CleftGeneDB-Search

Gene: NXN

Basic information

Tag	Content
Uniprot ID	Q6DKJ4; B4DXQ0; D3DTH2; Q3SWW6; Q6P3U6; Q7L4C6; Q9H9Q1;
Entrez ID	64359
Genbank protein ID	EAW90641.1; AAH63828.1; BAG63462.1; AAH73845.1; AAH09327.2; EAW90640.1; BAB55122.1; BAB14171.1; AAI04635.1;
Genbank nucleotide ID	NM_022463.4; NM_001205319.1;
Ensembl protein ID	ENSP00000337443; ENSP00000461038;
Ensembl nucleotide ID	ENSG00000167693
Gene name	Nucleoredoxin
Gene symbol	NXN
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	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).
Sequence	MSGFLEELLG EKLVTGGGEE VDVHSLGARG ISLLGLYFGC SLSAPCAQLS ASLAAFYGRL 60 RGDAAAGPGP GAGAGAAAEP EPRRRLEIVF VSSDQDQRQW QDFVRDMPWL ALPYKEKHRK 120 LKLWNKYRIS NIPSLIFLDA TTGKVVCRNG LLVIRDDPEG LEFPWGPKPF REVIAGPLLR 180 NNGQSLESSS LEGSHVGVYF SAHWCPPCRS LTRVLVESYR KIKEAGQNFE IIFVSADRSE 240 ESFKQYFSEM PWLAVPYTDE ARRSRLNRLY GIQGIPTLIM LDPQGEVITR QGRVEVLNDE 300 DCREFPWHPK PVLELSDSNA AQLNEGPCLV LFVDSEDDGE SEAAKQLIQP IAEKIIAKYK 360 AKEEEAPLLF FVAGEDDMTD SLRDYTNLPE AAPLLTILDM SARAKYVMDV EEITPAIVEA 420 FVNDFLAEKL KPEPI 435

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Protein disorder visualization from D2P2 is currently unavailable.

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	NXN	531367	A6QLU8		Bos taurus	Prediction	More>>
1:1 ortholog	NXN	611162	J9NXW0		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	NXN		A0A452F4G8		Capra hircus	Prediction	More>>
1:1 ortholog	NXN	64359	Q6DKJ4		Homo sapiens	Prediction	More>>
1:1 ortholog	Nxn	18230	P97346	CPO	Mus musculus	Publication	More>>
1:1 ortholog	NXN	746905	K7DKH1		Pan troglodytes	Prediction	More>>
1:1 ortholog	NXN		I3LEF2		Sus scrofa	Prediction	More>>
1:1 ortholog	NXN	100338429	G1SNE1		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Nxn	360577	D4A0M2		Rattus norvegicus	Prediction	More>>
1:1 ortholog	nxn		F1R5G2		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1217135725	p.Leu13Val	missense variant	-	NC_000017.11:g.979642G>C	gnomAD
rs541916661	p.Val14Ala	missense variant	-	NC_000017.11:g.979638A>G	1000Genomes,ExAC,gnomAD
rs1239567319	p.Val14Met	missense variant	-	NC_000017.11:g.979639C>T	TOPMed
rs775100240	p.Gly16Ser	missense variant	-	NC_000017.11:g.979633C>T	ExAC,gnomAD
rs772085766	p.Val21Met	missense variant	-	NC_000017.11:g.979618C>T	ExAC,gnomAD
rs745786305	p.Val23Ala	missense variant	-	NC_000017.11:g.979611A>G	ExAC,gnomAD
rs1207744200	p.Val23Met	missense variant	-	NC_000017.11:g.979612C>T	TOPMed,gnomAD
rs1393914699	p.His24Arg	missense variant	-	NC_000017.11:g.979608T>C	gnomAD
rs1273813612	p.His24Tyr	missense variant	-	NC_000017.11:g.979609G>A	TOPMed
rs773969385	p.Ser25Leu	missense variant	-	NC_000017.11:g.979605G>A	ExAC,TOPMed,gnomAD
rs748726426	p.Gly27Ser	missense variant	-	NC_000017.11:g.979600C>T	ExAC,TOPMed,gnomAD
rs1362870036	p.Gly27Asp	missense variant	-	NC_000017.11:g.979599C>T	gnomAD
rs777430376	p.Ala28Thr	missense variant	-	NC_000017.11:g.979597C>T	ExAC,TOPMed,gnomAD
rs780253304	p.Ile31Val	missense variant	-	NC_000017.11:g.979588T>C	ExAC,TOPMed,gnomAD
rs994861845	p.Ser32Trp	missense variant	-	NC_000017.11:g.979584G>C	TOPMed
rs750885560	p.Phe38Cys	missense variant	-	NC_000017.11:g.979566A>C	ExAC,gnomAD
rs765717869	p.Cys40Tyr	missense variant	-	NC_000017.11:g.979560C>T	ExAC,gnomAD
rs757416711	p.Ser43Gly	missense variant	-	NC_000017.11:g.979552T>C	ExAC,gnomAD
rs757416711	p.Ser43Cys	missense variant	-	NC_000017.11:g.979552T>A	ExAC,gnomAD
rs1266671330	p.Ala44Thr	missense variant	-	NC_000017.11:g.979549C>T	gnomAD
rs1242029782	p.Pro45Ser	missense variant	-	NC_000017.11:g.979546G>A	gnomAD
rs1278380074	p.Cys46Trp	missense variant	-	NC_000017.11:g.979541G>C	gnomAD
rs1401478285	p.Leu49Pro	missense variant	-	NC_000017.11:g.979533A>G	gnomAD
rs1342696410	p.Ser52Asn	missense variant	-	NC_000017.11:g.979524C>T	gnomAD
rs1244320873	p.Leu53Pro	missense variant	-	NC_000017.11:g.979521A>G	TOPMed
rs1294210029	p.Ala54Gly	missense variant	-	NC_000017.11:g.979518G>C	TOPMed
rs760946964	p.Phe56Leu	missense variant	-	NC_000017.11:g.979511G>T	ExAC,TOPMed,gnomAD
rs1337004510	p.Phe56Val	missense variant	-	NC_000017.11:g.979513A>C	TOPMed
rs1005727468	p.Gly58Ala	missense variant	-	NC_000017.11:g.979506C>G	TOPMed
rs1417281205	p.Arg61Leu	missense variant	-	NC_000017.11:g.979497C>A	TOPMed,gnomAD
rs1417281205	p.Arg61Pro	missense variant	-	NC_000017.11:g.979497C>G	TOPMed,gnomAD
rs1417281205	p.Arg61Gln	missense variant	-	NC_000017.11:g.979497C>T	TOPMed,gnomAD
rs906010846	p.Gly62Arg	missense variant	-	NC_000017.11:g.979495C>T	TOPMed
rs906010846	p.Gly62Arg	missense variant	-	NC_000017.11:g.979495C>G	TOPMed
rs1348248332	p.Asp63Asn	missense variant	-	NC_000017.11:g.979492C>T	TOPMed,gnomAD
rs1044477260	p.Ala64Thr	missense variant	-	NC_000017.11:g.979489C>T	TOPMed,gnomAD
