Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23511
Gene name	Nucleoporin 188
Gene symbol	NUP188
Synonyms (NCBI Gene)	KIAA0169SANDSTEFhNup188
Chromosome	9
Chromosome location	9q34.11
Summary	The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleo

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1588269590	->A	Pathogenic	Coding sequence variant, stop gained
rs1588270041	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained

108

Show/Hide all (108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050586	hsa-miR-20a-5p	CLASH	23622248
MIRT049874	hsa-miR-31-5p	CLASH	23622248
MIRT048851	hsa-miR-93-5p	CLASH	23622248
MIRT043097	hsa-miR-324-5p	CLASH	23622248
MIRT572727	hsa-miR-1183	PAR-CLIP	20371350
MIRT572726	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT572725	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT572724	hsa-miR-4752	PAR-CLIP	20371350
MIRT572727	hsa-miR-1183	PAR-CLIP	20371350
MIRT572726	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT572725	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT572724	hsa-miR-4752	PAR-CLIP	20371350
MIRT1199108	hsa-miR-1202	CLIP-seq
MIRT1199109	hsa-miR-1224-5p	CLIP-seq
MIRT1199110	hsa-miR-1267	CLIP-seq
MIRT1199111	hsa-miR-136	CLIP-seq
MIRT1199112	hsa-miR-15a	CLIP-seq
MIRT1199113	hsa-miR-15b	CLIP-seq
MIRT1199114	hsa-miR-16	CLIP-seq
MIRT1199115	hsa-miR-192	CLIP-seq
MIRT1199116	hsa-miR-195	CLIP-seq
MIRT1199117	hsa-miR-215	CLIP-seq
MIRT1199118	hsa-miR-3065-3p	CLIP-seq
MIRT1199119	hsa-miR-3194-5p	CLIP-seq
MIRT1199120	hsa-miR-325	CLIP-seq
MIRT1199121	hsa-miR-3663-3p	CLIP-seq
MIRT1199122	hsa-miR-370	CLIP-seq
MIRT1199123	hsa-miR-3972	CLIP-seq
MIRT1199124	hsa-miR-424	CLIP-seq
MIRT1199125	hsa-miR-4290	CLIP-seq
MIRT1199126	hsa-miR-4432	CLIP-seq
MIRT1199127	hsa-miR-4524	CLIP-seq
MIRT1199128	hsa-miR-4530	CLIP-seq
MIRT1199129	hsa-miR-4638-5p	CLIP-seq
MIRT1199130	hsa-miR-4722-3p	CLIP-seq
MIRT1199131	hsa-miR-4747-3p	CLIP-seq
MIRT1199132	hsa-miR-4751	CLIP-seq
MIRT1199133	hsa-miR-4763-5p	CLIP-seq
MIRT1199134	hsa-miR-492	CLIP-seq
MIRT1199135	hsa-miR-497	CLIP-seq
MIRT1199136	hsa-miR-503	CLIP-seq
MIRT1199137	hsa-miR-568	CLIP-seq
MIRT1199138	hsa-miR-628-3p	CLIP-seq
MIRT1199139	hsa-miR-646	CLIP-seq
MIRT2057724	hsa-miR-1204	CLIP-seq
MIRT2057725	hsa-miR-1289	CLIP-seq
MIRT2057726	hsa-miR-1293	CLIP-seq
MIRT2057727	hsa-miR-3135b	CLIP-seq
MIRT2057728	hsa-miR-3198	CLIP-seq
MIRT2057729	hsa-miR-3652	CLIP-seq
