NUP37

Summary

NUP37 (nucleoporin 37, HGNC:29929) is a protein-coding gene on chromosome 12q23.2, encoding Nucleoporin Nup37 (Q8NFH4). Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC).

Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein encoded by this gene is part of a subcomplex (Nup107-160) that is required for proper NPC function as well as for normal kinetochore-microtubule interaction and mitosis.

Source: NCBI Gene 79023 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial idiopathic steroid-resistant nephrotic syndrome (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 7
• Clinical variants (ClinVar): 69 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 40
• MANE Select transcript: NM_024057

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29929
Approved symbol	NUP37
Name	nucleoporin 37
Location	12q23.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC5585, FLJ22618
Ensembl gene	ENSG00000075188
Ensembl biotype	protein_coding
OMIM	609264
Entrez	79023

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000251074, ENST00000543021, ENST00000546385, ENST00000547269, ENST00000548994, ENST00000550459, ENST00000551200, ENST00000551744, ENST00000552283, ENST00000915157

RefSeq mRNA: 1 — MANE Select: NM_024057 NM_024057

CCDS: CCDS9089

Canonical transcript exons

ENST00000552283 — 10 exons

Exon	Start	End
ENSE00002330505	102120050	102120114
ENSE00003476551	102101032	102101104
ENSE00003496340	102076797	102076847
ENSE00003518243	102073103	102074467
ENSE00003584236	102077322	102077503
ENSE00003627093	102099106	102099200
ENSE00003634816	102112108	102112232
ENSE00003657199	102075001	102075094
ENSE00003673946	102118363	102118583
ENSE00003688863	102085766	102085856

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 99.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.6235 / max 279.7789, expressed in 1791 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132929	15.5768	1791
132930	0.0467	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	99.03	gold quality
secondary oocyte	CL:0000655	98.80	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.12	gold quality
ventricular zone	UBERON:0003053	91.71	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.30	gold quality
rectum	UBERON:0001052	91.16	gold quality
bronchial epithelial cell	CL:0002328	90.55	gold quality
islet of Langerhans	UBERON:0000006	89.44	gold quality
germinal epithelium of ovary	UBERON:0001304	89.11	gold quality
oral cavity	UBERON:0000167	88.95	gold quality
esophagus mucosa	UBERON:0002469	88.56	gold quality
mucosa of transverse colon	UBERON:0004991	88.45	gold quality
bone marrow	UBERON:0002371	88.10	gold quality
esophagus squamous epithelium	UBERON:0006920	88.06	gold quality
monocyte	CL:0000576	88.00	gold quality
mononuclear cell	CL:0000842	87.78	gold quality
epithelium of nasopharynx	UBERON:0001951	87.77	gold quality
vermiform appendix	UBERON:0001154	87.76	gold quality
right adrenal gland	UBERON:0001233	87.75	gold quality
leukocyte	CL:0000738	87.67	gold quality
gingival epithelium	UBERON:0001949	87.64	gold quality
epithelium of esophagus	UBERON:0001976	87.59	gold quality
palpebral conjunctiva	UBERON:0001812	87.57	gold quality
epithelium of bronchus	UBERON:0002031	87.47	gold quality
gingiva	UBERON:0001828	87.46	gold quality
stromal cell of endometrium	CL:0002255	87.38	gold quality
right adrenal gland cortex	UBERON:0035827	87.23	gold quality
calcaneal tendon	UBERON:0003701	87.20	gold quality
adrenal tissue	UBERON:0018303	86.94	gold quality
lower esophagus mucosa	UBERON:0035834	86.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting NUP37, 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-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-1257	98.97	68.02	1133
HSA-MIR-6715B-3P	98.80	68.07	1204
HSA-MIR-676-5P	98.49	68.87	1492
HSA-MIR-4329	97.68	66.26	1003
HSA-MIR-625-3P	97.32	66.55	554

Literature-anchored findings (GeneRIF, showing 8)

