NUP210

Summary

NUP210 (nucleoporin 210, HGNC:30052) is a protein-coding gene on chromosome 3p25.1, encoding Nuclear pore membrane glycoprotein 210 (Q8TEM1). Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity.

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 in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3.

Source: NCBI Gene 23225 — RefSeq curated summary.

At a glance

• Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 380 total
• Druggable target: yes
• MANE Select transcript: NM_024923

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30052
Approved symbol	NUP210
Name	nucleoporin 210
Location	3p25.1
Locus type	gene with protein product
Status	Approved
Aliases	GP210, POM210, FLJ22389, KIAA0906
Ensembl gene	ENSG00000132182
Ensembl biotype	protein_coding
OMIM	607703
Entrez	23225

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 8 protein_coding, 5 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000254508, ENST00000420141, ENST00000479519, ENST00000485755, ENST00000695489, ENST00000695490, ENST00000695491, ENST00000695492, ENST00000916950, ENST00000916951, ENST00000916952, ENST00000916953, ENST00000916954, ENST00000916955, ENST00000916956

RefSeq mRNA: 1 — MANE Select: NM_024923 NM_024923

CCDS: CCDS33704

Canonical transcript exons

ENST00000254508 — 40 exons

Exon	Start	End
ENSE00001017492	13319072	13319155
ENSE00001017493	13319763	13319979
ENSE00001017497	13323309	13323432
ENSE00001017498	13321585	13321835
ENSE00001017500	13322193	13322339
ENSE00001017502	13319230	13319325
ENSE00001075358	13327217	13327437
ENSE00001075362	13328771	13328946
ENSE00001075365	13336787	13336918
ENSE00001075375	13341996	13342123
ENSE00001075380	13335454	13335612
ENSE00001075381	13332293	13332384
ENSE00001075385	13341748	13341883
ENSE00001075387	13330460	13330634
ENSE00001075395	13340236	13340298
ENSE00001133484	13343175	13343303
ENSE00001212317	13325795	13325931
ENSE00001212500	13351879	13351980
ENSE00001212523	13316235	13317781
ENSE00001676504	13337837	13337917
ENSE00003468263	13377456	13377562
ENSE00003506003	13399725	13399861
ENSE00003507502	13358222	13358395
ENSE00003507798	13420060	13420322
ENSE00003518382	13376291	13376431
ENSE00003533658	13339854	13340033
ENSE00003533667	13352080	13352184
ENSE00003543418	13378912	13378980
ENSE00003552584	13379563	13379721
ENSE00003554345	13353554	13353660
ENSE00003561591	13373718	13373873
ENSE00003568643	13353915	13354107
ENSE00003591980	13360270	13360491
ENSE00003628782	13391211	13391307
ENSE00003629371	13375504	13375641
ENSE00003647601	13365946	13366091
ENSE00003648917	13397357	13397488
ENSE00003650605	13388303	13388453
ENSE00003662852	13386275	13386407
ENSE00003664236	13371834	13372032

Expression profiles

Bgee: expression breadth ubiquitous, 230 present calls, max score 95.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.2131 / max 462.5095, expressed in 1155 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
41188	11.9570	1126
41189	2.8755	885
41190	0.3805	198

