OLFM2
gene geneOn this page
Also known as OlfCNOE2
Summary
OLFM2 (olfactomedin 2, HGNC:17189) is a protein-coding gene on chromosome 19p13.2, encoding Noelin-2 (O95897). Involved in transforming growth factor beta (TGF-beta)-induced smooth muscle differentiation.
Involved in positive regulation of smooth muscle cell differentiation. Acts upstream of or within protein secretion. Located in cytoplasm; extracellular region; and nucleoplasm.
Source: NCBI Gene 93145 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 83 total
- MANE Select transcript:
NM_058164
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17189 |
| Approved symbol | OLFM2 |
| Name | olfactomedin 2 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OlfC, NOE2 |
| Ensembl gene | ENSG00000105088 |
| Ensembl biotype | protein_coding |
| OMIM | 617492 |
| Entrez | 93145 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000264833, ENST00000590410, ENST00000590841, ENST00000592448, ENST00000593091, ENST00000882493, ENST00000923214, ENST00000971550
RefSeq mRNA: 3 — MANE Select: NM_058164
NM_001304347, NM_001304348, NM_058164
CCDS: CCDS12221, CCDS77230, CCDS92509
Canonical transcript exons
ENST00000264833 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000674937 | 9857263 | 9857482 |
| ENSE00001136208 | 9853718 | 9854863 |
| ENSE00001263159 | 9936304 | 9936515 |
| ENSE00003480231 | 9856807 | 9856913 |
| ENSE00003612836 | 9857715 | 9857861 |
| ENSE00003613265 | 9860645 | 9860794 |
Expression profiles
Bgee: expression breadth ubiquitous, 173 present calls, max score 98.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.8778 / max 364.2967, expressed in 1083 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179051 | 4.5546 | 737 |
| 179050 | 1.3302 | 374 |
| 179049 | 1.2878 | 383 |
| 179045 | 1.2809 | 416 |
| 179046 | 0.6219 | 321 |
| 179047 | 0.6150 | 257 |
| 179044 | 0.5368 | 78 |
| 179052 | 0.4446 | 243 |
| 179048 | 0.2060 | 113 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 98.78 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.57 | gold quality |
| ventricular zone | UBERON:0003053 | 98.32 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.99 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.57 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.22 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.13 | gold quality |
| amygdala | UBERON:0001876 | 95.50 | gold quality |
| skin of leg | UBERON:0001511 | 95.40 | gold quality |
| caudate nucleus | UBERON:0001873 | 94.58 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.18 | gold quality |
| hypothalamus | UBERON:0001898 | 94.10 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.09 | gold quality |
| putamen | UBERON:0001874 | 94.01 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.17 | gold quality |
| neocortex | UBERON:0001950 | 92.22 | gold quality |
| frontal cortex | UBERON:0001870 | 91.66 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.50 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.03 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.01 | gold quality |
| zone of skin | UBERON:0000014 | 90.79 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.53 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.29 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.18 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.53 | gold quality |
| forebrain | UBERON:0001890 | 89.11 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.84 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.66 | gold quality |
| brain | UBERON:0000955 | 88.05 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.52 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 23.04 |
| E-MTAB-5061 | yes | 5.98 |
| E-ANND-3 | yes | 3.46 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
49 targeting OLFM2, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-363-5P | 99.46 | 64.51 | 1015 |
Literature-anchored findings (GeneRIF, showing 7)
