NUP43

Summary

NUP43 (nucleoporin 43, HGNC:21182) is a protein-coding gene on chromosome 6q25.1, encoding Nucleoporin Nup43 (Q8NFH3). Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). It is a common-essential gene (DepMap: required in 93.0% of cancer cell lines).

Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).

Source: NCBI Gene 348995 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 60 total
• Cancer dependency (DepMap): dependent in 93.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_198887

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21182
Approved symbol	NUP43
Name	nucleoporin 43
Location	6q25.1
Locus type	gene with protein product
Status	Approved
Aliases	bA350J20.1, FLJ13287
Ensembl gene	ENSG00000120253
Ensembl biotype	protein_coding
OMIM	608141
Entrez	348995

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000340413, ENST00000367402, ENST00000367404, ENST00000403890, ENST00000463048, ENST00000543637, ENST00000917622, ENST00000917623, ENST00000917624, ENST00000917625, ENST00000946973

RefSeq mRNA: 1 — MANE Select: NM_198887 NM_198887

CCDS: CCDS5218

Canonical transcript exons

ENST00000340413 — 8 exons

Exon	Start	End
ENSE00002163697	149742390	149742570
ENSE00002229991	149724315	149727198
ENSE00002303584	149746376	149746529
ENSE00003466513	149745940	149746062
ENSE00003546016	149743638	149743715
ENSE00003573405	149738643	149738778
ENSE00003577620	149731613	149731735
ENSE00003648154	149736471	149736622

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 98.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.8721 / max 400.1488, expressed in 1800 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76142	19.5958	1800
76143	0.2763	95

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	98.04	gold quality
secondary oocyte	CL:0000655	97.17	gold quality
cervix squamous epithelium	UBERON:0006922	96.06	gold quality
seminal vesicle	UBERON:0000998	95.46	gold quality
oral cavity	UBERON:0000167	93.81	gold quality
pylorus	UBERON:0001166	93.79	gold quality
hair follicle	UBERON:0002073	93.62	gold quality
parietal pleura	UBERON:0002400	93.35	gold quality
visceral pleura	UBERON:0002401	93.23	gold quality
renal medulla	UBERON:0000362	93.07	gold quality
germinal epithelium of ovary	UBERON:0001304	92.90	gold quality
trabecular bone tissue	UBERON:0002483	92.76	gold quality
pleura	UBERON:0000977	92.75	gold quality
cardia of stomach	UBERON:0001162	92.74	gold quality
thymus	UBERON:0002370	92.57	gold quality
superior surface of tongue	UBERON:0007371	92.56	gold quality
urethra	UBERON:0000057	92.09	gold quality
palpebral conjunctiva	UBERON:0001812	92.03	gold quality
gingival epithelium	UBERON:0001949	91.84	gold quality
nipple	UBERON:0002030	91.61	gold quality
blood vessel layer	UBERON:0004797	91.61	gold quality
epithelium of nasopharynx	UBERON:0001951	91.35	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	91.35	gold quality
pharyngeal mucosa	UBERON:0000355	91.31	gold quality
squamous epithelium	UBERON:0006914	91.24	gold quality
endothelial cell	CL:0000115	91.08	gold quality
trachea	UBERON:0003126	91.05	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.90	gold quality
amniotic fluid	UBERON:0000173	90.81	gold quality
tongue	UBERON:0001723	90.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

118 targeting NUP43, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-6778-3P	99.96	67.29	2693

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 93.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• Data present the crystal structure of full length Nup43 and show that it adopts a canonical WD40 fold similar to other members of the family and interacts with Nup85-Seh1L complex to form a ternary complex. (PMID:26391640)
• High NUP43 expression was an independent prognostic factor of poor overall survival in luminal A subtype and in HER2+ subtype breast cancer. (PMID:29402145)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nup43	ENSDARG00000043884
mus_musculus	Nup43	ENSMUSG00000040034
rattus_norvegicus	Nup43	ENSRNOG00000049505
drosophila_melanogaster	Nup43	FBGN0038609
caenorhabditis_elegans		WBGENE00007493

Protein

Protein identifiers

Nucleoporin Nup43 — Q8NFH3 (reviewed: Q8NFH3)

Alternative names: Nup107-160 subcomplex subunit Nup43, p42

All UniProt accessions (4): B4DVD1, B4E301, Q8NFH3, F5H0E3

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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NFH3-1	1	yes
Q8NFH3-2	2

RefSeq proteins (1): NP_942590* (*=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

Pfam: PF00400

UniProt features (40 total): strand 29, repeat 6, chain 1, turn 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
4I79	X-RAY DIFFRACTION	1.75
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-Q8NFH3-F1	86.11	0.71

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 (1): 1

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: 249 (showing top): MULLIGHAN_NPM1_SIGNATURE_3_UP, REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, GOBP_NUCLEAR_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, YOKOE_CANCER_TESTIS_ANTIGENS, chr6q25, REACTOME_HIV_INFECTION, BLALOCK_ALZHEIMERS_DISEASE_UP, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, LIAO_METASTASIS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS

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 (10): kinetochore (GO:0000776), nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear speck (GO:0016607), nuclear pore outer ring (GO:0031080), chromosome, centromeric region (GO:0000775), nucleus (GO:0005634), 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
nucleus	1
endomembrane system	1
organelle envelope	1
nuclear envelope	1
nuclear lumen	1
cytoplasm	1
nuclear ribonucleoprotein granule	1
nuclear pore	1
chromosomal region	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2016 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUP43	NUP37	Q8NFH4	998
NUP43	NUP85	Q9BW27	997
NUP43	NUP133	Q8WUM0	997
NUP43	NUP160	Q12769	997
NUP43	SEH1L	Q96EE3	997
NUP43	NUP107	P57740	996
NUP43	SEC13	P55735	996
NUP43	NUP98	P52948	995
NUP43	AHCTF1	Q8WYP5	953
NUP43	NUP54	Q7Z3B4	816
NUP43	NUP205	Q92621	809
NUP43	NUP50	Q9UKX7	789
NUP43	NUP58	Q9BVL2	786
NUP43	NUP62	P37198	783
NUP43	NUP93	Q8N1F7	757

IntAct

103 interactions, top by confidence:

A	B	Type	Score
IKBKG	IKBKB	psi-mi:“MI:0914”(association)	0.980
XPA	ERCC1	psi-mi:“MI:0914”(association)	0.930
NUP43	SEH1L	psi-mi:“MI:0915”(physical association)	0.800
TP53RK	NUP43	psi-mi:“MI:0914”(association)	0.730
CCT2	PPP6C	psi-mi:“MI:0914”(association)	0.640
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
NUP43	CASP6	psi-mi:“MI:0915”(physical association)	0.560
NUP43	CCK	psi-mi:“MI:0915”(physical association)	0.560
NUP43	HEXB	psi-mi:“MI:0915”(physical association)	0.560
NUP43	LAMP2	psi-mi:“MI:0915”(physical association)	0.560
NUP43	TTR	psi-mi:“MI:0915”(physical association)	0.560
NUP43	PARK7	psi-mi:“MI:0915”(physical association)	0.560
NUP43	PRPF40A	psi-mi:“MI:0915”(physical association)	0.560
ATXN3	NUP43	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	NUP43	psi-mi:“MI:0915”(physical association)	0.560
TARDBP	NUP43	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (1118): NUP43 (Affinity Capture-MS), NUP43 (Affinity Capture-MS), NUP43 (Affinity Capture-MS), NUP43 (Affinity Capture-MS), LAGE3 (Affinity Capture-MS), NUP98 (Affinity Capture-MS), SEH1L (Affinity Capture-MS), NUP160 (Affinity Capture-MS), NUP133 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), TPRKB (Affinity Capture-MS), KIF5B (Affinity Capture-MS), NUP85 (Affinity Capture-MS), NUP107 (Affinity Capture-MS)

ESM2 similar proteins: A2RRH5, A4QNS7, P59235, Q08BB3, Q0VBY8, Q148I1, Q32KQ2, Q3KPT3, Q3MHH0, Q4QR85, Q4R3J7, Q4R571, Q53HC9, Q5M8I4, Q5PPK9, Q5RE10, Q5U4D9, Q5U5D4, Q5VU92, Q5VW00, Q5XJP1, Q5XJS5, Q5ZJL7, Q5ZK69, Q63ZP7, Q66JG1, Q68EI0, Q6AX81, Q6AY87, Q6DUZ9, Q6P809, Q7Z5U6, Q80ZK9, Q86W42, Q8BGW4, Q8BGZ3, Q8CBW4, Q8K0G5, Q8N5D0, Q8NA23

Diamond homologs: A8PT44, P59235, Q24JJ9, Q59Y20, Q5PPK9, Q8H594, Q8K0G5, Q8NFH3, Q9LF27, Q9U1Q0, A3GFK8, A4R3M4, B0W517, B2AEZ5, B2B766, B3RQN1, C0NRC6, C4JZS6, C4QYG0, C6HTE8, D1ZEB4, F4K5R6, I7MKT5, O00628, O13286, O14170, O54927, O59894, P25569, P38968, P97865, Q03177, Q0V8F1, Q17BB0, Q2HBX6, Q3E906, Q4I7X1, Q4V837, Q54WA3, Q5XI13

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NUP43	“form complex”	NPC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 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
Postmitotic nuclear pore complex (NPC) reformation	9	54.8×	3e-12
Transport of Ribonucleoproteins into the Host Nucleus	10	53.3×	6e-13
IPs transport between nucleus and cytosol	9	51.1×	3e-12
IP3 and IP4 transport between cytosol and nucleus	9	51.1×	3e-12
IP6 and IP7 transport between cytosol and nucleus	9	51.1×	3e-12
Nuclear import of Rev protein	10	50.1×	6e-13
Regulation of Glucokinase by Glucokinase Regulatory Protein	9	47.9×	5e-12
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)	9	47.9×	5e-12

