PXDNL

Summary

PXDNL (peroxidasin like, HGNC:26359) is a protein-coding gene on chromosome 8q11.22-q11.23, encoding Probable oxidoreductase PXDNL (A1KZ92). Probable oxidoreductase.

Predicted to enable heme binding activity and peroxidase activity. Predicted to be involved in hydrogen peroxide catabolic process. Predicted to be located in endoplasmic reticulum; extracellular region; and plasma membrane. Predicted to be active in extracellular space.

Source: NCBI Gene 137902 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 343 total
• MANE Select transcript: NM_144651

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26359
Approved symbol	PXDNL
Name	peroxidasin like
Location	8q11.22-q11.23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25471, PMR1
Ensembl gene	ENSG00000147485
Ensembl biotype	protein_coding
OMIM	615904
Entrez	137902

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000356297, ENST00000519183, ENST00000522628, ENST00000522933, ENST00000894548, ENST00000894549, ENST00000894550, ENST00000894551, ENST00000894552, ENST00000967843, ENST00000967844, ENST00000967845, ENST00000967846, ENST00000967847

RefSeq mRNA: 1 — MANE Select: NM_144651 NM_144651

CCDS: CCDS47855

Canonical transcript exons

ENST00000356297 — 23 exons

Exon	Start	End
ENSE00000980331	51374597	51374731
ENSE00000980334	51345833	51345947
ENSE00001019578	51339624	51339753
ENSE00001319261	51371873	51372081
ENSE00001415871	51408067	51409561
ENSE00001539425	51411250	51411407
ENSE00001539427	51413150	51413258
ENSE00001539430	51423575	51423731
ENSE00001539433	51426646	51426758
ENSE00001539434	51447004	51447162
ENSE00001539436	51449002	51449118
ENSE00001539439	51453519	51453785
ENSE00001539443	51457498	51457667
ENSE00001539449	51474972	51475141
ENSE00001539450	51483643	51483714
ENSE00001539451	51499699	51499770
ENSE00001539453	51556840	51556911
ENSE00001539455	51592627	51592698
ENSE00001539457	51654689	51654760
ENSE00001539460	51809181	51809445
ENSE00001723174	51472187	51472304
ENSE00003584595	51320784	51320897
ENSE00003845206	51319577	51320022

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 95.28.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8444 / max 129.1540, expressed in 148 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93017	0.7827	141
93016	0.0477	31
93013	0.0139	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	95.28	gold quality
cardiac atrium	UBERON:0002081	93.92	gold quality
apex of heart	UBERON:0002098	93.91	gold quality
right atrium auricular region	UBERON:0006631	93.86	gold quality
left ventricle myocardium	UBERON:0006566	93.31	gold quality
heart left ventricle	UBERON:0002084	90.88	gold quality
cardiac ventricle	UBERON:0002082	90.76	gold quality
heart	UBERON:0000948	88.24	gold quality
heart right ventricle	UBERON:0002080	87.13	gold quality
myocardium	UBERON:0002349	86.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.23	gold quality
vena cava	UBERON:0004087	68.79	silver quality
left coronary artery	UBERON:0001626	65.57	gold quality
right coronary artery	UBERON:0001625	65.55	gold quality
left testis	UBERON:0004533	65.54	gold quality
testis	UBERON:0000473	65.04	gold quality
coronary artery	UBERON:0001621	65.02	gold quality
corpus epididymis	UBERON:0004359	62.94	gold quality
right testis	UBERON:0004534	62.41	gold quality
amniotic fluid	UBERON:0000173	61.70	gold quality
pancreatic ductal cell	CL:0002079	59.72	silver quality
hindlimb stylopod muscle	UBERON:0004252	59.69	gold quality
synovial joint	UBERON:0002217	58.24	gold quality
muscle of leg	UBERON:0001383	58.19	gold quality
cauda epididymis	UBERON:0004360	57.87	gold quality
gastrocnemius	UBERON:0001388	57.39	gold quality
layer of synovial tissue	UBERON:0007616	54.64	silver quality
epithelial cell of pancreas	CL:0000083	54.62	gold quality
muscle tissue	UBERON:0002385	54.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.56
E-MTAB-11268	no	1836.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting PXDNL, 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-3646	100.00	73.56	5283
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-4720-3P	98.50	68.88	988
HSA-MIR-495-5P	97.62	68.28	682
HSA-MIR-148B-5P	97.29	66.30	992
HSA-MIR-6874-3P	97.29	66.34	975
HSA-MIR-600	97.07	66.73	1259
HSA-MIR-644A	96.02	66.52	786