- The Arg144Gln mutation in OLFM2 is a possible disease-causing mutation in Japanese patients with OAG. Common polymorphisms in OLFM2 and OPTN may interactively contribute to the development of OAG, indicating a polygenic etiology. (PMID:17122126)
- Olfm2 physically interacts with serum response factor (SRF) without affecting the SRF-myocardin interaction. (PMID:25298399)
- Our study indicates that OLFM2 is likely to be important in mammalian eye development and disease and should be considered as a gene for human ocular anomalies. (PMID:27844144)
- plasma OLFM2 is a potential biomarker for restenosis and may be a novel target for the treatment of restenosis. (PMID:29553861)
- New Insights of OLFM2 and OLFM4 in Gut-Liver Axis and Their Potential Involvement in Nonalcoholic Fatty Liver Disease. (PMID:35806447)
- The Role of Olfactomedin 2 in the Adipose Tissue-Liver Axis and Its Implication in Obesity-Associated Nonalcoholic Fatty Liver Disease. (PMID:36982296)
- OLFM2 promotes epithelial-mesenchymal transition, migration, and invasion in colorectal cancer through the TGF-beta/Smad signaling pathway. (PMID:38350902)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | olfm2a | ENSDARG00000077847 |
| danio_rerio | olfm2b | ENSDARG00000102825 |
| mus_musculus | Olfm2 | ENSMUSG00000032172 |
| rattus_norvegicus | Olfm2 | ENSRNOG00000020519 |
Paralogs (9): MYOC (ENSG00000034971), OLFM4 (ENSG00000102837), OLFML3 (ENSG00000116774), OLFM3 (ENSG00000118733), OLFM1 (ENSG00000130558), OLFML2B (ENSG00000162745), OLFML1 (ENSG00000183801), OLFML2A (ENSG00000185585), GLDN (ENSG00000186417)
Protein
Protein identifiers
Noelin-2 — O95897 (reviewed: O95897)
Alternative names: Olfactomedin-2
All UniProt accessions (4): O95897, K7EIS8, K7EKW2, K7ELC6
UniProt curated annotations — full annotation on UniProt →
Function. Involved in transforming growth factor beta (TGF-beta)-induced smooth muscle differentiation. TGF-beta induces expression and translocation of OLFM2 to the nucleus where it binds to SRF, causing its dissociation from the transcriptional repressor HEY2/HERP1 and facilitating binding of SRF to target genes. Plays a role in AMPAR complex organization. Is a regulator of vascular smooth-muscle cell (SMC) phenotypic switching, that acts by promoting RUNX2 and inhibiting MYOCD binding to SRF. SMC phenotypic switching is the process through which vascular SMCs undergo transition between a quiescent contractile phenotype and a proliferative synthetic phenotype in response to pathological stimuli. SMC phenotypic plasticity is essential for vascular development and remodeling.
Subunit / interactions. 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 OLFM2. 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 GRIA2. Interacts with OLFM1 and OLFM3. Interacts with SRF; the interaction promotes dissociation of SRF from the transcriptional repressor HEY2. Interacts with RUNX2.
Subcellular location. Secreted. Synapse. Membrane. Nucleus. Cytoplasm.
Tissue specificity. Expressed in aortic smooth muscle (at protein level). In the fetus, expressed in the brain and ocular tissues including lens vesicle and optic cup.
Post-translational modifications. N-glycosylated.
Induction. By TGF-beta.
RefSeq proteins (3): NP_001291276, NP_001291277, NP_477512* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003112 | Olfac-like_dom | Domain |
| IPR022082 | Noelin_dom | Domain |
| IPR050605 | Olfactomedin-like_domain | Family |
Pfam: PF02191, PF12308
UniProt features (17 total): glycosylation site 6, sequence variant 3, mutagenesis site 2, coiled-coil region 2, signal peptide 1, chain 1, disulfide bond 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95897-F1 | 84.37 | 0.54 |
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 (1): 195–377
Glycosylation sites (6): 441, 74, 155, 275, 310, 399
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 144 | no effect on secretion. |
| 420 | completely blocks secretion. also significantly inhibits secretion of olfm1 and olfm3. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 105 (showing top):
MYOGENIN_Q6, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, PAX8_B, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_SECRETION, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, MODULE_342, GOCC_PLASMA_MEMBRANE_SIGNALING_RECEPTOR_COMPLEX, GOBP_MUSCLE_CELL_DIFFERENTIATION, GOCC_AMPA_GLUTAMATE_RECEPTOR_COMPLEX, GOCC_SYNAPSE
GO Biological Process (4): signal transduction (GO:0007165), protein secretion (GO:0009306), positive regulation of smooth muscle cell differentiation (GO:0051152), regulation of vascular associated smooth muscle cell dedifferentiation (GO:1905174)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), AMPA glutamate receptor complex (GO:0032281), synapse (GO:0045202), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| regulation of cellular process | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| cellular response to stimulus | 1 |
| protein transport | 1 |
| secretion by cell | 1 |
| establishment of protein localization to extracellular region | 1 |
| protein localization to extracellular region | 1 |
| smooth muscle cell differentiation | 1 |
| positive regulation of muscle cell differentiation | 1 |
| regulation of smooth muscle cell differentiation | 1 |
| regulation of developmental process | 1 |
| vascular associated smooth muscle cell dedifferentiation | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| ionotropic glutamate receptor complex | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
890 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OLFM2 | AVPR2 | P30518 | 479 |
| OLFM2 | OPTN | Q96CV9 | 476 |
| OLFM2 | UBL5 | Q9BZL1 | 446 |
| OLFM2 | GRIA1 | P42261 | 437 |
| OLFM2 | COL5A3 | P25940 | 417 |
| OLFM2 | FBXL12 | Q9NXK8 | 405 |
| OLFM2 | TCF23 | Q7RTU1 | 402 |
| OLFM2 | PRKCSH | P14314 | 394 |
| OLFM2 | ISYNA1 | Q9NPH2 | 392 |
| OLFM2 | SH3BGR | P55822 | 390 |
| OLFM2 | PIDD1 | Q9HB75 | 382 |
| OLFM2 | GUK1 | Q16774 | 376 |
| OLFM2 | RBMS2 | Q15434 | 371 |
| OLFM2 | KRTAP8-1 | Q8IUC2 | 369 |
| OLFM2 | OCIAD2 | Q56VL3 | 367 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OLFM1 | OLFM2 | psi-mi:“MI:0914”(association) | 0.640 |
| FBXO6 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SDF2L1 | OLFM2 | psi-mi:“MI:0914”(association) | 0.640 |
| OLFM2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| OLFM2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| OLFM2 | NOTCH2NLC | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-3 | OLFM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| ADAMTS4 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| C1orf54 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| BLOC1S6 | OLFM2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OLFM2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM3 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CGA | TRIO | psi-mi:“MI:0914”(association) | 0.350 |
| CXCL5 | OLFM2 | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM3 | OLFM2 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-G | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| IL5RA | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| NCR3 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJB9 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (117): KRTAP10-3 (Two-hybrid), OLFM2 (Affinity Capture-MS), KRTAP10-3 (Two-hybrid), OLFM2 (Affinity Capture-MS), ZFHX4 (Affinity Capture-MS), RNF40 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), DVL2 (Affinity Capture-MS), FEM1B (Affinity Capture-MS), OLFM2 (Affinity Capture-MS), KDM5C (Affinity Capture-MS), MSTO1 (Affinity Capture-MS), LRIF1 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), CBY1 (Affinity Capture-MS)
ESM2 similar proteins: A2AV25, A5PJQ2, O35764, O43278, O43827, O70165, O95841, O95897, P02675, P02678, P04115, P12804, P14480, P30203, P33573, Q0P4P2, Q14314, Q1RMR1, Q24K15, Q29041, Q29042, Q29RY7, Q2KJ51, Q2TNK5, Q568Y7, Q5EA66, Q5FB95, Q5I2E5, Q5XK91, Q640P2, Q6AX44, Q6TMA8, Q8BM13, Q8IUK5, Q8K0E8, Q8N539, Q8NI99, Q8R0Z6, Q8R1Q3, Q91ZV7
