SEMA4B
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Also known as SemCKIAA1745MGC131831
Summary
SEMA4B (semaphorin 4B, HGNC:10730) is a protein-coding gene on chromosome 15q26.1, encoding Semaphorin-4B (Q9NPR2). Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons.
Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Predicted to be involved in several processes, including axon guidance; neural crest cell migration; and semaphorin-plexin signaling pathway. Predicted to be located in membrane and synapse. Predicted to be active in glutamatergic synapse and postsynaptic density membrane.
Source: NCBI Gene 10509 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 166 total
- MANE Select transcript:
NM_198925
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10730 |
| Approved symbol | SEMA4B |
| Name | semaphorin 4B |
| Location | 15q26.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SemC, KIAA1745, MGC131831 |
| Ensembl gene | ENSG00000185033 |
| Ensembl biotype | protein_coding |
| OMIM | 617029 |
| Entrez | 10509 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 17 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000332496, ENST00000411539, ENST00000558051, ENST00000558065, ENST00000558848, ENST00000558895, ENST00000558975, ENST00000559074, ENST00000559247, ENST00000559300, ENST00000559322, ENST00000559792, ENST00000559983, ENST00000560003, ENST00000560089, ENST00000560263, ENST00000560993, ENST00000561085, ENST00000561252, ENST00000561321, ENST00000864015, ENST00000864016, ENST00000864017, ENST00000864018, ENST00000864019, ENST00000928644, ENST00000928645, ENST00000947039
RefSeq mRNA: 8 — MANE Select: NM_198925
NM_001324029, NM_001324030, NM_001324031, NM_001324032, NM_001324034, NM_001393916, NM_020210, NM_198925
CCDS: CCDS45347
Canonical transcript exons
ENST00000411539 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001700923 | 90201330 | 90201735 |
| ENSE00002546741 | 90227904 | 90229660 |
| ENSE00003462154 | 90220982 | 90221093 |
| ENSE00003472405 | 90225661 | 90225827 |
| ENSE00003476841 | 90225282 | 90225397 |
| ENSE00003483536 | 90224968 | 90225178 |
| ENSE00003550351 | 90223838 | 90223988 |
| ENSE00003561135 | 90221614 | 90221765 |
| ENSE00003577538 | 90223559 | 90223740 |
| ENSE00003613352 | 90217767 | 90217829 |
| ENSE00003635555 | 90221367 | 90221480 |
| ENSE00003649008 | 90227557 | 90227642 |
| ENSE00003666194 | 90219793 | 90219891 |
| ENSE00003729453 | 90217439 | 90217602 |
Expression profiles
Bgee: expression breadth ubiquitous, 212 present calls, max score 98.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.9921 / max 559.4280, expressed in 1766 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 148414 | 10.7150 | 1485 |
| 148417 | 9.0955 | 1666 |
| 148418 | 6.6964 | 985 |
| 148415 | 0.4852 | 180 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 98.02 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.63 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.39 | gold quality |
| secondary oocyte | CL:0000655 | 97.08 | gold quality |
| esophagus | UBERON:0001043 | 95.52 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.07 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.69 | gold quality |
| gingiva | UBERON:0001828 | 94.34 | gold quality |
| vagina | UBERON:0000996 | 94.24 | gold quality |
| transverse colon | UBERON:0001157 | 94.14 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.12 | silver quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.03 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.02 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.97 | gold quality |
| skin of leg | UBERON:0001511 | 93.81 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.79 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.72 | gold quality |
| mouth mucosa | UBERON:0003729 | 93.52 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.30 | gold quality |
| sural nerve | UBERON:0015488 | 93.28 | gold quality |