Top tissues by expression

274 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endometrium epithelium	UBERON:0004811	95.91	gold quality
granulocyte	CL:0000094	95.48	gold quality
lymph node	UBERON:0000029	91.23	gold quality
bone marrow cell	CL:0002092	90.95	gold quality
buccal mucosa cell	CL:0002336	90.62	silver quality
thymus	UBERON:0002370	89.05	gold quality
spleen	UBERON:0002106	88.90	gold quality
leukocyte	CL:0000738	88.35	gold quality
blood	UBERON:0000178	88.34	gold quality
vermiform appendix	UBERON:0001154	88.31	gold quality
parotid gland	UBERON:0001831	87.85	silver quality
mononuclear cell	CL:0000842	87.79	gold quality
monocyte	CL:0000576	87.74	gold quality
bone marrow	UBERON:0002371	87.42	gold quality
caecum	UBERON:0001153	86.95	gold quality
trabecular bone tissue	UBERON:0002483	86.71	gold quality
ventricular zone	UBERON:0003053	85.47	gold quality
right lobe of liver	UBERON:0001114	85.20	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.58	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.03	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.95	gold quality
cerebellar hemisphere	UBERON:0002245	82.50	gold quality
cerebellar cortex	UBERON:0002129	82.41	gold quality
tonsil	UBERON:0002372	82.20	gold quality
pituitary gland	UBERON:0000007	82.16	gold quality
cerebellum	UBERON:0002037	82.00	gold quality
pylorus	UBERON:0001166	81.17	gold quality
small intestine	UBERON:0002108	81.03	gold quality
adenohypophysis	UBERON:0002196	80.87	gold quality
secondary oocyte	CL:0000655	80.49	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.06
E-MTAB-6678	yes	4.78

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): WT1

miRNA regulators (miRDB)

78 targeting NUP210, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-24-3P	99.59	69.97	1934

Literature-anchored findings (GeneRIF, showing 14)

• solution structure of the C-terminal domain (PMID:12653556)
• gp210 plays critical roles at the nuclear membrane (PMID:14517331)
• WT1 is probably not regulating GP210 expression, in spite of binding sites for WT1 (PMID:15613247)
• Quantitation of serusm anti-gp210-C-terminal peptide antibodies is useful for monitoring the effect of ursodeoxycholic acid and for the early identification of patients at high risk for end-stage hepatic failure. (PMID:15710222)
• The increased expression of gp210 in small bile ducts is possibly involved in autoimmune response to gp210 leading to the progression to end-stage hepatic failure in primary biliary cirrhosis . (PMID:16337775)
• Double knockdowns of gp210 in HeLa cells suggest that nuclear pore complexes can assemble or at least persist in a gp210-free form. (PMID:16702234)
• Nucleoporin GP210 is involved in endometriosis. Rs354476 polymorphism affects the regulation of NUP210 gene expression by altering the binding with hsa-miR-125b-5p, a microRNA already known as playing an important role for endometriosis. This provides the rationale for the observed increased risk of endometriosis in carriers of the variant allele. (PMID:31256999)
• NUP205 and NUP210 mutations are associated with defects in cardiac patterning. (PMID:31306055)
• Primary biliary cholangitis-specific Gp120 antibodies are optimal predictors of primary biliary cholangitis prognosis at the time of diagnosis. (PMID:31737133)
• miR-22-regulated expression of NUP210 could alter Fas expression and, in turn, elicit cell cycle arrest and proliferation. (PMID:32390360)
• Nucleoporin 210 Serves a Key Scaffold for SMARCB1 in Liver Cancer. (PMID:33239431)
• Nuclear pore protein NUP210 depletion suppresses metastasis through heterochromatin-mediated disruption of tumor cell mechanical response. (PMID:34903738)
• Discovery of a Novel Aminocyclopropenone Compound That Inhibits BRD4-Driven Nucleoporin NUP210 Expression and Attenuates Colorectal Cancer Growth. (PMID:35159127)
• Bioinformatics analysis of the expression and clinical significance of the NUP210 Gene in acute myeloid leukaemia. (PMID:35413221)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nup210	ENSDARG00000063333
mus_musculus	Nup210	ENSMUSG00000030091
rattus_norvegicus	Nup210	ENSRNOG00000005390
drosophila_melanogaster	Gp210	FBGN0266580
caenorhabditis_elegans	npp-12	WBGENE00003798

Paralogs (1): NUP210L (ENSG00000143552)

Protein

Protein identifiers

Nuclear pore membrane glycoprotein 210 — Q8TEM1 (reviewed: Q8TEM1)

Alternative names: Nuclear envelope pore membrane protein POM 210, Nucleoporin Nup210, Pore membrane protein of 210 kDa

All UniProt accessions (2): Q8TEM1, A0A8Q3WKI1

UniProt curated annotations — full annotation on UniProt →

Function. Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity.

