NUP58

Summary

NUP58 (nucleoporin 58, HGNC:20261) is a protein-coding gene on chromosome 13q12.13, encoding Nucleoporin p58/p45 (Q9BVL2). Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane. It is a selective cancer dependency (DepMap: 33.7% of cell lines).

This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Source: NCBI Gene 9818 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 99 total
• Cancer dependency (DepMap): dependent in 33.7% of screened cell lines
• MANE Select transcript: NM_014089

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20261
Approved symbol	NUP58
Name	nucleoporin 58
Location	13q12.13
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0410, NUP45
Ensembl gene	ENSG00000139496
Ensembl biotype	protein_coding
OMIM	607615
Entrez	9818

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 22 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000381718, ENST00000381736, ENST00000381747, ENST00000394327, ENST00000460326, ENST00000463407, ENST00000465068, ENST00000466694, ENST00000476553, ENST00000477876, ENST00000480187, ENST00000481980, ENST00000490231, ENST00000495460, ENST00000695571, ENST00000695572, ENST00000695575, ENST00000695577, ENST00000695578, ENST00000877016, ENST00000877017, ENST00000916765, ENST00000916766, ENST00000916767, ENST00000916768, ENST00000916769, ENST00000971964, ENST00000971965, ENST00000971966, ENST00000971967, ENST00000971968

RefSeq mRNA: 4 — MANE Select: NM_014089 NM_001008564, NM_001411001, NM_001411002, NM_014089

CCDS: CCDS31949, CCDS91790, CCDS91791, CCDS9314

Canonical transcript exons

ENST00000381736 — 16 exons

Exon	Start	End
ENSE00001829895	25338636	25338731
ENSE00003467986	25326916	25327034
ENSE00003471645	25331357	25331558
ENSE00003503259	25309247	25309282
ENSE00003506785	25307806	25307948
ENSE00003565821	25313614	25313751
ENSE00003566098	25327430	25327512
ENSE00003568164	25320919	25321093
ENSE00003570267	25324989	25325068
ENSE00003571875	25312883	25313032
ENSE00003578025	25319326	25319350
ENSE00003618887	25336936	25337034
ENSE00003621367	25315357	25315467
ENSE00003964333	25320530	25320595
ENSE00003964359	25339965	25342421
ENSE00003976835	25301625	25301880

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 94.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.7373 / max 380.4320, expressed in 1825 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134464	35.8465	1823
134465	10.3686	1739
134463	1.0567	587
134466	0.8037	370
134462	0.4303	195
206980	0.2314	118

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	94.17	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.62	gold quality
calcaneal tendon	UBERON:0003701	93.40	gold quality
right testis	UBERON:0004534	92.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.86	gold quality
left testis	UBERON:0004533	92.74	gold quality
ganglionic eminence	UBERON:0004023	91.85	gold quality
testis	UBERON:0000473	91.68	gold quality
ventricular zone	UBERON:0003053	91.53	gold quality
cortical plate	UBERON:0005343	91.41	gold quality
monocyte	CL:0000576	90.35	gold quality
mononuclear cell	CL:0000842	89.98	gold quality
adenohypophysis	UBERON:0002196	89.97	gold quality
leukocyte	CL:0000738	89.67	gold quality
cartilage tissue	UBERON:0002418	89.17	gold quality
lower lobe of lung	UBERON:0008949	89.07	gold quality
colonic epithelium	UBERON:0000397	88.99	gold quality
left ovary	UBERON:0002119	88.94	gold quality
pituitary gland	UBERON:0000007	88.54	gold quality
amniotic fluid	UBERON:0000173	88.51	gold quality
upper lobe of lung	UBERON:0008948	88.35	gold quality
upper lobe of left lung	UBERON:0008952	88.27	gold quality
islet of Langerhans	UBERON:0000006	88.11	gold quality
gastrocnemius	UBERON:0001388	88.10	gold quality
ovary	UBERON:0000992	88.03	gold quality
muscle of leg	UBERON:0001383	87.95	gold quality
right ovary	UBERON:0002118	87.94	gold quality
rectum	UBERON:0001052	87.87	gold quality
stromal cell of endometrium	CL:0002255	87.67	gold quality
left lobe of thyroid gland	UBERON:0001120	87.38	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.35
E-MTAB-6379	no	316.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

