OLFM1
gene geneOn this page
Also known as NOE1OlfAAMYNOELIN
Summary
OLFM1 (olfactomedin 1, HGNC:17187) is a protein-coding gene on chromosome 9q34.3, encoding Noelin (Q99784). Contributes to the regulation of axonal growth in the embryonic and adult central nervous system by inhibiting interactions between RTN4R and LINGO1.
This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene.
Source: NCBI Gene 10439 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 37 total
- MANE Select transcript:
NM_001282611
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17187 |
| Approved symbol | OLFM1 |
| Name | olfactomedin 1 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NOE1, OlfA, AMY, NOELIN |
| Ensembl gene | ENSG00000130558 |
| Ensembl biotype | protein_coding |
| OMIM | 605366 |
| Entrez | 10439 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 12 protein_coding, 1 retained_intron
ENST00000252854, ENST00000277415, ENST00000339720, ENST00000371793, ENST00000371796, ENST00000371799, ENST00000371801, ENST00000392991, ENST00000483042, ENST00000539529, ENST00000539877, ENST00000545657, ENST00000970973
RefSeq mRNA: 4 — MANE Select: NM_001282611
NM_001282611, NM_001282612, NM_006334, NM_014279
CCDS: CCDS65183, CCDS65184, CCDS6986, CCDS6987
Canonical transcript exons
ENST00000371793 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000895124 | 135095864 | 135096019 |
| ENSE00000984153 | 135098286 | 135098505 |
| ENSE00001128104 | 135106749 | 135106855 |
| ENSE00001513840 | 135087668 | 135088139 |
| ENSE00001824872 | 135119504 | 135121180 |
| ENSE00003466781 | 135090195 | 135090344 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 99.82.
FANTOM5 (CAGE): breadth broad, TPM avg 24.3847 / max 1156.6131, expressed in 898 samples.
FANTOM5 promoters (21 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99416 | 13.5330 | 608 |
| 99413 | 3.5797 | 470 |
| 99411 | 1.9843 | 343 |
| 99415 | 1.3472 | 313 |
| 99412 | 1.0842 | 283 |
| 99409 | 0.9153 | 229 |
| 99404 | 0.4913 | 270 |
| 99406 | 0.2228 | 127 |
| 99407 | 0.2105 | 116 |
| 99427 | 0.1779 | 76 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 99.82 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 99.78 | gold quality |
| frontal pole | UBERON:0002795 | 99.77 | gold quality |
| primary visual cortex | UBERON:0002436 | 99.75 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.74 | gold quality |
| occipital lobe | UBERON:0002021 | 99.73 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.73 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 99.70 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 99.68 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.68 | gold quality |
| frontal cortex | UBERON:0001870 | 99.62 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.60 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.55 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 99.55 | gold quality |
| amygdala | UBERON:0001876 | 99.53 | gold quality |
| endothelial cell | CL:0000115 | 99.52 | gold quality |
| parietal lobe | UBERON:0001872 | 99.51 | gold quality |
| temporal lobe | UBERON:0001871 | 99.47 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.46 | gold quality |
| cerebral cortex | UBERON:0000956 | 99.45 | gold quality |
| cingulate cortex | UBERON:0003027 | 99.43 | gold quality |
| neocortex | UBERON:0001950 | 99.42 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 99.42 | gold quality |
| Ammon’s horn | UBERON:0001954 | 99.41 | gold quality |
| entorhinal cortex | UBERON:0002728 | 99.31 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 99.09 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.91 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.90 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.86 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.85 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10485 | yes | 682.59 |