MIRT2057730	hsa-miR-4294	CLIP-seq
MIRT2057731	hsa-miR-4309	CLIP-seq
MIRT2057732	hsa-miR-4430	CLIP-seq
MIRT2057733	hsa-miR-4440	CLIP-seq
MIRT2057734	hsa-miR-4483	CLIP-seq
MIRT2057735	hsa-miR-4505	CLIP-seq
MIRT2057736	hsa-miR-4697-3p	CLIP-seq
MIRT1199137	hsa-miR-568	CLIP-seq
MIRT1199108	hsa-miR-1202	CLIP-seq
MIRT1199119	hsa-miR-3194-5p	CLIP-seq
MIRT2286097	hsa-miR-3929	CLIP-seq
MIRT1199123	hsa-miR-3972	CLIP-seq
MIRT2286098	hsa-miR-4280	CLIP-seq
MIRT2286099	hsa-miR-4419b	CLIP-seq
MIRT2286100	hsa-miR-4478	CLIP-seq
MIRT2584003	hsa-miR-1233	CLIP-seq
MIRT2584004	hsa-miR-153	CLIP-seq
MIRT2584005	hsa-miR-1587	CLIP-seq
MIRT2584006	hsa-miR-1973	CLIP-seq
MIRT2584007	hsa-miR-331-3p	CLIP-seq
MIRT2584008	hsa-miR-34a	CLIP-seq
MIRT2584009	hsa-miR-34c-5p	CLIP-seq
MIRT2584010	hsa-miR-378g	CLIP-seq
MIRT2584011	hsa-miR-4492	CLIP-seq
MIRT2584012	hsa-miR-4498	CLIP-seq
MIRT2584013	hsa-miR-449a	CLIP-seq
MIRT2584014	hsa-miR-449b	CLIP-seq
MIRT2584015	hsa-miR-4632	CLIP-seq
MIRT2584016	hsa-miR-4656	CLIP-seq
MIRT2584017	hsa-miR-4675	CLIP-seq
MIRT2584018	hsa-miR-4687-5p	CLIP-seq
MIRT2584019	hsa-miR-4731-5p	CLIP-seq
MIRT2584020	hsa-miR-4741	CLIP-seq
MIRT2584021	hsa-miR-4743	CLIP-seq
MIRT2584022	hsa-miR-517b	CLIP-seq
MIRT2584023	hsa-miR-762	CLIP-seq
MIRT2584003	hsa-miR-1233	CLIP-seq
MIRT2584004	hsa-miR-153	CLIP-seq
MIRT2584005	hsa-miR-1587	CLIP-seq
MIRT2584006	hsa-miR-1973	CLIP-seq
MIRT2584007	hsa-miR-331-3p	CLIP-seq
MIRT2584008	hsa-miR-34a	CLIP-seq
MIRT2584009	hsa-miR-34c-5p	CLIP-seq
MIRT2584010	hsa-miR-378g	CLIP-seq
MIRT2584011	hsa-miR-4492	CLIP-seq
MIRT2584012	hsa-miR-4498	CLIP-seq
MIRT2584013	hsa-miR-449a	CLIP-seq
MIRT2584014	hsa-miR-449b	CLIP-seq
MIRT2584015	hsa-miR-4632	CLIP-seq
MIRT2584016	hsa-miR-4656	CLIP-seq
MIRT2584017	hsa-miR-4675	CLIP-seq
MIRT2584018	hsa-miR-4687-5p	CLIP-seq
MIRT2584019	hsa-miR-4731-5p	CLIP-seq
MIRT2584020	hsa-miR-4741	CLIP-seq
MIRT2584021	hsa-miR-4743	CLIP-seq
MIRT2686712	hsa-miR-512-3p	CLIP-seq
MIRT2584022	hsa-miR-517b	CLIP-seq
MIRT2584023	hsa-miR-762	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005829	Component	Cytosol	TAS
GO:0006405	Process	RNA export from nucleus	IBA
GO:0006606	Process	Protein import into nucleus	IBA
GO:0006606	Process	Protein import into nucleus	IMP	32275884
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IEA
GO:0044611	Component	Nuclear pore inner ring	IBA
GO:0051028	Process	MRNA transport	IEA

