NUP205 (nucleoporin 205)

Gene

• Entrez ID: 23165
• Gene name: Nucleoporin 205
• Gene symbol: NUP205
• Synonyms (NCBI Gene): C7orf14, NPHS13
• Chromosome: 7
• Chromosome location: 7q33
• Summary: This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs869312984	T>C	Pathogenic	Coding sequence variant, missense variant
rs1584675898	T>C	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050156	hsa-miR-26a-5p	CLASH	23622248
MIRT049025	hsa-miR-92a-3p	CLASH	23622248
MIRT048836	hsa-miR-93-5p	CLASH	23622248
MIRT047707	hsa-miR-10a-5p	CLASH	23622248
MIRT047707	hsa-miR-10a-5p	CLASH	23622248
MIRT046969	hsa-miR-221-3p	CLASH	23622248
MIRT046017	hsa-miR-125b-5p	CLASH	23622248
MIRT046017	hsa-miR-125b-5p	CLASH	23622248
MIRT039062	hsa-miR-769-3p	CLASH	23622248
MIRT039007	hsa-miR-766-3p	CLASH	23622248
MIRT724216	hsa-miR-8485	HITS-CLIP	19536157
MIRT724215	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT724214	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT724213	hsa-miR-603	HITS-CLIP	19536157
MIRT724212	hsa-miR-3680-5p	HITS-CLIP	19536157
MIRT724211	hsa-miR-3614-5p	HITS-CLIP	19536157
MIRT724210	hsa-miR-6500-3p	HITS-CLIP	19536157
MIRT724209	hsa-miR-3941	HITS-CLIP	19536157
MIRT724208	hsa-miR-5691	HITS-CLIP	19536157
MIRT724207	hsa-miR-6805-3p	HITS-CLIP	19536157
MIRT695650	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT695649	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT695648	hsa-miR-323a-3p	HITS-CLIP	23313552
MIRT695647	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT695646	hsa-miR-340-3p	HITS-CLIP	23313552
MIRT695645	hsa-miR-6827-3p	HITS-CLIP	23313552
MIRT695644	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT695643	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT695642	hsa-miR-3926	HITS-CLIP	23313552
MIRT695641	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT695640	hsa-miR-3672	HITS-CLIP	23313552
MIRT695639	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT683068	hsa-miR-6889-3p	HITS-CLIP	23706177
MIRT683066	hsa-miR-4252	HITS-CLIP	23706177
MIRT683067	hsa-miR-4755-3p	HITS-CLIP	23706177
MIRT683065	hsa-miR-5699-5p	HITS-CLIP	23706177
MIRT683064	hsa-miR-874-5p	HITS-CLIP	23706177
MIRT683063	hsa-miR-1227-3p	HITS-CLIP	23706177
MIRT683062	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT683061	hsa-miR-5006-5p	HITS-CLIP	23706177
MIRT447374	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447373	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT447372	hsa-miR-4496	PAR-CLIP	22100165
MIRT447371	hsa-miR-3148	PAR-CLIP	22100165
MIRT447370	hsa-miR-4775	PAR-CLIP	22100165
MIRT447369	hsa-miR-651-5p	PAR-CLIP	22100165
MIRT447368	hsa-miR-5009-5p	PAR-CLIP	22100165
MIRT724216	hsa-miR-8485	HITS-CLIP	19536157
MIRT724215	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT724214	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT724213	hsa-miR-603	HITS-CLIP	19536157
MIRT724212	hsa-miR-3680-5p	HITS-CLIP	19536157
MIRT724211	hsa-miR-3614-5p	HITS-CLIP	19536157