| tibial nerve | UBERON:0001323 | 93.27 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.27 | gold quality |
| lower esophagus | UBERON:0013473 | 93.25 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.23 | gold quality |
| oocyte | CL:0000023 | 93.22 | gold quality |
| colon | UBERON:0001155 | 93.19 | gold quality |
| thyroid gland | UBERON:0002046 | 93.13 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.11 | gold quality |
| large intestine | UBERON:0000059 | 92.76 | gold quality |
| zone of skin | UBERON:0000014 | 92.67 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75688 | yes | 590.12 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
71 targeting SEMA4B, 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-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
Literature-anchored findings (GeneRIF, showing 5)
- showed that HIF-1alpha recognized a hypoxia-responsive element (HRE) of SEMA4B gene, which is required for HIF-1-repressed SEMA4B expression (PMID:24474252)
- Decrease in SEMA4b levels are associated with metastasis of non-small cell lung cancer. (PMID:25095981)
- SEMA4B may induce FoxO1 nuclear retention through suppressing PI3K/Akt signaling pathway, which subsequently inhibited cell growth through the direct nuclear target of FoxO1, p21. (PMID:25746385)
- Semaphorin 4B promotes tumor progression and associates with immune infiltrates in lung adenocarcinoma. (PMID:35676688)
- CircSEMA4B inhibits the progression of breast cancer by encoding a novel protein SEMA4B-211aa and regulating AKT phosphorylation. (PMID:36115854)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sema4ba | ENSDARG00000074414 |
| danio_rerio | sema4bb | ENSDARG00000076104 |
| mus_musculus | Sema4b | ENSMUSG00000030539 |
| rattus_norvegicus | Sema4b | ENSRNOG00000025167 |
Paralogs (19): SEMA3F (ENSG00000001617), SEMA3G (ENSG00000010319), SEMA3B (ENSG00000012171), SEMA3A (ENSG00000075213), SEMA3C (ENSG00000075223), SEMA5B (ENSG00000082684), SEMA6A (ENSG00000092421), SEMA4G (ENSG00000095539), SEMA5A (ENSG00000112902), SEMA4F (ENSG00000135622), SEMA6D (ENSG00000137872), SEMA7A (ENSG00000138623), SEMA6C (ENSG00000143434), SEMA3D (ENSG00000153993), SEMA6B (ENSG00000167680), SEMA4C (ENSG00000168758), SEMA3E (ENSG00000170381), SEMA4D (ENSG00000187764), SEMA4A (ENSG00000196189)
Protein
Protein identifiers
Semaphorin-4B — Q9NPR2 (reviewed: Q9NPR2)
Alternative names: Semaphorin-C
All UniProt accessions (10): Q9NPR2, H0YKV7, H0YLN3, H0YM68, H0YMD6, H0YMR1, H0YMZ3, H0YN49, H0YNC4, H0YNM2
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons.
Subcellular location. Membrane.
Similarity. Belongs to the semaphorin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NPR2-1 | 1 | yes |
| Q9NPR2-2 | 2 |
RefSeq proteins (8): NP_001310958, NP_001310959, NP_001310960, NP_001310961, NP_001310963, NP_001380845, NP_064595, NP_945119* (*=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 |
Pfam: PF01403, PF01437
UniProt features (28 total): glycosylation site 6, disulfide bond 6, modified residue 3, domain 3, topological domain 2, sequence conflict 2, signal peptide 1, chain 1, splice variant 1, sequence variant 1, transmembrane region 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NPR2-F1 | 82.14 | 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 (3): 818, 830, 793
Disulfide bonds (6): 120–131, 149–158, 286–399, 310–359, 526–543, 611–656
Glycosylation sites (6): 69, 96, 165, 410, 525, 630
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 238 (showing top):
TGCACTT_MIR519C_MIR519B_MIR519A, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_NEUROGENESIS, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_TAXIS, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, TGCTGAY_UNKNOWN, MARTIN_VIRAL_GPCR_SIGNALING_UP, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, BASAKI_YBX1_TARGETS_DN, GOBP_MESENCHYME_DEVELOPMENT, RFX1_02