• Deletion of low-density lipoprotein-related receptor 5 inhibits liver Cancer cell proliferation via destabilizing Nucleoporin 37. (PMID:31881970)
• NUP37 silencing induces inhibition of cell proliferation, G1 phase cell cycle arrest and apoptosis in non-small cell lung cancer cells. (PMID:32014308)
• Significantly high expression of NUP37 leads to poor prognosis of glioma patients by promoting the proliferation of glioma cells. (PMID:34264013)
• Nucleoporin 37 promotes the cell proliferation, migration, and invasion of gastric cancer through activating the PI3K/AKT/mTOR signaling pathway. (PMID:34888748)
• Demethylation at enhancer upregulates MCM2 and NUP37 expression predicting poor survival in hepatocellular carcinoma patients. (PMID:35093119)
• Nucleoporin37 may play a role in early embryo development in human and mice. (PMID:35583302)
• DEPDC1B is involved in the proliferation, metastasis, cell cycle arrest and apoptosis of colon cancer cells by regulating NUP37. (PMID:37203403)
• NUP37 accumulation mediated by TRIM28 enhances lipid synthesis to accelerate HCC progression. (PMID:39294431)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	nup37	ENSDARG00000094191
mus_musculus	Nup37	ENSMUSG00000035351
rattus_norvegicus	Nup37	ENSRNOG00000004727
drosophila_melanogaster	Nup37	FBGN0039301

Protein

Protein identifiers

Nucleoporin Nup37 — Q8NFH4 (reviewed: Q8NFH4)

Alternative names: Nup107-160 subcomplex subunit Nup37

All UniProt accessions (4): Q8NFH4, F8VTY2, F8VXF5, H0YHK8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.

Subunit / interactions. Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex includes NUP160, NUP133, NUP107, NUP98, NUP85, NUP43, NUP37, SEH1 and SEC13.

Subcellular location. Chromosome. Centromere. Kinetochore. Nucleus. Nuclear pore complex.

Disease relevance. Microcephaly 24, primary, autosomal recessive (MCPH24) [MIM:618179] A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH24 patients additionally manifest mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly. The disease may be caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_076962* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR037626	NUP37	Family

Pfam: PF00400

UniProt features (9 total): repeat 7, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
7R5K	ELECTRON MICROSCOPY	12
5A9Q	ELECTRON MICROSCOPY	23
7PEQ	ELECTRON MICROSCOPY	35
7R5J	ELECTRON MICROSCOPY	50

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NFH4-F1	92.78	0.86

Function

Pathways and Gene Ontology

Reactome pathways

38 pathways

ID	Pathway
R-HSA-1169408	ISG15 antiviral mechanism
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
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-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
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-5663220	RHO GTPases Activate Formins

MSigDB gene sets: 346 (showing top): 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, GNF2_RRM1, PATIL_LIVER_CANCER, GOBP_NUCLEAR_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, REACTOME_HIV_INFECTION, FISCHER_G2_M_CELL_CYCLE, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, DODD_NASOPHARYNGEAL_CARCINOMA_UP, CAIRO_HEPATOBLASTOMA_UP, GOBP_RNA_LOCALIZATION

GO Biological Process (5): nucleocytoplasmic transport (GO:0006913), chromosome segregation (GO:0007059), protein transport (GO:0015031), mRNA transport (GO:0051028), cell division (GO:0051301)

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

GO Cellular Component (9): kinetochore (GO:0000776), nucleus (GO:0005634), nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear pore outer ring (GO:0031080), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-15 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
Antimicrobial mechanism of IFN-stimulated genes	1
Amplification of signal from the kinetochores	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
Mitotic Anaphase	1
Mitotic Prometaphase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	2
nuclear protein-containing complex	2
cellular anatomical structure	2
nuclear transport	1
cell cycle process	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
RNA transport	1
cellular process	1
binding	1
condensed chromosome, centromeric region	1
supramolecular complex	1
intracellular membrane-bounded organelle	1
nucleus	1
endomembrane system	1
organelle envelope	1
nuclear envelope	1
nuclear lumen	1
cytoplasm	1
nuclear pore	1
chromosomal region	1

