NRN1

Summary

NRN1 (neuritin 1, HGNC:17972) is a protein-coding gene on chromosome 6p25.1, encoding Neuritin (Q9NPD7). Promotes neurite outgrowth and especially branching of neuritic processes in primary hippocampal and cortical cells.

This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 51299 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 10 total
• MANE Select transcript: NM_016588

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17972
Approved symbol	NRN1
Name	neuritin 1
Location	6p25.1
Locus type	gene with protein product
Status	Approved
Aliases	NRN
Ensembl gene	ENSG00000124785
Ensembl biotype	protein_coding
OMIM	607409
Entrez	51299

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000244766, ENST00000495850, ENST00000616243, ENST00000622188, ENST00000889857, ENST00000929591, ENST00000959027, ENST00000959028

RefSeq mRNA: 3 — MANE Select: NM_016588 NM_001278710, NM_001278711, NM_016588

CCDS: CCDS4495, CCDS75393

Canonical transcript exons

ENST00000244766 — 3 exons

Exon	Start	End
ENSE00000847879	5997999	5999204
ENSE00000847881	6006695	6006925
ENSE00003552388	6002353	6002497

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 98.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.8122 / max 1048.0630, expressed in 927 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
71553	11.4386	841
71549	1.4360	569
71548	0.9171	411
71552	0.5257	195
71551	0.3588	138
71555	0.3524	215
71554	0.3396	177
71547	0.2277	61
203839	0.1187	52
203838	0.0977	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar cortex	UBERON:0002129	98.30	gold quality
cerebellar hemisphere	UBERON:0002245	98.29	gold quality
orbitofrontal cortex	UBERON:0004167	98.23	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.19	gold quality
right frontal lobe	UBERON:0002810	98.18	gold quality
cerebellum	UBERON:0002037	98.14	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.09	gold quality
ganglionic eminence	UBERON:0004023	98.05	gold quality
superior frontal gyrus	UBERON:0002661	97.88	gold quality
prefrontal cortex	UBERON:0000451	97.86	gold quality
frontal cortex	UBERON:0001870	97.78	gold quality
cerebellar vermis	UBERON:0004720	97.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.67	gold quality
cingulate cortex	UBERON:0003027	97.53	gold quality
anterior cingulate cortex	UBERON:0009835	97.53	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.48	gold quality
postcentral gyrus	UBERON:0002581	97.45	gold quality
parietal lobe	UBERON:0001872	97.40	gold quality
Ammon’s horn	UBERON:0001954	97.26	gold quality
amygdala	UBERON:0001876	97.24	gold quality
cerebral cortex	UBERON:0000956	97.21	gold quality
neocortex	UBERON:0001950	97.21	gold quality
primary visual cortex	UBERON:0002436	96.84	gold quality
occipital lobe	UBERON:0002021	96.60	gold quality
middle temporal gyrus	UBERON:0002771	96.46	gold quality
temporal lobe	UBERON:0001871	96.17	gold quality
tibial nerve	UBERON:0001323	95.99	gold quality
pons	UBERON:0000988	95.87	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.46	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.93	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-MTAB-10485	yes	867.68
E-HCAD-5	yes	587.31
E-MTAB-9154	yes	352.02
E-MTAB-8142	yes	86.95
E-HCAD-1	yes	33.87
E-HCAD-11	yes	28.85
E-MTAB-8410	yes	17.52
E-HCAD-9	yes	14.82
E-ANND-3	yes	12.46
E-MTAB-7316	yes	10.46
E-CURD-46	yes	9.68
E-MTAB-10553	yes	6.12

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, GDNF, HR

miRNA regulators (miRDB)

143 targeting NRN1, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6499-3P	99.90	66.38	1212

Literature-anchored findings (GeneRIF, showing 24)