Literature-anchored findings (GeneRIF, showing 4)

• The human PXDN endonuclease stimulates cell motility by down regulating miR-200 family microRNAs. (PMID:27257068)
• the PMR1 pump, a Golgi resident Ca(2+)/Mn(2+) P-type ATPase, plays a pivotal role in regulating the intracellular levels of calcium and manganese ions. (PMID:28780169)
• We also observe evidence for an excess burden of rare, predicted loss-of-function variation in PXDNL and BMS1- two genes relevant to the broader laterality phenotype. These findings highlight potential new genes in the development of laterality defects, and suggest extensive locus heterogeneity and complex genetic models in this class of birth defects. (PMID:30622330)
• PXDNL activates the motility of urothelial bladder carcinoma cells through the Wnt/beta-catenin pathway and has a prognostic value. (PMID:36493879)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	Pxd	FBGN0004577
drosophila_melanogaster	Pxn	FBGN0011828
drosophila_melanogaster	CG4009	FBGN0038469
drosophila_melanogaster	cysu	FBGN0038511
caenorhabditis_elegans		WBGENE00004256
caenorhabditis_elegans		WBGENE00004257
caenorhabditis_elegans		WBGENE00016700
caenorhabditis_elegans		WBGENE00019613

Paralogs (5): MPO (ENSG00000005381), TPO (ENSG00000115705), EPX (ENSG00000121053), PXDN (ENSG00000130508), LPO (ENSG00000167419)

Protein

Protein identifiers

Probable oxidoreductase PXDNL — A1KZ92 (reviewed: A1KZ92)

Alternative names: Cardiac peroxidase, Inactive peroxidasin-like protein, Polysomal ribonuclease 1, Vascular peroxidase 2

All UniProt accessions (3): A1KZ92, H0YAV0, K4DIA6

UniProt curated annotations — full annotation on UniProt →

Function. Probable oxidoreductase. Lacks peroxidase activity. Inhibits the peroxidase activity of PXDN through its interaction. Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs.

Subunit / interactions. Interacts with PXDN; this interaction inhibits the peroxidase activity of PXDN.

Subcellular location. Secreted. Endoplasmic reticulum. Cell membrane Cytoplasm.

Tissue specificity. The 57 kDa isoform PMR1 is the only form detected at protein levels in human cell lines. Expressed in heart.

Post-translational modifications. Phosphorylation by SRC on tyrosine residues is required for targeting to polysomes.

Induction. Increased by Angiotensin-2.

Similarity. Belongs to the peroxidase family. XPO subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
A1KZ92-1	1	yes
A1KZ92-2	2
A1KZ92-3	PMR1

RefSeq proteins (1): NP_653252* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000483	Cys-rich_flank_reg_C	Domain
IPR001007	VWF_dom	Domain
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR010255	Haem_peroxidase_sf	Homologous_superfamily
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR019791	Haem_peroxidase_animal	Family
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR034824	Peroxidasin_peroxidase	Domain
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR037120	Haem_peroxidase_sf_animal	Homologous_superfamily

Pfam: PF03098, PF07679, PF13855, PF13927, PF23334

Enzyme classification (BRENDA):

• EC 1.11.1.7 — peroxidase (BRENDA: 115 organisms, 442 substrates, 319 inhibitors, 337 Km, 97 kcat entries)

Substrate kinetics (BRENDA)