Protein interactions and networks

STRING

2644 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUP37	NUP107	P57740	999
NUP37	NUP98	P52948	998
NUP37	NUP43	Q8NFH3	998
NUP37	SEC13	P55735	998
NUP37	NUP85	Q9BW27	997
NUP37	NUP133	Q8WUM0	997
NUP37	NUP160	Q12769	997
NUP37	SEH1L	Q96EE3	996
NUP37	AHCTF1	Q8WYP5	977
NUP37	NUP35	Q8NFH5	859
NUP37	NUP93	Q8N1F7	859
NUP37	NUP188	Q5SRE5	845
NUP37	NUP155	O75694	832
NUP37	NUP205	Q92621	798
NUP37	NUP88	Q99567	794

IntAct

65 interactions, top by confidence:

A	B	Type	Score
SEC13	NUP37	psi-mi:“MI:0915”(physical association)	0.800
NUP133	NUP98	psi-mi:“MI:0914”(association)	0.730
SEC13	SEC16A	psi-mi:“MI:0914”(association)	0.640
NUP43	NUP98	psi-mi:“MI:0914”(association)	0.640
Nup107	NUP98	psi-mi:“MI:0915”(physical association)	0.560
NUP37	CASP6	psi-mi:“MI:0915”(physical association)	0.560
NUP37	LAMP2	psi-mi:“MI:0915”(physical association)	0.560
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
NUP43	KIF5B	psi-mi:“MI:0914”(association)	0.530
AHCTF1	NUP98	psi-mi:“MI:0915”(physical association)	0.490
NUP37	MADD	psi-mi:“MI:0915”(physical association)	0.400
Nup98	NUP98	psi-mi:“MI:0915”(physical association)	0.400
NUP85	NUP98	psi-mi:“MI:0915”(physical association)	0.400
TPR	NUP37	psi-mi:“MI:0915”(physical association)	0.370
Nup98	POM121C	psi-mi:“MI:0914”(association)	0.350
Nup107	POM121C	psi-mi:“MI:0914”(association)	0.350
Ranbp2	POM121C	psi-mi:“MI:0914”(association)	0.350
Pcgf1	SCAMP3	psi-mi:“MI:0914”(association)	0.350
Ube2i	POM121C	psi-mi:“MI:0914”(association)	0.350
Cep250	PRKAR2A	psi-mi:“MI:0914”(association)	0.350
NUP153	POM121C	psi-mi:“MI:0914”(association)	0.350
Lin7c	AMOTL2	psi-mi:“MI:0914”(association)	0.350

BioGRID (122): NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Co-fractionation), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS), NUP37 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8EXB5, A4QNE6, A8WGE3, B7PS00, O00628, O22466, O22467, O43684, O74184, P97865, Q12788, Q1JQB2, Q29RH4, Q29RZ9, Q2KJJ5, Q3KPT3, Q3KQ62, Q4R571, Q53HC9, Q561Y0, Q5BLX8, Q5I0B4, Q5M7F6, Q5M8I4, Q5PPK9, Q5RB58, Q5U2W5, Q5XGI5, Q5XJP1, Q6DH44, Q6DUZ9, Q6PA72, Q8AVT9, Q8BGF3, Q8C4J7, Q8K0G5, Q8NFH4, Q8R537, Q8VE80, Q96J01

Diamond homologs: O36030, Q8NFH4, Q9CWU9, A2QP30, A4R3M4, A7RHG8, A8WGE3, A8XZJ9, A9V790, B0R0D7, B0W517, B0XAF3, B4JPT9, B5DG67, B6HP56, B6QC56, B8M0Q1, B9WD30, C0NRC6, C0S902, C1GB49, C4YPI7, C5FWH1, C5GVJ9, C5JD40, C5PFX0, C6HTE8, C7Z6H2, D4AZ50, D4DG66, D5GBI7, G0SC29, G4MQX3, O08653, O13923, O16023, O35828, O43071, O54929, P49026

