NUP205

Summary

NUP205 (nucleoporin 205, HGNC:18658) is a protein-coding gene on chromosome 7q33, encoding Nuclear pore complex protein Nup205 (Q92621). Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. It is a common-essential gene (DepMap: required in 96.3% of cancer cell lines).

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-resistant nephrotic syndrome.

Source: NCBI Gene 23165 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nephrotic syndrome, type 13 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 13
• Clinical variants (ClinVar): 697 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 19
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 96.3% of screened cell lines (common-essential)
• MANE Select transcript: NM_015135

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18658
Approved symbol	NUP205
Name	nucleoporin 205
Location	7q33
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0225
Ensembl gene	ENSG00000155561
Ensembl biotype	protein_coding
OMIM	614352
Entrez	23165

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 13 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000285968, ENST00000461255, ENST00000462316, ENST00000463247, ENST00000472132, ENST00000477620, ENST00000489493, ENST00000490439, ENST00000491089, ENST00000607647, ENST00000888395, ENST00000921547, ENST00000921548, ENST00000921549, ENST00000921550, ENST00000921551, ENST00000921552, ENST00000921553, ENST00000921554, ENST00000921555, ENST00000921556

RefSeq mRNA: 2 — MANE Select: NM_015135 NM_001329434, NM_015135

CCDS: CCDS34759

Canonical transcript exons

ENST00000285968 — 43 exons

Exon	Start	End
ENSE00001021513	135616655	135616726
ENSE00001021517	135619423	135619690
ENSE00001021519	135619790	135619888
ENSE00001021520	135635581	135635657
ENSE00001021524	135618412	135618603
ENSE00001021526	135594547	135594729
ENSE00001021528	135597368	135597418
ENSE00001021529	135602805	135602994
ENSE00001021532	135606145	135606226
ENSE00001021534	135601370	135601507
ENSE00001021537	135604340	135604460
ENSE00001021561	135587855	135587992
ENSE00001021570	135592987	135593192
ENSE00001021572	135617602	135617682
ENSE00001021573	135617090	135617247
ENSE00001021575	135591450	135591600
ENSE00001503883	135576969	135577128
ENSE00001611881	135557917	135557972
ENSE00003464596	135645468	135645596
ENSE00003468822	135573654	135573825
ENSE00003518667	135578751	135578915
ENSE00003523310	135638557	135638683
ENSE00003536856	135587575	135587691
ENSE00003545185	135637931	135638059
ENSE00003550627	135643192	135643358
ENSE00003562623	135644895	135645018
ENSE00003564579	135584832	135585007
ENSE00003569860	135600870	135600969
ENSE00003577187	135571105	135571247
ENSE00003590908	135614159	135614273
ENSE00003625534	135577796	135578024
ENSE00003632743	135615916	135616065
ENSE00003634993	135576270	135576414
ENSE00003655563	135648404	135648753
ENSE00003668993	135646158	135646231
ENSE00003675694	135597998	135598207
ENSE00003697223	135607247	135607371
ENSE00003697858	135627973	135628111
ENSE00003698507	135606751	135606915
ENSE00003698849	135625164	135625355
ENSE00003699032	135630344	135630470
ENSE00003699538	135622777	135622925
ENSE00003700450	135626240	135626361

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 96.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.5292 / max 787.2847, expressed in 1809 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81350	38.5292	1809

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	96.33	gold quality
ganglionic eminence	UBERON:0004023	94.07	gold quality
embryo	UBERON:0000922	93.08	gold quality
lower esophagus mucosa	UBERON:0035834	92.71	gold quality
secondary oocyte	CL:0000655	92.28	gold quality
adenohypophysis	UBERON:0002196	91.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.59	gold quality
esophagus mucosa	UBERON:0002469	91.10	gold quality
skin of abdomen	UBERON:0001416	91.08	gold quality
ectocervix	UBERON:0012249	90.84	gold quality
skin of leg	UBERON:0001511	90.75	gold quality
mucosa of transverse colon	UBERON:0004991	90.66	gold quality
left uterine tube	UBERON:0001303	90.57	gold quality
tibial nerve	UBERON:0001323	90.56	gold quality
right uterine tube	UBERON:0001302	90.54	gold quality
right ovary	UBERON:0002118	90.52	gold quality
pituitary gland	UBERON:0000007	90.40	gold quality
body of uterus	UBERON:0009853	90.35	gold quality
cerebellar hemisphere	UBERON:0002245	90.20	gold quality
left ovary	UBERON:0002119	90.18	gold quality
right testis	UBERON:0004534	90.13	gold quality
minor salivary gland	UBERON:0001830	90.07	gold quality
esophagus	UBERON:0001043	90.01	gold quality
granulocyte	CL:0000094	89.97	gold quality
cerebellar cortex	UBERON:0002129	89.96	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.94	gold quality
spleen	UBERON:0002106	89.74	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.59	gold quality
calcaneal tendon	UBERON:0003701	89.51	gold quality
left testis	UBERON:0004533	89.50	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.05