• By Northern blot, we confirm hypoxia-induced expression of insulin-like growth factor binding protein 3 (igfbp3), thioredoxin-interacting protein (txnip), neuritin (nrn1). (PMID:16723126)
• CPG15 and CPG15-2 perform similar cellular functions but may play distinct roles in vivo through their cell-type- and tissue-specific transcriptional regulation (PMID:18265009)
• NRN1 polymorphisms have roles in fluid intelligence in schizophrenia (PMID:19569075)
• we found neuritin is overexpressed in astrocytoma, which may be an important factor in tumorigenesis and progression of astrocytoma (PMID:20405246)
• Data show that SMN and HuD form a complex in spinal motor axons, and that both interact with cpg15 mRNA in neurons. (PMID:21652774)
• MiR-204 promotes apoptosis in oxidative stress-induced rat Schwann cells by suppressing neuritin expression (PMID:25036738)
• Neuritin is reduced in the brains of Alzheimer’s disease (AD) patients. (PMID:25101829)
• Data indicate that neuritin not only plays an important role in the nervous system but also has an effect on the migration, senescence, proliferation, and viability of stem cells (PMID:26208391)
• (i) NRN1 variability is a shared risk factor for both schizophrenia-spectrum disorders (SSD) and bipolar disorders (BPD), (ii) NRN1 may have a selective impact on age at onset and intelligence in SSD. (PMID:26700405)
• On analysis of the expression of NRN1 in SMA patients for the first time, NRN1 could be a potential modifier gene (PMID:27279027)
• Ca(2+)/calcineurin (CaN)/nuclear factor of activated T-cells (NFAT) c4 axis is required for neuritin-induced Kv4.2 transcriptional expression and potentiation of IA densities in cerebellum granule neurons. (PMID:27307045)
• results suggest that DTNBP1 and NRN1 genes show a joint effect on the risk for schizophrenia spectrum disorders. Although the precise mechanism underlying this effect is unclear, the fact that these genes have been involved in synaptic maturation, connectivity and glutamate signalling suggests that our findings could be of value as a link to the schizophrenia aetiology. (PMID:27855309)
• NRN1 is expressed more extensively in melanoma than in normal melanocytes and healthy tissue. Secreted NRN1 seems to play a role also in earlier phases of melanoma development as we can discover NRN1 over-expression to be associated to primary melanoma (PMID:27901477)
• NRN1 is associated with depressive symptoms and executive function in a non-clinical sample. Our results also suggest that the role of NRN1 seems to be modulated by BDNF. (PMID:28107668)
• Association of AEBP1 and NRN1 RNA expression with Alzheimer’s disease and neurofibrillary tangle density in middle temporal gyrus. (PMID:31176712)
• The expression of NRN1 was significantly lower in women with ovarian endometriosis treated with GnRHa. These results suggest that NRN1 may be a biomarker response to the effect of GnRHa treatment for patients with ovarian endometriosis. (PMID:31491902)
• The impact of DNA demethylation on the upregulation of the NRN1 and TNFAIP3 genes associated with advanced gastric cancer. (PMID:32285140)
• Methylation of NRN1 is a novel synthetic lethal marker of PI3K-Akt-mTOR and ATR inhibitors in esophageal cancer. (PMID:33931924)
• NRN1 and CAT Gene Polymorphisms, Complex Noise, and Lifestyles interactively Affect the Risk of Noise-induced Hearing Loss. (PMID:34530960)
• NRN1 Gene as a Potential Marker of Early-Onset Schizophrenia: Evidence from Genetic and Neuroimaging Approaches. (PMID:35806464)
• Integrated Proteomics to Understand the Role of Neuritin (NRN1) as a Mediator of Cognitive Resilience to Alzheimer’s Disease. (PMID:37024090)
• Neuritin affects the activity of neuralized-like 1 by promoting degradation and weakening its affinity for substrate. (PMID:37249336)
• NRN1 interacts with Notch to increase oncogenic STAT3 signaling in melanoma. (PMID:38705997)
• NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia. (PMID:38720004)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	nrn1b	ENSDARG00000042656
danio_rerio	nrn1a	ENSDARG00000071860
mus_musculus	Nrn1	ENSMUSG00000039114
rattus_norvegicus	Nrn1	ENSRNOG00000050767

Paralogs (1): NRN1L (ENSG00000188038)

Protein

Protein identifiers

Neuritin — Q9NPD7 (reviewed: Q9NPD7)

All UniProt accessions (2): A0A087WWT2, Q9NPD7

UniProt curated annotations — full annotation on UniProt →

Function. Promotes neurite outgrowth and especially branching of neuritic processes in primary hippocampal and cortical cells.