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NUP37	“form complex”	NPC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 69 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
Nuclear import of Rev protein	13	94.9×	4e-21
Transport of Ribonucleoproteins into the Host Nucleus	12	93.1×	1e-19
IPs transport between nucleus and cytosol	11	91.0×	3e-18
IP3 and IP4 transport between cytosol and nucleus	11	91.0×	3e-18
IP6 and IP7 transport between cytosol and nucleus	11	91.0×	3e-18
NEP/NS2 Interacts with the Cellular Export Machinery	12	90.3×	1e-19
Rev-mediated nuclear export of HIV RNA	13	89.7×	5e-21
Postmitotic nuclear pore complex (NPC) reformation	10	88.7×	1e-16

GO biological processes:

GO term	Partners	Fold	FDR
nucleocytoplasmic transport	12	78.4×	9e-18
RNA export from nucleus	5	78.0×	5e-07
mRNA transport	7	30.7×	5e-07
protein import into nucleus	12	28.8×	2e-12
mRNA export from nucleus	5	24.6×	1e-04
protein transport	8	5.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	45
Likely benign	4
Benign	4

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1685995	NM_024057.4(NUP37):c.153_156+3del	Pathogenic
3775365	NM_024057.4(NUP37):c.354+1G>A	Pathogenic
807643	NM_024057.4(NUP37):c.225dup (p.Asp76Ter)	Pathogenic
590329	NM_024057.4(NUP37):c.916C>T (p.Arg306Ter)	Likely pathogenic

SpliceAI

1984 predictions. Top by Δscore:

Variant	Effect	Δscore
12:102074995:CATTA:C	donor_loss	1.0000
12:102074996:ATTAC:A	donor_loss	1.0000
12:102074997:TTACC:T	donor_loss	1.0000
12:102074998:TA:T	donor_loss	1.0000
12:102074999:ACCTG:A	donor_loss	1.0000
12:102075000:C:CG	donor_loss	1.0000
12:102075091:CCAC:C	acceptor_gain	1.0000
12:102075092:CAC:C	acceptor_gain	1.0000
12:102075092:CACC:C	acceptor_gain	1.0000
12:102075095:C:CC	acceptor_gain	1.0000
12:102075095:CT:C	acceptor_loss	1.0000
12:102077357:T:A	donor_gain	1.0000
12:102080272:ATTAG:A	donor_gain	1.0000
12:102099101:CATA:C	donor_loss	1.0000
12:102099102:ATAC:A	donor_loss	1.0000
12:102099104:A:AC	donor_gain	1.0000
12:102099104:A:T	donor_loss	1.0000
12:102099105:C:CC	donor_gain	1.0000
12:102099197:AAAC:A	acceptor_gain	1.0000
12:102099198:AAC:A	acceptor_gain	1.0000
12:102099199:AC:A	acceptor_gain	1.0000
12:102099200:CC:C	acceptor_gain	1.0000
12:102099201:C:CC	acceptor_gain	1.0000
12:102099201:C:T	acceptor_gain	1.0000
12:102099205:C:CT	acceptor_gain	1.0000
12:102099206:A:T	acceptor_gain	1.0000
12:102100020:T:A	donor_gain	1.0000
12:102101027:CATA:C	donor_loss	1.0000
12:102101028:ATAC:A	donor_loss	1.0000
12:102101029:TA:T	donor_loss	1.0000