| E-HCAD-35 | yes | 46.88 |
| E-ANND-3 | yes | 31.45 |
| E-HCAD-5 | yes | 23.53 |
| E-MTAB-10137 | no | 6.68 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
26 targeting OLFM1, 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-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-520E-5P | 99.27 | 68.90 | 1513 |
| HSA-MIR-4326 | 98.97 | 67.63 | 962 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-4724-5P | 98.87 | 67.75 | 1324 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-193A-3P | 98.59 | 66.36 | 769 |
| HSA-MIR-193B-3P | 98.59 | 66.62 | 748 |
| HSA-MIR-6818-3P | 98.56 | 68.23 | 1307 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-4521 | 97.73 | 67.64 | 684 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-1243 | 97.07 | 65.44 | 719 |
| HSA-MIR-10525-3P | 96.32 | 68.04 | 699 |
| HSA-MIR-6763-3P | 90.80 | 64.32 | 80 |
Literature-anchored findings (GeneRIF, showing 6)
- Wnt activation suppresses Olfm-1 expression, and this may predispose a favorable microenvironment of the retained embryo in the Fallopian tube, leading to ectopic pregnancy in humans (PMID:21968811)
- Down-regulation of OLFM1 in fallopian tube epithelial cells enhances spheroid attachment to fallopian tube. (PMID:25999259)
- OLF domains from H. sapiens olfactomedin-1 and M. musculus gliomedin were biophysically, biochemically, and structurally characterized. (PMID:26121352)
- human chorionic gonadotropin stimulated miR-212, which down-regulated OLFM1 and CTBP1 expression in fallopian and endometrial epithelial cells to favor spheroid attachment (PMID:26377223)
- OLFM1 is a negative regulator of non-canonical NF-kappaB signalling by interacting with and inhibiting NIK. Thus, OLFM1 may serve as a valuable biomarker and therapeutic target for colorectal cancer (CRC) patients. (PMID:27555280)
- Long Non-Coding RNA LPP-AS2 Plays an Anti-Tumor Role in Thyroid Carcinoma by Regulating the miR-132-3p/OLFM1 Axis. (PMID:37199315)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | olfm1b | ENSDARG00000014053 |
| danio_rerio | olfm1a | ENSDARG00000018270 |
| mus_musculus | Olfm1 | ENSMUSG00000026833 |
| rattus_norvegicus | Olfm1 | ENSRNOG00000009862 |
Paralogs (9): MYOC (ENSG00000034971), OLFM4 (ENSG00000102837), OLFM2 (ENSG00000105088), OLFML3 (ENSG00000116774), OLFM3 (ENSG00000118733), OLFML2B (ENSG00000162745), OLFML1 (ENSG00000183801), OLFML2A (ENSG00000185585), GLDN (ENSG00000186417)
Protein
Protein identifiers
Noelin — Q99784 (reviewed: Q99784)
Alternative names: Neuronal olfactomedin-related ER localized protein, Olfactomedin-1
All UniProt accessions (9): Q99784, F5GZQ2, F5H810, F8W870, H0YFB9, Q5VZL8, Q6IMJ6, Q6IMJ7, Q6IMJ8
UniProt curated annotations — full annotation on UniProt →
Function. Contributes to the regulation of axonal growth in the embryonic and adult central nervous system by inhibiting interactions between RTN4R and LINGO1. Inhibits RTN4R-mediated axon growth cone collapse. May play an important role in regulating the production of neural crest cells by the neural tube. May be required for normal responses to olfactory stimuli.
Subunit / interactions. Homotetramer; disulfide-linked. Dimer of dimers, giving rise to a V-shaped homotretramer. Isoform 1 and isoform 3 interact with RTN4R. Identified in a complex with RTN4R and LINGO1. Peripherally associated with 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, including OLFM1. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing. Interacts with OLFM2.
Subcellular location. Secreted. Synapse. Endoplasmic reticulum. Cell projection. Axon. Perikaryon.