Subunit / interactions. Forms dimers and possibly higher-order oligomers.

Subcellular location. Nucleus. Nuclear pore complex. Nucleus membrane. Endoplasmic reticulum membrane.

Tissue specificity. Ubiquitous expression, with highest levels in lung, liver, pancreas, testis, and ovary, intermediate levels in brain, kidney, and spleen, and lowest levels in heart and skeletal muscle.

Post-translational modifications. N-glycosylated, but not all potential glycosylation sites may be used. Contains high-mannose type oligosaccharides. Phosphorylated at Ser-1881 in mitosis specifically; not phosphorylated in interphase.

Miscellaneous. Recognized by antinuclear autoantibodies in primary biliary cirrhosis. Knockdown of NUP210 causes nuclear membranes to accumulate aberrant structures termed twinned and fusion-arrested membranes and nuclear pore complex to cluster. Induces cell death and chromatin disruptions.

Similarity. Belongs to the NUP210 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TEM1-1	1	yes
Q8TEM1-2	2

RefSeq proteins (1): NP_079199* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003343	Big_2	Domain
IPR008964	Invasin/intimin_cell_adhesion	Homologous_superfamily
IPR045197	NUP210-like	Family
IPR055094	NUP210_Ig15	Domain
IPR055095	NUP210_Ig_C	Domain
IPR055096	Ig_NUP210_1st	Domain
IPR055097	Ig_NUP210_2nd	Domain
IPR055098	Ig_NUP210_3rd	Domain
IPR055099	Ig_NUP210_7th	Domain
IPR056897	Ig_NUP210_4th	Domain
IPR056898	Ig_NUP210_6th	Domain
IPR056899	Ig_NUP210_9th	Domain
IPR057586	Ig_NUP210_16th	Domain
IPR058779	Ig_NUP210_13th	Domain

Pfam: PF02368, PF22957, PF22959, PF22962, PF22963, PF22967, PF22969, PF24902, PF24935, PF24991, PF25354, PF26181, PF26182, PF26183, PF26184

UniProt features (38 total): glycosylation site 12, sequence variant 10, modified residue 5, topological domain 2, splice variant 2, sequence conflict 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7R5K	ELECTRON MICROSCOPY	12
7R5J	ELECTRON MICROSCOPY	50

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TEM1-F1	79.86	0.20

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 1881, 1886, 1844, 1874, 1877

Glycosylation sites (12): 44, 337, 405, 484, 681, 801, 926, 1039, 1116, 1135, 1362, 1441

Function

Pathways and Gene Ontology

Reactome pathways

31 pathways

ID	Pathway
R-HSA-1169408	ISG15 antiviral mechanism
R-HSA-159227	Transport of the SLBP independent Mature mRNA
R-HSA-159230	Transport of the SLBP Dependant Mature mRNA
R-HSA-159231	Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054	Rev-mediated nuclear export of HIV RNA
R-HSA-168271	Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276	NS1 Mediated Effects on Host Pathways
R-HSA-168325	Viral Messenger RNA Synthesis
R-HSA-168333	NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822	Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746	Nuclear import of Rev protein
R-HSA-180910	Vpr-mediated nuclear import of PICs
R-HSA-1855170	IPs transport between nucleus and cytosol
R-HSA-1855196	IP3 and IP4 transport between cytosol and nucleus
R-HSA-1855229	IP6 and IP7 transport between cytosol and nucleus
R-HSA-191859	snRNP Assembly
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins
R-HSA-3232142	SUMOylation of ubiquitinylation proteins
R-HSA-3301854	Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453	Regulation of HSF1-mediated heat shock response
R-HSA-4085377	SUMOylation of SUMOylation proteins
R-HSA-4551638	SUMOylation of chromatin organization proteins
R-HSA-4570464	SUMOylation of RNA binding proteins
R-HSA-4615885	SUMOylation of DNA replication proteins
R-HSA-5619107	Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
R-HSA-6784531	tRNA processing in the nucleus
R-HSA-9609690	HCMV Early Events
R-HSA-9610379	HCMV Late Events
R-HSA-9705671	SARS-CoV-2 activates/modulates innate and adaptive immune responses