GO Biological Process (7): neural crest cell migration (GO:0001755), axon guidance (GO:0007411), positive regulation of cell migration (GO:0030335), negative chemotaxis (GO:0050919), semaphorin-plexin signaling pathway (GO:0071526), nervous system development (GO:0007399), 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 (5): plasma membrane (GO:0005886), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), membrane (GO:0016020), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| signaling receptor binding | 2 |
| neural crest cell development | 1 |
| mesenchymal cell migration | 1 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| positive regulation of cell motility | 1 |
| chemotaxis | 1 |
| cell surface receptor signaling pathway | 1 |
| system development | 1 |
| cellular developmental process | 1 |
| receptor ligand activity | 1 |
| negative chemotaxis | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
| synapse | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
542 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SEMA4B | DCBLD2 | Q96PD2 | 874 |
| SEMA4B | GNAT1 | P11488 | 691 |
| SEMA4B | PLXNB2 | O15031 | 594 |
| SEMA4B | GNAI2 | P04899 | 590 |
| SEMA4B | GTPBP4 | Q9BZE4 | 589 |
| SEMA4B | PLXNA1 | Q9UIW2 | 536 |
| SEMA4B | DLG4 | P78352 | 491 |
| SEMA4B | NRP2 | O60462 | 462 |
| SEMA4B | SNX33 | Q8WV41 | 459 |
| SEMA4B | SNX18 | Q96RF0 | 449 |
| SEMA4B | SYT1 | P21579 | 422 |
| SEMA4B | EZH2 | Q15910 | 414 |
| SEMA4B | NCDN | Q9UBB6 | 409 |
| SEMA4B | ABAT | P80404 | 396 |
| SEMA4B | PPAT | Q06203 | 388 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SEMA4B | psi-mi:“MI:0915”(physical association) | 0.660 | |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| C1orf54 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| TDRD9 | SEMA4B | psi-mi:“MI:0915”(physical association) | 0.400 |
| SEMA4B | psi-mi:“MI:0915”(physical association) | 0.370 | |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 | |
| PDCD2 | PRMT3 | psi-mi:“MI:0914”(association) | 0.350 |
| SEMA4A | TMEM192 | psi-mi:“MI:0914”(association) | 0.350 |
| SEMA4B | NLGN1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| SFTPC | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| BRICD5 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DQA1 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| PTCH1 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| NCR3 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJB9 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CFC1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| EDN3 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| DPEP2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| ELSPBP1 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| CST9L | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| SDF2L1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| LYZL1 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| FIBIN | MAN2B1 | psi-mi:“MI:0914”(association) | 0.350 |
ESM2 similar proteins: A0JND9, D3YTS9, O19058, O35795, O55026, O75173, P08648, P11117, P17405, P20611, P21217, P24638, P29376, P56433, Q04519, Q0P5F0, Q0V8G3, Q0VD19, Q11128, Q11131, Q32M88, Q4R5N9, Q4R942, Q5MY95, Q5NVF6, Q5RFQ8, Q62994, Q63148, Q6IY74, Q8BH73, Q8HYJ3, Q8HYJ4, Q8HYJ5, Q8HYJ7, Q8HZR3, Q8K1S1, Q8N135, Q923W9, Q9BZG2, Q9H3T2
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.
Disease & clinical
Clinical variants and AI predictions
ClinVar
166 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 140 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2814 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:90217434:CCCA:C | acceptor_loss | 1.0000 |
| 15:90217435:CCAG:C | acceptor_loss | 1.0000 |
| 15:90217436:CA:C | acceptor_loss | 1.0000 |
| 15:90217437:A:AG | acceptor_gain | 1.0000 |
| 15:90217437:AGGCT:A | acceptor_loss | 1.0000 |
| 15:90217438:G:A | acceptor_loss | 1.0000 |
| 15:90217438:G:GA | acceptor_gain | 1.0000 |
| 15:90217598:AGGAG:A | donor_loss | 1.0000 |
| 15:90217599:GGAG:G | donor_gain | 1.0000 |
| 15:90217600:G:GT | donor_gain | 1.0000 |
| 15:90217600:GAGGT:G | donor_loss | 1.0000 |