MIM	HGNC	e!Ensembl
615587	17859	ENSG00000095319

Q5SRE5

Protein name

Nucleoporin NUP188 (hNup188)

Protein function

Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope (Probable). Required for proper protein transport into the nucleus (PubMed:32275884). {ECO:0000269|PubMed:32275884, ECO:0000305|PubMe

PDB

5IJO , 7R5J , 7R5K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10487	Nup188	31 → 941	Nucleoporin subcomplex protein binding to Pom34	Family

Sequence

MAAAAGGPCVRSSRELWTILLGRSALRELSQIEAELNKHWRRLLEGLSYYKPPSPSSAEK
VKANKDVASPLKELGLRISKFLGLDEEQSVQLLQCYLQEDYRGTRDSVKTVLQDERQSQA
LILKIADYYYEERTCILRCVLHLLTYFQDERHPYRVEYADCVDKLEKELVSKYRQQFEEL
YKTEAPTWETHGNLMTERQVSRWFVQCLREQSMLLEIIFLYYAYFEMAPSDLLVLTKMFK
EQGFGSRQTNRHLVDETMDPFVDRIGYFSALILVEGMDIESLHKCALDDRRELHQFAQDG
LICQDMDCLMLTFGDIPHHAPVLLAWALLRHTLNPEETSSVVRKIGGTAIQLNVFQYLTR
LLQSLASGGNDCTTSTACMCVYGLLSFVLTSLELHTLGNQQDIIDTACEVLADPSLPELF
WGTEPTSGLGIILDSVCGMFPHLLSPLLQLLRALVSGKSTAKKVYSFLDKMSFYNELYKH
KPHDVISHEDGTLWRRQTPKLLYPLGGQTNLRIPQGTVGQVMLDDRAYLVRWEYSYSSWT
LFTCEIEMLLHVVSTADVIQHCQRVKPIIDLVHKVISTDLSIADCLLPITSRIYMLLQRL
TTVISPPVDVIASCVNCLTVLAARNPAKVWTDLRHTGFLPFVAHPVSSLSQMISAEGMNA
GGYGNLLMNSEQPQGEYGVTIAFLRLITTLVKGQLGSTQSQGLVPCVMFVLKEMLPSYHK
WRYNSHGVREQIGCLILELIHAILNLCHETDLHSSHTPSLQFLCICSLAYTEAGQTVINI
MGIGVDTIDMVMAAQPRSDGAEGQGQGQLLIKTVKLAFSVTNNVIRLKPPSNVVSPLEQA
LSQHGAHGNNLIAVLAKYIYHKHDPALPRLAIQLLKRLATVAPMSVYACLGNDAAAIRDA
FLTRLQSKIEDMRIKVMILEFLTVAVETQPGLIELFLNLEVKDGSDGSKEFSLGMWSCLH
AVLELIDSQQQDRYWCPPLLHRAAIAFLHALWQDRRDSAMLVLRTKPKFWENLTSPLFGT
LSPPSETSEPSILETCALIMKIICLEIYYVVKGSLDQSLKDTLKKFSIEKRFAYWSGYVK
SLAVHVAETEGSSCTSLLEYQMLVSAWRMLLIIATTHADIMHLTDSVVRRQLFLDVLDGT
KALLLVPASVNCLRLGSMKCTLLLILLRQWKRELGSVDEILGPLTEILEGVLQADQQLME
KTKAKVFSAFITVLQMKEMKVSDIPQYSQLVLNVCETLQEEVIALFDQTRHSLALGSATE
DKDSMETDDCSRSRHRDQRDGVCVLGLHLAKELCEVDEDGDSWLQVTRRLPILPTLLTTL
EVSLRMKQNLHFTEATLHLLLTLARTQQGATAVAGAGITQSICLPLLSVYQLSTNGTAQT
PSASRKSLDAPSWPGVYRLSMSLMEQLLKTLRYNFLPEALDFVGVHQERTLQCLNAVRTV
QSLACLEEADHTVGFILQLSNFMKEWHFHLPQLMRDIQVNLGYLCQACTSLLHSRKMLQH
YLQNKNGDGLPSAVAQRVQRPPSAASAAPSSSKQPAADTEASEQQALHTVQYGLLKILSK
TLAALRHFTPDVCQILLDQSLDLAEYNFLFALSFTTPTFDSEVAPSFGTLLATVNVALNM
LGELDKKKEPLTQAVGLSTQAEGTRTLKSLLMFTMENCFYLLISQAMRYLRDPAVHPRDK
QRMKQELSSELSTLLSSLSRYFRRGAPSSPATGVLPSPQGKSTSLSKASPESQEPLIQLV
QAFVRHMQR

Sequence length

1749

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport Amyotrophic lateral sclerosis		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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephaly	Likely pathogenic	rs2131167421, rs2131186551	RCV001526560 RCV001526559	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NUP188-related disorder	Pathogenic	rs780228848	RCV004756187	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sandestig-stefanova syndrome	Likely pathogenic; Pathogenic	rs2131167421, rs2131186551, rs2492120046, rs1588270041, rs780594725, rs780228848, rs1452146532, rs1842286098, rs1842678057	RCV003151862 RCV003151861 RCV003235772 RCV001007636 RCV001175257 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Coronary heart disease	Coronary Heart Disease	BEFREE	27593162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	32211895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	27593162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	37358014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33545950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NUP188 (nucleoporin 188)