rs1395283008	p.Ala65Thr	missense variant	-	NC_000017.11:g.979486C>T	TOPMed
rs1313690052	p.Gly67Arg	missense variant	-	NC_000017.11:g.979480C>G	TOPMed
rs1014274238	p.Pro68Gln	missense variant	-	NC_000017.11:g.979476G>T	TOPMed,gnomAD
rs1357557898	p.Pro68Ser	missense variant	-	NC_000017.11:g.979477G>A	TOPMed
rs895848866	p.Gly69Arg	missense variant	-	NC_000017.11:g.979474C>T	TOPMed
rs1053115345	p.Gly69Val	missense variant	-	NC_000017.11:g.979473C>A	TOPMed,gnomAD
rs1053115345	p.Gly69Ala	missense variant	-	NC_000017.11:g.979473C>G	TOPMed,gnomAD
rs759317836	p.Gly71Glu	missense variant	-	NC_000017.11:g.979467C>T	ExAC,TOPMed
rs1452075875	p.Ala72Glu	missense variant	-	NC_000017.11:g.979464G>T	gnomAD
rs1487840086	p.Ala74Val	missense variant	-	NC_000017.11:g.979458G>A	gnomAD
rs748816294	p.Ala76Thr	missense variant	-	NC_000017.11:g.979453C>T	ExAC
rs1315741086	p.Ala77Gly	missense variant	-	NC_000017.11:g.979449G>C	gnomAD
rs1467569300	p.Ala77Ser	missense variant	-	NC_000017.11:g.979450C>A	gnomAD
rs1428667072	p.Glu79Gly	missense variant	-	NC_000017.11:g.979443T>C	TOPMed
rs772684733	p.Pro80Leu	missense variant	-	NC_000017.11:g.979440G>A	ExAC,TOPMed,gnomAD
rs772684733	p.Pro80His	missense variant	-	NC_000017.11:g.979440G>T	ExAC,TOPMed,gnomAD
rs747755306	p.Pro82Ser	missense variant	-	NC_000017.11:g.979435G>A	ExAC,gnomAD
rs758707319	p.Arg84Trp	missense variant	-	NC_000017.11:g.979429G>A	ExAC,TOPMed,gnomAD
rs746177151	p.Arg85Leu	missense variant	-	NC_000017.11:g.979425C>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu87Lys	missense variant	-	NC_000017.11:g.979420C>T	NCI-TCGA
rs1478204716	p.Val91Met	missense variant	-	NC_000017.11:g.979408C>T	gnomAD
rs371113760	p.Ser93Trp	missense variant	-	NC_000017.11:g.979401G>C	ESP,ExAC,TOPMed,gnomAD
rs371113760	p.Ser93Leu	missense variant	-	NC_000017.11:g.979401G>A	ESP,ExAC,TOPMed,gnomAD
rs754022022	p.Asp94Glu	missense variant	-	NC_000017.11:g.979397G>C	ExAC,TOPMed
rs1196574071	p.Gln95Lys	missense variant	-	NC_000017.11:g.979396G>T	gnomAD
rs1453793583	p.Gln95Arg	missense variant	-	NC_000017.11:g.979395T>C	gnomAD
rs1472266167	p.Arg98Trp	missense variant	-	NC_000017.11:g.979387G>A	gnomAD
rs764262520	p.Arg98Gln	missense variant	-	NC_000017.11:g.979386C>T	ExAC,TOPMed,gnomAD
rs756414652	p.Asp102Glu	missense variant	-	NC_000017.11:g.979373G>C	ExAC,gnomAD
rs1200701118	p.Val104Met	missense variant	-	NC_000017.11:g.979369C>T	gnomAD
rs767712123	p.Asp106His	missense variant	-	NC_000017.11:g.979363C>G	ExAC,gnomAD
rs759277324	p.Met107Ile	missense variant	-	NC_000017.11:g.979358C>A	ExAC,gnomAD
rs1259827863	p.Leu110Met	missense variant	-	NC_000017.11:g.979351G>T	TOPMed
rs1310033751	p.Tyr114Cys	missense variant	-	NC_000017.11:g.979338T>C	gnomAD
rs751316545	p.Lys115Asn	missense variant	-	NC_000017.11:g.979334C>A	ExAC,TOPMed,gnomAD
rs1449031778	p.Lys115Glu	missense variant	-	NC_000017.11:g.979336T>C	gnomAD
NCI-TCGA novel	p.Glu116Gly	missense variant	-	NC_000017.11:g.979332T>C	NCI-TCGA
rs1184316664	p.Lys117Gln	missense variant	-	NC_000017.11:g.979330T>G	gnomAD
rs766349434	p.His118Gln	missense variant	-	NC_000017.11:g.979325G>C	ExAC,gnomAD
rs1187715879	p.His118Pro	missense variant	-	NC_000017.11:g.979326T>G	TOPMed
rs762844151	p.Arg119Met	missense variant	-	NC_000017.11:g.979323C>A	ExAC,TOPMed,gnomAD
rs769283874	p.Lys120Asn	missense variant	-	NC_000017.11:g.979319C>A	ExAC,gnomAD
rs763428527	p.Leu121Pro	missense variant	-	NC_000017.11:g.826077A>G	ExAC,gnomAD
rs770241381	p.Arg128Gly	missense variant	-	NC_000017.11:g.826057G>C	ExAC,gnomAD
COSM984200	p.Arg128Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.826056C>T	NCI-TCGA Cosmic
rs1430211040	p.Ser130Cys	missense variant	-	NC_000017.11:g.826050G>C	gnomAD
rs988219063	p.Asn131Ser	missense variant	-	NC_000017.11:g.826047T>C	gnomAD
rs1266762064	p.Ile132Thr	missense variant	-	NC_000017.11:g.826044A>G	TOPMed,gnomAD
COSM984196	p.Pro133Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.826042G>A	NCI-TCGA Cosmic
rs199665864	p.Leu135Val	missense variant	-	NC_000017.11:g.826036G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile136Leu	missense variant	-	NC_000017.11:g.826033T>G	NCI-TCGA
rs747027542	p.Asp139Asn	missense variant	-	NC_000017.11:g.826024C>T	ExAC,TOPMed,gnomAD
rs1328591785	p.Ala140Thr	missense variant	-	NC_000017.11:g.826021C>T	gnomAD
COSM4069455	p.Ala140Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.826020G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr142Ala	missense variant	-	NC_000017.11:g.826015T>C	NCI-TCGA
rs1382168362	p.Val145Phe	missense variant	-	NC_000017.11:g.826006C>A	gnomAD
rs917035148	p.Val145Ala	missense variant	-	NC_000017.11:g.826005A>G	TOPMed,gnomAD
rs745712187	p.Arg148Gly	missense variant	-	NC_000017.11:g.825997T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu151Met	missense variant	-	NC_000017.11:g.825988G>T	NCI-TCGA
rs757211358	p.Val153Met	missense variant	-	NC_000017.11:g.825982C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile154ProPheSerTerUnk	frameshift	-	NC_000017.11:g.825979_825980TC>-	NCI-TCGA
COSM4069453	p.Ile154Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.825979T>A	NCI-TCGA Cosmic
rs371999469	p.Arg155Gln	missense variant	-	NC_000017.11:g.825975C>T	ESP,ExAC,TOPMed,gnomAD
rs371999469	p.Arg155Leu	missense variant	-	NC_000017.11:g.825975C>A	ESP,ExAC,TOPMed,gnomAD
rs763870281	p.Arg155Gly	missense variant	-	NC_000017.11:g.825976G>C	ExAC,gnomAD
rs752205016	p.Glu159Ala	missense variant	-	NC_000017.11:g.825963T>G	ExAC,TOPMed
rs752205016	p.Glu159Gly	missense variant	-	NC_000017.11:g.825963T>C	ExAC,TOPMed
rs780843462	p.Gly160Ala	missense variant	-	NC_000017.11:g.823765C>G	ExAC,gnomAD
rs780843462	p.Gly160Asp	missense variant	-	NC_000017.11:g.823765C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly166Arg	missense variant	-	NC_000017.11:g.823748C>T	NCI-TCGA
NCI-TCGA novel	p.Gly166Glu	missense variant	-	NC_000017.11:g.823747C>T	NCI-TCGA
rs754733360	p.Pro167Leu	missense variant	-	NC_000017.11:g.823744G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys168Arg	missense variant	-	NC_000017.11:g.823741T>C	NCI-TCGA
COSM3521875	p.Pro169Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.823738G>A	NCI-TCGA Cosmic
rs765881882	p.Arg171Met	missense variant	-	NC_000017.11:g.823732C>A	ExAC,gnomAD
rs765881882	p.Arg171Lys	missense variant	-	NC_000017.11:g.823732C>T	ExAC,gnomAD
rs372340383	p.Ala175Gly	missense variant	-	NC_000017.11:g.823720G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro177Ser	missense variant	-	NC_000017.11:g.823715G>A	NCI-TCGA
rs775616902	p.Leu178Val	missense variant	-	NC_000017.11:g.823712A>C	ExAC,gnomAD
rs1323552615	p.Leu179His	missense variant	-	NC_000017.11:g.823708A>T	TOPMed
rs772127827	p.Leu179Val	missense variant	-	NC_000017.11:g.823709G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu179Arg	missense variant	-	NC_000017.11:g.823708A>C	NCI-TCGA
rs142523196	p.Arg180Gly	missense variant	-	NC_000017.11:g.823706T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn181Ile	missense variant	-	NC_000017.11:g.823702T>A	NCI-TCGA
rs895428669	p.Asn182Ser	missense variant	-	NC_000017.11:g.823699T>C	TOPMed,gnomAD
rs771006110	p.Gln184Ter	stop gained	-	NC_000017.11:g.823694G>A	ExAC,gnomAD
rs749152307	p.Gln184Arg	missense variant	-	NC_000017.11:g.823693T>C	ExAC,gnomAD
rs1253656186	p.Ser185Tyr	missense variant	-	NC_000017.11:g.823690G>T	TOPMed
NCI-TCGA novel	p.Glu187Ter	stop gained	-	NC_000017.11:g.823685C>A	NCI-TCGA
NCI-TCGA novel	p.Glu187Ala	missense variant	-	NC_000017.11:g.823684T>G	NCI-TCGA
rs144575469	p.Ser189Gly	missense variant	-	NC_000017.11:g.823679T>C	ESP
rs747076520	p.Ser189Arg	missense variant	-	NC_000017.11:g.823677G>C	ExAC,TOPMed,gnomAD
rs748083527	p.Ser190Arg	missense variant	-	NC_000017.11:g.823674G>T	ExAC,gnomAD
rs138173706	p.Gly193Arg	missense variant	-	NC_000017.11:g.823667C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138173706	p.Gly193Arg	missense variant	-	NC_000017.11:g.823667C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1003658000	p.Val196Met	missense variant	-	NC_000017.11:g.823658C>T	TOPMed,gnomAD
rs754274169	p.Val198Ile	missense variant	-	NC_000017.11:g.823652C>T	ExAC,gnomAD
rs754274169	p.Val198Phe	missense variant	-	NC_000017.11:g.823652C>A	ExAC,gnomAD
rs764441690	p.Tyr199Cys	missense variant	-	NC_000017.11:g.823648T>C	ExAC,TOPMed,gnomAD
COSM276428	p.Phe200Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.823644G>T	NCI-TCGA Cosmic
rs201764402	p.Ala202Thr	missense variant	-	NC_000017.11:g.823640C>T	1000Genomes,ExAC,gnomAD
rs1414754645	p.His203Tyr	missense variant	-	NC_000017.11:g.823637G>A	TOPMed
rs1285300792	p.His203Leu	missense variant	-	NC_000017.11:g.823636T>A	TOPMed
NCI-TCGA novel	p.Trp204LeuPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.823633_823634insA	NCI-TCGA
rs139124108	p.Pro206Leu	missense variant	-	NC_000017.11:g.822453G>A	ESP,TOPMed,gnomAD
COSM6148006	p.Cys208Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.822447C>A	NCI-TCGA Cosmic
rs1555610590	p.Arg209Ter	stop gained	-	NC_000017.11:g.822445G>A	-
rs1167755610	p.Arg209Gln	missense variant	-	NC_000017.11:g.822444C>T	TOPMed
RCV000791460	p.Arg209Ter	nonsense	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (RRS2)	NC_000017.11:g.822445G>A	ClinVar
rs1188786344	p.Ser210Asn	missense variant	-	NC_000017.11:g.822441C>T	gnomAD
rs1474750195	p.Ser210Arg	missense variant	-	NC_000017.11:g.822440G>T	gnomAD
rs949521640	p.Thr212Ser	missense variant	-	NC_000017.11:g.822435G>C	TOPMed,gnomAD
rs949521640	p.Thr212Asn	missense variant	-	NC_000017.11:g.822435G>T	TOPMed,gnomAD
rs1013992060	p.Arg213Gln	missense variant	-	NC_000017.11:g.822432C>T	TOPMed
rs1271457542	p.Glu217Lys	missense variant	-	NC_000017.11:g.822421C>T	gnomAD
rs765517973	p.Arg220Trp	missense variant	-	NC_000017.11:g.822412G>A	ExAC,gnomAD
rs765517973	p.Arg220Gly	missense variant	-	NC_000017.11:g.822412G>C	ExAC,gnomAD
rs761724253	p.Arg220Gln	missense variant	-	NC_000017.11:g.822411C>T	ExAC,TOPMed,gnomAD
rs776545872	p.Ile222Met	missense variant	-	NC_000017.11:g.822404G>C	ExAC,gnomAD
rs1212707935	p.Lys223Arg	missense variant	-	NC_000017.11:g.822402T>C	gnomAD
NCI-TCGA novel	p.Gln227His	missense variant	-	NC_000017.11:g.822389C>A	NCI-TCGA
rs1298852171	p.Gln227Arg	missense variant	-	NC_000017.11:g.822390T>C	TOPMed
rs903991084	p.Asn228Lys	missense variant	-	NC_000017.11:g.822386G>C	TOPMed
rs1442416840	p.Glu230Lys	missense variant	-	NC_000017.11:g.822382C>T	TOPMed,gnomAD
rs199546668	p.Glu230Asp	missense variant	-	NC_000017.11:g.822380C>G	ESP,ExAC,TOPMed,gnomAD
rs370296358	p.Val234Ile	missense variant	-	NC_000017.11:g.822370C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala236Thr	missense variant	-	NC_000017.11:g.822364C>T	NCI-TCGA
rs768904998	p.Arg238Ser	missense variant	-	NC_000017.11:g.819545C>G	ExAC,gnomAD
rs747357061	p.Ser239Leu	missense variant	-	NC_000017.11:g.819543G>A	ExAC,TOPMed,gnomAD
rs1215820800	p.Glu240Asp	missense variant	-	NC_000017.11:g.819539C>A	TOPMed,gnomAD
rs146817876	p.Glu241Asp	missense variant	-	NC_000017.11:g.819536C>G	ESP,ExAC,TOPMed,gnomAD
rs200136022	p.Ser242Cys	missense variant	-	NC_000017.11:g.819534G>C	ESP,ExAC,TOPMed,gnomAD
rs200136022	p.Ser242Phe	missense variant	-	NC_000017.11:g.819534G>A	ESP,ExAC,TOPMed,gnomAD
rs1222860217	p.Lys244Arg	missense variant	-	NC_000017.11:g.819528T>C	gnomAD
rs142489141	p.Gln245Leu	missense variant	-	NC_000017.11:g.819525T>A	ESP,ExAC,TOPMed,gnomAD
rs1331765237	p.Gln245His	missense variant	-	NC_000017.11:g.819524C>G	TOPMed
COSM3672557	p.Tyr246Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.819522T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe247Leu	missense variant	-	NC_000017.11:g.819518G>T	NCI-TCGA
rs1379099660	p.Phe247Leu	missense variant	-	NC_000017.11:g.819518G>C	TOPMed
rs1325139261	p.Ser248Thr	missense variant	-	NC_000017.11:g.819516C>G	gnomAD
rs1417141742	p.Glu249Lys	missense variant	-	NC_000017.11:g.819514C>T	gnomAD
rs757615057	p.Met250Ile	missense variant	-	NC_000017.11:g.819509C>A	ExAC
rs372695435	p.Pro251Ser	missense variant	-	NC_000017.11:g.819508G>A	ESP,ExAC,gnomAD
rs1302813232	p.Pro251Leu	missense variant	-	NC_000017.11:g.819507G>A	TOPMed,gnomAD
rs372695435	p.Pro251Ala	missense variant	-	NC_000017.11:g.819508G>C	ESP,ExAC,gnomAD
rs760422030	p.Trp252Arg	missense variant	-	NC_000017.11:g.819505A>T	ExAC,gnomAD
rs1227443344	p.Leu253Val	missense variant	-	NC_000017.11:g.819502G>C	gnomAD
rs767391651	p.Ala254Thr	missense variant	-	NC_000017.11:g.819499C>T	ExAC,TOPMed,gnomAD
rs373626666	p.Val255Ile	missense variant	-	NC_000017.11:g.819496C>T	ESP,ExAC,TOPMed,gnomAD
rs373626666	p.Val255Leu	missense variant	-	NC_000017.11:g.819496C>G	ESP,ExAC,TOPMed,gnomAD
rs201388018	p.Thr258Met	missense variant	-	NC_000017.11:g.819486G>A	ESP,ExAC,TOPMed,gnomAD
rs1256668332	p.Asp259Asn	missense variant	-	NC_000017.11:g.819484C>T	gnomAD
NCI-TCGA novel	p.Asp259Val	missense variant	-	NC_000017.11:g.819483T>A	NCI-TCGA
rs1205646351	p.Glu260Asp	missense variant	-	NC_000017.11:g.819479C>A	TOPMed,gnomAD
rs1258493558	p.Ala261Val	missense variant	-	NC_000017.11:g.819477G>A	gnomAD
rs769441620	p.Ala261Ser	missense variant	-	NC_000017.11:g.819478C>A	ExAC,gnomAD
rs769441620	p.Ala261Thr	missense variant	-	NC_000017.11:g.819478C>T	ExAC,gnomAD
rs376430578	p.Arg262Trp	missense variant	-	NC_000017.11:g.819475G>A	ESP,ExAC,gnomAD
rs1334684450	p.Arg262Gln	missense variant	-	NC_000017.11:g.819474C>T	TOPMed,gnomAD
rs780435566	p.Arg263Trp	missense variant	-	NC_000017.11:g.819472G>A	ExAC,gnomAD
rs772773645	p.Arg263Gln	missense variant	-	NC_000017.11:g.819471C>T	ExAC,gnomAD
rs1353964369	p.Ser264Leu	missense variant	-	NC_000017.11:g.819468G>A	gnomAD
NCI-TCGA novel	p.Ser264Ala	missense variant	-	NC_000017.11:g.819469A>C	NCI-TCGA
rs757420440	p.Arg265His	missense variant	-	NC_000017.11:g.819465C>T	ExAC,gnomAD
rs779509441	p.Arg265Cys	missense variant	-	NC_000017.11:g.819466G>A	ExAC,TOPMed,gnomAD
rs777902672	p.Arg268Gln	missense variant	-	NC_000017.11:g.819456C>T	ExAC,TOPMed,gnomAD
rs200792211	p.Arg268Trp	missense variant	-	NC_000017.11:g.819457G>A	ESP,ExAC,TOPMed,gnomAD
rs202181177	p.Leu269Met	missense variant	-	NC_000017.11:g.819454G>T	1000Genomes,ESP,ExAC,gnomAD
rs1367687814	p.Gly271Arg	missense variant	-	NC_000017.11:g.819448C>T	gnomAD
rs1451133106	p.Pro276Leu	missense variant	-	NC_000017.11:g.805241G>A	TOPMed
rs1280303779	p.Thr277Met	missense variant	-	NC_000017.11:g.805238G>A	gnomAD
