SEMA4F

Summary

SEMA4F (ssemaphorin 4F, HGNC:10734) is a protein-coding gene on chromosome 2p13.1, encoding Semaphorin-4F (O95754). Probable cell surface receptor that regulates oligodendroglial precursor cell migration.

This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 10505 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 137 total
• MANE Select transcript: NM_004263

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10734
Approved symbol	SEMA4F
Name	ssemaphorin 4F
Location	2p13.1
Locus type	gene with protein product
Status	Approved
Aliases	SEMAW
Ensembl gene	ENSG00000135622
Ensembl biotype	protein_coding
OMIM	603706
Entrez	10505

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 8 protein_coding, 8 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000339773, ENST00000357877, ENST00000416236, ENST00000420077, ENST00000434486, ENST00000446927, ENST00000458114, ENST00000473350, ENST00000850593, ENST00000850594, ENST00000850595, ENST00000850596, ENST00000850597, ENST00000873794, ENST00000873795, ENST00000950714, ENST00000950715

RefSeq mRNA: 3 — MANE Select: NM_004263 NM_001271661, NM_001271662, NM_004263

CCDS: CCDS1955, CCDS62942, CCDS74529

Canonical transcript exons

ENST00000357877 — 14 exons

Exon	Start	End
ENSE00001177492	74662732	74662825
ENSE00001177500	74657853	74657951
ENSE00003615389	74673457	74673576
ENSE00003636804	74673677	74673828
ENSE00003637541	74656534	74656685
ENSE00003668419	74657565	74657624
ENSE00003784590	74674498	74674676
ENSE00004282265	74675162	74675384
ENSE00004282269	74675525	74675634
ENSE00004282272	74679599	74683841
ENSE00004282273	74675749	74675909
ENSE00004282275	74654247	74654521
ENSE00004282278	74674888	74675035
ENSE00004282280	74679276	74679334

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 85.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.9189 / max 103.8422, expressed in 1630 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21065	4.0807	1454
21066	2.6029	1212
21067	0.9575	580
21068	0.2778	124

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	85.54	gold quality
middle temporal gyrus	UBERON:0002771	84.28	gold quality
cortical plate	UBERON:0005343	82.58	gold quality
prefrontal cortex	UBERON:0000451	81.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.32	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.98	gold quality
frontal cortex	UBERON:0001870	79.98	gold quality
superior frontal gyrus	UBERON:0002661	79.77	gold quality
sural nerve	UBERON:0015488	79.56	gold quality
right frontal lobe	UBERON:0002810	79.42	gold quality
neocortex	UBERON:0001950	78.89	gold quality
postcentral gyrus	UBERON:0002581	78.61	gold quality
Brodmann (1909) area 23	UBERON:0013554	78.60	gold quality
Brodmann (1909) area 46	UBERON:0006483	78.53	silver quality
Brodmann (1909) area 9	UBERON:0013540	78.24	gold quality
parietal lobe	UBERON:0001872	78.22	gold quality
dorsal root ganglion	UBERON:0000044	78.20	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.00	gold quality
cerebral cortex	UBERON:0000956	77.55	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	77.32	gold quality
cerebellar hemisphere	UBERON:0002245	77.17	gold quality
cerebellar cortex	UBERON:0002129	77.15	gold quality
superficial temporal artery	UBERON:0001614	76.74	gold quality
cerebellum	UBERON:0002037	76.67	gold quality
entorhinal cortex	UBERON:0002728	76.61	gold quality
islet of Langerhans	UBERON:0000006	75.99	gold quality
ventricular zone	UBERON:0003053	75.98	gold quality
ganglionic eminence	UBERON:0004023	75.95	gold quality
germinal epithelium of ovary	UBERON:0001304	75.66	gold quality
stromal cell of endometrium	CL:0002255	75.58	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.84
E-CURD-10	no	314.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

137 targeting SEMA4F, 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-4533	100.00	69.48	2758
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650

Literature-anchored findings (GeneRIF, showing 3)

• Fine mapping of the chromosome 2p12-16 dyslexia susceptibility candidate gene (PMID:11901358)
• Sema4F levels were strongly reduced in a panel of human neurofibromas, confirming the relevance of these findings to the human disease. (PMID:19056885)
• data seems to indicate that SEMA4F is involved in tumour progression in breast cancer (PMID:21925246)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000100308
mus_musculus	Sema4f	ENSMUSG00000000627
rattus_norvegicus	Sema4f	ENSRNOG00000006784