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 96.3% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 9)

• These data show for first time that adenovirus type 5 E4orf4 interacts with and modifies the nuclear pore complex and that Nup205-E4orf4 binding is required for normal regulation of viral gene expression and viral replication. (PMID:25210169)
• NUP93 knockdown reduced the presence of NUP205 in the nuclear pore compex, and, reciprocally, a NUP205 alteration abrogated NUP93 interaction. (PMID:26878725)
• LncRNA SNHG1 overexpression regulates the proliferation of acute myeloid leukemia cells through miR-488-5p/NUP205 axis. (PMID:31298340)
• NUP205 and NUP210 mutations are associated with defects in cardiac patterning. (PMID:31306055)
• LINC00887 regulates the proliferation of nasopharyngeal carcinoma via targeting miRNA-203b-3p to upregulate NUP205. (PMID:32964975)
• LncRNA HOTAIR Influences the Growth, Migration, and Invasion of Papillary Thyroid Carcinoma via Affection on the miR-488-5p/NUP205 Axis. (PMID:33107391)
• Biallelic loss of function NEK3 mutations deacetylate alpha-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning. (PMID:33230144)
• Knockdown of FLT4, Nup98, and Nup205 Cellular Genes Effectively Suppresses the Reproduction of Influenza Virus Strain A/WSN/1933 (H1N1) In vitro. (PMID:35339191)
• The role of the FSGS disease gene product and nuclear pore protein NUP205 in regulating nuclear localization and activity of transcriptional regulators YAP and TAZ. (PMID:37565816)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nup205	ENSDARG00000042530
mus_musculus	Nup205	ENSMUSG00000038759
rattus_norvegicus	Nup205	ENSRNOG00000010852
drosophila_melanogaster	Nup205	FBGN0031078
caenorhabditis_elegans		WBGENE00003789

Protein

Protein identifiers

Nuclear pore complex protein Nup205 — Q92621 (reviewed: Q92621)

Alternative names: 205 kDa nucleoporin, Nucleoporin Nup205

All UniProt accessions (5): Q92621, U3KPX2, U3KQ47, U3KQ97, U3KQH5

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC. In association with TMEM209, may be involved in nuclear transport of various nuclear proteins in addition to MYC.

Subunit / interactions. Part of the nuclear pore complex (NPC). Forms a complex with NUP35, NUP93, NUP155 and lamin B. Does not interact with TPR. Interacts with TMEM209 and MYC.

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

Tissue specificity. Expressed in the testis.

Disease relevance. Nephrotic syndrome 13 (NPHS13) [MIM:616893] A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the NUP186/NUP192/NUP205 family.

RefSeq proteins (2): NP_001316363, NP_055950* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021827	Nup186/Nup192/Nup205	Family

Pfam: PF11894

UniProt features (12 total): modified residue 7, sequence variant 3, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
7R5K	ELECTRON MICROSCOPY	12
5IJN	ELECTRON MICROSCOPY	21.4
5IJO	ELECTRON MICROSCOPY	21.4
7PER	ELECTRON MICROSCOPY	35
7R5J	ELECTRON MICROSCOPY	50

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92621-F1	78.46	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 (7): 2, 3, 575, 1165, 1167, 1939, 1942

Function

Pathways and Gene Ontology

Reactome pathways

32 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-9615933	Postmitotic nuclear pore complex (NPC) reformation

MSigDB gene sets: 288 (showing top): MODULE_97, MODULE_52, REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MODULE_182, MITSIADES_RESPONSE_TO_APLIDIN_DN, MODULE_16, GOBP_NUCLEAR_PORE_ORGANIZATION, PATIL_LIVER_CANCER, PUJANA_CHEK2_PCC_NETWORK, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, GOBP_NUCLEAR_TRANSPORT