Domain organisation. The protein contains a globular N-terminal tetramerization domain, a long stalk formed by the coiled coil region and a C-terminal olfactomedin-like domain. Interactions between dimers are mediated by the coiled coil region. The dimers interact mostly via the N-terminal tetramerization domain, giving rise to a V-shaped overall architecture of the tetramer.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q99784-1 | 1 | yes |
| Q99784-2 | 2 | |
| Q99784-3 | 3 | |
| Q99784-4 | 4, AMY | |
| Q99784-5 | 5 |
RefSeq proteins (4): NP_001269540, NP_001269541, NP_006325, NP_055094 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003112 | Olfac-like_dom | Domain |
| IPR011044 | Quino_amine_DH_bsu | Homologous_superfamily |
| IPR022082 | Noelin_dom | Domain |
| IPR050605 | Olfactomedin-like_domain | Family |
Pfam: PF02191, PF12308
UniProt features (49 total): strand 23, glycosylation site 8, turn 5, splice variant 4, disulfide bond 2, helix 2, signal peptide 1, chain 1, sequence conflict 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6QHJ | X-RAY DIFFRACTION | 1.25 |
| 4XAT | X-RAY DIFFRACTION | 2.11 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99784-F1 | 80.91 | 0.49 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (2): 221, 227–409
Glycosylation sites (8): 431, 473, 33, 103, 187, 288, 307, 394
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 299 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOZGIT_ESR1_TARGETS_DN, GOBP_GROWTH, GOBP_NEUROGENESIS, BROWNE_HCMV_INFECTION_16HR_UP, RIZKI_TUMOR_INVASIVENESS_3D_DN, ACTGCAG_MIR173P, BROWNE_HCMV_INFECTION_12HR_UP, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, MODULE_66, KRASNOSELSKAYA_ILF3_TARGETS_DN
GO Biological Process (11): atrioventricular valve formation (GO:0003190), signal transduction (GO:0007165), nervous system development (GO:0007399), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), positive regulation of epithelial to mesenchymal transition (GO:0010718), neuronal signal transduction (GO:0023041), regulation of axon extension (GO:0030516), positive regulation of apoptotic process (GO:0043065), cardiac epithelial to mesenchymal transition (GO:0060317), regulation of neurotransmitter receptor localization to postsynaptic specialization membrane (GO:0098696)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (9): obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783), axon (GO:0030424), neuronal cell body (GO:0043025), perikaryon (GO:0043204), axonal growth cone (GO:0044295), synapse (GO:0045202), extracellular region (GO:0005576), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| gene expression | 2 |
| regulation of gene expression | 2 |
| epithelial to mesenchymal transition | 2 |
| atrioventricular valve morphogenesis | 1 |
| heart valve formation | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| system development | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| regulation of epithelial to mesenchymal transition | 1 |
| positive regulation of cell differentiation | 1 |
| positive regulation of multicellular organismal process | 1 |
| signal transduction | 1 |
| regulation of developmental growth | 1 |
| axon extension | 1 |
| regulation of extent of cell growth | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| heart morphogenesis | 1 |
| regulation of biological quality | 1 |
| neurotransmitter receptor localization to postsynaptic specialization membrane | 1 |
| regulation of protein localization to synapse | 1 |
| regulation of receptor localization to synapse | 1 |
| regulation of protein localization to cell periphery | 1 |
| regulation of protein localization to membrane | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| neuron projection | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| neuronal cell body | 1 |
| growth cone | 1 |
Protein interactions and networks
STRING
1364 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OLFM1 | TENM4 | Q6N022 | 842 |
| OLFM1 | EHMT1 | Q9H9B1 | 817 |
| OLFM1 | CACNA1B | Q00975 | 765 |
