NEURL1

Summary

NEURL1 (neuralized E3 ubiquitin protein ligase 1, HGNC:7761) is a protein-coding gene on chromosome 10q24.33, encoding E3 ubiquitin-protein ligase NEURL1 (O76050). Plays a role in hippocampal-dependent synaptic plasticity, learning and memory.

Predicted to enable translation factor activity, non-nucleic acid binding and ubiquitin protein ligase activity. Involved in negative regulation of Notch signaling pathway; negative regulation of cell population proliferation; and positive regulation of apoptotic process. Located in plasma membrane.

Source: NCBI Gene 9148 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 90 total
• MANE Select transcript: NM_004210

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7761
Approved symbol	NEURL1
Name	neuralized E3 ubiquitin protein ligase 1
Location	10q24.33
Locus type	gene with protein product
Status	Approved
Aliases	h-neu, RNF67, neu-1
Ensembl gene	ENSG00000107954
Ensembl biotype	protein_coding
OMIM	603804
Entrez	9148

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000369780, ENST00000437579, ENST00000455386, ENST00000465048, ENST00000945279

RefSeq mRNA: 1 — MANE Select: NM_004210 NM_004210

CCDS: CCDS7551

Canonical transcript exons

ENST00000369780 — 6 exons

Exon	Start	End
ENSE00000723390	103584536	103585225
ENSE00000723391	103589514	103589660
ENSE00001161351	103590134	103592546
ENSE00001450873	103493705	103494472
ENSE00003501364	103570872	103571113
ENSE00003789384	103571501	103571822

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 96.28.

FANTOM5 (CAGE): breadth broad, TPM avg 7.7948 / max 213.5105, expressed in 853 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106822	1.6420	215
106835	1.4858	245
106828	1.0996	343
106816	0.6952	204
106832	0.5405	254
106823	0.5116	150
106815	0.4539	131
106817	0.3407	153
106827	0.2241	100
106818	0.1945	86

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	96.28	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.00	gold quality
gastrocnemius	UBERON:0001388	94.80	gold quality
cerebellar hemisphere	UBERON:0002245	94.07	gold quality
cerebellar cortex	UBERON:0002129	93.94	gold quality
right frontal lobe	UBERON:0002810	93.79	gold quality
muscle of leg	UBERON:0001383	93.44	gold quality
cerebellum	UBERON:0002037	92.52	gold quality
cingulate cortex	UBERON:0003027	92.15	gold quality
anterior cingulate cortex	UBERON:0009835	92.15	gold quality
prefrontal cortex	UBERON:0000451	91.09	gold quality
nucleus accumbens	UBERON:0001882	90.75	gold quality
muscle organ	UBERON:0001630	90.16	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.99	gold quality
amygdala	UBERON:0001876	89.85	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.85	gold quality
Brodmann (1909) area 10	UBERON:0013541	89.82	gold quality
frontal cortex	UBERON:0001870	89.37	gold quality
neocortex	UBERON:0001950	89.17	gold quality
mucosa of transverse colon	UBERON:0004991	88.11	gold quality
putamen	UBERON:0001874	87.50	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.47	gold quality
cerebral cortex	UBERON:0000956	87.31	gold quality
caudate nucleus	UBERON:0001873	87.23	gold quality
telencephalon	UBERON:0001893	86.91	gold quality
forebrain	UBERON:0001890	85.96	gold quality
brain	UBERON:0000955	85.94	gold quality
body of uterus	UBERON:0009853	85.77	gold quality
cortical plate	UBERON:0005343	85.58	gold quality
central nervous system	UBERON:0001017	85.47	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	21.19
E-CURD-119	yes	18.16
E-CURD-114	yes	11.42
E-ANND-3	yes	7.16
E-ENAD-27	no	3.31

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HEY1

miRNA regulators (miRDB)

87 targeting NEURL1, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-1915-3P	99.58	66.79	1988

Literature-anchored findings (GeneRIF, showing 8)