| 15:90217603:GTGA:G | donor_loss | 1.0000 |
| 15:90217604:T:G | donor_loss | 1.0000 |
| 15:90217765:A:AG | acceptor_gain | 1.0000 |
| 15:90217766:G:GG | acceptor_gain | 1.0000 |
| 15:90219788:CCCA:C | acceptor_loss | 1.0000 |
| 15:90219789:CCA:C | acceptor_loss | 1.0000 |
| 15:90219791:A:AG | acceptor_gain | 1.0000 |
| 15:90219791:AGC:A | acceptor_gain | 1.0000 |
| 15:90219791:AGCGC:A | acceptor_gain | 1.0000 |
| 15:90219792:G:A | acceptor_loss | 1.0000 |
| 15:90219792:G:GT | acceptor_gain | 1.0000 |
| 15:90219792:GC:G | acceptor_gain | 1.0000 |
| 15:90219792:GCG:G | acceptor_gain | 1.0000 |
| 15:90219792:GCGC:G | acceptor_gain | 1.0000 |
| 15:90219792:GCGCG:G | acceptor_gain | 1.0000 |
| 15:90219888:CATC:C | donor_gain | 1.0000 |
| 15:90219889:ATC:A | donor_gain | 1.0000 |
| 15:90219890:TC:T | donor_gain | 1.0000 |
| 15:90219890:TCGT:T | donor_loss | 1.0000 |
AlphaMissense
5436 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:90223595:T:A | W300R | 0.999 |
| 15:90223595:T:C | W300R | 0.999 |
| 15:90217803:T:A | C120S | 0.998 |
| 15:90217804:G:C | C120S | 0.998 |
| 15:90219799:T:A | C131S | 0.998 |
| 15:90219800:G:C | C131S | 0.998 |
| 15:90219868:T:C | F154L | 0.998 |
| 15:90219870:C:A | F154L | 0.998 |
| 15:90219870:C:G | F154L | 0.998 |
| 15:90221746:G:C | R281P | 0.998 |
| 15:90221760:T:A | C286S | 0.998 |
| 15:90221761:G:C | C286S | 0.998 |
| 15:90223612:G:C | K305N | 0.998 |
| 15:90223612:G:T | K305N | 0.998 |
| 15:90219800:G:A | C131Y | 0.997 |
| 15:90219801:T:G | C131W | 0.997 |
| 15:90219807:C:A | N133K | 0.997 |
| 15:90219807:C:G | N133K | 0.997 |
| 15:90221400:T:G | F210C | 0.997 |
| 15:90221623:T:G | F240C | 0.997 |
| 15:90221752:C:A | A283D | 0.997 |
| 15:90221761:G:A | C286Y | 0.997 |
| 15:90223597:G:C | W300C | 0.997 |
| 15:90223597:G:T | W300C | 0.997 |
| 15:90217803:T:C | C120R | 0.996 |
| 15:90217805:C:G | C120W | 0.996 |
| 15:90219854:G:A | C149Y | 0.996 |
| 15:90219855:T:G | C149W | 0.996 |
| 15:90219875:C:A | P156H | 0.996 |
| 15:90221751:G:C | A283P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000082982 (15:90185387 A>C,G,T), RS1000145295 (15:90193314 A>G), RS1000146032 (15:90208981 T>C), RS1000147064 (15:90185109 G>A), RS1000229027 (15:90188767 A>T), RS1000306011 (15:90229326 G>A), RS1000341834 (15:90203930 G>A), RS1000408421 (15:90193694 G>A), RS1000486838 (15:90184677 G>A), RS1000516913 (15:90213349 A>G), RS1000589671 (15:90215482 CTTG>C), RS1000606883 (15:90224441 C>T), RS1000620613 (15:90215713 G>A), RS1000664071 (15:90214337 A>C), RS1000692069 (15:90184326 C>T)
Disease associations
OMIM: gene MIM:617029 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007096_28 | Pulse pressure | 4.000000e-08 |
| GCST007234_18 | Acne (severe) | 6.000000e-15 |
| GCST007234_19 | Acne (severe) | 7.000000e-08 |
| GCST007713_4 | Frontal fibrosing alopecia | 8.000000e-10 |
| GCST90011900_119 | Serum alkaline phosphatase levels | 4.000000e-13 |
| GCST90013406_285 | Liver enzyme levels (alkaline phosphatase) | 1.000000e-16 |
| GCST90013407_11 | Liver enzyme levels (gamma-glutamyl transferase) | 7.000000e-12 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0009855 | frontal fibrosing alopecia |
| EFO:0004533 | alkaline phosphatase measurement |
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects splicing, decreases expression, increases expression | 3 |
| Air Pollutants | affects expression, increases abundance, decreases expression, increases expression | 3 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment, decreases expression | 3 |
| Acetaminophen | decreases expression | 2 |
| Calcitriol | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects expression, affects response to substance | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| deguelin | decreases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| abrine | decreases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| darinaparsin | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | increases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acne