Paralogs (19): SEMA3F (ENSG00000001617), SEMA3G (ENSG00000010319), SEMA3B (ENSG00000012171), SEMA3A (ENSG00000075213), SEMA3C (ENSG00000075223), SEMA5B (ENSG00000082684), SEMA6A (ENSG00000092421), SEMA4G (ENSG00000095539), SEMA5A (ENSG00000112902), SEMA6D (ENSG00000137872), SEMA7A (ENSG00000138623), SEMA6C (ENSG00000143434), SEMA3D (ENSG00000153993), SEMA6B (ENSG00000167680), SEMA4C (ENSG00000168758), SEMA3E (ENSG00000170381), SEMA4B (ENSG00000185033), SEMA4D (ENSG00000187764), SEMA4A (ENSG00000196189)

Protein

Protein identifiers

Semaphorin-4F — O95754 (reviewed: O95754)

Alternative names: Semaphorin-M, Semaphorin-W

All UniProt accessions (8): A0A087WYZ7, B7Z931, C9JKW7, C9K0A1, O95754, F8WCP8, F8WD61, F8WEH3

UniProt curated annotations — full annotation on UniProt →

Function. Probable cell surface receptor that regulates oligodendroglial precursor cell migration. Might also regulate differentiation of oligodendroglial precursor cells. Has growth cone collapse activity against retinal ganglion-cell axons.

Subunit / interactions. Interacts (via PDZ-binding motif) with DLG4/SAP90 (via PDZ domain 2); this interaction may promote translocation of DLG4/SAP90 to the membrane.

Subcellular location. Cell membrane. Postsynaptic density. Perikaryon. Cell projection. Dendrite.

Similarity. Belongs to the semaphorin family.

Isoforms (2)

UniProt ID	Names	Canonical?
O95754-1	Long	yes
O95754-2	Short

RefSeq proteins (3): NP_001258590, NP_001258591, NP_004254* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001627	Semap_dom	Domain
IPR002165	Plexin_repeat	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR016201	PSI	Domain
IPR027231	Semaphorin	Family
IPR036352	Semap_dom_sf	Homologous_superfamily
IPR045791	Sema4F_C	Domain
IPR047085	Sem4F_Sema_dom	Domain

Pfam: PF01403, PF01437, PF19428

UniProt features (24 total): disulfide bond 7, glycosylation site 3, domain 3, modified residue 2, topological domain 2, signal peptide 1, chain 1, splice variant 1, sequence conflict 1, transmembrane region 1, region of interest 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95754-F1	83.63	0.64

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 (2): 718, 720

Disulfide bonds (7): 112–122, 140–149, 273–384, 297–343, 513–530, 522–539, 587–628

Glycosylation sites (3): 64, 133, 509

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9696264	RND3 GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 275 (showing top): GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_NEGATIVE_REGULATION_OF_AXON_EXTENSION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_RETINAL_GANGLION_CELL_AXON_GUIDANCE, GOLDRATH_IMMUNE_MEMORY, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GOBP_GROWTH, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_CELL_CELL_SIGNALING, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH

GO Biological Process (10): neural crest cell migration (GO:0001755), cell-cell signaling (GO:0007267), nervous system development (GO:0007399), axon guidance (GO:0007411), positive regulation of cell migration (GO:0030335), negative regulation of axon extension (GO:0030517), retinal ganglion cell axon guidance (GO:0031290), negative chemotaxis (GO:0050919), semaphorin-plexin signaling pathway (GO:0071526), cell differentiation (GO:0030154)

GO Molecular Function (4): semaphorin receptor binding (GO:0030215), neuropilin binding (GO:0038191), chemorepellent activity (GO:0045499), protein binding (GO:0005515)

GO Cellular Component (11): endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), membrane (GO:0016020), dendrite (GO:0030425), perikaryon (GO:0043204), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), postsynaptic density (GO:0014069), cell projection (GO:0042995), synapse (GO:0045202), postsynaptic membrane (GO:0045211)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
signaling receptor binding	2
neural crest cell development	1
mesenchymal cell migration	1
cell communication	1
signaling	1
system development	1
axonogenesis	1
neuron projection guidance	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
negative regulation of cell growth	1
regulation of axon extension	1
negative regulation of developmental growth	1
axon extension	1
negative regulation of axonogenesis	1
axon guidance	1
chemotaxis	1
cell surface receptor signaling pathway	1
cellular developmental process	1
receptor ligand activity	1
negative chemotaxis	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
neuron projection	1
dendritic tree	1
neuronal cell body	1
postsynaptic density	1
postsynaptic membrane	1
postsynaptic specialization membrane	1
synapse	1
asymmetric synapse	1
postsynaptic specialization	1
cell junction	1
synaptic membrane	1