132 targeting NUP58, 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-5011-5P	100.00	83.46	5820
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-8485	100.00	77.57	4731
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 33.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Results from a study on gene expression variability markers in early-stage human embryos shows that NUP58 is a putative expression variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
• Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene. (PMID:34528284)
• The human gene NUPL1 shares 87% sequence identity with rat nucleoporin p58. (PMID:7531196)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	nup58	ENSDARG00000033965
mus_musculus	Gm49336	ENSMUSG00000114797
rattus_norvegicus	Nup58	ENSRNOG00000012644
drosophila_melanogaster	Nup58	FBGN0038722

Protein

Protein identifiers

Nucleoporin p58/p45 — Q9BVL2 (reviewed: Q9BVL2)

Alternative names: 58 kDa nucleoporin, Nucleoporin-like protein 1

All UniProt accessions (13): Q9BVL2, A0A8Q3WKK3, A0A8Q3WKK5, A0A8Q3WKL0, A0A8Q3WKL7, A0A8Q3WKL9, A0A8Q3WKM2, A0A8Q3WKQ7, A0A8Q3WLQ2, F8WBZ1, F8WCJ8, H7BYF2, Q5JRG1

UniProt curated annotations — full annotation on UniProt →

Function. Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane.

Subunit / interactions. Component of the p62 complex, a complex at least composed of NUP62, NUP54, and NUP58. Interacts with NUTF2. Interacts with SRP1-alpha and Importin p97 proteins when they are together, but not with SRP1-alpha protein alone.

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

Post-translational modifications. O-glycosylated.

Domain organisation. Contains FG repeats. 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. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited.

Miscellaneous. In rat, the p62 complex contains two different isoforms of NUP58. Isoform p45 has however not been isolated in human so far.

Similarity. Belongs to the NUP58 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BVL2-1	1, p58	yes
Q9BVL2-2	2
Q9BVL2-3	3

RefSeq proteins (4): NP_001008564, NP_001397930, NP_001397931, NP_054808* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024882	NUP58/p45/49	Family

Pfam: PF15967

UniProt features (30 total): repeat 14, region of interest 3, splice variant 3, coiled-coil region 2, sequence variant 2, helix 2, chain 1, compositionally biased region 1, modified residue 1, turn 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
4JO7	X-RAY DIFFRACTION	1.75
4JQ5	X-RAY DIFFRACTION	2.19
4JO9	X-RAY DIFFRACTION	2.5
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-Q9BVL2-F1	58.08	0.23

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): 331

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-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-5578749	Transcriptional regulation by small RNAs
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
R-HSA-9705671	SARS-CoV-2 activates/modulates innate and adaptive immune responses
R-HSA-1855170	IPs transport between nucleus and cytosol

MSigDB gene sets: 305 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, MODULE_255, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MODULE_317, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, KONG_E2F1_TARGETS, CTATGCA_MIR153, GOBP_NUCLEAR_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, REACTOME_HIV_INFECTION

GO Biological Process (4): nucleocytoplasmic transport (GO:0006913), protein transport (GO:0015031), regulation of protein import into nucleus (GO:0042306), mRNA transport (GO:0051028)

GO Molecular Function (5): nuclear localization sequence binding (GO:0008139), structural constituent of nuclear pore (GO:0017056), identical protein binding (GO:0042802), protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (6): nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nuclear membrane (GO:0031965), nucleus (GO:0005634), membrane (GO:0016020), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
SUMO E3 ligases SUMOylate target proteins	4
Transport of Mature mRNAs Derived from Intronless Transcripts	3
Interactions of Rev with host cellular proteins	2
Influenza Infection	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
Cellular response to heat stress	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
nucleus	2
nuclear envelope	2
nuclear transport	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
protein import into nucleus	1
regulation of intracellular protein transport	1
regulation of nucleocytoplasmic transport	1
regulation of protein localization to nucleus	1
RNA transport	1
signal sequence receptor activity	1
structural molecule activity	1
nuclear pore	1
nucleocytoplasmic transport	1
protein binding	1
endomembrane system	1
organelle envelope	1
nuclear protein-containing complex	1
organelle membrane	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
cellular_component	1