MIRT724210	hsa-miR-6500-3p	HITS-CLIP	19536157
MIRT724209	hsa-miR-3941	HITS-CLIP	19536157
MIRT724208	hsa-miR-5691	HITS-CLIP	19536157
MIRT724207	hsa-miR-6805-3p	HITS-CLIP	19536157
MIRT695650	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT695649	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT695648	hsa-miR-323a-3p	HITS-CLIP	23313552
MIRT695647	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT695646	hsa-miR-340-3p	HITS-CLIP	23313552
MIRT695645	hsa-miR-6827-3p	HITS-CLIP	23313552
MIRT695644	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT695643	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT695642	hsa-miR-3926	HITS-CLIP	23313552
MIRT695641	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT695640	hsa-miR-3672	HITS-CLIP	23313552
MIRT695639	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT683068	hsa-miR-6889-3p	HITS-CLIP	23706177
MIRT683066	hsa-miR-4252	HITS-CLIP	23706177
MIRT683067	hsa-miR-4755-3p	HITS-CLIP	23706177
MIRT683065	hsa-miR-5699-5p	HITS-CLIP	23706177
MIRT683064	hsa-miR-874-5p	HITS-CLIP	23706177
MIRT683063	hsa-miR-1227-3p	HITS-CLIP	23706177
MIRT683062	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT683061	hsa-miR-5006-5p	HITS-CLIP	23706177
MIRT447374	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447373	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT447372	hsa-miR-4496	PAR-CLIP	22100165
MIRT447371	hsa-miR-3148	PAR-CLIP	22100165
MIRT447370	hsa-miR-4775	PAR-CLIP	22100165
MIRT447369	hsa-miR-651-5p	PAR-CLIP	22100165
MIRT447368	hsa-miR-5009-5p	PAR-CLIP	22100165
MIRT1199140	hsa-miR-2964a-5p	CLIP-seq
MIRT1199141	hsa-miR-300	CLIP-seq
MIRT1199142	hsa-miR-3185	CLIP-seq
MIRT1199143	hsa-miR-381	CLIP-seq
MIRT1199144	hsa-miR-4271	CLIP-seq
MIRT1199145	hsa-miR-4666-3p	CLIP-seq
MIRT1199146	hsa-miR-4713-5p	CLIP-seq
MIRT1199147	hsa-miR-4725-3p	CLIP-seq
MIRT1199148	hsa-miR-4760-3p	CLIP-seq
MIRT1199149	hsa-miR-520d-5p	CLIP-seq
MIRT1199150	hsa-miR-524-5p	CLIP-seq
MIRT1199151	hsa-miR-548p	CLIP-seq
MIRT1199140	hsa-miR-2964a-5p	CLIP-seq
MIRT1199141	hsa-miR-300	CLIP-seq
MIRT1199143	hsa-miR-381	CLIP-seq
MIRT1199145	hsa-miR-4666-3p	CLIP-seq
MIRT1199148	hsa-miR-4760-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	9348540, 25210169, 26878725
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IDA	12802065, 15229283
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	9348540, 24315095
GO:0005829	Component	Cytosol	TAS
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0006913	Process	Nucleocytoplasmic transport	TAS	9348540
GO:0006999	Process	Nuclear pore organization	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IMP	15229283
GO:0031965	Component	Nuclear membrane	IDA	15229283
GO:0031965	Component	Nuclear membrane	IEA
GO:0034399	Component	Nuclear periphery	IDA	15229283
GO:0044611	Component	Nuclear pore inner ring	IBA
GO:0051028	Process	MRNA transport	IEA
GO:0051292	Process	Nuclear pore complex assembly	IMP	15229283