MSigDB gene sets: 248 (showing top): REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, MATTIOLI_MGUS_VS_PCL, MITSIADES_RESPONSE_TO_APLIDIN_DN, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEAR_TRANSPORT, REACTOME_HIV_INFECTION, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, MODULE_480, GNF2_FBL, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN

GO Biological Process (3): nucleocytoplasmic transport (GO:0006913), protein transport (GO:0015031), mRNA transport (GO:0051028)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (7): nuclear envelope (GO:0005635), nuclear pore (GO:0005643), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), nuclear membrane (GO:0031965), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Transport of Mature mRNAs Derived from Intronless Transcripts	3
Inositol phosphate metabolism	3
Interactions of Rev with host cellular proteins	2
Influenza Infection	2
SUMO E3 ligases SUMOylate target proteins	2
Antimicrobial mechanism of IFN-stimulated genes	1
Transport of Mature Transcript to Cytoplasm	1
Late Phase of HIV Life Cycle	1
Influenza Viral RNA Transcription and Replication	1
Export of Viral Ribonucleoproteins from Nucleus	1
Glycolysis	1
Interactions of Vpr with host cellular proteins	1
Metabolism of non-coding RNA	1
Nuclear Envelope Breakdown	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleus	2
endomembrane system	2
nuclear envelope	2
organelle membrane	2
intracellular membrane-bounded organelle	2
nuclear transport	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
RNA transport	1
binding	1
organelle envelope	1
nuclear protein-containing complex	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1302 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUP210	NUP62	P37198	853
NUP210	RANBP2	P49792	836
NUP210	NUP93	Q8N1F7	824
NUP210	SP100	P23497	821
NUP210	NUP188	Q5SRE5	819
NUP210	NUP160	Q12769	816
NUP210	NUP107	P57740	793
NUP210	NUP153	P49790	789
NUP210	NUP35	Q8NFH5	781
NUP210	NUP133	Q8WUM0	779
NUP210	NUP37	Q8NFH4	772
NUP210	NUP205	Q92621	767
NUP210	NUP50	Q9UKX7	758
NUP210	NUP155	O75694	757
NUP210	NDC1	Q9BTX1	756

IntAct

147 interactions, top by confidence:

A	B	Type	Score
TBK1	TBKBP1	psi-mi:“MI:0914”(association)	0.860
NAPA	SNAP23	psi-mi:“MI:0914”(association)	0.780
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
ERBB3	AIFM1	psi-mi:“MI:0914”(association)	0.570
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
NUP210	NOCT	psi-mi:“MI:0915”(physical association)	0.560
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
RHOBTB3	ARF5	psi-mi:“MI:0914”(association)	0.530
rep	IDE	psi-mi:“MI:0914”(association)	0.530
EGFR	NDUFA4	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
SLC1A5	GPR89A	psi-mi:“MI:0914”(association)	0.530
SLC6A8	ILVBL	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
DISC1	NUP210	psi-mi:“MI:0915”(physical association)	0.500
MET	NDUFA4	psi-mi:“MI:2364”(proximity)	0.420
ZNF302	NUP210	psi-mi:“MI:0915”(physical association)	0.400
Nup98	POM121C	psi-mi:“MI:0914”(association)	0.350
Nup107	POM121C	psi-mi:“MI:0914”(association)	0.350
Nup214	NUP155	psi-mi:“MI:0914”(association)	0.350
Rcc1	WDR46	psi-mi:“MI:0914”(association)	0.350