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
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 4 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1361 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:9856803:TCACC:T | donor_loss | 1.0000 |
| 19:9856804:CA:C | donor_loss | 1.0000 |
| 19:9856805:AC:A | donor_gain | 1.0000 |
| 19:9856805:ACCC:A | donor_loss | 1.0000 |
| 19:9856806:CC:C | donor_gain | 1.0000 |
| 19:9856909:ACAGC:A | acceptor_gain | 1.0000 |
| 19:9856910:CAGC:C | acceptor_gain | 1.0000 |
| 19:9856910:CAGCC:C | acceptor_gain | 1.0000 |
| 19:9856914:C:CC | acceptor_gain | 1.0000 |
| 19:9857262:CCCAG:C | donor_gain | 1.0000 |
| 19:9857266:G:C | donor_gain | 1.0000 |
| 19:9857710:CCCA:C | donor_loss | 1.0000 |
| 19:9857712:CA:C | donor_loss | 1.0000 |
| 19:9857714:C:CG | donor_loss | 1.0000 |
| 19:9860639:TCTCA:T | donor_loss | 1.0000 |
| 19:9860640:CTCA:C | donor_loss | 1.0000 |
| 19:9860643:A:AC | donor_gain | 1.0000 |
| 19:9860644:C:CC | donor_gain | 1.0000 |
| 19:9860644:CCTT:C | donor_gain | 1.0000 |
| 19:9860790:AGAGT:A | acceptor_gain | 1.0000 |
| 19:9860791:GAGT:G | acceptor_gain | 1.0000 |
| 19:9860793:GT:G | acceptor_gain | 1.0000 |
| 19:9860795:C:CC | acceptor_gain | 1.0000 |
| 19:9869062:ATC:A | donor_gain | 1.0000 |
| 19:9869064:C:A | donor_gain | 1.0000 |
| 19:9856800:CACT:C | donor_loss | 0.9900 |
| 19:9856801:ACTC:A | donor_loss | 0.9900 |
| 19:9856805:A:AC | donor_gain | 0.9900 |
| 19:9856806:C:CC | donor_gain | 0.9900 |
| 19:9856806:CCCGG:C | donor_gain | 0.9900 |
AlphaMissense
2962 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:9854252:G:C | N433K | 1.000 |
| 19:9854252:G:T | N433K | 1.000 |
| 19:9854257:A:G | W432R | 1.000 |
| 19:9854257:A:T | W432R | 1.000 |
| 19:9854602:A:G | W317R | 1.000 |
| 19:9854602:A:T | W317R | 1.000 |
| 19:9856843:C:A | W217C | 1.000 |
| 19:9856843:C:G | W217C | 1.000 |
| 19:9856845:A:G | W217R | 1.000 |
| 19:9856845:A:T | W217R | 1.000 |
| 19:9856850:C:T | G215D | 1.000 |
| 19:9856852:G:C | F214L | 1.000 |
| 19:9856852:G:T | F214L | 1.000 |
| 19:9856854:A:G | F214L | 1.000 |
| 19:9854247:C:A | G435V | 0.999 |
| 19:9854247:C:T | G435D | 0.999 |
| 19:9854253:T:A | N433I | 0.999 |
| 19:9854255:C:A | W432C | 0.999 |
| 19:9854255:C:G | W432C | 0.999 |
| 19:9854265:A:G | L429P | 0.999 |
| 19:9854265:A:T | L429H | 0.999 |
| 19:9854287:A:C | Y422D | 0.999 |
| 19:9854315:G:C | N412K | 0.999 |
| 19:9854315:G:T | N412K | 0.999 |
| 19:9854365:A:C | Y396D | 0.999 |
| 19:9854410:A:C | Y381D | 0.999 |
| 19:9854412:A:G | L380P | 0.999 |
| 19:9854420:G:C | C377W | 0.999 |
| 19:9854421:C:A | C377F | 0.999 |
| 19:9854421:C:T | C377Y | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000022610 (19:9859871 G>A,C), RS1000048748 (19:9913836 G>A,T), RS1000068125 (19:9853803 CTGGGGG>C,CTGGGGGTGGGGG), RS1000069185 (19:9933426 CG>C), RS1000093022 (19:9873464 G>T), RS1000119150 (19:9924575 C>T), RS1000128128 (19:9868154 G>A), RS1000195440 (19:9916529 CA>C), RS1000205352 (19:9897012 C>T), RS1000207431 (19:9906605 A>G), RS1000254798 (19:9907369 C>A,T), RS1000287804 (19:9927509 G>T), RS1000295555 (19:9871784 C>G), RS1000377592 (19:9883646 T>C), RS1000386966 (19:9929562 C>G,T)
Disease associations
OMIM: gene MIM:617492 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000880_35 | Menarche (age at onset) | 2.000000e-07 |
| GCST002541_117 | Menarche (age at onset) | 2.000000e-13 |
| GCST003993_19 | Menarche (age at onset) | 1.000000e-06 |
| GCST006585_1182 | Blood protein levels | 6.000000e-157 |
| GCST006914_11 | Sleep duration | 1.000000e-10 |
| GCST90000025_553 | Appendicular lean mass | 3.000000e-16 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases methylation | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | affects response to substance, affects cotreatment, increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Asbestos, Serpentine | increases methylation | 1 |
| Palmitic Acid | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.