• NEURL1 expression was downregulated in medulloblastoma compared to normal cerebellar tissue with lowest expression levels in hedgehog-activated tumors; conclude NEURL1 is candidate tumor suppressor in MB at least in part through effects on Notch pathway (PMID:20847082)
• This is a novel gene implicated in atrial fibrillation (PMID:25124494)
• Fe65 negatively regulates Jagged1 signaling by decreasing Jagged1 protein stability through the E3 ligase Neuralized-like 1. (PMID:26276215)
• NEURL rs12415501 and CAND2 rs4642101 are significantly associated with postoperative atrial fibrillation susceptibility after coronary artery bypass grafting among Chinese population (PMID:27203392)
• Significant allelic and genotypic associations were identified between NEURL variant rs6584555 and GJA1 variant rs13216675 and Atrial fibrillation (AF). Significant genotypic association was found between CUX2 SNP rs6490029 and AF (PMID:29459676)
• Study found no association between NEURL1 rs6584555 and increased risk of atrial fibrillation. (PMID:31039368)
• Neuralized family member NEURL1 is a ubiquitin ligase for the cGMP-specific phosphodiesterase 9A. (PMID:31068605)
• Neuritin affects the activity of neuralized-like 1 by promoting degradation and weakening its affinity for substrate. (PMID:37249336)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	neurl1aa	ENSDARG00000069438
mus_musculus	Neurl1a	ENSMUSG00000006435
rattus_norvegicus	Neurl1	ENSRNOG00000020339

Paralogs (3): NEURL3 (ENSG00000163121), NEURL1B (ENSG00000214357), NEURL4 (ENSG00000215041)

Protein

Protein identifiers

E3 ubiquitin-protein ligase NEURL1 — O76050 (reviewed: O76050)

Alternative names: Neuralized-like protein 1A, RING finger protein 67, RING-type E3 ubiquitin transferase NEURL1

All UniProt accessions (3): O76050, X6RBV8, X6RLA8

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in hippocampal-dependent synaptic plasticity, learning and memory. Involved in the formation of spines and functional synaptic contacts by modulating the translational activity of the cytoplasmic polyadenylation element-binding protein CPEB3. Promotes ubiquitination of CPEB3, and hence induces CPEB3-dependent mRNA translation activation of glutamate receptor GRIA1 and GRIA2. Can function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1 (in vitro), thereby regulating the Notch pathway. Acts as a tumor suppressor; inhibits malignant cell transformation of medulloblastoma (MB) cells by inhibiting the Notch signaling pathway.

Subunit / interactions. Interacts with CPEB3 (via N-terminal domain); the interaction increases CPEB3 ubiquitination. Interacts with DLL1.

Subcellular location. Cytoplasm. Perinuclear region. Cell membrane. Perikaryon. Cell projection. Dendrite. Postsynaptic density.

Tissue specificity. Expressed in brain, testis, pituitary gland, pancreas and bone marrow. Also poorly expressed in malignant astrocytomas and several neuroectodermal tumor cell lines. Weakly expressed in medulloblastoma (MB) compared with normal cerebellar tissues.

Post-translational modifications. Myristoylation is a determinant of membrane targeting.

Induction. Down-regulated in medulloblastoma (MB).

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
O76050-1	1	yes
O76050-2	2

RefSeq proteins (1): NP_004201* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR006573	NHR_dom	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR037962	Neuralized	Family
IPR043136	B30.2/SPRY_sf	Homologous_superfamily

Pfam: PF07177, PF13920

UniProt features (13 total): sequence conflict 4, domain 2, region of interest 2, initiator methionine 1, chain 1, zinc finger region 1, lipid moiety-binding region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O76050-F1	71.33	0.29

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-2122948	Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606	Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2691232	Constitutive Signaling by NOTCH1 HD Domain Mutants
R-HSA-2894862	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096	NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-9013507	NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-157118	Signaling by NOTCH
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-1980143	Signaling by NOTCH1
R-HSA-1980145	Signaling by NOTCH2
R-HSA-2644602	Signaling by NOTCH1 PEST Domain Mutants in Cancer
R-HSA-2644603	Signaling by NOTCH1 in Cancer
R-HSA-2691230	Signaling by NOTCH1 HD Domain Mutants in Cancer
R-HSA-2894858	Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-9012852	Signaling by NOTCH3