80 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
H2O2	0.004–30	90
GUAIACOL	0.0006–98.61	55
2,2’-AZINOBIS(3-ETHYLBENZTHIAZOLINE-6-SULFONIC A	0.16–5.4	12
O-DIANISIDINE	0.137–12.56	11
2,2’-AZINO-BIS-(3-ETHYLBENZTHIAZOLE-6-SULFONIC A	0.023–1.6	10
O-PHENYLENEDIAMINE	0.38–9	9
3,3’,5,5’-TETRAMETHYLBENZIDINE	0.045–0.2	8
FERULIC ACID	0.01–1.5	8
CAFFEIC ACID	0.08–1.9	7
CHLOROGENIC ACID	0.15–0.64	7
PYROGALLOL	0.29–55.4	7
MN2+	0.11–0.351	6
ESCULETIN	0.0052–2	5
2,2’-AZINO-BIS(3-ETHYLBENZTHIAZOLE-6-SULFONIC AC	0.036–10.4	4
PHENOL	1.12–9.45	4

UniProt features (46 total): disulfide bond 10, domain 7, sequence variant 7, binding site 6, repeat 5, splice variant 4, sequence conflict 2, signal peptide 1, chain 1, active site 1, site 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A1KZ92-F1	81.78	0.46

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 812 (proton acceptor); 960 (transition state stabilizer)

Ligand- & substrate-binding residues (6): 813; 891; 893; 895; 897; 1057 (axial binding residue)

Disulfide bonds (10): 255–305, 351–398, 440–488, 532–580, 718–734, 832–842, 836–859, 944–953, 1160–1217, 1258–1284

Glycosylation sites (1): 387

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): GOMF_ENDONUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, GOBP_HYDROGEN_PEROXIDE_CATABOLIC_PROCESS, GOBP_EXTRACELLULAR_MATRIX_ASSEMBLY, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, GOBP_DETOXIFICATION, GOMF_ANTIOXIDANT_ACTIVITY, GOBP_HYDROGEN_PEROXIDE_METABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PEROXIDE_AS_ACCEPTOR, GOBP_RESPONSE_TO_TOXIC_SUBSTANCE, GOBP_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_BASEMENT_MEMBRANE_ORGANIZATION, chr8q11, GOMF_TETRAPYRROLE_BINDING

GO Biological Process (5): response to oxidative stress (GO:0006979), hydrogen peroxide catabolic process (GO:0042744), system development (GO:0048731), basement membrane assembly (GO:0070831), cellular oxidant detoxification (GO:0098869)

GO Molecular Function (10): endonuclease activity (GO:0004519), peroxidase activity (GO:0004601), hydrolase activity (GO:0016787), heme binding (GO:0020037), metal ion binding (GO:0046872), nuclease activity (GO:0004518), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on peroxide as acceptor (GO:0016684), lactoperoxidase activity (GO:0140825)

GO Cellular Component (7): obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), extracellular matrix (GO:0031012), extracellular region (GO:0005576), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
catalytic activity	2
response to stress	1
catabolic process	1
hydrogen peroxide metabolic process	1
multicellular organism development	1
anatomical structure development	1
basement membrane organization	1
extracellular matrix assembly	1
cellular detoxification	1
nuclease activity	1
antioxidant activity	1
oxidoreductase activity, acting on peroxide as acceptor	1
tetrapyrrole binding	1
cation binding	1
catalytic activity, acting on a nucleic acid	1
binding	1
oxidoreductase activity	1
peroxidase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
external encapsulating structure	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

9014 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PXDNL	PXDN	Q92626	981
PXDNL	ALB	P02768	935
PXDNL	ACTB	P02570	925
PXDNL	GAPDH	P00354	924
PXDNL	CASP3	P42574	918
PXDNL	CYCS	P00001	889
PXDNL	ANXA5	P08758	887
PXDNL	AKT1	P31749	873
PXDNL	CCK	P06307	856
PXDNL	MAPK3	P27361	846
PXDNL	BCL2	P10415	845
PXDNL	EGF	P01133	830
PXDNL	STAT3	P40763	824
PXDNL	TP53	P04637	819
PXDNL	INS	P01308	814

IntAct

17 interactions, top by confidence:

A	B	Type	Score
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
KLHL10	PXDNL	psi-mi:“MI:0914”(association)	0.530
GPS1	PXDNL	psi-mi:“MI:0914”(association)	0.530
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
KBTBD7	PXDNL	psi-mi:“MI:0914”(association)	0.350
RHOBTB1	PXDNL	psi-mi:“MI:0914”(association)	0.350
KCTD6	PXDNL	psi-mi:“MI:0914”(association)	0.350
COPS2	PXDNL	psi-mi:“MI:0914”(association)	0.350
OSTF1	PXDNL	psi-mi:“MI:0914”(association)	0.350
KCTD17	PXDNL	psi-mi:“MI:0914”(association)	0.350
KLHL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
KCTD9	PXDNL	psi-mi:“MI:0914”(association)	0.350
GPC3	PXDNL	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): PXDNL (Affinity Capture-MS), CARM1 (Co-fractionation), PXDNL (Co-fractionation), SPTAN1 (Co-fractionation), PXDNL (Affinity Capture-MS), PXDNL (Affinity Capture-MS), PXDNL (Synthetic Lethality), PXDNL (Affinity Capture-MS), PXDNL (Affinity Capture-MS), PXDNL (Affinity Capture-MS), PXDNL (Affinity Capture-MS), PXDNL (Affinity Capture-MS), PXDNL (Affinity Capture-MS), PXDNL (Affinity Capture-MS), PXDNL (Affinity Capture-MS)

ESM2 similar proteins: A1A5Y0, A1KZ92, A2AJ76, B0S5N4, D3YXG0, D3ZPX4, F1MMS9, O00187, O55005, O60500, O75093, O88279, O88280, P11627, P17852, P26006, P32004, P51805, P57110, P59511, P70208, P85171, Q05695, Q0PMG2, Q13219, Q3UH53, Q4KMG0, Q62470, Q62918, Q7Z5N4, Q80TR4, Q8AV58, Q8AXZ4, Q8CIY2, Q8HZK2, Q8HZK3, Q8NDA2, Q8R4K8, Q8TE57, Q91WP0

Diamond homologs: A0A1Y9G8H0, A0A452E9Y6, A1KZ92, A4IGL7, A5JUY8, B3A0P3, B3A0Q8, G5EG78, H2A0M7, O61213, P09933, P11247, P11678, P22079, P80025, P82600, P90820, Q01603, Q20616, Q23490, Q3UQ28, Q5SW46, Q6TMK4, Q7QH73, Q8CIY2, Q8HYB7, Q8R481, Q92626, Q9ES45, Q9VEG6, Q9VZZ4, A8WQH2, O02768, P05164, P07202, P14650, P35355, P35419, P49290, Q1ENI8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 15 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
Neddylation	7	30.1×	3e-08
Antigen processing: Ubiquitination & Proteasome degradation	5	16.9×	9e-05

GO biological processes:

GO term	Partners	Fold	FDR
proteasome-mediated ubiquitin-dependent protein catabolic process	6	22.4×	1e-05
protein ubiquitination	5	14.8×	8e-04

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	253
Likely benign	30
Benign	39

Top pathogenic / likely-pathogenic (0)

SpliceAI

6513 predictions. Top by Δscore:

Variant	Effect	Δscore
8:51372078:GAACC:G	acceptor_loss	1.0000
8:51372079:AACCT:A	acceptor_loss	1.0000
8:51372080:ACCT:A	acceptor_loss	1.0000
8:51372081:CC:C	acceptor_loss	1.0000
8:51372082:C:A	acceptor_loss	1.0000
8:51372083:T:A	acceptor_loss	1.0000
8:51372094:C:CT	acceptor_gain	1.0000
8:51372094:C:T	acceptor_gain	1.0000
8:51372095:A:T	acceptor_gain	1.0000
8:51374131:T:TA	donor_gain	1.0000
8:51411244:GCTGA:G	donor_loss	1.0000
8:51411245:CTGA:C	donor_loss	1.0000
8:51411246:TGA:T	donor_loss	1.0000
8:51411247:GAC:G	donor_loss	1.0000
8:51411248:A:C	donor_loss	1.0000
8:51411249:C:T	donor_loss	1.0000
8:51411254:G:A	donor_gain	1.0000
8:51411403:GTTTT:G	acceptor_gain	1.0000
8:51411404:TTTT:T	acceptor_gain	1.0000
8:51411405:TTT:T	acceptor_gain	1.0000
8:51411406:TT:T	acceptor_gain	1.0000
8:51411407:TC:T	acceptor_loss	1.0000
8:51411408:C:A	acceptor_loss	1.0000
8:51411408:C:CC	acceptor_gain	1.0000
8:51413148:A:AC	donor_gain	1.0000
8:51413149:C:CC	donor_gain	1.0000
8:51414456:A:AC	donor_gain	1.0000
8:51414457:C:CC	donor_gain	1.0000
8:51423570:CCTA:C	donor_loss	1.0000
8:51423571:CTAC:C	donor_loss	1.0000