GO Biological Process (5): nucleocytoplasmic transport (GO:0006913), nuclear pore organization (GO:0006999), protein transport (GO:0015031), mRNA transport (GO:0051028), nuclear pore complex assembly (GO:0051292)

GO Molecular Function (2): structural constituent of nuclear pore (GO:0017056), protein binding (GO:0005515)

GO Cellular Component (8): nuclear envelope (GO:0005635), nuclear pore (GO:0005643), cytosol (GO:0005829), membrane (GO:0016020), nuclear membrane (GO:0031965), nuclear periphery (GO:0034399), nuclear pore inner ring (GO:0044611), nucleus (GO:0005634)

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
cellular anatomical structure	3
nuclear pore	2
nucleus	2
nuclear envelope	2
nuclear protein-containing complex	2
nuclear transport	1
nucleus organization	1
protein-containing complex organization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
RNA transport	1
nuclear pore organization	1
pore complex assembly	1
structural molecule activity	1
nucleocytoplasmic transport	1
binding	1
endomembrane system	1
organelle envelope	1
cytoplasm	1
organelle membrane	1
nuclear lumen	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2356 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUP205	NUP93	Q8N1F7	998
NUP205	NUP155	O75694	996
NUP205	NUP35	Q8NFH5	996
NUP205	NUP188	Q5SRE5	995
NUP205	NUP107	P57740	955
NUP205	NUP88	Q99567	876
NUP205	NUP62	P37198	849
NUP205	NUP98	P52948	848
NUP205	NUP153	P49790	838
NUP205	SEH1L	Q96EE3	827
NUP205	NUP54	Q7Z3B4	816
NUP205	SEC13	P55735	816
NUP205	NUP58	Q9BVL2	814
NUP205	NUP133	Q8WUM0	811
NUP205	NUP160	Q12769	811

IntAct

203 interactions, top by confidence:

A	B	Type	Score
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
NUP155	LMNA	psi-mi:“MI:0914”(association)	0.670
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
AURKB	SEC16A	psi-mi:“MI:2364”(proximity)	0.570
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
DNAJC30	NDUFS8	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
VCAM1	PSMD11	psi-mi:“MI:0914”(association)	0.530
STOM	EI24	psi-mi:“MI:0914”(association)	0.510
NUP205	E4	psi-mi:“MI:0915”(physical association)	0.500
	C1QBP	psi-mi:“MI:0914”(association)	0.500
GSK3B	SEC16A	psi-mi:“MI:2364”(proximity)	0.420
NUP205	rev	psi-mi:“MI:0915”(physical association)	0.400
NUP205	VP3	psi-mi:“MI:0915”(physical association)	0.400
FDFT1	NUP205	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
NUP205	HOXC10	psi-mi:“MI:0915”(physical association)	0.370
Nup98	POM121C	psi-mi:“MI:0914”(association)	0.350

BioGRID (322): NUP205 (Affinity Capture-RNA), NUP205 (Affinity Capture-RNA), NUP205 (Affinity Capture-RNA), NUP205 (Affinity Capture-RNA), NUP205 (Affinity Capture-MS), NUP205 (Affinity Capture-MS), NUP205 (Affinity Capture-MS), NUP205 (Affinity Capture-MS), NUP205 (Affinity Capture-MS), NUP205 (Co-fractionation), NUP205 (Co-fractionation), NUP205 (Affinity Capture-MS), NUP205 (Synthetic Lethality), NUP205 (Affinity Capture-MS), NUP205 (Proximity Label-MS)

ESM2 similar proteins: A0JP85, A1A5H6, A5GFY4, A5YKK6, B0I564, B1AY13, E9Q8I9, O75448, O88480, P21359, P86409, P97526, Q04690, Q0KK59, Q16X15, Q24134, Q29S00, Q2PW47, Q3UHQ6, Q4QQS3, Q4V8B3, Q5F3M0, Q5FWU8, Q5RFA0, Q5TBA9, Q5U249, Q642P2, Q6AXZ5, Q6P4S8, Q6PI53, Q6ZQ08, Q80X82, Q80YV3, Q8BHW2, Q8BL99, Q8C4Y3, Q8IXH7, Q8K368, Q8N201, Q8WX92

