Gene Page:NUP214

Summary?
GeneID 8021
Symbol NUP214
Synonyms CAIN|CAN
Description nucleoporin 214kDa
Reference MIM:114350|HGNC:HGNC:8064|Ensembl:ENSG00000126883|HPRD:00258|Vega:OTTHUMG00000020816
Gene type protein-coding
Map location 9q34.1
Pascal p-value 0.004
Sherlock p-value 0.951
TADA p-value 0.005
Fetal beta 0.596
DMG 1 (# studies)
eGene Cerebellum
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Nishioka_2013 Genome-wide DNA methylation analysis The authors investigated the methylation profiles of DNA in peripheral blood cells from 18 patients with first-episode schizophrenia (FESZ) and from 15 normal controls. 1
DNM:Gulsuner_2013 Whole Exome Sequencing analysis 155 DNMs identified by exome sequencing of quads or trios of schizophrenia individuals and their parents.

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
NUP214 chr9 134019942 C NN NM_005085 . frameshift Schizophrenia DNM:Gulsuner_2013

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg09553448 9 134000424 NUP214 -0.057 0.41 DMG:Nishioka_2013

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs16894557 chr6 28999825 NUP214 8021 0.09 trans
rs11975990 chr7 9723034 NUP214 8021 0.19 trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section IV. Protein-protein interaction annotation

Interactors Aliases B Official full name B Experimental Source PubMed ID
DDX19B DBP5 | DDX19 | RNAh DEAD (Asp-Glu-Ala-As) box polypeptide 19B - HPRD,BioGRID 10428971
IPO5 DKFZp686O1576 | FLJ43041 | IMB3 | KPNB3 | MGC2068 | RANBP5 importin 5 - HPRD,BioGRID 9114010
NFX1 DKFZp779G2416 | MGC20369 | NFX2 nuclear transcription factor, X-box binding 1 Reconstituted Complex BioGRID 11073998
NUP107 NUP84 nucleoporin 107kDa - HPRD,BioGRID 9166401
NUP88 MGC8530 nucleoporin 88kDa - HPRD 9488438
NUP98 ADIR2 | NUP196 | NUP96 nucleoporin 98kDa - HPRD 12589057
NXF1 DKFZp667O0311 | MEX67 | TAP nuclear RNA export factor 1 Reconstituted Complex BioGRID 11073998|11551912
NXF1 DKFZp667O0311 | MEX67 | TAP nuclear RNA export factor 1 - HPRD 10668806|11551912
NXF2 FLJ20416 | TAPL-2 nuclear RNA export factor 2 - HPRD,BioGRID 11073998
NXF3 - nuclear RNA export factor 3 Reconstituted Complex BioGRID 11073998
SMAD2 JV18 | JV18-1 | MADH2 | MADR2 | MGC22139 | MGC34440 | hMAD-2 | hSMAD2 SMAD family member 2 - HPRD 12191473
SMAD3 DKFZp586N0721 | DKFZp686J10186 | HSPC193 | HsT17436 | JV15-2 | MADH3 | MGC60396 SMAD family member 3 Smad3 interacts with CAN/Nup214. This interaction was modelled on a demonstrated interaction between Smad3 and CAN/Nup214 whose origins are unknown. BIND 12917407
TNPO1 IPO2 | KPNB2 | MIP | MIP1 | TRN transportin 1 - HPRD 9144189
XPO1 CRM1 | DKFZp686B1823 exportin 1 (CRM1 homolog, yeast) - HPRD 11551912
XPO1 CRM1 | DKFZp686B1823 exportin 1 (CRM1 homolog, yeast) Affinity Capture-Western BioGRID 11425870
XPO5 FLJ14239 | FLJ32057 | FLJ45606 | KIAA1291 exportin 5 - HPRD,BioGRID 11777942
XPOT XPO3 间,tRNA(出口核受体转运rna) - HPRD 12138183
ZFP36 G0S24 | GOS24 | NUP475 | RNF162A | TIS11 | TTP zinc finger protein 36, C3H type, homolog (mouse) - HPRD,BioGRID 14766228


Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
PID NFAT 3PATHWAY 54 47 All SZGR 2.0 genes in this pathway
PID BMP PATHWAY 42 31 All SZGR 2.0 genes in this pathway
PID SMAD2 3PATHWAY 17 13 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF NON CODING RNA 49 29 All SZGR 2.0 genes in this pathway
REACTOME ANTIVIRAL MECHANISM BY IFN STIMULATED GENES 66 45 All SZGR 2.0 genes in this pathway
REACTOME PROCESSING OF CAPPED INTRON CONTAINING PRE MRNA 140 77 All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF MATURE TRANSCRIPT TO CYTOPLASM 54 34 All SZGR 2.0 genes in this pathway
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413 270 All SZGR 2.0 genes in this pathway
REACTOME MRNA PROCESSING 161 86 All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF MATURE MRNA DERIVED FROM AN INTRONLESS TRANSCRIPT 33 21 All SZGR 2.0 genes in this pathway
REACTOME SLC MEDIATED TRANSMEMBRANE TRANSPORT 241 157 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF MRNA 284 128 All SZGR 2.0 genes in this pathway
REACTOME GLUCOSE TRANSPORT 38 29 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF RNA 330 155 All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF MRNA STABILITY BY PROTEINS THAT BIND AU RICH ELEMENTS 84 50 All SZGR 2.0 genes in this pathway
REACTOME INTERFERON SIGNALING 159 116 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF CARBOHYDRATES 247 154 All SZGR 2.0 genes in this pathway
REACTOME INFLUENZA LIFE CYCLE 203 72 All SZGR 2.0 genes in this pathway
REACTOME NEP NS2 INTERACTS WITH THE CELLULAR EXPORT MACHINERY 27 19 All SZGR 2.0 genes in this pathway
REACTOME HIV INFECTION 207 122 All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF RIBONUCLEOPROTEINS INTO THE HOST NUCLEUS 27 19 All SZGR 2.0 genes in this pathway
REACTOME HIV LIFE CYCLE 125 69 All SZGR 2.0 genes in this pathway
REACTOME HOST INTERACTIONS OF HIV FACTORS 132 81 All SZGR 2.0 genes in this pathway
REACTOME LATE PHASE OF HIV LIFE CYCLE 104 61 All SZGR 2.0 genes in this pathway
REACTOME INTERACTIONS OF VPR WITH HOST CELLULAR PROTEINS 33 21 All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF GLUCOKINASE BY GLUCOKINASE REGULATORY PROTEIN 27 19 All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933 616 All SZGR 2.0 genes in this pathway
REACTOME CYTOKINE SIGNALING IN IMMUNE SYSTEM 270 204 All SZGR 2.0 genes in this pathway
DEURIG T细胞PROLYMPHOCYTIC白血病 368 234 All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER ZNF217 AMPLIFIED DN 335 193 All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER 20Q13 AMPLIFICATION DN 180 101 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821 933 All SZGR 2.0 genes in this pathway
HAHTOLA MYCOSIS FUNGOIDES CD4 UP 64 46 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER WITH LOH IN CHR9Q 116 71 All SZGR 2.0 genes in this pathway
MYLLYKANGAS AMPLIFICATION HOT SPOT 8 18 7 All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 1652 1023 All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442 892 All SZGR 2.0 genes in this pathway
LENAOUR DENDRITIC CELL MATURATION DN 128 90 All SZGR 2.0 genes in this pathway
THEILGAARD NEUTROPHIL AT SKIN WOUND DN 225 163 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 1691 1088 All SZGR 2.0 genes in this pathway
SONG TARGETS OF IE86 CMV PROTEIN 60 42 All SZGR 2.0 genes in this pathway
WELCSH BRCA1 TARGETS DN 141 92 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911 527 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR UP 783 442 All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323 240 All SZGR 2.0 genes in this pathway
RAY TARGETS OF P210 BCR ABL FUSION UP 18 13 All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO CSF2RB AND IL4 DN 315 201 All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF DN 235 144 All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF VS CSF2RB AND IL4 UP 408 276 All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368 247 All SZGR 2.0 genes in this pathway
ACOSTA PROLIFERATION INDEPENDENT MYC TARGETS UP 84 51 All SZGR 2.0 genes in this pathway