rs756828096	p.Ile279Met	missense variant	-	NC_000017.11:g.805231G>C	ExAC,gnomAD
rs1415302182	p.Met280Val	missense variant	-	NC_000017.11:g.805230T>C	gnomAD
rs763892186	p.Met280Ile	missense variant	-	NC_000017.11:g.805228C>A	ExAC
rs1415302182	p.Met280Leu	missense variant	-	NC_000017.11:g.805230T>A	gnomAD
rs377207542	p.Met280Thr	missense variant	-	NC_000017.11:g.805229A>G	ESP,ExAC,gnomAD
rs1413340199	p.Asp282Asn	missense variant	-	NC_000017.11:g.805224C>T	gnomAD
rs766775982	p.Pro283Leu	missense variant	-	NC_000017.11:g.805220G>A	ExAC,TOPMed,gnomAD
rs762001064	p.Glu286Lys	missense variant	-	NC_000017.11:g.805212C>T	ExAC,TOPMed,gnomAD
rs1186070371	p.Val287Leu	missense variant	-	NC_000017.11:g.805209C>A	gnomAD
COSM1385604	p.Val287Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.805208A>G	NCI-TCGA Cosmic
rs1285132490	p.Thr289Met	missense variant	-	NC_000017.11:g.805202G>A	gnomAD
rs768934588	p.Arg290Gln	missense variant	-	NC_000017.11:g.805199C>T	ExAC,TOPMed,gnomAD
rs1327405274	p.Arg290Trp	missense variant	-	NC_000017.11:g.805200G>A	gnomAD
rs1233630899	p.Gly292Glu	missense variant	-	NC_000017.11:g.805193C>T	gnomAD
rs780193065	p.Val294Ala	missense variant	-	NC_000017.11:g.805187A>G	ExAC,TOPMed,gnomAD
rs780193065	p.Val294Gly	missense variant	-	NC_000017.11:g.805187A>C	ExAC,TOPMed,gnomAD
rs780193065	p.Val294Glu	missense variant	-	NC_000017.11:g.805187A>T	ExAC,TOPMed,gnomAD
rs745614379	p.Glu295Gly	missense variant	-	NC_000017.11:g.805184T>C	ExAC,gnomAD
rs757123512	p.Val296Gly	missense variant	-	NC_000017.11:g.805181A>C	ExAC,gnomAD
rs777406672	p.Asn298Lys	missense variant	-	NC_000017.11:g.805174G>C	ExAC,TOPMed,gnomAD
COSM4069166	p.Asp299Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.805173C>T	NCI-TCGA Cosmic
rs1472783780	p.Glu300Asp	missense variant	-	NC_000017.11:g.805168C>A	gnomAD
rs752398947	p.Glu300Ter	stop gained	-	NC_000017.11:g.805170C>A	ExAC,gnomAD
rs752398947	p.Glu300Lys	missense variant	-	NC_000017.11:g.805170C>T	ExAC,gnomAD
rs750729972	p.Arg303Gln	missense variant	-	NC_000017.11:g.805160C>T	ExAC,TOPMed,gnomAD
rs763398102	p.Arg303Trp	missense variant	-	NC_000017.11:g.805161G>A	ExAC,TOPMed,gnomAD
rs763398102	p.Arg303Gly	missense variant	-	NC_000017.11:g.805161G>C	ExAC,TOPMed,gnomAD
rs762305538	p.Pro309Leu	missense variant	-	NC_000017.11:g.805142G>A	ExAC,TOPMed,gnomAD
rs374139460	p.Val312Met	missense variant	-	NC_000017.11:g.805134C>T	ESP,ExAC,TOPMed,gnomAD
rs374139460	p.Val312Leu	missense variant	-	NC_000017.11:g.805134C>G	ESP,ExAC,TOPMed,gnomAD
rs372591037	p.Asp317Tyr	missense variant	-	NC_000017.11:g.805119C>A	ESP,ExAC,TOPMed,gnomAD
rs368025094	p.Asp317Glu	missense variant	-	NC_000017.11:g.805117G>C	ESP,ExAC,TOPMed,gnomAD
rs372591037	p.Asp317Asn	missense variant	-	NC_000017.11:g.805119C>T	ESP,ExAC,TOPMed,gnomAD
rs539986362	p.Ser318Cys	missense variant	-	NC_000017.11:g.805115G>C	1000Genomes,ExAC,gnomAD
rs374093065	p.Ala320Thr	missense variant	-	NC_000017.11:g.805110C>T	ESP,ExAC,TOPMed,gnomAD
rs146444754	p.Ala321Val	missense variant	-	NC_000017.11:g.805106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200704586	p.Ala321Ser	missense variant	-	NC_000017.11:g.805107C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200704586	p.Ala321Thr	missense variant	-	NC_000017.11:g.805107C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757561800	p.Asn324Thr	missense variant	-	NC_000017.11:g.805097T>G	ExAC,gnomAD
rs1231435913	p.Glu325Lys	missense variant	-	NC_000017.11:g.805095C>T	TOPMed
rs764548110	p.Leu329Pro	missense variant	-	NC_000017.11:g.805082A>G	ExAC,gnomAD
rs775415213	p.Val330Ile	missense variant	-	NC_000017.11:g.805080C>T	ExAC,TOPMed,gnomAD
rs1220493023	p.Leu331Val	missense variant	-	NC_000017.11:g.805077G>C	TOPMed,gnomAD
rs1328471507	p.Asp338Asn	missense variant	-	NC_000017.11:g.803795C>T	TOPMed
rs767668963	p.Gly339Arg	missense variant	-	NC_000017.11:g.803792C>T	TOPMed,gnomAD
rs767668963	p.Gly339Arg	missense variant	-	NC_000017.11:g.803792C>G	TOPMed,gnomAD
rs377506387	p.Ser341Ala	missense variant	-	NC_000017.11:g.803786A>C	ESP,ExAC,TOPMed,gnomAD
rs746489680	p.Glu342Lys	missense variant	-	NC_000017.11:g.803783C>T	ExAC,TOPMed,gnomAD
rs550128795	p.Glu342Ala	missense variant	-	NC_000017.11:g.803782T>G	1000Genomes,ExAC,gnomAD
rs550128795	p.Glu342Val	missense variant	-	NC_000017.11:g.803782T>A	1000Genomes,ExAC,gnomAD
rs537114982	p.Ala343Glu	missense variant	-	NC_000017.11:g.803779G>T	1000Genomes,ExAC,gnomAD
rs537114982	p.Ala343Val	missense variant	-	NC_000017.11:g.803779G>A	1000Genomes,ExAC,gnomAD
rs866948738	p.Ala344Thr	missense variant	-	NC_000017.11:g.803777C>T	-
rs1226899546	p.Ala344Gly	missense variant	-	NC_000017.11:g.803776G>C	gnomAD
NCI-TCGA novel	p.Lys345Thr	missense variant	-	NC_000017.11:g.803773T>G	NCI-TCGA
rs374705601	p.Gln349Glu	missense variant	-	NC_000017.11:g.803762G>C	ESP,ExAC,TOPMed
rs1398377070	p.Pro350Leu	missense variant	-	NC_000017.11:g.803758G>A	gnomAD
rs1245635818	p.Ile351Met	missense variant	-	NC_000017.11:g.803754T>C	TOPMed
rs1481009344	p.Glu353Gln	missense variant	-	NC_000017.11:g.803750C>G	TOPMed
NCI-TCGA novel	p.Lys354Ter	stop gained	-	NC_000017.11:g.803747T>A	NCI-TCGA
rs750301202	p.Ala366Val	missense variant	-	NC_000017.11:g.803710G>A	ExAC,gnomAD
rs150768623	p.Leu369Val	missense variant	-	NC_000017.11:g.803702G>C	ESP,ExAC,gnomAD
rs1254836415	p.Phe371Ile	missense variant	-	NC_000017.11:g.803696A>T	gnomAD
rs1254836415	p.Phe371Leu	missense variant	-	NC_000017.11:g.803696A>G	gnomAD
rs61731770	p.Val372Ile	missense variant	-	NC_000017.11:g.803693C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371091546	p.Gly374Arg	missense variant	-	NC_000017.11:g.803687C>T	ESP,ExAC,TOPMed,gnomAD
rs1207725999	p.Gly374Glu	missense variant	-	NC_000017.11:g.803686C>T	gnomAD
rs371091546	p.Gly374Trp	missense variant	-	NC_000017.11:g.803687C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu375Asp	missense variant	-	NC_000017.11:g.803682C>A	NCI-TCGA
rs771571628	p.Asp377Asn	missense variant	-	NC_000017.11:g.801128C>T	ExAC,gnomAD
rs759002236	p.Met378Leu	missense variant	-	NC_000017.11:g.801125T>A	ExAC
COSM4069154	p.Asp380Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.801118T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg383Ter	stop gained	-	NC_000017.11:g.801110G>A	NCI-TCGA
COSM3521544	p.Arg383Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.801109C>T	NCI-TCGA Cosmic
rs1227913313	p.Thr386Ala	missense variant	-	NC_000017.11:g.801101T>C	gnomAD
rs770591775	p.Asn387Lys	missense variant	-	NC_000017.11:g.801096G>T	ExAC,TOPMed,gnomAD
COSM3820423	p.Pro389Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.801092G>A	NCI-TCGA Cosmic
rs148684832	p.Ala392Ser	missense variant	-	NC_000017.11:g.801083C>A	ESP,ExAC,TOPMed,gnomAD
rs1403320091	p.Met400Thr	missense variant	-	NC_000017.11:g.801058A>G	gnomAD
rs1405780218	p.Met400Val	missense variant	-	NC_000017.11:g.801059T>C	TOPMed
NCI-TCGA novel	p.Ala402Val	missense variant	-	NC_000017.11:g.801052G>A	NCI-TCGA
rs1431597050	p.Arg403Trp	missense variant	-	NC_000017.11:g.801050G>A	TOPMed,gnomAD
rs780641044	p.Arg403Gln	missense variant	-	NC_000017.11:g.801049C>T	ExAC,TOPMed,gnomAD
rs1177941262	p.Tyr406Asn	missense variant	-	NC_000017.11:g.801041A>T	gnomAD
rs757472688	p.Val407Met	missense variant	-	NC_000017.11:g.801038C>T	ExAC,gnomAD
rs757472688	p.Val407Leu	missense variant	-	NC_000017.11:g.801038C>A	ExAC,gnomAD
rs1406739692	p.Met408Val	missense variant	-	NC_000017.11:g.801035T>C	gnomAD
NCI-TCGA novel	p.Asp409Gly	missense variant	-	NC_000017.11:g.801031T>C	NCI-TCGA
rs753645691	p.Val410Met	missense variant	-	NC_000017.11:g.801029C>T	ExAC,TOPMed,gnomAD
rs755811133	p.Glu411Asp	missense variant	-	NC_000017.11:g.801024C>G	ExAC,TOPMed,gnomAD
rs1484350076	p.Glu412Gln	missense variant	-	NC_000017.11:g.801023C>G	gnomAD
rs752658074	p.Glu412Val	missense variant	-	NC_000017.11:g.801022T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu412Asp	missense variant	-	NC_000017.11:g.801021C>G	NCI-TCGA
rs767390135	p.Pro415Ser	missense variant	-	NC_000017.11:g.801014G>A	ExAC,TOPMed,gnomAD
rs142969412	p.Ala416Val	missense variant	-	NC_000017.11:g.801010G>A	ESP,ExAC,TOPMed,gnomAD
rs759092228	p.Ala416Thr	missense variant	-	NC_000017.11:g.801011C>T	ExAC,TOPMed,gnomAD
rs1233237987	p.Val418Met	missense variant	-	NC_000017.11:g.801005C>T	gnomAD
rs1307506533	p.Glu419Asp	missense variant	-	NC_000017.11:g.801000C>G	TOPMed,gnomAD
rs375068787	p.Ala420Val	missense variant	-	NC_000017.11:g.800998G>A	ESP,ExAC,TOPMed,gnomAD
rs1434739484	p.Ala427Val	missense variant	-	NC_000017.11:g.800977G>A	TOPMed,gnomAD
rs772681179	p.Leu430Phe	missense variant	-	NC_000017.11:g.800969G>A	ExAC,gnomAD
rs772681179	p.Leu430Val	missense variant	-	NC_000017.11:g.800969G>C	ExAC,gnomAD
rs747339401	p.Pro432Leu	missense variant	-	NC_000017.11:g.800962G>A	ExAC,gnomAD
rs769069914	p.Pro432Ser	missense variant	-	NC_000017.11:g.800963G>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005823	Blood Pressure	phenotype	GWASDB
C0009402	Colorectal Carcinoma	disease	CTD_human
C0009404	Colorectal Neoplasms	group	CTD_human
C0010417	Cryptorchidism	disease	HPO
C0011053	Deafness	phenotype	HPO
C0015300	Exophthalmos	disease	HPO
C0017566	Gingival Hyperplasia	phenotype	HPO
C0017567	Gingival Hypertrophy	disease	HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0019322	Umbilical hernia	phenotype	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0022821	Kyphosis deformity of spine	phenotype	HPO
C0024433	Macrostomia	disease	HPO
C0025990	Micrognathism	disease	HPO
C0037932	Curvature of spine	phenotype	HPO
C0152415	Ankyloglossia	disease	HPO
C0158683	Polycystic liver disease	disease	BEFREE
C0221354	Frontal bossing	disease	HPO
C0221357	Brachydactyly	disease	HPO
C0266061	Open Bite	phenotype	HPO
C0266111	Bifid tongue	disease	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0271441	Chronic otitis media	disease	HPO
C0339789	Congenital deafness	disease	HPO
C0376480	Gingival Overgrowth	phenotype	HPO
C0423109	Upward slant of palpebral fissure	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0426891	Broad thumbs	phenotype	HPO
C0428883	Diastolic blood pressure	phenotype	GWASCAT
C0428886	Mean blood pressure	phenotype	GWASCAT
C0432163	Defect of vertebral segmentation	disease	HPO
C0549306	Mesomelia	disease	HPO
C0678230	Congenital Epicanthus	disease	HPO
C0700208	Acquired scoliosis	phenotype	HPO
C0743359	Chronic ear infection	disease	HPO
C1271104	Blood pressure finding	phenotype	GWASDB
C1272641	Systemic arterial pressure	phenotype	GWASDB
C1319315	Adenocarcinoma of large intestine	disease	GWASDB
C1384666	hearing impairment	phenotype	HPO
C1403299	Radiohumeral dislocation	phenotype	HPO
C1403321	Ulnohumeral dislocation	phenotype	HPO
C1527249	Colorectal Cancer	disease	CTD_human;GWASCAT
C1836542	Depressed nasal bridge	phenotype	HPO
C1837760	Prominent eyes	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1839767	Tented upper lip vermilion	phenotype	HPO
C1839829	Short distal phalanx of finger	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1844749	Rib fusion	disease	HPO
C1845112	Hyperkyphosis	phenotype	HPO
C1848490	Protruding eyes	phenotype	HPO
C1849334	Robinow syndrome, autosomal recessive	disease	ORPHANET
C1849340	Long palpebral fissure	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1849937	Disproportionate short-limb short stature	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1850072	Tented upper lip	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1853383	Tented mouth	phenotype	HPO
C1853738	Long eyelashes	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1862425	Prominent globes	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1866195	Downturned corners of mouth	phenotype	HPO
C2051831	Pectus excavatum	phenotype	HPO
C2673410	Small midface	phenotype	HPO
C2720437	Dislocation of elbow joint	phenotype	HPO
C3550546	Depressed nasal root/bridge	phenotype	HPO
C4020952	Fingernail dysplasia	disease	HPO
C4021343	Broad hallux phalanx	phenotype	HPO
C4022715	Hypoplastic female external genitalia	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4255098	Cleft tongue	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4476522	Oral soft tissue hyperplasia	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004791	thioredoxin-disulfide reductase activity	IEA
GO:0047134	protein-disulfide reductase activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001701	in utero embryonic development	IEA
GO:0016055	Wnt signaling pathway	IEA
GO:0030154	cell differentiation	IEA
GO:0030178	negative regulation of Wnt signaling pathway	ISS
GO:0031397	negative regulation of protein ubiquitination	ISS
GO:0045454	cell redox homeostasis	IEA
GO:0055114	oxidation-reduction process	IEA
GO:0072358	cardiovascular system development	ISS
GO:0098869	cellular oxidant detoxification	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005634	nucleus	IEA
GO:0005829	cytosol	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of NXN mRNA	31388691
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of NXN mRNA	21346803
C079389	2,4-hexadienal	NXN gene SNP affects the susceptibility to 2,4-hexadienal	25622337
C017906	3-dinitrobenzene	3-dinitrobenzene results in increased expression of NXN mRNA	21983209
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of NXN mRNA	22079614
D000082	Acetaminophen	Acetaminophen results in increased expression of NXN mRNA	29067470
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of NXN mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of NXN mRNA]	17585979
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of NXN intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of NXN promoter	30157460
C029753	aflatoxin B2	aflatoxin B2 affects the methylation of NXN intron	30157460
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of NXN mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of NXN gene	25304211
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of NXN intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of NXN mRNA	20106945; 21632981;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of NXN mRNA	21569818
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of NXN intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of NXN mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of NXN mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased methylation of NXN intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of NXN mRNA	22576693
C006780	bisphenol A	bisphenol A results in increased methylation of NXN gene	22576693
C584509	C646 compound	C646 compound results in increased expression of NXN mRNA	26191083
D002122	Calcium Chloride	Calcium Chloride results in increased expression of NXN protein	25824407
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of NXN mRNA	17484886
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of NXN gene	20938992
C031180	chrysene	chrysene results in increased expression of NXN mRNA	26377693
D002945	Cisplatin	Cisplatin results in increased expression of NXN mRNA	24865317
D002945	Cisplatin	Lutein inhibits the reaction [Cisplatin results in increased expression of NXN mRNA]	24865317
D002990	Clobetasol	Clobetasol results in increased expression of NXN mRNA	27462272
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of NXN mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of NXN mRNA]	17585979
D003471	Cuprizone	Cuprizone results in increased expression of NXN mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in decreased expression of NXN mRNA	27989131
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of NXN mRNA	24535843
D004958	Estradiol	Estradiol results in increased expression of NXN mRNA	19484750
D000431	Ethanol	Ethanol affects the expression of NXN mRNA	30319688
D017313	Fenretinide	Fenretinide results in increased expression of NXN mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of NXN gene	20938992
D004397	Fonofos	Fonofos results in increased methylation of NXN promoter	22847954
C069837	fullerene C60	fullerene C60 results in decreased expression of NXN mRNA	19167457
C492448	ICG 001	ICG 001 results in increased expression of NXN mRNA	26191083
C016517	indole-3-carbinol	indole-3-carbinol affects the expression of NXN mRNA	21396975
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of NXN mRNA	24796395
D007854	Lead	Lead affects the expression of NXN mRNA	28903495
D014975	Lutein	Lutein inhibits the reaction [Cisplatin results in increased expression of NXN mRNA]	24865317
D014975	Lutein	Lutein results in increased expression of NXN mRNA	24865317
D008701	Methapyrilene	Methapyrilene affects the methylation of NXN intron	30157460
D008713	Methimazole	Methimazole results in increased expression of NXN mRNA	22504374
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of NXN gene	20938992
D008727	Methotrexate	Methotrexate results in decreased expression of NXN mRNA	17400583
D008748	Methylcholanthrene	Methylcholanthrene results in decreased expression of NXN mRNA	29554273
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of NXN mRNA	26011545
D008777	Methyltestosterone	Methyltestosterone results in increased expression of NXN mRNA	29191790
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of NXN mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of NXN mRNA	25554681
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of NXN mRNA	25729387
D010278	Parathion	Parathion results in increased methylation of NXN promoter	22847954
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of NXN mRNA	21061450
C060540	polyhexamethyleneguanidine	polyhexamethyleneguanidine affects the expression of NXN mRNA	29337256
D011441	Propylthiouracil	Propylthiouracil results in increased expression of NXN mRNA	22504374
D012834	Silver	Silver results in increased expression of NXN mRNA	19429238
C017947	sodium arsenite	sodium arsenite results in decreased expression of NXN mRNA	29361514
D012999	Soman	Soman results in increased expression of NXN mRNA	19281266
C012568	terbufos	terbufos results in increased methylation of NXN promoter	22847954
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of NXN protein	30291989
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of NXN mRNA	25729387
D014212	Tretinoin	Tretinoin results in increased expression of NXN mRNA	16604517
C012589	trichostatin A	trichostatin A affects the expression of NXN mRNA	28542535
D014415	Tunicamycin	Tunicamycin results in decreased expression of NXN mRNA	22378314
D014635	Valproic Acid	Valproic Acid affects the expression of NXN mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of NXN mRNA	19101580
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of NXN gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of NXN mRNA	22570695

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0242	Dwarfism
KW-0520	NAD
KW-0539	Nucleus
KW-0560	Oxidoreductase
KW-1185	Reference proteome
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR041861	NRX_PDI_b
IPR012336	Thioredoxin-like_fold
IPR036249	Thioredoxin-like_sf
IPR013766	Thioredoxin_domain

PROSITE

PROSITE ID	PROSITE Term
PS51352	THIOREDOXIN_2

Pfam

Pfam ID	Pfam Term
PF13905	Thioredoxin_8