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NUP205	“form complex”	NPC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 233 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	10	20.9×	2e-08
NEP/NS2 Interacts with the Cellular Export Machinery	9	20.5×	1e-07
Nuclear import of Rev protein	9	19.9×	1e-07
Transport of Ribonucleoproteins into the Host Nucleus	8	18.8×	1e-06
Postmitotic nuclear pore complex (NPC) reformation	7	18.8×	5e-06
IPs transport between nucleus and cytosol	7	17.5×	6e-06
IP3 and IP4 transport between cytosol and nucleus	7	17.5×	6e-06
IP6 and IP7 transport between cytosol and nucleus	7	17.5×	6e-06

GO biological processes:

GO term	Partners	Fold	FDR
RNA export from nucleus	6	28.5×	2e-05
nucleocytoplasmic transport	8	15.9×	2e-05
mRNA export from nucleus	7	10.5×	1e-03
substrate adhesion-dependent cell spreading	6	10.5×	5e-03
protein import into nucleus	13	9.5×	2e-06
cell surface receptor protein tyrosine kinase signaling pathway	9	7.9×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	297
Likely benign	212
Benign	121

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
224969	NM_015135.3(NUP205):c.5984T>C (p.Phe1995Ser)	Pathogenic
807642	NM_015135.3(NUP205):c.3329T>C (p.Leu1110Pro)	Likely pathogenic

SpliceAI

6728 predictions. Top by Δscore:

Variant	Effect	Δscore
7:135571102:A:AG	acceptor_gain	1.0000
7:135571102:AAGCT:A	acceptor_gain	1.0000
7:135571103:A:AG	acceptor_gain	1.0000
7:135571103:AGCT:A	acceptor_gain	1.0000
7:135571104:G:GA	acceptor_gain	1.0000
7:135571104:GCT:G	acceptor_gain	1.0000
7:135571104:GCTG:G	acceptor_gain	1.0000
7:135571248:G:C	donor_loss	1.0000
7:135571248:G:GG	donor_gain	1.0000
7:135571249:T:G	donor_loss	1.0000
7:135573652:A:AG	acceptor_gain	1.0000
7:135573653:G:GA	acceptor_gain	1.0000
7:135573653:GC:G	acceptor_gain	1.0000
7:135573653:GCCA:G	acceptor_gain	1.0000
7:135573653:GCCAA:G	acceptor_gain	1.0000
7:135573822:GCTG:G	donor_gain	1.0000
7:135573825:GGT:G	donor_loss	1.0000
7:135573826:G:GA	donor_loss	1.0000
7:135573826:G:GG	donor_gain	1.0000
7:135573827:T:G	donor_loss	1.0000
7:135576309:GA:G	donor_gain	1.0000
7:135576340:A:T	donor_gain	1.0000
7:135576391:A:T	donor_gain	1.0000
7:135576440:GGGT:G	donor_gain	1.0000
7:135576967:A:AG	acceptor_gain	1.0000
7:135576968:G:GA	acceptor_gain	1.0000
7:135576968:GTCCA:G	acceptor_gain	1.0000
7:135577022:G:GT	donor_gain	1.0000
7:135577920:T:G	donor_gain	1.0000
7:135577925:GC:G	donor_gain	1.0000

AlphaMissense

13160 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:135578870:T:A	W333R	0.999
7:135578870:T:C	W333R	0.999
7:135587909:T:A	W464R	0.999
7:135587909:T:C	W464R	0.999
7:135591469:T:A	V498D	0.999
7:135593025:T:A	W555R	0.999
7:135593025:T:C	W555R	0.999
7:135594706:T:A	W664R	0.999
7:135594706:T:C	W664R	0.999
7:135600870:T:A	W759R	0.999
7:135600870:T:C	W759R	0.999
7:135614217:G:C	R1085T	0.999
7:135614218:A:C	R1085S	0.999
7:135614218:A:T	R1085S	0.999
7:135617618:T:C	L1236P	0.999
7:135618496:T:A	W1286R	0.999
7:135618496:T:C	W1286R	0.999
7:135573814:T:C	L111P	0.998
7:135591526:T:C	L517P	0.998
7:135614208:G:C	R1082T	0.998
7:135614208:G:T	R1082M	0.998
7:135614209:G:C	R1082S	0.998
7:135614209:G:T	R1082S	0.998
7:135614217:G:T	R1085I	0.998
7:135615976:T:C	L1124P	0.998
7:135617618:T:A	L1236H	0.998
7:135618428:T:C	L1263P	0.998
7:135619496:T:C	L1346P	0.998
7:135619832:T:C	L1425P	0.998
7:135626286:T:C	L1573P	0.998