AlphaMissense

9588 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:51426652:C:A	W544C	0.997
8:51426652:C:G	W544C	0.997
8:51426654:A:G	W544R	0.997
8:51426654:A:T	W544R	0.997
8:51472200:A:G	W267R	0.997
8:51472200:A:T	W267R	0.997
8:51453681:A:G	W363R	0.996
8:51453681:A:T	W363R	0.996
8:51457573:A:C	Y303D	0.996
8:51472198:C:A	W267C	0.995
8:51472198:C:G	W267C	0.995
8:51449014:A:G	W452R	0.994
8:51449014:A:T	W452R	0.994
8:51453679:C:A	W363C	0.994
8:51453679:C:G	W363C	0.994
8:51457611:A:G	L290P	0.993
8:51453576:A:G	C398R	0.992
8:51453717:A:G	C351R	0.992
8:51499755:G:C	N132K	0.992
8:51499755:G:T	N132K	0.992
8:51556896:A:C	N108K	0.992
8:51556896:A:T	N108K	0.992
8:51426653:C:G	W544S	0.991
8:51453569:G:T	A400D	0.991
8:51449012:C:A	W452C	0.990
8:51449012:C:G	W452C	0.990
8:51453574:A:C	C398W	0.990
8:51556840:A:G	L127P	0.990
8:51654689:A:G	L79P	0.990
8:51453570:C:G	A400P	0.989

dbSNP variants (sampled 300 via entrez): RS1000017316 (8:51325592 C>T), RS1000017879 (8:51562385 C>CA), RS1000019887 (8:51731545 T>C), RS1000025867 (8:51467395 C>T), RS1000035727 (8:51481861 G>C), RS1000038037 (8:51650200 T>C), RS1000038284 (8:51370256 C>A,T), RS1000041579 (8:51446690 T>C), RS1000043455 (8:51618777 AATG>A), RS1000045573 (8:51725199 A>G), RS1000048825 (8:51682393 C>T), RS1000063785 (8:51655818 G>T), RS1000069765 (8:51784858 C>T), RS1000079522 (8:51332614 A>T), RS1000081696 (8:51730146 T>C)

Disease associations

OMIM: gene MIM:615904 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST002592_8	Neuritic plaque	5.000000e-06
GCST003124_24	Mild influenza (H1N1) infection	2.000000e-08
GCST004407_8	Neurocognitive impairment in HIV-1 infection (dichotomous)	8.000000e-06
GCST007094_154	Diastolic blood pressure	1.000000e-07
GCST007096_166	Pulse pressure	7.000000e-07
GCST007099_31	Systolic blood pressure	4.000000e-11
GCST007559_22	Sleep duration (short sleep)	2.000000e-08
GCST008156_67	Hip circumference adjusted for BMI	4.000000e-06
GCST009600_72	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	3.000000e-08
GCST010276_3	Renal underexcretion gout	6.000000e-07
GCST011739_5	Cutaneous leishmaniasis	1.000000e-06

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0006798	neuritic plaque measurement
EFO:1001488	influenza A (H1N1)
EFO:0007998	cognitive impairment measurement
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
bisphenol A	affects cotreatment, decreases methylation	1
sodium arsenite	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	decreases methylation	1
Resveratrol	decreases expression, affects cotreatment	1
Fulvestrant	affects cotreatment, decreases methylation	1
Doxorubicin	decreases expression	1
Folic Acid	decreases expression	1
Methapyrilene	increases methylation	1
Ozone	increases expression, increases abundance	1
Paraquat	affects cotreatment, increases expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	increases expression, affects cotreatment	1
Aflatoxin B1	affects methylation	1
Soot	increases abundance, increases expression	1

Clinical trials (associated diseases)

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