Subunit / interactions. Component of the outer core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing.

Subcellular location. Cell membrane. Synapse.

Similarity. Belongs to the neuritin family.

RefSeq proteins (3): NP_001265639, NP_001265640, NP_057672* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026144	Neuritin_fam	Family

Pfam: PF15056

UniProt features (7 total): sequence conflict 3, signal peptide 1, chain 1, propeptide 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NPD7-F1	79.42	0.26

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): 116

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins

MSigDB gene sets: 219 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_GROWTH, GOBP_NEUROGENESIS, GOBP_CELL_CELL_SIGNALING, chr6p25, GOBP_CELL_JUNCTION_ORGANIZATION, DELYS_THYROID_CANCER_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_SYNAPTIC_SIGNALING, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_DEVELOPMENTAL_CELL_GROWTH, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS

GO Biological Process (4): regulation of synapse maturation (GO:0090128), presynaptic modulation of chemical synaptic transmission (GO:0099171), neuron projection extension (GO:1990138), nervous system development (GO:0007399)

GO Molecular Function (1): identical protein binding (GO:0042802)

GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), AMPA glutamate receptor complex (GO:0032281), side of membrane (GO:0098552), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), membrane (GO:0016020), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
membrane	2
synapse	2
regulation of developmental process	1
regulation of synapse organization	1
synapse maturation	1
modulation of chemical synaptic transmission	1
presynapse	1
developmental cell growth	1
neuron projection morphogenesis	1
developmental growth involved in morphogenesis	1
system development	1
protein binding	1
cell periphery	1
ionotropic glutamate receptor complex	1
leaflet of membrane bilayer	1
cell junction	1

Protein interactions and networks

STRING

1026 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NRN1	BDNF	P23560	825
NRN1	NTF3	P20783	713
NRN1	VWC2	Q2TAL6	622
NRN1	GAP43	P17677	545
NRN1	ELAVL4	P26378	522
NRN1	NTNG2	Q96CW9	500
NRN1	STMN2	Q93045	479
NRN1	VWC2L	B2RUY7	468
NRN1	VGF	O15240	455
NRN1	SNCG	O76070	440
NRN1	HNRNPK	P61978	428
NRN1	SERPINF1	P36955	418
NRN1	EBF2	Q9HAK2	418
NRN1	SERTM1	A2A2V5	416
NRN1	SFXN4	Q6P4A7	413

IntAct

30 interactions, top by confidence:

A	B	Type	Score
GJB7	PALM3	psi-mi:“MI:0914”(association)	0.530
NRN1	SLC1A1	psi-mi:“MI:0914”(association)	0.530
DUSP22	POTEF	psi-mi:“MI:0914”(association)	0.350
IDO2	FAM171A2	psi-mi:“MI:0914”(association)	0.350
SIGLECL1	KIAA1324L	psi-mi:“MI:0914”(association)	0.350
RAET1E	GOLIM4	psi-mi:“MI:0914”(association)	0.350
NCEH1	C1QL1	psi-mi:“MI:0914”(association)	0.350
NRN1	ADGRL1	psi-mi:“MI:0914”(association)	0.350
PCDHGC3	HRAS	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
SIGLECL1	RBFOX3	psi-mi:“MI:0914”(association)	0.350
HORMAD2	WASH3P	psi-mi:“MI:0914”(association)	0.350
CENPM	DNM1L	psi-mi:“MI:0914”(association)	0.350
MARCHF4	C2CD2L	psi-mi:“MI:0914”(association)	0.350
LY86	PLXNB2	psi-mi:“MI:0914”(association)	0.350
GSX1	YKT6	psi-mi:“MI:0914”(association)	0.350
B3GALT5	TTI1	psi-mi:“MI:0914”(association)	0.350
B3GNT7	B4GALT5	psi-mi:“MI:0914”(association)	0.350
RPRM	ADCY9	psi-mi:“MI:0914”(association)	0.350
PCDHGC3	FYN	psi-mi:“MI:0914”(association)	0.350
GRB10	SRC	psi-mi:“MI:0914”(association)	0.350
HES3	SRC	psi-mi:“MI:0914”(association)	0.350
IDO2	ATF1	psi-mi:“MI:0914”(association)	0.350
CSF3	PTPRG	psi-mi:“MI:0914”(association)	0.350
LRRC52	CANX	psi-mi:“MI:0914”(association)	0.350