AlphaMissense

2150 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:102099129:A:C	S142R	0.999
12:102099129:A:T	S142R	0.999
12:102099131:T:G	S142R	0.999
12:102074425:A:G	W304R	0.998
12:102074425:A:T	W304R	0.998
12:102075093:A:G	W259R	0.998
12:102075093:A:T	W259R	0.998
12:102099123:A:C	S144R	0.998
12:102099123:A:T	S144R	0.998
12:102099125:T:G	S144R	0.998
12:102112151:A:G	W80R	0.998
12:102112151:A:T	W80R	0.998
12:102077341:A:G	W235R	0.997
12:102077341:A:T	W235R	0.997
12:102077398:A:G	W216R	0.997
12:102077398:A:T	W216R	0.997
12:102077502:A:G	L181P	0.996
12:102099110:A:G	C149R	0.996
12:102077496:A:T	V183D	0.995
12:102099124:C:A	S144I	0.995
12:102099133:G:T	A141E	0.995
12:102077368:C:G	A226P	0.994
12:102075065:G:T	A268E	0.993
12:102075066:C:G	A268P	0.993
12:102077370:C:T	G225E	0.993
12:102077373:A:T	V224D	0.993
12:102099108:G:C	C149W	0.993
12:102077371:C:G	G225R	0.992
12:102077371:C:T	G225R	0.992
12:102077472:C:G	R191P	0.992

dbSNP variants (sampled 300 via entrez): RS1000082842 (12:102097118 G>A), RS1000154175 (12:102103899 G>C), RS1000231368 (12:102090422 T>C), RS1000271222 (12:102110548 A>G), RS1000325937 (12:102116458 T>A), RS1000378438 (12:102116735 T>C), RS1000447784 (12:102083779 C>T), RS1000459381 (12:102092124 A>T), RS1000617310 (12:102091511 A>G), RS1000627307 (12:102091837 C>T), RS1000878242 (12:102111896 A>G,T), RS1001084906 (12:102083570 T>C), RS1001136467 (12:102099162 C>T), RS1001214876 (12:102108833 T>A,C), RS1001246527 (12:102115821 C>A)

Disease associations

OMIM: gene MIM:609264 | disease phenotypes: MIM:618179

GenCC curated gene-disease

Disease	Classification	Inheritance
familial idiopathic steroid-resistant nephrotic syndrome	Supportive	Autosomal dominant
microcephaly 24, primary, autosomal recessive	Limited	Autosomal recessive

Mondo (2): microcephaly 24, primary, autosomal recessive (MONDO:0032583), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006)

Orphanet (0):

HPO phenotypes

40 total (30 of 40 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000076	Vesicoureteral reflux
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000122	Unilateral renal agenesis
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000340	Sloping forehead
HP:0000582	Upslanted palpebral fissure
HP:0000707	Abnormality of the nervous system
HP:0000737	Irritability
HP:0000969	Edema
HP:0001249	Intellectual disability
HP:0001263	Global developmental delay
HP:0001274	Agenesis of corpus callosum
HP:0001302	Pachygyria
HP:0001320	Cerebellar vermis hypoplasia
HP:0001347	Hyperreflexia
HP:0001510	Growth delay
HP:0001945	Fever
HP:0001967	Diffuse mesangial sclerosis
HP:0002027	Abdominal pain
HP:0002119	Ventriculomegaly
HP:0002282	Gray matter heterotopia
HP:0002315	Headache
HP:0002586	Peritonitis
HP:0003073	Hypoalbuminemia
HP:0003103	Abnormal cortical bone morphology
HP:0003577	Congenital onset
HP:0003774	Stage 5 chronic kidney disease

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000522_7	Height	8.000000e-06
GCST002702_67	Height	4.000000e-46
GCST007325_266	General risk tolerance (MTAG)	9.000000e-14
GCST010002_221	Refractive error	3.000000e-10
GCST010703_2	Brain morphology (MOSTest)	3.000000e-37
GCST012227_548	Hip circumference adjusted for BMI	1.000000e-08
GCST90000654_50	Central corneal thickness	2.000000e-15

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008579	risk-taking behaviour
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0005213	central corneal thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects cotreatment, increases expression	4
sodium arsenite	decreases expression	2
Air Pollutants	increases abundance, increases expression, decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	decreases expression	1
salinomycin	decreases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
2-palmitoylglycerol	increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
Arsenic Trioxide	decreases response to substance	1
Acetaminophen	decreases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Coumestrol	increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	increases expression, affects cotreatment	1
Ivermectin	decreases expression	1
Rotenone	decreases expression	1
Testosterone	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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