nsv1134584 CNV deletion 24896259
nsv1141757 CNV deletion 24896259
nsv1151421 CNV deletion 26484159
nsv457631 CNV gain 19166990
nsv457633 CNV loss 19166990
nsv469582 CNV loss 16826518
nsv469891 CNV loss 16826518
nsv509643 CNV insertion 20534489
nsv512463 CNV loss 21212237
nsv517783 CNV gain 19592680
nsv521627 CNV gain 19592680
nsv574092 CNV loss 21841781
nsv574095 CNV loss 21841781
nsv574096 CNV loss 21841781
nsv574097 CNV gain 21841781
nsv574098 CNV loss 21841781
nsv574099 CNV loss 21841781
nsv574100 CNV loss 21841781
nsv574101 CNV loss 21841781
nsv574104 CNV gain+loss 21841781
nsv574112 CNV loss 21841781
nsv574131 CNV gain+loss 21841781
nsv574142 CNV gain 21841781
nsv817749 CNV gain 17921354
nsv820321 CNV deletion 20802225
nsv827852 CNV gain 20364138
nsv9486 CNV loss 18304495
nsv952094 CNV deletion 24416366
nsv954550 CNV deletion 24416366
nsv954588 CNV deletion 24416366
nsv955430 CNV deletion 24416366

Variation tolerance for NXN Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NXN Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for NXN Gene

MalaCards: The human disease database

(13) MalaCards diseases for NXN Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NXN in MalaCards View complete list of genes associated with diseases


  • Robinow syndrome, autosomal recessive 2 (RRS2) [MIM:618529]: A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. {ECO:0000269 PubMed:29276006}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NXN

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NXN: view

No data available for Genatlas for NXN Gene

Publications for NXN Gene

  1. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. (PMID: 29276006) White JJ … Carvalho CMB (American journal of human genetics 2018) 3 4
  2. Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PMID: 19308021) Ollila HM … Paunio T (Molecular psychiatry 2009) 3 41
  3. Interaction of nucleoredoxin with protein phosphatase 2A. (PMID: 16764867) Lechward K … Zolnierowicz S (FEBS letters 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Histone-binding of DPF2 mediates its repressive role in myeloid differentiation. (PMID: 28533407) Huber FM … Hoelz A (Proceedings of the National Academy of Sciences of the United States of America 2017) 3

Products for NXN Gene

  • Signalway ELISA kits for NXN

Sources for NXN Gene