BioGRID (57): NRN1 (Affinity Capture-MS), SLC12A6 (Affinity Capture-MS), SLC12A7 (Affinity Capture-MS), NRN1 (Affinity Capture-MS), NRN1 (Affinity Capture-MS), NRN1 (Affinity Capture-MS), NRN1 (Affinity Capture-MS), TMEM219 (Affinity Capture-MS), NRN1 (Affinity Capture-MS), SLC12A4 (Affinity Capture-MS), NRN1 (Affinity Capture-MS), ATP11C (Affinity Capture-MS), FZD2 (Affinity Capture-MS), SLC1A1 (Affinity Capture-MS), GLRB (Affinity Capture-MS)

ESM2 similar proteins: A2A690, A3KN28, A9JRA0, D2HZB0, F1LTE0, O00451, O08957, O13097, O13156, O73612, O75208, P52795, P52796, P52799, P52800, P56159, P83094, P84060, P97401, P97785, P98172, Q0PMD2, Q17QD6, Q2KIC6, Q2NL34, Q3UMR5, Q5RAD6, Q5U239, Q62997, Q68FT1, Q68FW3, Q6DGP8, Q6NW40, Q6P767, Q7TQ33, Q8BG18, Q8CFV4, Q8K1Z0, Q8K4P7, Q8NE86

Diamond homologs: O08957, Q2KIC6, Q496H8, Q5U523, Q6DGP8, Q8C4W3, Q8CFV4, Q90ZM9, Q9NPD7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
GDNF	“up-regulates quantity by expression”	NRN1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

785 predictions. Top by Δscore:

Variant	Effect	Δscore
6:6002348:CTTA:C	donor_loss	1.0000
6:6002350:T:TG	donor_loss	1.0000
6:6002351:A:AC	donor_gain	1.0000
6:6002352:C:CT	donor_gain	1.0000
6:6002352:CGTG:C	donor_gain	1.0000
6:6002493:ATACG:A	acceptor_gain	1.0000
6:6002494:TACG:T	acceptor_gain	1.0000
6:6002495:ACG:A	acceptor_gain	1.0000
6:6002496:CG:C	acceptor_gain	1.0000
6:6002496:CGC:C	acceptor_gain	1.0000
6:6002498:C:CC	acceptor_gain	1.0000
6:6002346:CACTT:C	donor_loss	0.9900
6:6002351:ACGTG:A	donor_gain	0.9900
6:6002352:CG:C	donor_gain	0.9900
6:6002352:CGTGC:C	donor_gain	0.9900
6:6002497:GC:G	acceptor_loss	0.9900
6:6002498:C:CG	acceptor_loss	0.9900
6:5999205:C:CC	acceptor_gain	0.9800
6:5999216:C:CT	acceptor_gain	0.9800
6:6002495:ACGCT:A	acceptor_gain	0.9800
6:6002496:CGCT:C	acceptor_gain	0.9800
6:6002497:GCTGC:G	acceptor_gain	0.9800
6:6002498:CTGC:C	acceptor_gain	0.9800
6:6002501:C:CT	acceptor_gain	0.9800
6:6003446:CA:C	donor_gain	0.9800
6:6006690:CTTA:C	donor_loss	0.9800
6:6006691:TTACC:T	donor_loss	0.9800
6:6006692:TACCT:T	donor_loss	0.9800
6:6006693:ACC:A	donor_loss	0.9800
6:5999203:ATCT:A	acceptor_loss	0.9700