Protein interactions and networks

STRING

1132 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUP58	NUP54	Q7Z3B4	999
NUP58	NUP62	P37198	987
NUP58	NUP93	Q8N1F7	912
NUP58	NUTF2	P13662	888
NUP58	NUP153	P49790	854
NUP58	NUP50	Q9UKX7	846
NUP58	NUP205	Q92621	814
NUP58	NUP98	P52948	810
NUP58	NUP214	P35658	805
NUP58	NUP88	Q99567	796
NUP58	NUP85	Q9BW27	791
NUP58	NUP43	Q8NFH3	786
NUP58	NUP188	Q5SRE5	768
NUP58	NUP35	Q8NFH5	747
NUP58	NUP155	O75694	730

IntAct

428 interactions, top by confidence:

A	B	Type	Score
NUP58	NUP54	psi-mi:“MI:0915”(physical association)	0.950
NUP54	NUP58	psi-mi:“MI:0915”(physical association)	0.950
NUP62	NUP58	psi-mi:“MI:0915”(physical association)	0.890
NUP58	NUP62	psi-mi:“MI:0915”(physical association)	0.890
TRAF1	NUP58	psi-mi:“MI:0915”(physical association)	0.840
NUP58	TRAF1	psi-mi:“MI:0915”(physical association)	0.840
ABI3	NUP58	psi-mi:“MI:0915”(physical association)	0.780
NUP58	ABI3	psi-mi:“MI:0915”(physical association)	0.780
HTT	NUP58	psi-mi:“MI:0915”(physical association)	0.740
rep	GTF2F2	psi-mi:“MI:0914”(association)	0.730
COG3	NUP58	psi-mi:“MI:0915”(physical association)	0.720
KRT33B	NUP58	psi-mi:“MI:0915”(physical association)	0.720
NUP58	MIS18A	psi-mi:“MI:0915”(physical association)	0.720
PKNOX1	NUP58	psi-mi:“MI:0915”(physical association)	0.720
NUP58	KRT33B	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (151): NUPL1 (Two-hybrid), NUP62 (Two-hybrid), UBQLN1 (Two-hybrid), ABI3 (Two-hybrid), NUP54 (Two-hybrid), NUPL1 (Affinity Capture-MS), NUPL1 (Affinity Capture-MS), NUPL1 (Affinity Capture-MS), NUPL1 (Affinity Capture-MS), NUPL1 (Proximity Label-MS), NUPL1 (Proximity Label-MS), NUPL1 (Proximity Label-MS), NUPL1 (Two-hybrid), NUPL1 (Two-hybrid), DMD (Affinity Capture-MS)

ESM2 similar proteins: A1DC51, A2R180, A4R8N4, A6S9N4, A7EKZ0, A7Z035, B2AWS3, F4ID16, G0S381, G0S4X2, G0SAK3, G0SBQ3, G0SDP9, G5EEH9, P14907, P48837, P49686, P49793, P52594, P52948, P70581, Q02199, Q02629, Q02630, Q09793, Q0CPW4, Q10168, Q14677, Q2H922, Q2TA45, Q2UDY8, Q54EQ8, Q6C908, Q6CHN0, Q6P0U9, Q6PFD9, Q7JXF5, Q7K0D8, Q7SAT8, Q8GYF7

Diamond homologs: P70581, Q8R332, Q9BVL2, Q9VDV3

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
NUP58	“form complex”	p62_complex	binding
NUP58	“form complex”	NPC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 118 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.

GO biological processes:

GO term	Partners	Fold	FDR
cell division	10	4.4×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	73
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2368 predictions. Top by Δscore:

Variant	Effect	Δscore
13:25307799:A:AG	acceptor_gain	1.0000
13:25307800:A:G	acceptor_gain	1.0000
13:25307801:A:AG	acceptor_gain	1.0000
13:25307802:T:G	acceptor_gain	1.0000
13:25307803:A:AG	acceptor_gain	1.0000
13:25307804:A:AG	acceptor_gain	1.0000
13:25307805:G:GA	acceptor_gain	1.0000
13:25307805:GC:G	acceptor_gain	1.0000
13:25307805:GCA:G	acceptor_gain	1.0000
13:25307946:CAGGT:C	donor_loss	1.0000
13:25307947:AGGTG:A	donor_loss	1.0000
13:25307948:GG:G	donor_loss	1.0000
13:25307949:GTGAG:G	donor_loss	1.0000
13:25308948:C:G	donor_gain	1.0000
13:25313028:AGCAG:A	donor_loss	1.0000
13:25313029:GCAG:G	donor_gain	1.0000
13:25313029:GCAGG:G	donor_loss	1.0000
13:25313030:CAGGT:C	donor_loss	1.0000
13:25313031:AG:A	donor_loss	1.0000
13:25313032:GGTGA:G	donor_loss	1.0000
13:25313033:GT:G	donor_loss	1.0000
13:25313034:T:A	donor_loss	1.0000
13:25313612:A:AG	acceptor_gain	1.0000
13:25313613:G:GG	acceptor_gain	1.0000
13:25313613:GC:G	acceptor_gain	1.0000
13:25313613:GCA:G	acceptor_gain	1.0000
13:25313748:TCAG:T	donor_loss	1.0000
13:25313750:AG:A	donor_loss	1.0000
13:25313751:GG:G	donor_loss	1.0000
13:25313752:GT:G	donor_loss	1.0000

AlphaMissense

3814 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:25326984:T:C	L367P	1.000
13:25327487:T:C	L403P	1.000
13:25320583:T:A	V255D	0.999
13:25320592:T:C	L258P	0.999
13:25320936:A:C	Q265P	0.999
13:25321011:T:C	L290P	0.999
13:25321023:T:C	L294P	0.999
13:25325001:G:C	A322P	0.999
13:25326954:T:C	L357P	0.999
13:25327480:G:C	A401P	0.999
13:25331517:C:A	A465D	0.999
13:25331523:C:A	A467D	0.999
13:25325011:C:A	A325D	0.998
13:25326996:T:C	L371P	0.998
13:25327441:G:C	A388P	0.998
13:25327477:G:C	A400P	0.998
13:25327478:C:A	A400E	0.998
13:25331511:C:A	A463D	0.998
13:25331522:G:C	A467P	0.998
13:25331525:G:C	A468P	0.998
13:25325010:G:C	A325P	0.997
13:25327471:G:C	A398P	0.997
13:25331372:T:G	Y417D	0.997
13:25331475:G:A	G451E	0.997
13:25331486:T:C	F455L	0.997
13:25331488:C:A	F455L	0.997
13:25331488:C:G	F455L	0.997
13:25331516:G:C	A465P	0.997
13:25331520:T:A	M466K	0.997
13:25340122:A:C	R596S	0.997

dbSNP variants (sampled 300 via entrez): RS1000002976 (13:25328759 G>A), RS1000107024 (13:25335429 A>G), RS1000129962 (13:25335107 T>C), RS1000183170 (13:25332029 G>C,T), RS1000380739 (13:25341996 G>A), RS1000402790 (13:25344385 C>A), RS1000457196 (13:25303580 A>G), RS1000473015 (13:25328189 A>T), RS1000663577 (13:25337211 A>T), RS1000744814 (13:25323760 C>A,T), RS1000787050 (13:25302252 C>G,T), RS1000893527 (13:25306076 T>G), RS1000900259 (13:25302055 C>A,G,T), RS1000921062 (13:25330486 A>G), RS1000941335 (13:25301577 C>T)

Disease associations

OMIM: gene MIM:607615 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	4
trichostatin A	affects cotreatment, decreases expression, increases expression	3
sodium arsenite	decreases expression, increases abundance, increases expression	3
Acetaminophen	increases expression	3
Arsenic	increases abundance, increases expression, affects expression, decreases expression	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	3
bisphenol A	decreases expression, increases expression	2
Tobacco Smoke Pollution	increases expression	2
GSK-J4	increases expression	1
N(6)-(delta(2)-isopentenyl)adenine	increases expression	1
methylmercuric chloride	increases expression	1
potassium perchlorate	increases expression	1
titanium dioxide	increases expression	1
arsenite	affects binding, decreases reaction	1
methylparaben	increases expression	1
cobaltous chloride	increases expression	1
manganese chloride	increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	increases expression	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
NSC 689534	affects binding, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Caffeine	decreases phosphorylation	1

Clinical trials (associated diseases)

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