| OLFM1 | WASF1 | Q92558 | 697 |
| OLFM1 | RTN4R | Q9BZR6 | 682 |
| OLFM1 | KIDINS220 | Q9ULH0 | 538 |
| OLFM1 | APP | P05067 | 522 |
| OLFM1 | CHRD | Q9H2X0 | 503 |
| OLFM1 | GRIA1 | P42261 | 487 |
| OLFM1 | CACNA1A | P78510 | 484 |
| OLFM1 | BCL2L1 | Q07817 | 442 |
| OLFM1 | MT1X | P80297 | 431 |
| OLFM1 | SNAPC4 | Q5SXM2 | 427 |
| OLFM1 | SURF6 | O75683 | 425 |
| OLFM1 | AK8 | Q96MA6 | 418 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OLFM1 | OLFM2 | psi-mi:“MI:0914”(association) | 0.640 |
| EGFR | OLFM1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| OLFM1 | EGFR | psi-mi:“MI:0915”(physical association) | 0.550 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| Cep152 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM1 | psi-mi:“MI:0914”(association) | 0.350 | |
| VCP | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM2 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM1 | DISC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FMR1 | OLFM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TRAF3IP1 | OLFM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DISC1 | OLFM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RUNX1 | OLFM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (34): ASPH (Affinity Capture-MS), TUBA3C (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS), OLFM2 (Affinity Capture-MS), TXNDC11 (Affinity Capture-MS), MANEA (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), OLFM1 (Affinity Capture-MS), OLFM2 (Affinity Capture-MS), MANEA (Affinity Capture-MS), TUBA3C (Affinity Capture-MS), ARNTL2 (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), ASPH (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS)
ESM2 similar proteins: A2BD09, A4IIT5, A6QLD2, O18738, O70624, O75339, O88998, O93279, P05067, P15943, P53601, P63056, P63057, Q06335, Q06481, Q07081, Q0P3W2, Q0V9V5, Q14118, Q14956, Q28685, Q29243, Q29RB4, Q3UZZ4, Q3V1G4, Q5IS80, Q60495, Q62165, Q62609, Q66K08, Q68BL7, Q68BL8, Q6AY06, Q6P7C7, Q6UX06, Q701R2, Q863A3, Q8AXP2, Q8BHP7, Q90372
Diamond homologs: A2BD09, A4IIT5, A6QLD2, B0BNI5, B5MFE9, O70624, O88917, O88923, O88998, O94910, O95490, O95897, O97817, O97827, O97831, P63056, P63057, Q0P3W2, Q0V9V5, Q0VCP3, Q25C36, Q2PT31, Q3UZZ4, Q3V1G4, Q568Y7, Q594P2, Q62609, Q66H86, Q68BL7, Q68BL8, Q6UWY5, Q6UX06, Q80TR1, Q80TS3, Q863A3, Q866N2, Q8BHP7, Q8BK62, Q8BM13, Q8JZZ7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
37 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 3 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1548 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:135088135:CCGGC:C | donor_gain | 1.0000 |
| 9:135088136:CGGC:C | donor_gain | 1.0000 |
| 9:135088137:GGC:G | donor_gain | 1.0000 |
| 9:135088137:GGCG:G | donor_gain | 1.0000 |
| 9:135088138:GC:G | donor_gain | 1.0000 |
| 9:135088138:GCG:G | donor_gain | 1.0000 |
| 9:135088140:G:GG | donor_gain | 1.0000 |
| 9:135088140:G:T | donor_loss | 1.0000 |
| 9:135088141:TAAG:T | donor_loss | 1.0000 |
| 9:135090177:C:A | acceptor_gain | 1.0000 |
| 9:135090191:CCA:C | acceptor_loss | 1.0000 |
| 9:135090192:CAGGT:C | acceptor_loss | 1.0000 |
| 9:135090193:AGG:A | acceptor_loss | 1.0000 |
| 9:135090194:G:C | acceptor_loss | 1.0000 |
| 9:135090341:GAAG:G | donor_gain | 1.0000 |
| 9:135090342:AAGG:A | donor_loss | 1.0000 |
| 9:135090345:G:GG | donor_gain | 1.0000 |
| 9:135090346:T:G | donor_loss | 1.0000 |
| 9:135095985:A:T | donor_gain | 1.0000 |
| 9:135096016:TAAG:T | donor_loss | 1.0000 |
| 9:135096017:AAG:A | donor_loss | 1.0000 |
| 9:135096020:G:GA | donor_loss | 1.0000 |
| 9:135096020:G:GG | donor_gain | 1.0000 |
| 9:135096021:T:A | donor_loss | 1.0000 |
| 9:135106747:A:AG | acceptor_gain | 1.0000 |
| 9:135106748:G:GG | acceptor_gain | 1.0000 |
| 9:135106748:GCTT:G | acceptor_gain | 1.0000 |
| 9:135106852:CCGG:C | donor_gain | 1.0000 |
| 9:135106853:CGG:C | donor_gain | 1.0000 |
| 9:135106854:GG:G | donor_gain | 1.0000 |
AlphaMissense
3223 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:135090261:T:A | C73S | 1.000 |
| 9:135090261:T:C | C73R | 1.000 |
| 9:135090262:G:C | C73S | 1.000 |
| 9:135090267:T:A | C75S | 1.000 |
| 9:135090267:T:C | C75R | 1.000 |
| 9:135090268:G:C | C75S | 1.000 |
| 9:135090269:C:G | C75W | 1.000 |
| 9:135106761:T:C | L230S | 1.000 |
| 9:135106761:T:G | L230W | 1.000 |
| 9:135106808:T:C | F246L | 1.000 |
| 9:135106810:C:A | F246L | 1.000 |
| 9:135106810:C:G | F246L | 1.000 |
| 9:135106811:G:A | G247R | 1.000 |
| 9:135106811:G:C | G247R | 1.000 |
| 9:135106812:G:A | G247E | 1.000 |
| 9:135106812:G:T | G247V | 1.000 |
| 9:135106817:T:A | W249R | 1.000 |
| 9:135106817:T:C | W249R | 1.000 |
| 9:135106819:G:C | W249C | 1.000 |
| 9:135106819:G:T | W249C | 1.000 |
| 9:135119507:T:A | W263R | 1.000 |
| 9:135119507:T:C | W263R | 1.000 |
| 9:135119568:T:C | F283S | 1.000 |
| 9:135119612:T:A | W298R | 1.000 |
| 9:135119612:T:C | W298R | 1.000 |
| 9:135119618:G:C | G300R | 1.000 |
| 9:135119619:G:A | G300D | 1.000 |
| 9:135119619:G:T | G300V | 1.000 |
| 9:135119765:T:A | W349R | 1.000 |
| 9:135119765:T:C | W349R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000146549 (9:135088206 G>A), RS1000193007 (9:135075732 G>A,T), RS1000213939 (9:135100556 G>C), RS1000239522 (9:135074097 G>T), RS1000246322 (9:135107521 C>A,G,T), RS1000390479 (9:135099687 T>A,C), RS1000404060 (9:135103639 G>A), RS1000453878 (9:135104306 C>T), RS1000472932 (9:135085695 C>A,G,T), RS1000596807 (9:135107756 C>T), RS1000652199 (9:135112743 T>G), RS1000768120 (9:135112566 G>C), RS1000853281 (9:135095123 T>C), RS1000895710 (9:135120565 C>T), RS1000985681 (9:135106508 C>G,T)
Disease associations
OMIM: gene MIM:605366 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001325_1 | Response to hepatitis C treatment | 1.000000e-06 |
| GCST001762_105 | Obesity-related traits | 1.000000e-06 |
| GCST003940_1 | Trans-epidermal water loss | 8.000000e-10 |
| GCST006102_14 | Interleukin-10 levels | 2.000000e-06 |
| GCST006585_2246 | Blood protein levels | 3.000000e-09 |
| GCST007327_105 | Smoking status (ever vs never smokers) | 4.000000e-10 |
| GCST008810_64 | Smoking initiation (ever regular vs never regular) | 1.000000e-08 |
| GCST010396_313 | Gut microbiota (bacterial taxa, hurdle binary method) | 6.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004697 | estradiol measurement |
| EFO:0004750 | interleukin 10 measurement |
| EFO:0004318 | smoking behavior |
| EFO:0005670 | smoking initiation |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects expression, decreases expression, increases expression | 8 |
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 7 |
| bisphenol A | decreases reaction, increases expression | 6 |
| sodium arsenite | affects methylation, decreases expression, increases expression | 3 |
| Genistein | increases expression | 3 |
| entinostat | affects cotreatment, increases expression | 2 |
| Resveratrol | increases expression, decreases expression, affects cotreatment | 2 |
| Fulvestrant | decreases reaction, increases expression, decreases expression | 2 |
| Vorinostat | affects cotreatment, increases expression, decreases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases methylation, affects methylation, decreases expression | 2 |
| Diethylstilbestrol | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Silicon Dioxide | decreases expression, increases expression | 2 |
| Zearalenone | increases expression | 2 |
| bisphenol F | increases expression, decreases reaction | 1 |
| methylmercuric chloride | increases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| o,p’-DDT | increases expression | 1 |
| afimoxifene | decreases reaction, increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, decreases expression | 1 |
| manganese chloride | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, decreases expression, affects cotreatment | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | affects expression, affects methylation | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| bisphenol S | increases expression, decreases reaction | 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): chronic hepatitis C virus infection