AlphaMissense

923 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:5999132:C:A	W91C	1.000
6:5999132:C:G	W91C	1.000
6:5999189:G:C	F72L	1.000
6:5999189:G:T	F72L	1.000
6:5999190:A:C	F72C	1.000
6:5999191:A:G	F72L	1.000
6:5999198:C:A	W69C	1.000
6:5999198:C:G	W69C	1.000
6:6002417:C:A	G46C	1.000
6:6002430:A:C	C41W	1.000
6:5999082:A:C	F108C	0.999
6:5999085:A:G	L107S	0.999
6:5999124:A:G	L94P	0.999
6:5999134:A:G	W91R	0.999
6:5999134:A:T	W91R	0.999
6:5999157:C:G	C83S	0.999
6:5999157:C:T	C83Y	0.999
6:5999158:A:G	C83R	0.999
6:5999158:A:T	C83S	0.999
6:5999180:G:C	C75W	0.999
6:5999181:C:G	C75S	0.999
6:5999181:C:T	C75Y	0.999
6:5999182:A:T	C75S	0.999
6:5999190:A:G	F72S	0.999
6:5999200:A:G	W69R	0.999
6:5999200:A:T	W69R	0.999
6:6002355:G:C	C66W	0.999
6:6002356:C:T	C66Y	0.999
6:6002416:C:T	G46D	0.999
6:6002431:C:A	C41F	0.999

dbSNP variants (sampled 300 via entrez): RS1000007703 (6:5998955 C>A,T), RS1000040337 (6:5998587 C>T), RS1000063669 (6:6001409 CAG>C), RS1000124269 (6:6005363 A>G), RS1000457735 (6:6004229 T>C), RS1000659634 (6:6003267 G>A,T), RS1000699562 (6:6008215 T>C), RS1001012758 (6:5997512 A>G), RS1001229461 (6:6004930 C>A,T), RS1001332783 (6:6005460 A>C,G), RS1001337807 (6:6005024 T>C), RS1001677824 (6:6000115 T>C), RS1001708964 (6:5999928 C>A), RS1002195391 (6:6004029 G>A), RS1002323302 (6:6008924 G>A,C)

Disease associations

OMIM: gene MIM:607409 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003542_46	Night sleep phenotypes	7.000000e-06
GCST006993_7	Hippocampal volume in Alzheimer’s disease dementia	5.000000e-07
GCST009391_82	Metabolite levels	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005035	hippocampal volume

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
Valproic Acid	decreases expression, affects reaction, increases expression, affects expression	4
Oxygen	decreases reaction, increases expression	2
1-cyclopropyl-4-(4-((5-methyl-3-(3-(4-(trifluoromethoxy)phenyl)-1,2,4-oxadiazol-5-yl)-1H-pyrazol-1-yl)methyl)pyridin-2-yl)piperazine	decreases reaction, increases expression	1
methylmercuric chloride	increases expression	1
bisphenol A	affects cotreatment, increases expression	1
terbufos	increases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	increases methylation	1
sodium arsenite	affects methylation	1
potassium chromate(VI)	decreases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
Vorinostat	affects cotreatment, increases expression, decreases expression	1
Air Pollutants	increases expression, increases abundance	1
Arsenic	increases response to substance	1
Azacitidine	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Demecolcine	decreases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Fonofos	increases methylation	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	decreases expression	1
Parathion	increases methylation	1
Tretinoin	increases expression	1
Vincristine	decreases expression	1

Clinical trials (associated diseases)

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