Other IDs

• MIM: 614352
• HGNC: 18658
• e!Ensembl: ENSG00000155561

Protein

• UniProt ID: Q92621
• Protein name: Nuclear pore complex protein Nup205 (205 kDa nucleoporin) (Nucleoporin Nup205)
• Protein function: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC (PubMed:15229283). In association with TMEM209, may be involved in nuclear t
• PDB: 5IJN, 5IJO, 7PER, 7R5J, 7R5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11894	Nup192	14 → 1684	Nuclear pore complex scaffold, nucleoporins 186/192/205	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the testis. {ECO:0000269|PubMed:22719065}.
• Sequence:

  MATPLAVNSAASLWGPYKDIWHKVGNALWRRQPEAVHLLDKILKKHKPDFISLFKNPPKN
  VQQHEKVQKASTEGVAIQGQQGTRLLPEQLIKEAFILSDLFDIGELAAVELLLAGEHQQP
  HFPGLTRGLVAVLLYWDGKRCIANSLKALIQSRRGKTWTLELSPELASMTTRFTDELMEQ
  GLTYKVLTLVSQIDVNNEFEKLQRERGLGSEKHRKEVSDLIKECRQSLAESLFAWACQSP
  LGKEDTLLLIGHLERVTVEANGSLDAVNLALLMALLYCFDISFIEQSTEERDDMIHQLPL
  LTEKQYIATIHSRLQDSQLWKLPGLQATVRLAWALALRGISQLPDVTALAEFTEADEAMA
  ELAIADNVFLFLMESVVVSEYFYQEEFYIRRVHNLITDFLALMPMKVKQLRNRADEDARM
  IHMSMQMGNEPPISLRRDLEHLMLLIGELYKKNPFHLELALEYWCPTEPLQTPTIMGSYL
  GVAHQRPPQRQVVLSKFVRQMGDLLPPTIYIPYLKMLQGLANGPQCAHYCFSLLKVNGSS
  HVENIQGAGGSPVSWEHFFHSLMLYHEHLRKDLPSADSVQYRHLPSRGITQKEQDGLIAF
  LQLTSTIITWSENARLALCEHPQWTPVVVILGLLQCSIPPVLKAELLKTLAAFGKSPEIA
  ASLWQSLEYTQILQTVRIPSQRQAIGIEVELNEIESRCEEYPLTRAFCQLISTLVESSFP
  SNLGAGLRPPGFDPYLQFLRDSVFLRFRTRAYRRAAEKWEVAEVVLEVFYKLLRDYEPQL
  EDFVDQFVELQGEEIIAYKPPGFSLMYHLLNESPMLELALSLLEEGVKQLDTYAPFPGKK
  HLEKAVQHCLALLNLTLQKENLFMDLLRESQLALIVCPLEQLLQGINPRTKKADNVVNIA
  RYLYHGNTNPELAFESAKILCCISCNSNIQIKLVGDFTHDQSISQKLMAGFVECLDCEDA
  EEFVRLEEGSELEKKLVAIRHETRIHILNLLITSLECNPPNLALYLLGFELKKPVSTTNL
  QDPGVLGCPRTCLHAILNILEKGTEGRTGPVAVRESPQLAELCYQVIYQLCACSDTSGPT
  MRYLRTSQDFLFSQLQYLPFSNKEYEISMLNQMSWLMKTASIELRVTSLNRQRSHTQRLL
  HLLLDDMPVKPYSDGEGGIEDENRSVSGFLHFDTATKVRRKILNILDSIDFSQEIPEPLQ
  LDFFDRAQIEQVIANCEHKNLRGQTVCNVKLLHRVLVAEVNALQGMAAIGQRPLLMEEIS
  TVLQYVVGRNKLLQCLHAKRHALESWRQLVEIILTACPQDLIQAEDRQLIIRDILQDVHD
  KILDDEAAQELMPVVAGAVFTLTAHLSQAVLTEQKETSVLGPAEAHYAFMLDSCFTSPPP
  EENPLVGFASIGDSSLYIILKKLLDFILKTGGGFQRVRTHLYGSLLYYLQIAQRPDEPDT
  LEAAKKTMWERLTAPEDVFSKLQRENIAIIESYGAALMEVVCRDACDGHEIGRMLALALL
  DRIVSVDKQQQWLLYLSNSGYLKVLVDSLVEDDRTLQSLLTPQPPLLKALYTYESKMAFL
  TRVAKIQQGALELLRSGVIVRLAQCQVYDMRPETDPQSMFGMRDPPMFIPTPVDRYRQIL
  LPALQLCQVILTSSMAQHLQAAGQVLQFLISHSDTIQAILRCQDVSAGSLQELALLTGII
  SKAALPGILSELDVDVNEGSLMELQGHIGRFQRQCLGLLSRFGGSDRLRQFKFQDDNVEG
  DKVSKKDEIELAMQQICANVMEYCQSLMLQSSPTFQHAVCLFTPSLSETVNRDGPRQDTQ
  APVVPYWRLPGLGIIIYLLKQSANDFFSYYDSHRQSVSKLQNVEQLPPDEIKELCQSVMP
  AGVDKISTAQKYVLARRRLVKVINNRAKLLSLCSFIIETCLFILWRHLEYYLLHCMPTDS
  QDSLFASRTLFKSRRLQDSFASETNLDFRSGLAIVSQHDLDQLQADAINAFGESLQKKLL
  DIEGLYSKVRSRYSFIQALVRRIRGLLRISRN

• Sequence length: 2012

Pathways

KEGG:

Nucleocytoplasmic transport
Amyotrophic lateral sclerosis

Reactome:

ISG15 antiviral mechanism
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
tRNA processing in the nucleus
HCMV Early Events
HCMV Late Events
Postmitotic nuclear pore complex (NPC) reformation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Nephrotic syndrome, type 13	Pathogenic; Likely pathogenic	rs869312984, rs1584675898	RCV000210736 RCV000995822

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs61459701, rs12539427	RCV005919470 RCV005920826
Cervical cancer	Benign	rs73452466, rs61459701	RCV005915294 RCV005919473
Cholangiocarcinoma	Benign	rs61459701	RCV005919482
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs61459701, rs12539427	RCV005919483 RCV005920833
Clear cell carcinoma of kidney	Uncertain significance	rs200592613	RCV005932648
Colon adenocarcinoma	Benign	rs61459701	RCV005919469
Familial cancer of breast	Benign	rs61459701	RCV005919468
Familial pancreatic carcinoma	Benign; Likely benign	rs61459701, rs12539427	RCV005919475 RCV005920830
Gastric cancer	Benign; Likely benign	rs74594925, rs61459701, rs141632326	RCV005914811 RCV005919478 RCV005934840
Hepatocellular carcinoma	Benign; Likely benign	rs74594925, rs61459701, rs10252250, rs12539427, rs186754456, rs150977215	RCV005914808 RCV005919471 RCV005922962 RCV005920827 RCV005931540 RCV005933507
Lymphoma	Benign	rs61459701	RCV005919479
Malignant lymphoma, large B-cell, diffuse	Benign	rs61459701	RCV005919476
Malignant tumor of esophagus	Benign; Likely benign	rs78466029, rs74594925, rs61459701, rs115498909, rs12539427	RCV005911362 RCV005914809 RCV005919472 RCV005921771 RCV005920828
Marfanoid habitus and intellectual disability	Uncertain significance	rs778448630, rs766483323	RCV000850474 RCV000850433
Melanoma	Benign	rs61459701	RCV005919481
NUP205-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs201214950, rs148613242, rs370441308, rs145434488, rs73158973, rs146549921, rs146225677, rs376170020, rs147285807, rs146516345, rs144797408, rs766522861, rs150542529, rs545639998, rs756027118, rs765594293, rs1334642342, rs147068109, rs751139668, rs758375178, rs2486106985, rs753066141, rs150977215, rs766347234, rs2486177221, rs557946010, rs767733186, rs148624313, rs78254699, rs146766044, rs11550519, rs6955556	RCV003948847 RCV003978458 RCV003933688 RCV004757526 RCV003913780 RCV003963582 RCV003961154 RCV003906347 RCV003926546 RCV003906308 RCV003954201 RCV003901191 RCV003919301 RCV003896956 RCV003894710 RCV003893644 RCV003904514 RCV003899359 RCV003909818 RCV003944588 RCV003947382 RCV003954914 RCV003971953 RCV003956879 RCV003946785 RCV003969650 RCV003962278 RCV003960750 RCV003926144 RCV003920561 RCV003910798 RCV003933176
Ovarian cancer	Benign; Likely benign	rs74594925, rs61459701, rs12539427	RCV005914810 RCV005919474 RCV005920829
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs115498909, rs150977215	RCV005921773 RCV005933508
Sarcoma	Benign; Likely benign	rs61459701, rs115575362, rs12539427	RCV005919477 RCV005920881 RCV005920831
Thymoma	Benign; Likely benign	rs61459701, rs115498909, rs112100567, rs12539427	RCV005919480 RCV005921774 RCV005920878 RCV005920832
Uterine corpus endometrial carcinoma	Benign	rs73452466, rs115498909	RCV005915295 RCV005921775
Uveal melanoma	Benign	rs115498909	RCV005921772

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	35355568
Bicuspid Aortic Valve Disease	Associate	36071494
Carcinoma Non Small Cell Lung	Associate	34299277
Disease	Associate	24625750
Glomerulosclerosis Focal Segmental	Associate	37565816
Leukemia Myeloid Acute	Associate	31298340
Lumbar Stenosis Familial	Associate	34020649
Nasopharyngeal Carcinoma	Associate	32964975
Osteitis Deformans	Associate	21623375, 30705363, 35355568
Thyroid Cancer Papillary	Associate	33107391