dbSNP variants (sampled 300 via entrez): RS1000007720 (7:135609427 G>A,C), RS1000010928 (7:135629393 C>T), RS1000105291 (7:135613866 A>G), RS1000117144 (7:135570401 G>A), RS1000134901 (7:135613515 A>G), RS1000303224 (7:135627096 A>C), RS1000333961 (7:135626714 A>T), RS1000349145 (7:135596956 C>A), RS1000357709 (7:135572699 C>T), RS1000364471 (7:135608002 A>C,T), RS1000478655 (7:135624119 G>A), RS1000499075 (7:135636132 C>T), RS1000531394 (7:135570219 T>A), RS1000536055 (7:135567793 C>G), RS1000608493 (7:135620575 T>G)

Disease associations

OMIM: gene MIM:614352 | disease phenotypes: MIM:616893

GenCC curated gene-disease

Disease	Classification	Inheritance
nephrotic syndrome, type 13	Strong	Autosomal recessive
familial idiopathic steroid-resistant nephrotic syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
nephrotic syndrome, type 13	Limited	AR

Mondo (2): nephrotic syndrome, type 13 (MONDO:0014818), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006)

Orphanet (1): Hereditary steroid-resistant nephrotic syndrome (Orphanet:656)

HPO phenotypes

19 total (19 of 19 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000707	Abnormality of the nervous system
HP:0000737	Irritability
HP:0000969	Edema
HP:0001945	Fever
HP:0001967	Diffuse mesangial sclerosis
HP:0002027	Abdominal pain
HP:0002315	Headache
HP:0002586	Peritonitis
HP:0003073	Hypoalbuminemia
HP:0003774	Stage 5 chronic kidney disease
HP:0011947	Respiratory tract infection
HP:0012579	Minimal change glomerulonephritis
HP:0012588	Steroid-resistant nephrotic syndrome
HP:0012622	Chronic kidney disease
HP:0031504	Foamy urine
HP:0100539	Periorbital edema

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001086_8	Paget’s disease	8.000000e-10
GCST003262_518	Post bronchodilator FEV1	3.000000e-06
GCST003264_889	Post bronchodilator FEV1/FVC ratio	5.000000e-06
GCST004068_61	Venous thromboembolism adjusted for sickle cell variant rs77121243-T	5.000000e-07
GCST008595_192	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	2.000000e-08
GCST010143_39	Meat-related diet	2.000000e-08
GCST010241_384	Apolipoprotein A1 levels	6.000000e-10
GCST012228_319	Waist-hip index	5.000000e-08
GCST012230_481	Waist-to-hip ratio adjusted for BMI	3.000000e-08
GCST90000047_148	Age at first sexual intercourse	2.000000e-09
GCST90002381_363	Eosinophil count	4.000000e-14
GCST90002382_163	Eosinophil percentage of white cells	6.000000e-12
GCST90002403_593	Red blood cell count	1.000000e-10

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0008111	diet measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0009749	age at first sexual intercourse measurement
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725190 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
5.93	Kd	1174	nM	CHEMBL5653589
5.93	ED50	1174	nM	CHEMBL5653589
5.65	Kd	2260	nM	CHEMBL3752910
5.65	ED50	2260	nM	CHEMBL3752910
5.11	IC50	7830	nM	MOLIBRESIB

PubChem BioAssay actives

3 with measured affinity, of 10 total; 3 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	2148904: Binding affinity to human NUP205 incubated for 45 mins by Kinobead based pull down assay	kd	1.1735	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148904: Binding affinity to human NUP205 incubated for 45 mins by Kinobead based pull down assay	kd	2.2597	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178811: Inhibition of NUP205 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	7.8300	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
nobiletin	decreases reaction, increases expression	1
sodium arsenate	decreases reaction, increases expression	1
arsenite	decreases reaction, affects binding	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
bisphenol B	increases expression	1
incobotulinumtoxinA	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance	1
Benzene	increases expression	1
Benzo(a)pyrene	increases expression	1
Caffeine	increases phosphorylation	1
Coumestrol	increases expression	1
Dinitrochlorobenzene	affects binding	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Plant Extracts	affects cotreatment, increases expression	1
Ribonucleotides	affects binding	1
Tetrachlorodibenzodioxin	affects expression	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
CHEMBL5651946	Binding	Binding affinity to human NUP205 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

Clinical trials (associated diseases)

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