MSigDB gene sets: 217 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, MORF_RAGE, GOBP_DENDRITE_DEVELOPMENT, RNGTGGGC_UNKNOWN, REACTOME_SIGNALING_BY_NOTCH, MORF_FLT1, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, TGCGCANK_UNKNOWN, GOBP_RESPONSE_TO_ACID_CHEMICAL, GOBP_REGULATION_OF_NEURONAL_SYNAPTIC_PLASTICITY, LFA1_Q6, GCANCTGNY_MYOD_Q6, MODULE_45

GO Biological Process (20): protein monoubiquitination (GO:0006513), Notch signaling pathway (GO:0007219), sperm axoneme assembly (GO:0007288), nervous system development (GO:0007399), skeletal muscle tissue development (GO:0007519), lactation (GO:0007595), negative regulation of cell population proliferation (GO:0008285), positive regulation of apoptotic process (GO:0043065), negative regulation of Notch signaling pathway (GO:0045746), positive regulation of long-term neuronal synaptic plasticity (GO:0048170), positive regulation of filopodium assembly (GO:0051491), positive regulation of dendritic spine development (GO:0060999), cellular response to amino acid stimulus (GO:0071230), positive regulation of synapse maturation (GO:0090129), regulation of postsynapse assembly (GO:0150052), regulation of translation (GO:0006417), regulation of cell communication (GO:0010646), protein ubiquitination (GO:0016567), regulation of signaling (GO:0023051), flagellated sperm motility (GO:0030317)

GO Molecular Function (7): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), translation regulator activity (GO:0045182), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (12): plasma membrane (GO:0005886), postsynaptic density (GO:0014069), dendritic spine (GO:0043197), perikaryon (GO:0043204), perinuclear region of cytoplasm (GO:0048471), apical dendrite (GO:0097440), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), membrane (GO:0016020), dendrite (GO:0030425), cell projection (GO:0042995), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Signaling by NOTCH	3
Signaling by NOTCH1 in Cancer	3
Signaling by NOTCH1	1
Signaling by NOTCH1 PEST Domain Mutants in Cancer	1
Signaling by NOTCH1 HD Domain Mutants in Cancer	1
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	1
Signaling by NOTCH2	1
Signaling by NOTCH3	1
Signal Transduction	1
Diseases of signal transduction by growth factor receptors and second messengers	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
positive regulation of developmental process	2
dendrite	2
protein ubiquitination	1
cell surface receptor signaling pathway	1
developmental process involved in reproduction	1
axoneme assembly	1
sperm flagellum assembly	1
system development	1
striated muscle tissue development	1
skeletal muscle organ development	1
body fluid secretion	1
mammary gland development	1
milk ejection reflex	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
negative regulation of signal transduction	1
regulation of long-term neuronal synaptic plasticity	1
positive regulation of neurogenesis	1
filopodium assembly	1
regulation of filopodium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
dendritic spine development	1
regulation of dendritic spine development	1
response to amino acid	1
cellular response to acid chemical	1
positive regulation of cellular component organization	1
synapse maturation	1
regulation of synapse maturation	1
regulation of synapse assembly	1
postsynapse assembly	1
regulation of postsynapse organization	1
translation	1
post-transcriptional regulation of gene expression	1

Protein interactions and networks

STRING

1164 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NEURL1	CAND2	O75155	635
NEURL1	CISH	Q9NSE2	589
NEURL1	JAG1	P78504	571
NEURL1	MIB2	Q96AX9	508
NEURL1	NCAN	O14594	506
NEURL1	CUX2	O14529	477
NEURL1	ZFHX3	Q15911	476
NEURL1	SYNPO2L	Q9H987	471
NEURL1	C21orf91	Q9NYK6	441
NEURL1	PITX2	Q99697	427
NEURL1	DLL4	Q9NR61	418
NEURL1	ZNRF2	Q8NHG8	416
NEURL1	SLC25A21	Q9BQT8	412
NEURL1	GAD1	Q99259	411
NEURL1	ZNRF1	Q8ND25	403

IntAct

7 interactions, top by confidence:

A	B	Type	Score
NEURL1	CKAP4	psi-mi:“MI:0915”(physical association)	0.400
NEURL1	YWHAE	psi-mi:“MI:0915”(physical association)	0.400
SFN	NEURL1	psi-mi:“MI:0915”(physical association)	0.400
NEURL1	UBE2H	psi-mi:“MI:0915”(physical association)	0.370
UBE2N	NEURL1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (29): ARFIP2 (Co-fractionation), Jag1 (Affinity Capture-Western), APBB1 (Affinity Capture-Western), NEURL1 (PCA), NEURL1 (PCA), NEURL1 (Affinity Capture-Western), NEURL1 (PCA), NEURL1 (Affinity Capture-Western), NEURL1 (Co-localization), PDE9A (Affinity Capture-Western), CKAP4 (Proximity Label-MS), NEURL1 (Affinity Capture-MS), NEURL1 (Affinity Capture-RNA), NEURL1 (Affinity Capture-RNA), NEURL1 (Synthetic Lethality)

ESM2 similar proteins: A1L0Y2, A2ALK8, A2ARP1, A2Z8S0, A4IFG2, A8XT88, B1AVZ0, B3M1E1, B3P4N5, B4GZ20, B4HJC0, B4KA23, B4LVS8, B4NKI9, B4PVH6, B4QVW6, M9MRI4, O35242, O76050, P0C644, P26045, Q18223, Q29B63, Q29RQ5, Q3MHZ2, Q3UJK4, Q571F5, Q5M870, Q5NCX5, Q5PQR3, Q5R881, Q6PFW1, Q6PJ21, Q75G68, Q8BVR6, Q8C726, Q8CJC5, Q8R516, Q91YL3, Q91ZY8

Diamond homologs: A8MQ27, O60291, O76050, Q0MW30, Q0WS06, Q3TEL6, Q4FE47, Q557E7, Q5M870, Q5XIQ4, Q6INH1, Q6R7D2, Q7ZUL9, Q84ME1, Q8CJC5, Q8VCM5, Q923S6, Q94HV7, Q96EH8, Q96PX1, Q9BR09, Q9D074, Q9D0S4, Q8L7N4, A1L3F4, Q69Z36, Q6ZN04, Q6ZQM0, Q8CIN9, Q8WZ73, A1E2V0, A9JTP3, A9ULZ2, D3ZDI6, O08863, O62640, P41436, P98170, Q05AK5, Q13489

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	NEURL1	ubiquitination
NEURL1	“down-regulates quantity by destabilization”	PDE9A	polyubiquitination
NEURL1	“up-regulates activity”	CPEB3	ubiquitination
NEURL1	“down-regulates quantity by destabilization”	JAG1	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	87
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1335 predictions. Top by Δscore:

Variant	Effect	Δscore
10:103494469:AAAG:A	donor_loss	0.9900
10:103494471:AGGT:A	donor_loss	0.9900
10:103494473:G:A	donor_loss	0.9900
10:103494474:T:G	donor_loss	0.9900
10:103515413:A:T	donor_gain	0.9900
10:103570866:TTGCA:T	acceptor_loss	0.9900
10:103570867:TGCAG:T	acceptor_loss	0.9900
10:103570868:GCAGA:G	acceptor_loss	0.9900
10:103570869:CA:C	acceptor_loss	0.9900
10:103570870:A:AG	acceptor_gain	0.9900
10:103570870:A:C	acceptor_loss	0.9900
10:103570871:G:GG	acceptor_gain	0.9900
10:103570871:GA:G	acceptor_gain	0.9900
10:103570871:GAC:G	acceptor_gain	0.9900
10:103570871:GACT:G	acceptor_gain	0.9900
10:103571099:C:T	donor_gain	0.9900
10:103571818:GCTTG:G	donor_gain	0.9900
10:103571819:CTTGG:C	donor_loss	0.9900
10:103571820:TTGG:T	donor_loss	0.9900
10:103571821:TGG:T	donor_loss	0.9900
10:103571822:GGT:G	donor_loss	0.9900
10:103571823:G:GC	donor_loss	0.9900
10:103571823:G:GG	donor_gain	0.9900
10:103571824:TGAG:T	donor_loss	0.9900
10:103571825:GAGT:G	donor_loss	0.9900
10:103585223:TCGG:T	donor_loss	0.9900
10:103585224:CGGT:C	donor_loss	0.9900
10:103585225:GGTG:G	donor_loss	0.9900
10:103585226:G:A	donor_loss	0.9900
10:103585227:TGAG:T	donor_loss	0.9900

AlphaMissense

3716 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:103570980:T:C	F65S	1.000
10:103570997:G:C	G71R	1.000
10:103570997:G:T	G71C	1.000
10:103570998:G:T	G71V	1.000
10:103571034:T:A	V83D	1.000
10:103571040:G:C	R85T	1.000
10:103571040:G:T	R85M	1.000
10:103571041:G:C	R85S	1.000
10:103571041:G:T	R85S	1.000
10:103571051:T:C	F89L	1.000
10:103571052:T:C	F89S	1.000
10:103571052:T:G	F89C	1.000
10:103571053:C:A	F89L	1.000
10:103571053:C:G	F89L	1.000
10:103571070:T:C	F95S	1.000
10:103571072:A:C	S96R	1.000
10:103571074:C:A	S96R	1.000
10:103571074:C:G	S96R	1.000
10:103571079:G:C	R98P	1.000
10:103571085:T:A	V100D	1.000
10:103571109:T:C	L108P	1.000
10:103571543:G:C	G124R	1.000
10:103571544:G:A	G124D	1.000
10:103571547:T:C	F125S	1.000
10:103571562:C:A	P130Q	1.000
10:103571774:T:A	W201R	1.000
10:103571774:T:C	W201R	1.000
10:103571776:G:C	W201C	1.000
10:103571776:G:T	W201C	1.000
10:103571796:G:A	G208D	1.000

dbSNP variants (sampled 300 via entrez): RS1000009401 (10:103551342 G>A,T), RS1000091317 (10:103537599 G>T), RS1000094407 (10:103531777 C>T), RS1000097201 (10:103557728 G>C), RS1000157875 (10:103513261 T>C), RS1000188187 (10:103532810 G>A,C), RS1000200609 (10:103575427 C>A,T), RS1000201120 (10:103587273 A>G), RS1000205814 (10:103500564 C>G,T), RS1000216207 (10:103524869 T>A), RS1000240432 (10:103532375 T>A,C), RS1000248726 (10:103524577 G>A), RS1000272956 (10:103563028 C>A,G,T), RS1000273530 (10:103575109 A>C,G), RS1000306424 (10:103568614 A>G)

Disease associations

OMIM: gene MIM:603804 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST000693_8	Platelet aggregation	2.000000e-07
GCST002875_131	Diisocyanate-induced asthma	1.000000e-06
GCST002875_3	Diisocyanate-induced asthma	1.000000e-06
GCST003013_16	White matter hyperintensity burden	6.000000e-09
GCST003013_2	White matter hyperintensity burden	3.000000e-09
GCST004295_7	Atrial fibrillation	2.000000e-22
GCST004296_7	Atrial fibrillation	2.000000e-06
GCST004297_17	Atrial fibrillation	3.000000e-21
GCST004300_4	Incident atrial fibrillation	2.000000e-08
GCST004301_3	Prevalent atrial fibrillation	4.000000e-16
GCST004352_5	Early onset atrial fibrillation	3.000000e-07
GCST004373_14	Atrial fibrillation	3.000000e-24
GCST005306_9	Atrial fibrillation	2.000000e-14
GCST005580_315	Intraocular pressure	5.000000e-09
GCST006061_127	Atrial fibrillation	5.000000e-58
GCST006061_228	Atrial fibrillation	1.000000e-47
GCST006414_3	Atrial fibrillation	9.000000e-66
GCST006414_61	Atrial fibrillation	4.000000e-09
GCST006414_99	Atrial fibrillation	8.000000e-41
GCST007059_12	Response to antidepressants (symptom improvement)	4.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0005665	white matter hyperintensity measurement
EFO:0004695	intraocular pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, increases expression	3
Particulate Matter	increases abundance, increases expression	2
testosterone enanthate	affects expression	1
arsenite	affects binding, decreases reaction	1
butyraldehyde	increases expression	1
zinc chromate	decreases expression, increases abundance	1
tobacco tar	decreases reaction, increases expression	1
diallyl disulfide	increases expression, decreases reaction	1
allyl sulfide	decreases reaction, increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Catechin	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Naled	affects expression	1
Smoke	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	increases methylation	1
Mifepristone	increases expression	1
Sodium Selenite	increases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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