BioGRID (266): NUP210 (Affinity Capture-MS), NUP210 (Affinity Capture-MS), NUP210 (Affinity Capture-MS), NUP210 (Co-fractionation), NUP210 (Co-fractionation), NUP210 (Co-fractionation), NUP210 (Co-fractionation), NUP210 (Affinity Capture-MS), NUP210 (Proximity Label-MS), NUP210 (Affinity Capture-MS), NUP210 (Proximity Label-MS), NUP210 (Affinity Capture-MS), NUP210 (Affinity Capture-MS), NUP210 (Affinity Capture-MS), NUP210 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5PUP4, B2RY83, D3ZB51, E9PZ19, M0RAS4, O70472, O75882, P11654, P15209, P21214, P24786, P27090, P30371, P34925, P61811, P61812, P69849, P78539, Q01887, Q03351, Q15155, Q16288, Q16620, Q38L25, Q5H8C1, Q5IFJ9, Q5IS37, Q5IS82, Q5JPE7, Q5VV63, Q63604, Q63769, Q6A051, Q6GQT9, Q6VNS1, Q6ZQ11, Q7TNR6, Q86X52, Q8BFR2, Q8BG28

Diamond homologs: P11654, Q5VU65, Q8TEM1, Q9D2F7, Q9QY81

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
NUP210	“form complex”	NPC	binding
CDK1	“up-regulates activity”	NUP210	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 196 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Rev-mediated nuclear export of HIV RNA	9	21.8×	1e-07
NEP/NS2 Interacts with the Cellular Export Machinery	8	21.1×	8e-07
Nuclear import of Rev protein	8	20.5×	8e-07
Transport of Ribonucleoproteins into the Host Nucleus	7	19.1×	1e-05
Postmitotic nuclear pore complex (NPC) reformation	6	18.7×	5e-05
SUMOylation of SUMOylation proteins	7	17.4×	2e-05
IPs transport between nucleus and cytosol	6	17.4×	6e-05
IP3 and IP4 transport between cytosol and nucleus	6	17.4×	6e-05

GO biological processes:

GO term	Partners	Fold	FDR
nucleocytoplasmic transport	8	18.8×	5e-06
amino acid transport	10	18.7×	1e-07
transport across blood-brain barrier	8	8.6×	1e-03
protein import into nucleus	8	6.9×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

380 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	291
Likely benign	32
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

7712 predictions. Top by Δscore:

Variant	Effect	Δscore
3:13319070:A:AC	donor_gain	1.0000
3:13319071:C:CC	donor_gain	1.0000
3:13319152:TAGG:T	acceptor_gain	1.0000
3:13319224:CCTCA:C	donor_loss	1.0000
3:13319225:CTCA:C	donor_loss	1.0000
3:13319226:TCA:T	donor_loss	1.0000
3:13319227:CACCT:C	donor_loss	1.0000
3:13319229:C:CT	donor_loss	1.0000
3:13319322:CCAT:C	acceptor_gain	1.0000
3:13319323:CATC:C	acceptor_gain	1.0000
3:13319325:TC:T	acceptor_loss	1.0000
3:13319326:C:CC	acceptor_gain	1.0000
3:13319330:C:CT	acceptor_gain	1.0000
3:13319333:C:CT	acceptor_gain	1.0000
3:13319334:A:T	acceptor_gain	1.0000
3:13319761:A:AC	donor_gain	1.0000
3:13319762:C:CC	donor_gain	1.0000
3:13321245:C:CA	donor_gain	1.0000
3:13321349:A:C	donor_gain	1.0000
3:13321580:CTCA:C	donor_loss	1.0000
3:13321581:TCA:T	donor_loss	1.0000
3:13321582:CACC:C	donor_loss	1.0000
3:13321583:A:C	donor_loss	1.0000
3:13321584:C:CA	donor_loss	1.0000
3:13321836:C:CC	acceptor_gain	1.0000
3:13322188:ATTAC:A	donor_loss	1.0000
3:13322189:TTACC:T	donor_loss	1.0000
3:13322190:TACCG:T	donor_loss	1.0000
3:13322191:A:AC	donor_gain	1.0000
3:13322192:C:CC	donor_gain	1.0000