Protein interactions and networks

STRING

632 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEMA4F	NRP1	O14786	516
SEMA4F	EPHA6	Q9UF33	493
SEMA4F	ROBO1	Q9Y6N7	481
SEMA4F	GFRA2	O00451	465
SEMA4F	PLXNB1	O43157	459
SEMA4F	SLIT1	O75093	447
SEMA4F	ROBO2	Q9HCK4	420
SEMA4F	PLXNB2	O15031	419
SEMA4F	PLXNA3	P51805	415
SEMA4F	PLXNB3	Q9ULL4	404
SEMA4F	DLG4	P78352	398
SEMA4F	SLITRK4	Q8IW52	397
SEMA4F	SLITRK2	Q9H156	387
SEMA4F	EPHA7	Q15375	387
SEMA4F	SLIT3	O75094	384

IntAct

171 interactions, top by confidence:

A	B	Type	Score
SEMA4F	SMAD4	psi-mi:“MI:0915”(physical association)	0.550
SMAD4	SEMA4F	psi-mi:“MI:2364”(proximity)	0.550
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
SEMA4F	BRAF	psi-mi:“MI:2364”(proximity)	0.470
BRAF	SEMA4F	psi-mi:“MI:0915”(physical association)	0.470
MAST2	SEMA4F	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
WHRN	SEMA4F	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	SNTG2	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
TIAM2	SEMA4F	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	PDZRN3	psi-mi:“MI:0407”(direct interaction)	0.440
SEMA4F	SNTA1	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (51): SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), USO1 (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), HNRNPC (Proximity Label-MS)

ESM2 similar proteins: A2AJ76, B0S5N4, B2RXS4, D3ZLH5, D3ZPX4, F1MMS9, O15031, O75326, O75578, O95754, P08514, P08648, P11688, P17852, P26006, P38570, P51805, P53711, P60882, P70206, P70208, Q13214, Q13683, Q27977, Q3UH93, Q4LFA9, Q5STE3, Q60519, Q61738, Q62177, Q62179, Q62470, Q63258, Q64151, Q7Z7M0, Q8NDA2, Q9C0C4, Q9NPR2, Q9NS98, Q9NTN9

Diamond homologs: A7MB70, D3ZTD8, O08665, O09126, O15041, O35464, O42236, O42237, O88632, O95025, O95754, P70275, Q13214, Q13275, Q13591, Q14563, Q17330, Q24322, Q24323, Q26473, Q26972, Q4LFA9, Q5EA85, Q5R7F5, Q5RE75, Q60519, Q62177, Q62178, Q62179, Q62181, Q62217, Q63548, Q64151, Q76KF0, Q8BH34, Q8NFY4, Q90607, Q90663, Q90665, Q92854

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 139 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
Unblocking of NMDA receptors, glutamate binding and activation	6	35.5×	2e-06
Ras activation upon Ca2+ influx through NMDA receptor	5	31.0×	6e-05
Negative regulation of NMDA receptor-mediated neuronal transmission	5	29.6×	6e-05
Long-term potentiation	5	25.9×	1e-04
Assembly and cell surface presentation of NMDA receptors	9	24.8×	4e-08
Neurexins and neuroligins	9	19.3×	2e-07
Protein-protein interactions at synapses	5	14.4×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	45.4×	9e-12
receptor clustering	7	34.1×	5e-07
protein localization to synapse	5	29.9×	9e-05
regulation of postsynaptic membrane neurotransmitter receptor levels	7	27.1×	2e-06
epidermal growth factor receptor signaling pathway	6	11.6×	1e-03
cell-cell adhesion	11	8.7×	1e-05
protein-containing complex assembly	8	7.1×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	115
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2241 predictions. Top by Δscore:

Variant	Effect	Δscore
2:74673553:A:G	donor_gain	1.0000
2:74674571:GGCC:G	donor_gain	1.0000
2:74674606:G:GT	donor_gain	1.0000
2:74674674:GTG:G	donor_gain	1.0000
2:74675612:T:G	donor_gain	1.0000
2:74675635:G:GG	donor_gain	1.0000
2:74656703:G:T	donor_gain	0.9900
2:74664766:T:TA	acceptor_gain	0.9900
2:74673587:G:GT	donor_gain	0.9900
2:74674637:C:T	donor_gain	0.9900
2:74674641:G:T	donor_gain	0.9900
2:74675354:A:T	donor_gain	0.9900
2:74675520:CCTA:C	acceptor_loss	0.9900
2:74675521:CTA:C	acceptor_loss	0.9900
2:74675522:TA:T	acceptor_loss	0.9900
2:74675523:A:AG	acceptor_gain	0.9900
2:74675523:AGAG:A	acceptor_gain	0.9900
2:74675524:G:GG	acceptor_gain	0.9900
2:74675524:GA:G	acceptor_gain	0.9900
2:74675524:GAGG:G	acceptor_gain	0.9900
2:74675744:TATA:T	acceptor_loss	0.9900
2:74675745:ATAG:A	acceptor_loss	0.9900
2:74675746:TA:T	acceptor_loss	0.9900
2:74675747:A:AG	acceptor_gain	0.9900
2:74675747:A:G	acceptor_loss	0.9900
2:74675748:G:GG	acceptor_gain	0.9900
2:74675748:GA:G	acceptor_gain	0.9900
2:74675748:GAGCT:G	acceptor_gain	0.9900
2:74675908:GG:G	donor_gain	0.9900
2:74675909:GG:G	donor_gain	0.9900

AlphaMissense

4925 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:74674534:T:A	W287R	0.999
2:74674534:T:C	W287R	0.999
2:74674536:G:C	W287C	0.999
2:74674536:G:T	W287C	0.999
2:74657867:T:A	N124K	0.998
2:74657867:T:G	N124K	0.998
2:74657601:T:A	C112S	0.997
2:74657602:G:C	C112S	0.997
2:74657859:T:A	C122S	0.997
2:74657860:G:C	C122S	0.997
2:74657928:T:C	F145L	0.997
2:74657930:T:A	F145L	0.997
2:74657930:T:G	F145L	0.997
2:74662789:T:C	F172L	0.997
2:74662791:T:A	F172L	0.997
2:74662791:T:G	F172L	0.997
2:74673823:T:A	C273S	0.997
2:74673824:G:C	C273S	0.997
2:74675231:T:C	F407L	0.997
2:74675233:C:A	F407L	0.997
2:74675233:C:G	F407L	0.997
2:74679690:G:C	W598C	0.997
2:74679690:G:T	W598C	0.997
2:74657573:G:C	W102C	0.996
2:74657573:G:T	W102C	0.996
2:74656624:T:A	V79D	0.995
2:74657602:G:A	C112Y	0.995
2:74657905:T:C	L137P	0.995
2:74657914:G:A	C140Y	0.995
2:74662790:T:G	F172C	0.995

dbSNP variants (sampled 300 via entrez): RS1000050839 (2:74667040 T>C), RS1000086577 (2:74654579 A>C,G), RS1000113419 (2:74674034 A>G), RS1000119499 (2:74669221 T>A,C), RS1000255931 (2:74668892 A>G), RS1000274053 (2:74680463 A>C,G,T), RS1000290194 (2:74686923 T>C), RS1000318658 (2:74667415 A>G), RS1000324458 (2:74707957 G>A), RS1000344530 (2:74663158 T>C), RS1000371927 (2:74655566 T>C), RS1000394154 (2:74705162 G>A), RS1000482982 (2:74707591 TAAC>T,TAACAAC,TAACAACAACAAC), RS1000679421 (2:74709584 A>C), RS1000705702 (2:74657197 C>A)

Disease associations

OMIM: gene MIM:603706 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001561_3	Myopia (pathological)	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004207	pathological myopia

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	4
(+)-JQ1 compound	increases expression	2
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression	1
O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	affects response to substance, affects expression	1
cobaltous chloride	decreases expression	1
ochratoxin A	decreases expression	1
methylmercury II	decreases expression	1
methacrylaldehyde	decreases expression, increases abundance, affects cotreatment	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1
Silicon Dioxide	decreases expression	1
Smoke	increases expression	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	decreases expression	1
Urethane	increases expression	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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