GO biological processes:

GO term	Partners	Fold	FDR
RNA export from nucleus	5	57.8×	4e-06
nucleocytoplasmic transport	10	48.4×	4e-12
mRNA transport	7	22.8×	4e-06
protein import into nucleus	10	17.8×	7e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1500 predictions. Top by Δscore:

Variant	Effect	Δscore
6:149731736:C:CC	acceptor_gain	1.0000
6:149736622:CCTTT:C	acceptor_gain	1.0000
6:149736626:T:TC	acceptor_gain	1.0000
6:149738641:A:AC	donor_gain	1.0000
6:149738642:C:CC	donor_gain	1.0000
6:149738642:CA:C	donor_gain	1.0000
6:149738666:ATTT:A	donor_gain	1.0000
6:149738775:TTGT:T	acceptor_gain	1.0000
6:149738779:C:CC	acceptor_gain	1.0000
6:149742386:TTA:T	donor_loss	1.0000
6:149742387:TA:T	donor_loss	1.0000
6:149742388:A:AG	donor_loss	1.0000
6:149742567:GAGT:G	acceptor_gain	1.0000
6:149742569:GTC:G	acceptor_loss	1.0000
6:149742571:C:CC	acceptor_gain	1.0000
6:149742579:C:CT	acceptor_gain	1.0000
6:149743716:C:CC	acceptor_gain	1.0000
6:149745935:TTTA:T	donor_loss	1.0000
6:149745936:TTAC:T	donor_loss	1.0000
6:149745937:TACC:T	donor_loss	1.0000
6:149745938:AC:A	donor_loss	1.0000
6:149745939:C:CA	donor_loss	1.0000
6:149745954:CA:C	donor_gain	1.0000
6:149746377:T:TA	donor_gain	1.0000
6:149746391:T:TA	donor_gain	1.0000
6:149746424:T:TA	donor_gain	1.0000
6:149746425:C:A	donor_gain	1.0000
6:149749954:GCA:G	donor_gain	1.0000
6:149749957:G:GG	donor_gain	1.0000
6:149731731:CCACA:C	acceptor_gain	0.9900

AlphaMissense

2506 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:149736560:G:T	A234D	1.000
6:149731685:A:G	S281P	0.999
6:149731686:G:C	C280W	0.999
6:149731696:A:G	L277P	0.999
6:149731719:A:C	F269L	0.999
6:149731719:A:T	F269L	0.999
6:149731721:A:G	F269L	0.999
6:149736528:A:G	W245R	0.999
6:149736528:A:T	W245R	0.999
6:149736554:C:T	G236D	0.999
6:149736593:A:T	V223D	0.999
6:149738703:C:A	G193V	0.999
6:149746392:C:T	G35E	0.999
6:149727001:C:G	A371P	0.998
6:149727015:C:T	G366E	0.998
6:149731661:A:G	W289R	0.998
6:149731661:A:T	W289R	0.998
6:149731684:G:A	S281F	0.998
6:149731684:G:T	S281Y	0.998
6:149731720:A:G	F269S	0.998
6:149736561:C:G	A234P	0.998
6:149738689:A:G	W198R	0.998
6:149738689:A:T	W198R	0.998
6:149738703:C:T	G193E	0.998
6:149738711:A:C	N190K	0.998
6:149738711:A:T	N190K	0.998
6:149738721:A:G	L187P	0.998
6:149743693:A:T	V89D	0.998
6:149746393:C:G	G35R	0.998
6:149746393:C:T	G35R	0.998

dbSNP variants (sampled 300 via entrez): RS1000086976 (6:149742092 T>C), RS1000270832 (6:149747825 A>G,T), RS1000302043 (6:149746135 C>T), RS1000389313 (6:149740612 A>G), RS1000521869 (6:149724389 C>T), RS1000578883 (6:149747363 T>C), RS1000671058 (6:149747508 G>A), RS1000910836 (6:149737358 T>C), RS1001041383 (6:149747283 C>A,G), RS1001050478 (6:149729429 G>A,T), RS1001081209 (6:149729719 T>A,G), RS1001280946 (6:149735749 A>G), RS1001578006 (6:149746925 G>A), RS1001614447 (6:149741057 C>T), RS1001683981 (6:149749438 TCGACCCCG>T)

Disease associations

OMIM: gene MIM:608141 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST007732_13	Allergic disease (asthma, hay fever or eczema)	7.000000e-06
GCST010702_29	Subcortical volume (MOSTest)	7.000000e-11
GCST010703_317	Brain morphology (MOSTest)	7.000000e-22

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases expression, decreases methylation	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
nickel chloride	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Nickel	decreases expression	1
Ozone	affects expression, increases abundance	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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