AlphaMissense

12267 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:13391269:A:G	W159R	0.999
3:13391269:A:T	W159R	0.999
3:13391297:G:C	F149L	0.999
3:13391297:G:T	F149L	0.999
3:13391299:A:G	F149L	0.999
3:13399861:C:A	W56C	0.999
3:13399861:C:G	W56C	0.999
3:13373846:A:G	W487R	0.998
3:13373846:A:T	W487R	0.998
3:13399747:G:C	S94R	0.998
3:13399747:G:T	S94R	0.998
3:13399749:T:G	S94R	0.998
3:13420123:A:G	L35P	0.998
3:13420126:A:G	L34P	0.998
3:13336837:A:G	W1212R	0.997
3:13336837:A:T	W1212R	0.997
3:13373844:C:A	W487C	0.997
3:13373844:C:G	W487C	0.997
3:13391267:C:A	W159C	0.997
3:13391267:C:G	W159C	0.997
3:13391294:G:C	S150R	0.997
3:13391294:G:T	S150R	0.997
3:13391296:T:G	S150R	0.997
3:13391298:A:G	F149S	0.997
3:13397383:A:G	L137P	0.997
3:13397466:A:C	C109W	0.997
3:13420061:A:G	W56R	0.997
3:13420061:A:T	W56R	0.997
3:13388367:A:G	L207P	0.996
3:13397467:C:T	C109Y	0.996

dbSNP variants (sampled 300 via entrez): RS1000046014 (3:13387690 T>C,G), RS1000054 (3:13390641 G>A,C), RS1000110635 (3:13351068 A>T), RS1000143795 (3:13413471 A>G), RS1000160024 (3:13330316 G>A), RS1000166197 (3:13353811 T>G), RS1000245437 (3:13334607 G>A), RS1000258020 (3:13341451 T>A), RS1000290846 (3:13421434 T>TG), RS1000299938 (3:13404684 G>A), RS1000339801 (3:13416090 C>T), RS1000377075 (3:13339622 G>A,T), RS1000388047 (3:13360014 A>G), RS1000401330 (3:13372500 T>G), RS1000410543 (3:13319048 T>C)

Disease associations

OMIM: gene MIM:607703 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
schizophrenia	No Known Disease Relationship	Unknown

Mondo (1): schizophrenia (MONDO:0005090)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006281_3	Coronary artery disease in type 1 diabetes	2.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725132 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.23	Kd	5915	nM	CHEMBL5653589
5.23	ED50	5915	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 8 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148905: Binding affinity to human NUP210 incubated for 45 mins by Kinobead based pull down assay	kd	5.9154	uM

CTD chemical–gene interactions

67 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	6
trichostatin A	affects cotreatment, decreases expression	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, decreases expression, affects cotreatment	2
Arsenic	affects expression, affects cotreatment, decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Nickel	increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Valproic Acid	affects expression, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
lead acetate	decreases expression	1
nobiletin	decreases reaction, increases expression	1
sodium arsenate	decreases reaction, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
aflatoxin B2	increases methylation	1
cupric chloride	decreases expression	1
nickel sulfate	decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651947	Binding	Binding affinity to human NUP210 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

5 cell lines: 4 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3D1	Abcam HEK293T NUP210 KO	Transformed cell line	Female
CVCL_TB47	HAP1 NUP210 (-) 1	Cancer cell line	Male
CVCL_TB48	HAP1 NUP210 (-) 2	Cancer cell line	Male
CVCL_TB49	HAP1 NUP210 (-) 3	Cancer cell line	Male
CVCL_TB50	HAP1 NUP210 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety