NUP35

Summary

NUP35 (nucleoporin 35, HGNC:29797) is a protein-coding gene on chromosome 2q32.1, encoding Nucleoporin NUP35 (Q8NFH5). Functions as a component of the nuclear pore complex (NPC). It is a selective cancer dependency (DepMap: 43.5% of cell lines).

This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10.

Source: NCBI Gene 129401 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 59 total
• Cancer dependency (DepMap): dependent in 43.5% of screened cell lines
• MANE Select transcript: NM_138285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29797
Approved symbol	NUP35
Name	nucleoporin 35
Location	2q32.1
Locus type	gene with protein product
Status	Approved
Aliases	MP44
Ensembl gene	ENSG00000163002
Ensembl biotype	protein_coding
OMIM	608140
Entrez	129401

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 12 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000295119, ENST00000374930, ENST00000409798, ENST00000442895, ENST00000446612, ENST00000452137, ENST00000455063, ENST00000472844, ENST00000479162, ENST00000497330, ENST00000879157, ENST00000879158, ENST00000929673, ENST00000929674, ENST00000929675, ENST00000966636, ENST00000966637

RefSeq mRNA: 3 — MANE Select: NM_138285 NM_001287584, NM_001287585, NM_138285

CCDS: CCDS2290, CCDS74614

Canonical transcript exons

ENST00000295119 — 9 exons

Exon	Start	End
ENSE00001164172	183124443	183124497
ENSE00001913972	183161054	183161680
ENSE00003459252	183128287	183128457
ENSE00003530073	183157444	183157513
ENSE00003540733	183130418	183130545
ENSE00003560241	183151508	183151649
ENSE00003631564	183159488	183159652
ENSE00003682334	183158283	183158411
ENSE00003784461	183133566	183133623

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 99.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7039 / max 147.4953, expressed in 1675 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24068	8.4829	1466
24067	5.1998	1520
24065	0.0123	4
24066	0.0064	3
24064	0.0025	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	99.69	gold quality
secondary oocyte	CL:0000655	99.38	gold quality
sperm	CL:0000019	98.44	gold quality
ventricular zone	UBERON:0003053	93.39	gold quality
epithelial cell of pancreas	CL:0000083	92.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.99	gold quality
calcaneal tendon	UBERON:0003701	90.60	gold quality
cartilage tissue	UBERON:0002418	90.50	gold quality
islet of Langerhans	UBERON:0000006	90.31	gold quality
ganglionic eminence	UBERON:0004023	90.18	gold quality
tibia	UBERON:0000979	89.82	gold quality
upper leg skin	UBERON:0004262	89.44	gold quality
right testis	UBERON:0004534	89.41	gold quality
left testis	UBERON:0004533	89.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.89	gold quality
testis	UBERON:0000473	88.77	gold quality
mucosa of sigmoid colon	UBERON:0004993	88.23	gold quality
skin of hip	UBERON:0001554	87.62	gold quality
parietal pleura	UBERON:0002400	87.47	gold quality
pigmented layer of retina	UBERON:0001782	87.41	gold quality
retina	UBERON:0000966	87.39	gold quality
germinal epithelium of ovary	UBERON:0001304	87.33	gold quality
oral cavity	UBERON:0000167	87.08	gold quality
pancreas	UBERON:0001264	86.49	gold quality
colonic mucosa	UBERON:0000317	86.29	gold quality
superficial temporal artery	UBERON:0001614	86.24	gold quality
cortical plate	UBERON:0005343	85.98	gold quality
jejunal mucosa	UBERON:0000399	85.87	gold quality
palpebral conjunctiva	UBERON:0001812	85.31	gold quality
adrenal tissue	UBERON:0018303	85.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting NUP35, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-8077	99.17	66.67	862
HSA-MIR-6737-3P	98.95	68.56	1577

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 43.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• defined regions of Nup53 that bind to neighboring nucleoporins as well as those domains that target Nup53 to the nuclear pore complex. (PMID:18256286)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nup35	ENSDARG00000012222
mus_musculus	Nup35	ENSMUSG00000026999
rattus_norvegicus	Nup35	ENSRNOG00000009290
drosophila_melanogaster	Nup35	FBGN0030943
caenorhabditis_elegans		WBGENE00003805

Protein

Protein identifiers

Nucleoporin NUP35 — Q8NFH5 (reviewed: Q8NFH5)

Alternative names: 35 kDa nucleoporin, Mitotic phosphoprotein 44, Nuclear pore complex protein Nup53, Nucleoporin NUP53

All UniProt accessions (6): C9IYQ7, C9JIY9, C9JWU7, Q8NFH5, F8WCF5, F8WEL4

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a component of the nuclear pore complex (NPC). NPC components, collectively referred to as nucleoporins (NUPs), can play the role of both NPC structural components and of docking or interaction partners for transiently associated nuclear transport factors. May play a role in the association of MAD1 with the NPC.

Subunit / interactions. Interacts with TMEM48/NDC1. Forms a complex with NUP93, NUP155, NUP205 and lamin B; the interaction with NUP93 is direct.

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

Similarity. Belongs to the Nup35 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8NFH5-1	1	yes
Q8NFH5-2	2
Q8NFH5-3	3

RefSeq proteins (3): NP_001274513, NP_001274514, NP_612142* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007846	RRM_NUP35_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR017389	Nucleoporin_NUP53	Family
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF05172

UniProt features (39 total): modified residue 19, helix 5, strand 5, region of interest 2, splice variant 2, sequence conflict 2, turn 2, chain 1, domain 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
8OZB	X-RAY DIFFRACTION	2.09
4LIR	X-RAY DIFFRACTION	2.46
7MW1	X-RAY DIFFRACTION	3.4
7R5K	ELECTRON MICROSCOPY	12
7R5J	ELECTRON MICROSCOPY	50

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NFH5-F1	64.21	0.23

Antibody-complex structures (SAbDab): 1 — 8OZB

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 (19): 106, 121, 129, 138, 252, 259, 265, 273, 275, 279, 280, 284, 308, 53, 55, 66, 73, 99, 100

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: 196 (showing top): REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, PAL_PRMT5_TARGETS_UP, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEAR_PORE_ORGANIZATION, GOBP_NUCLEAR_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, REACTOME_HIV_INFECTION, FISCHER_G2_M_CELL_CYCLE, GOBP_NUCLEUS_ORGANIZATION, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT

GO Biological Process (6): NLS-bearing protein import into nucleus (GO:0006607), nucleocytoplasmic transport (GO:0006913), nuclear pore organization (GO:0006999), mRNA transport (GO:0051028), cellular response to leukemia inhibitory factor (GO:1990830), protein transport (GO:0015031)

GO Molecular Function (5): nucleic acid binding (GO:0003676), phospholipid binding (GO:0005543), structural constituent of nuclear pore (GO:0017056), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (10): nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear membrane (GO:0031965), nuclear pore central transport channel (GO:0044613), nuclear pore nuclear basket (GO:0044615), nucleus (GO:0005634), 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
nuclear pore	3
nuclear protein-containing complex	3
cellular anatomical structure	3
binding	2
nucleus	2
nuclear envelope	2
protein import into nucleus	1
nuclear transport	1
nucleus organization	1
protein-containing complex organization	1
RNA transport	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
lipid binding	1
structural molecule activity	1
nucleocytoplasmic transport	1
protein binding	1
endomembrane system	1
organelle envelope	1
nuclear lumen	1
cytoplasm	1
membrane	1
cell periphery	1
organelle membrane	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1562 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUP35	NUP93	Q8N1F7	999
NUP35	NUP188	Q5SRE5	997
NUP35	NUP155	O75694	996
NUP35	NUP205	Q92621	996
NUP35	NDC1	Q9BTX1	978
NUP35	NUP98	P52948	952
NUP35	NUP153	P49790	940
NUP35	NUP62	P37198	932
NUP35	RANBP2	P49792	916
NUP35	NUP107	P57740	877
NUP35	NUP37	Q8NFH4	859
NUP35	NUP88	Q99567	855
NUP35	NUP54	Q7Z3B4	853
NUP35	NUP133	Q8WUM0	838
NUP35	NUP160	Q12769	811

IntAct

99 interactions, top by confidence:

A	B	Type	Score
KCTD9	NUP35	psi-mi:“MI:0915”(physical association)	0.870
NUP35	KCTD9	psi-mi:“MI:0915”(physical association)	0.870
NUP35	KCTD9	psi-mi:“MI:0914”(association)	0.870
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
FAM136A	RBFOX3	psi-mi:“MI:0914”(association)	0.640
PIN1	NUP35	psi-mi:“MI:0915”(physical association)	0.560
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
SNRNP27	UBA6	psi-mi:“MI:0914”(association)	0.530
HOXB5	VPS37C	psi-mi:“MI:0914”(association)	0.530
USP47	DENR	psi-mi:“MI:0914”(association)	0.530
CYP1A1	SNX3	psi-mi:“MI:0914”(association)	0.530
PHAF1	PSMG1	psi-mi:“MI:0914”(association)	0.530
TRPV5	ATF1	psi-mi:“MI:0914”(association)	0.530
TIMMDC1	NDUFS8	psi-mi:“MI:0914”(association)	0.530
FAM136A	PIK3C2A	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
NUP35	PKM	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ALG12	NUP35	psi-mi:“MI:0915”(physical association)	0.400
AHCTF1	NUP155	psi-mi:“MI:0915”(physical association)	0.400
NUP35	NUP93	psi-mi:“MI:0915”(physical association)	0.370
vBCL2	NUP35	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
Nup155	AP3B1	psi-mi:“MI:0914”(association)	0.350

BioGRID (533): NUP35 (Two-hybrid), NUP35 (Affinity Capture-MS), NUP35 (Affinity Capture-MS), NUP35 (Affinity Capture-MS), KCTD9 (Affinity Capture-MS), XRCC6BP1 (Affinity Capture-MS), NUP35 (Affinity Capture-MS), NUP35 (Affinity Capture-MS), NUP35 (Affinity Capture-MS), NUP35 (Affinity Capture-MS), NUP35 (Affinity Capture-MS), NUP35 (Affinity Capture-MS), PRKDC (Proximity Label-MS), SYNE1 (Proximity Label-MS), PDZD2 (Proximity Label-MS)

ESM2 similar proteins: A0PJP4, A2AHJ4, A4IIZ9, D3YZP9, F4HRI2, F4HRV8, I6PL68, O09000, O75665, O94967, P49140, P51948, P70365, Q0IHE5, Q15788, Q16204, Q17QG3, Q2QLI6, Q3LGD4, Q3SYW5, Q4PJW2, Q4R3X1, Q4R8G4, Q4V891, Q5R8Q4, Q5RD40, Q5RKN3, Q5ZKF4, Q5ZLY0, Q62739, Q653N3, Q66IJ0, Q68FY1, Q86Z20, Q8CFE5, Q8CGF6, Q8L7S4, Q8NA72, Q8NFH5, Q8R4R6

Diamond homologs: O04326, O13838, Q09601, Q68FY1, Q6P6X9, Q8NFH5, Q8R4R6, Q9VWS2, Q66IJ0

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CDK1	“down-regulates activity”	NUP35	phosphorylation
PLK1	“down-regulates activity”	NUP35	phosphorylation
NUP35	“form complex”	NPC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 130 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	50.2×	4e-17
Transport of Ribonucleoproteins into the Host Nucleus	12	49.2×	4e-16
IPs transport between nucleus and cytosol	11	48.1×	6e-15
IP3 and IP4 transport between cytosol and nucleus	11	48.1×	6e-15
IP6 and IP7 transport between cytosol and nucleus	11	48.1×	6e-15
NEP/NS2 Interacts with the Cellular Export Machinery	12	47.7×	5e-16
Rev-mediated nuclear export of HIV RNA	13	47.4×	5e-17
Postmitotic nuclear pore complex (NPC) reformation	10	46.9×	1e-13

GO biological processes:

GO term	Partners	Fold	FDR
nucleocytoplasmic transport	12	41.2×	6e-14
RNA export from nucleus	5	41.1×	2e-05
mRNA transport	8	18.5×	2e-06
protein import into nucleus	11	13.9×	2e-07
protein transport	13	5.0×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1599 predictions. Top by Δscore:

Variant	Effect	Δscore
2:183130409:ACACT:A	acceptor_gain	1.0000
2:183130410:C:G	acceptor_gain	1.0000
2:183130411:A:AG	acceptor_gain	1.0000
2:183130411:ACT:A	acceptor_gain	1.0000
2:183130413:TGTA:T	acceptor_loss	1.0000
2:183130414:GTA:G	acceptor_loss	1.0000
2:183130416:AGGT:A	acceptor_gain	1.0000
2:183130416:AGGTG:A	acceptor_gain	1.0000
2:183130417:GGT:G	acceptor_gain	1.0000
2:183130417:GGTG:G	acceptor_gain	1.0000
2:183130417:GGTGG:G	acceptor_gain	1.0000
2:183130541:GACAG:G	donor_gain	1.0000
2:183130542:ACAGG:A	donor_loss	1.0000
2:183130544:AGGTA:A	donor_loss	1.0000
2:183130545:GG:G	donor_loss	1.0000
2:183130546:G:GA	donor_loss	1.0000
2:183130547:T:G	donor_loss	1.0000
2:183133564:A:AG	acceptor_gain	1.0000
2:183133565:G:GA	acceptor_gain	1.0000
2:183133565:GCCA:G	acceptor_gain	1.0000
2:183133565:GCCAA:G	acceptor_gain	1.0000
2:183133622:AGGT:A	donor_loss	1.0000
2:183133624:G:GG	donor_gain	1.0000
2:183133625:T:A	donor_loss	1.0000
2:183158282:GAT:G	acceptor_gain	1.0000
2:183158407:ACAAA:A	donor_gain	1.0000
2:183158409:AAA:A	donor_gain	1.0000
2:183158410:AA:A	donor_gain	1.0000
2:183158411:AG:A	donor_loss	1.0000
2:183158412:G:C	donor_loss	1.0000

AlphaMissense

2103 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:183128350:T:C	L35S	1.000
2:183128358:T:C	F38L	1.000
2:183128360:T:A	F38L	1.000
2:183128360:T:G	F38L	1.000
2:183128362:T:C	L39S	1.000
2:183151633:T:A	W175R	1.000
2:183151633:T:C	W175R	1.000
2:183151637:T:A	V176E	1.000
2:183151643:T:A	V178E	1.000
2:183151645:T:C	F179L	1.000
2:183151646:T:C	F179S	1.000
2:183151647:T:A	F179L	1.000
2:183151647:T:G	F179L	1.000
2:183151648:G:A	G180R	1.000
2:183151648:G:C	G180R	1.000
2:183151648:G:T	G180W	1.000
2:183151649:G:A	G180E	1.000
2:183151649:G:T	G180V	1.000
2:183157445:T:C	F181L	1.000
2:183157446:T:C	F181S	1.000
2:183157447:T:A	F181L	1.000
2:183157447:T:G	F181L	1.000
2:183157461:C:A	A186D	1.000
2:183157470:T:A	I189K	1.000
2:183157470:T:G	I189R	1.000
2:183157473:T:C	L190S	1.000
2:183157482:T:C	F193S	1.000
2:183157493:G:A	G197R	1.000
2:183157493:G:C	G197R	1.000
2:183157493:G:T	G197W	1.000

dbSNP variants (sampled 300 via entrez): RS1000016510 (2:183157917 C>A,T), RS1000028737 (2:183118935 T>C), RS1000122871 (2:183152690 A>G), RS1000244981 (2:183117537 C>A,T), RS1000275859 (2:183146721 C>T), RS1000323778 (2:183125214 C>A), RS1000448947 (2:183140784 C>T), RS1000462844 (2:183134289 T>A), RS1000502773 (2:183141100 A>G,T), RS1000681792 (2:183129770 A>C,G), RS1000699633 (2:183129202 G>A,T), RS1000730761 (2:183146920 C>T), RS1000877460 (2:183145783 G>C), RS1000929042 (2:183124015 T>C), RS1001013843 (2:183135035 A>C)

Disease associations

OMIM: gene MIM:608140 | 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
GCST008521_14	Bitter beverage consumption	8.000000e-06
GCST009391_1898	Metabolite levels	8.000000e-06
GCST012484_4	Cerebral amyloid angiopathy x APOEe4 status interaction in Alzheimer’s disease	7.000000e-07
GCST90002401_392	Platelet distribution width	7.000000e-23

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0010089	bitter beverage consumption measurement
EFO:0010453	adenosine measurement
EFO:0007659	APOE carrier status
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	increases expression, affects expression, decreases expression	3
bisphenol A	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
bufotalin	increases expression	1
deoxynivalenol	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
coumarin	affects phosphorylation	1
pinosylvin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Cadmium	decreases expression	1
Caffeine	decreases phosphorylation	1
Calcitriol	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Coumestrol	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1

Clinical trials (associated diseases)

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