• Gene id: 8021

Gene Summary

• Gene Symbol: NUP214   Gene   UCSC   Ensembl
• Aliases: CAIN, CAN, IIAE9
• Gene name: nucleoporin 214
• Alternate names: nuclear pore complex protein Nup214, CAN protein, putative oncogene, nucleoporin 214kDa,
• Gene location: 9q34.13 (131125585: 131234662)     Exons: 37     NC_000009.12
• Gene summary(Entrez): The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex i
• OMIM: 611646

SNPs

rs1131692266

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104225491G>T
NC_000010.10   g.105985249G>T
NG_051581.1   g.11887C>A
NM_025145.6   c.386C>A
NM_025145.5   c.386C>A
XM_005270172.3   c.386C>A
XM_005270172.1   c.386C>A
XM_011540196.2   c.386C>A
XM_011540197.2   c.386C>A
XM_005270171.2   c.386C>A
XM_005270  

rs768831533

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104143452G>A
NC_000010.11   g.104143452G>C
NC_000010.11   g.104143452G>T
NC_000010.10   g.105903210G>A
NC_000010.10   g.105903210G>C
NC_000010.10   g.105903210G>T
NG_051581.1   g.93926C>T
NG_051581.1   g.93926C>G
NG_051581.1   g.93926C>A
NM_025145.6   c

rs376788209

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104230656G>A
NC_000010.10   g.105990414G>A
NG_051581.1   g.6722C>T
NM_025145.6   c.253C>T
NM_025145.5   c.253C>T
XM_005270172.3   c.253C>T
XM_005270172.1   c.253C>T
XM_011540196.2   c.253C>T
XM_011540197.2   c.253C>T
XM_005270171.2   c.253C>T
XM_0052701  

rs373911488

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104167627A>G
NC_000010.11   g.104167627A>T
NC_000010.10   g.105927385A>G
NC_000010.10   g.105927385A>T
NG_051581.1   g.69751T>C
NG_051581.1   g.69751T>A
NM_025145.6   c.2802T>C
NM_025145.6   c.2802T>A
NM_025145.5   c.2802T>C
NM_025145.5   c.2802T>A
XM_0  

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

Protein Summary

• Protein general information: P35658  
  • Name: Nuclear pore complex protein Nup214 (214 kDa nucleoporin) (Nucleoporin Nup214) (Protein CAN)
  • Length: 2090  
  • Mass: 213620
  • Tissue specificity: Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development.
• Sequence:

  MGDEMDAMIPEREMKDFQFRALKKVRIFDSPEELPKERSSLLAVSNKYGLVFAGGASGLQIFPTKNLLIQNKPGD
  DPNKIVDKVQGLLVPMKFPIHHLALSCDNLTLSACMMSSEYGSIIAFFDVRTFSNEAKQQKRPFAYHKLLKDAGG
  MVIDMKWNPTVPSMVAVCLADGSIAVLQVTETVKVCATLPSTVAVTSVCWSPKGKQLAVGKQNGTVVQYLPTLQE
  KKVIPCPPFYESDHPVRVLDVLWIGTYVFAIVYAAADGTLETSPDVVMALLPKKEEKHPEIFVNFMEPCYGSCTE
  RQHHYYLSYIEEWDLVLAASAASTEVSILARQSDQINWESWLLEDSSRAELPVTDKSDDSLPMGVVVDYTNQVEI
  TISDEKTLPPAPVLMLLSTDGVLCPFYMINQNPGVKSLIKTPERLSLEGERQPKSPGSTPTTPTSSQAPQKLDAS
  AAAAPASLPPSSPAAPIATFSLLPAGGAPTVFSFGSSSLKSSATVTGEPPSYSSGSDSSKAAPGPGPSTFSFVPP
  SKASLAPTPAASPVAPSAASFSFGSSGFKPTLESTPVPSVSAPNIAMKPSFPPSTSAVKVNLSEKFTAAATSTPV
  SSSQSAPPMSPFSSASKPAASGPLSHPTPLSAPPSSVPLKSSVLPSPSGRSAQGSSSPVPSMVQKSPRITPPAAK
  PGSPQAKSLQPAVAEKQGHQWKDSDPVMAGIGEEIAHFQKELEELKARTSKACFQVGTSEEMKMLRTESDDLHTF
  LLEIKETTESLHGDISSLKTTLLEGFAGVEEAREQNERNRDSGYLHLLYKRPLDPKSEAQLQEIRRLHQYVKFAV
  QDVNDVLDLEWDQHLEQKKKQRHLLVPERETLFNTLANNREIINQQRKRLNHLVDSLQQLRLYKQTSLWSLSSAV
  PSQSSIHSFDSDLESLCNALLKTTIESHTKSLPKVPAKLSPMKQAQLRNFLAKRKTPPVRSTAPASLSRSAFLSQ
  RYYEDLDEVSSTSSVSQSLESEDARTSCKDDEAVVQAPRHAPVVRTPSIQPSLLPHAAPFAKSHLVHGSSPGVMG
  TSVATSASKIIPQGADSTMLATKTVKHGAPSPSHPISAPQAAAAAALRRQMASQAPAVNTLTESTLKNVPQVVNV
  QELKNNPATPSTAMGSSVPYSTAKTPHPVLTPVAANQAKQGSLINSLKPSGPTPASGQLSSGDKASGTAKIETAV
  TSTPSASGQFSKPFSFSPSGTGFNFGIITPTPSSNFTAAQGATPSTKESSQPDAFSSGGGSKPSYEAIPESSPPS
  GITSASNTTPGEPAASSSRPVAPSGTALSTTSSKLETPPSKLGELLFPSSLAGETLGSFSGLRVGQADDSTKPTN
  KASSTSLTSTQPTKTSGVPSGFNFTAPPVLGKHTEPPVTSSATTTSVAPPAATSTSSTAVFGSLPVTSAGSSGVI
  SFGGTSLSAGKTSFSFGSQQTNSTVPPSAPPPTTAATPLPTSFPTLSFGSLLSSATTPSLPMSAGRSTEEATSSA
  LPEKPGDSEVSASAASLLEEQQSAQLPQAPPQTSDSVKKEPVLAQPAVSNSGTAASSTSLVALSAEATPATTGVP
  DARTEAVPPASSFSVPGQTAVTAAAISSAGPVAVETSSTPIASSTTSIVAPGPSAEAAAFGTVTSGSSVFAQPPA
  ASSSSAFNQLTNNTATAPSATPVFGQVAASTAPSLFGQQTGSTASTAAATPQVSSSGFSSPAFGTTAPGVFGQTT
  FGQASVFGQSASSAASVFSFSQPGFSSVPAFGQPASSTPTSTSGSVFGAASSTSSSSSFSFGQSSPNTGGGLFGQ
  SNAPAFGQSPGFGQGGSVFGGTSAATTTAATSGFSFCQASGFGSSNTGSVFGQAASTGGIVFGQQSSSSSGSVFG
  SGNTGRGGGFFSGLGGKPSQDAANKNPFSSASGGFGSTATSNTSNLFGNSGAKTFGGFASSSFGEQKPTGTFSSG
  GGSVASQGFGFSSPNKTGGFGAAPVFGSPPTFGGSPGFGGVPAFGSAPAFTSPLGSTGGKVFGEGTAAASAGGFG
  FGSSSNTTSFGTLASQNAPTFGSLSQQTSGFGTQSSGFSGFGSGTGGFSFGSNNSSVQGFGGWRS

• Structural information:
  • Interpro: IPR026054  IPR041553  IPR015943  IPR001680  
  • PDB: 2OIT 3FHC 3FMO 3FMP 5DIS
  • PDBsum: 2OIT 3FHC 3FMO 3FMP 5DIS
  • DIP: 38367
  • STRING: ENSP00000352400
• Other Databases: GeneCards:  NUP214  Malacards:  NUP214

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017056	structural constituent of nuclear pore	IBA	molecular function
GO:0008139	nuclear localization sequence binding	IBA	molecular function
GO:0006405	RNA export from nucleus	IBA	biological process
GO:0005643	nuclear pore	IBA	cellular component
GO:0006606	protein import into nucleus	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005643	nuclear pore	IEA	cellular component
GO:0051028	mRNA transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0006611	protein export from nucleus	IMP	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006409	tRNA export from nucleus	TAS	biological process
GO:0016032	viral process	TAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0060964	regulation of gene silencing by miRNA	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006110	regulation of glycolytic process	TAS	biological process
GO:0019083	viral transcription	TAS	biological process
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0075733	intracellular transport of virus	TAS	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0017056	structural constituent of nuclear pore	IEA	molecular function
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0008139	nuclear localization sequence binding	IEA	molecular function
GO:0006406	mRNA export from nucleus	IEA	biological process
GO:0006606	protein import into nucleus	IEA	biological process
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005643	nuclear pore	IEA	cellular component
GO:1990876	cytoplasmic side of nuclear pore	IDA	cellular component
GO:0005049	nuclear export signal receptor activity	IDA	molecular function
GO:0043657	host cell	IEA	cellular component
GO:0046822	regulation of nucleocytoplasmic transport	IMP	biological process
GO:0006406	mRNA export from nucleus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R