NUP42

Summary

NUP42 (nucleoporin 42, HGNC:17010) is a protein-coding gene on chromosome 7p15.3, encoding Nucleoporin NUP42 (O15504). Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm.

Enables nuclear export signal receptor activity. Involved in protein export from nucleus. Located in cytosol; nuclear membrane; and nucleoplasm.

Source: NCBI Gene 11097 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_007342

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17010
Approved symbol	NUP42
Name	nucleoporin 42
Location	7p15.3
Locus type	gene with protein product
Status	Approved
Aliases	NLP_1, CG1, hCG1, H_RG271G13.9
Ensembl gene	ENSG00000136243
Ensembl biotype	protein_coding
OMIM	619998
Entrez	11097

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 7 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000258742, ENST00000410002, ENST00000413919, ENST00000437140, ENST00000438012, ENST00000477844, ENST00000485250, ENST00000486136, ENST00000487595, ENST00000489145, ENST00000497500, ENST00000879313, ENST00000928288, ENST00000928289, ENST00000955079

RefSeq mRNA: 5 — MANE Select: NM_007342 NM_001370443, NM_001370444, NM_001370445, NM_001370446, NM_007342

CCDS: CCDS5379

Canonical transcript exons

ENST00000258742 — 7 exons

Exon	Start	End
ENSE00001346995	23182048	23182206
ENSE00001890161	23200168	23201006
ENSE00003459443	23196680	23196766
ENSE00003528323	23187052	23187146
ENSE00003568763	23195839	23195915
ENSE00003627310	23199458	23199542
ENSE00003666522	23185070	23185298

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 93.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.1276 / max 253.7529, expressed in 1818 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
77622	24.8336	1814
77621	4.1448	1623
77623	3.3323	1441
77620	0.8170	404

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	93.52	gold quality
monocyte	CL:0000576	93.50	gold quality
cerebellar cortex	UBERON:0002129	93.41	gold quality
rectum	UBERON:0001052	93.18	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.18	gold quality
right uterine tube	UBERON:0001302	93.17	gold quality
mononuclear cell	CL:0000842	93.05	gold quality
right testis	UBERON:0004534	93.00	gold quality
leukocyte	CL:0000738	92.83	gold quality
left testis	UBERON:0004533	92.75	gold quality
right adrenal gland cortex	UBERON:0035827	92.41	gold quality
metanephros cortex	UBERON:0010533	92.38	gold quality
cortical plate	UBERON:0005343	92.16	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.14	gold quality
spleen	UBERON:0002106	92.13	gold quality
endocervix	UBERON:0000458	91.97	gold quality
body of uterus	UBERON:0009853	91.94	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.79	gold quality
right coronary artery	UBERON:0001625	91.69	gold quality
right adrenal gland	UBERON:0001233	91.62	gold quality
cerebellum	UBERON:0002037	91.31	gold quality
adrenal tissue	UBERON:0018303	91.28	gold quality
mucosa of stomach	UBERON:0001199	91.19	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.18	gold quality
right lobe of thyroid gland	UBERON:0001119	91.15	gold quality
left lobe of thyroid gland	UBERON:0001120	91.15	gold quality
granulocyte	CL:0000094	91.07	gold quality
right frontal lobe	UBERON:0002810	91.06	gold quality
transverse colon	UBERON:0001157	91.05	gold quality
body of pancreas	UBERON:0001150	91.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting NUP42, 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-548C-3P	99.99	74.01	7587
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-4424	98.91	70.33	1145
HSA-MIR-34B-3P	98.70	67.40	1171
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-34C-3P	98.11	65.60	858
HSA-MIR-517A-3P	98.02	72.72	114
HSA-MIR-517B-3P	98.02	72.72	114
HSA-MIR-517C-3P	98.02	72.62	114
HSA-MIR-4327	97.21	67.71	676
HSA-MIR-4536-3P	97.06	66.88	175
HSA-MIR-675-3P	95.77	69.27	675

Literature-anchored findings (GeneRIF, showing 2)

• Data show that human nucleoporin CG1 participates in the docking of Vpr at the nuclear envelope, which may contribute to the disruption of the nuclear envelope and to the nuclear import of the viral DNA. (PMID:12228227)
• NLP1 functions as an accessory factor in CRM1-dependent nuclear protein export (PMID:22250199)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nup42	ENSDARG00000029043
mus_musculus	Nup42	ENSMUSG00000048439
rattus_norvegicus	Nup42	ENSRNOG00000010435
drosophila_melanogaster	CG18787	FBGN0042125
drosophila_melanogaster	CG18789	FBGN0042127

Paralogs (1): LENG9 (ENSG00000275183)

Protein

Protein identifiers

Nucleoporin NUP42 — O15504 (reviewed: O15504)

Alternative names: NLP-1, NUP42 homolog, Nucleoporin hCG1, Nucleoporin-42, Nucleoporin-like protein 2

All UniProt accessions (4): B4DT96, C9JYA1, O15504, F8WC66

UniProt curated annotations — full annotation on UniProt →

Function. Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. (Microbial infection) In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope.

Subunit / interactions. Probable component of the nuclear pore complex (NPC). Interacts with nuclear export protein NXF1. Interacts with GLE1. Able to form a heterotrimer with NUP155 and GLE1 in vitro. Interacts with XPO1. (Microbial infection) Interacts with the HIV-1 virus proteins Rev and Vpr. The interaction with HIV-1 Rev, a protein that mediates nuclear export of unspliced viral RNAs, suggests that its function may be bypassed by the HIV-1 virus.

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

Tissue specificity. Ubiquitously expressed.

Post-translational modifications. O-glycosylated.

Domain organisation. The FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC.

Isoforms (3)

UniProt ID	Names	Canonical?
O15504-1	1	yes
O15504-2	2
O15504-3	3

RefSeq proteins (5): NP_001357372, NP_001357373, NP_001357374, NP_001357375, NP_031368* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000571	Znf_CCCH	Domain
IPR051767	Nucleoporin_NUP42	Family

UniProt features (27 total): repeat 12, region of interest 3, splice variant 3, sequence variant 2, helix 2, chain 1, zinc finger region 1, compositionally biased region 1, modified residue 1, strand 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6B4F	X-RAY DIFFRACTION	2.81
6B4J	X-RAY DIFFRACTION	3.4
6B4I	X-RAY DIFFRACTION	3.62

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15504-F1	57.10	0.05

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): 106

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: 184 (showing top): ATF_B, REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, GOBP_NUCLEAR_TRANSPORT, REACTOME_HIV_INFECTION, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, ATF4_Q2, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MODULE_98, GOBP_NUCLEAR_EXPORT, GOBP_RNA_LOCALIZATION

GO Biological Process (4): protein export from nucleus (GO:0006611), nucleocytoplasmic transport (GO:0006913), mRNA transport (GO:0051028), protein transport (GO:0015031)

GO Molecular Function (5): RNA binding (GO:0003723), nuclear export signal receptor activity (GO:0005049), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (7): nucleus (GO:0005634), nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear membrane (GO:0031965), membrane (GO:0016020)

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 export	2
nucleus	2
nuclear envelope	2
intracellular protein transport	1
nuclear transport	1
RNA transport	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
nucleic acid binding	1
nucleocytoplasmic carrier activity	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
endomembrane system	1
organelle envelope	1
nuclear protein-containing complex	1
nuclear lumen	1
cytoplasm	1
organelle membrane	1

Protein interactions and networks

STRING

1648 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUP42	GLE1	Q53GS7	907
NUP42	RAE1	P78406	792
NUP42	NUP214	P35658	781
NUP42	NUP88	Q99567	727
NUP42	XPO1	O14980	670
NUP42	NXF1	Q9UBU9	668
NUP42	RGPD1	P0C839	666
NUP42	AAAS	Q9NRG9	657
NUP42	SEH1L	Q96EE3	649
NUP42	RANBP2	P49792	644
NUP42	NUP98	P52948	615
NUP42	NUP58	Q9BVL2	615
NUP42	NUP54	Q7Z3B4	588
NUP42	NUP160	Q12769	575
NUP42	NXT1	Q9UKK6	555

IntAct

66 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CARNMT1	NUP42	psi-mi:“MI:0914”(association)	0.640
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
BCL2L2	SLC27A2	psi-mi:“MI:0914”(association)	0.530
SEC13	NUP42	psi-mi:“MI:0915”(physical association)	0.370
TAP1	NUP42	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
MARK2	WDR46	psi-mi:“MI:0914”(association)	0.350
CNOT1	IBTK	psi-mi:“MI:0914”(association)	0.350
Ube2i	POM121C	psi-mi:“MI:0914”(association)	0.350
NCBP1	TRRAP	psi-mi:“MI:0914”(association)	0.350
NUP153	POM121C	psi-mi:“MI:0914”(association)	0.350
NUP58	ABCC5	psi-mi:“MI:0914”(association)	0.350
NUP107	POM121C	psi-mi:“MI:0914”(association)	0.350
ORF10	NUP42	psi-mi:“MI:0914”(association)	0.350
FADD	NUP42	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
NXF2B	MEIOC	psi-mi:“MI:0914”(association)	0.350
CHM	POLR3A	psi-mi:“MI:0914”(association)	0.350
ARHGEF19	NUP42	psi-mi:“MI:0914”(association)	0.350
GABARAPL1		psi-mi:“MI:0914”(association)	0.350
MAPRE1	SCAMP1	psi-mi:“MI:0914”(association)	0.350
NCL	NOP56	psi-mi:“MI:0914”(association)	0.350
NUMA1	SHANK3	psi-mi:“MI:0914”(association)	0.350

BioGRID (193): NUPL2 (Affinity Capture-MS), NUPL2 (Proximity Label-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS)

ESM2 similar proteins: A0JME2, A5H447, A6NF01, A8CG34, E9Q3G8, F4ID16, G0SDP9, G5E8Z2, O08587, O15504, O88797, O95081, P20676, P49790, P49791, P52591, P52594, P98082, Q03173, Q0VA45, Q2TA45, Q4KLH5, Q5FVW4, Q5PRE5, Q5RB98, Q5SV85, Q5XGN1, Q5ZI22, Q5ZIE8, Q5ZM88, Q64028, Q640Z6, Q6P0U9, Q80WC7, Q86XN7, Q8CIC2, Q8K2K6, Q8K3Z9, Q8L7F7, Q8R080

Diamond homologs: O15504, Q5FVW4, Q5RB98, Q5XGN1, Q5ZI22, Q6P0U9, Q8BTN6, Q8CIC2, Q96B70

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NUP42	“form complex”	NPC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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	9	52.1×	1e-11
Rev-mediated nuclear export of HIV RNA	9	49.2×	1e-11
Transport of Ribonucleoproteins into the Host Nucleus	8	49.2×	3e-10
NEP/NS2 Interacts with the Cellular Export Machinery	8	47.7×	3e-10
IPs transport between nucleus and cytosol	7	45.9×	3e-09
IP3 and IP4 transport between cytosol and nucleus	7	45.9×	3e-09
IP6 and IP7 transport between cytosol and nucleus	7	45.9×	3e-09
Transport of the SLBP independent Mature mRNA	8	45.0×	3e-10

GO biological processes:

GO term	Partners	Fold	FDR
RNA export from nucleus	5	63.3×	2e-06
nucleocytoplasmic transport	7	37.1×	2e-07
mRNA export from nucleus	9	36.0×	2e-09
mRNA stabilization	5	24.8×	2e-04
mRNA transport	5	17.8×	9e-04
protein import into nucleus	7	13.6×	1e-04
mRNA splicing, via spliceosome	7	8.7×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1078 predictions. Top by Δscore:

Variant	Effect	Δscore
7:23185066:TTA:T	acceptor_loss	1.0000
7:23185068:A:AG	acceptor_gain	1.0000
7:23185069:G:GA	acceptor_gain	1.0000
7:23185069:G:GG	acceptor_gain	1.0000
7:23185069:GGT:G	acceptor_gain	1.0000
7:23185069:GGTA:G	acceptor_gain	1.0000
7:23185294:CTTCT:C	donor_gain	1.0000
7:23185295:TTCT:T	donor_gain	1.0000
7:23185295:TTCTG:T	donor_loss	1.0000
7:23185296:TCT:T	donor_gain	1.0000
7:23185296:TCTG:T	donor_loss	1.0000
7:23185296:TCTGT:T	donor_loss	1.0000
7:23185297:CT:C	donor_gain	1.0000
7:23185297:CTGT:C	donor_loss	1.0000
7:23185298:TG:T	donor_loss	1.0000
7:23185298:TGTA:T	donor_loss	1.0000
7:23185299:G:C	donor_loss	1.0000
7:23185299:G:GG	donor_gain	1.0000
7:23185300:T:G	donor_loss	1.0000
7:23187047:TGCA:T	acceptor_loss	1.0000
7:23187048:GCAG:G	acceptor_loss	1.0000
7:23187049:CA:C	acceptor_loss	1.0000
7:23187050:A:AC	acceptor_loss	1.0000
7:23187050:A:AG	acceptor_gain	1.0000
7:23187050:AG:A	acceptor_gain	1.0000
7:23187051:G:GG	acceptor_gain	1.0000
7:23187051:G:GT	acceptor_loss	1.0000
7:23187051:GG:G	acceptor_gain	1.0000
7:23187051:GGGAA:G	acceptor_gain	1.0000
7:23196674:TTTCA:T	acceptor_loss	1.0000

AlphaMissense

2755 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:23182095:T:C	C4R	0.998
7:23182119:T:A	C12S	0.998
7:23182119:T:C	C12R	0.998
7:23182120:G:C	C12S	0.998
7:23182097:T:G	C4W	0.997
7:23182125:T:C	F14L	0.997
7:23182127:T:A	F14L	0.997
7:23182127:T:G	F14L	0.997
7:23182137:T:A	C18S	0.997
7:23182138:G:C	C18S	0.997
7:23182095:T:A	C4S	0.996
7:23182096:G:A	C4Y	0.996
7:23182096:G:C	C4S	0.996
7:23182137:T:C	C18R	0.996
7:23187098:T:A	W133R	0.996
7:23187098:T:C	W133R	0.996
7:23182101:T:C	F6L	0.995
7:23182103:C:A	F6L	0.995
7:23182103:C:G	F6L	0.995
7:23182121:C:G	C12W	0.994
7:23182139:C:G	C18W	0.994
7:23182096:G:T	C4F	0.993
7:23182104:T:C	F7L	0.992
7:23182106:C:A	F7L	0.992
7:23182106:C:G	F7L	0.992
7:23182120:G:T	C12F	0.992
7:23182138:G:A	C18Y	0.992
7:23182120:G:A	C12Y	0.991
7:23182138:G:T	C18F	0.991
7:23182151:T:A	H22Q	0.991

dbSNP variants (sampled 300 via entrez): RS1000017553 (7:23189226 C>A), RS1000192394 (7:23189907 T>C), RS1000294584 (7:23195204 T>A), RS1000319317 (7:23183979 T>C), RS1000373130 (7:23183507 G>A,C,T), RS1000506694 (7:23195467 T>C), RS1000616800 (7:23190556 T>G), RS1000649211 (7:23189618 A>G), RS1000684243 (7:23194944 T>A), RS1000726750 (7:23195154 G>A), RS1000873933 (7:23190180 A>G,T), RS1001274284 (7:23194406 G>A), RS1001290666 (7:23196855 A>G), RS1001322437 (7:23185445 G>A,C), RS1001332699 (7:23200986 T>C)

Disease associations

OMIM: gene MIM:619998 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002750_1	Chronic obstructive pulmonary disease	6.000000e-08
GCST004902_50	Parkinson’s disease	4.000000e-18
GCST005023_10	Initial pursuit acceleration	7.000000e-06
GCST005023_56	Initial pursuit acceleration	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008434	initial pursuit acceleration

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
bisphenol A	decreases expression	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
ICG 001	increases expression	1
Temozolomide	increases expression	1
Leflunomide	decreases expression	1
Atrazine	decreases expression	1
Ribonucleotides	affects binding	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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