OLFM2: Olfactomedin 2 - A Secreted Glycoprotein in Neural and Retinal Development
Comprehensive genomic and proteomic analysis of OLFM2, including gene structure, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | OLFM2 |
|---|---|
| Full Name | olfactomedin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 93145 ncbi.nlm.nih.gov/gene/93145 |
| Ensembl ID | ENSG00000130558 |
| UniProt ID | O95897 |
| OMIM ID | 607312 |
| HGNC ID | 18088 |
| Aliases | NOELIN, OLF2 |
Description
OLFM2 (olfactomedin 2) encodes a secreted glycoprotein belonging to the olfactomedin family. It is involved in neural crest cell development, retinal ganglion cell axon guidance, and modulation of bone morphogenetic protein (BMP) signaling. The protein contains an olfactomedin-like domain and is expressed in the eye, brain, and other tissues. Variants in OLFM2 have been associated with high myopia and primary open-angle glaucoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| High myopia | Missense variants (e.g., p.Arg144Trp) may alter protein function affecting ocular growth regulation. | ClinVar, PMID: 23396134 |
| Primary open-angle glaucoma (POAG) | Rare variants in OLFM2 may contribute to increased intraocular pressure and optic nerve damage. | ClinVar, PMID: 28341476 |
| Neural tube defects | Potential role in neural development; association suggested but not confirmed. | OMIM #607312 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Eye | 18.3 | High |
| Lung | 8.2 | Low |
| Heart | 6.1 | Low |
| Kidney | 9.4 | Low |
| Testis | 15.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 14.7 | High expression in retinal cells |
| SH-SY5Y (neuroblastoma) | 11.2 | Moderate expression |
| HepG2 (liver) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430C>T (p.Arg144Trp) | Missense | 0.001% | Alters protein function; associated with high myopia |
| c.1018G>A (p.Gly340Ser) | Missense | 0.002% | Uncertain significance; reported in POAG |
| c.1246C>T (p.Arg416Cys) | Missense | 0.0005% | Potential loss-of-function; rare |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg416Cys) may reduce protein secretion or disrupt olfactomedin domain folding, leading to impaired BMP signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in OLFM2.
Dominant Negative (DN)
p.Arg144Trp may exert dominant-negative effects by interfering with dimerization or receptor binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• BMP signaling pathway (Reactome: R-HSA-201451)
• Neural crest differentiation (KEGG: hsa04360)
Protein Summary
Olfactomedin 2 (OLFM2) is a 478-amino-acid secreted glycoprotein with a signal peptide and a C-terminal olfactomedin domain. It is synthesized as a precursor and undergoes proteolytic processing. The protein is involved in cell adhesion, neural crest migration, and modulation of BMP signaling. OLFM2 is expressed in the developing eye and brain, and its dysregulation is linked to ocular disorders such as high myopia and glaucoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OLFM2A Overexpression A-375 Stable Cell Line | EDJ0024-G07 | Human | 169611 | Details Get a Quote |
| OLFM2 Knockout HEK293 Cell Line | EDJ-KQ11180 | Human | 93145 | Details Get a Quote |
| OLFM2 Knockout A-549 Cell Line | EDJ-KQ37896 | Human | 93145 | Details Get a Quote |
| OLFM2 Knockout HCT 116 Cell Line | EDJ-KQ39220 | Human | 93145 | Details Get a Quote |
| OLFM2 Knockout HeLa Cell Line | EDJ-KQ57857 | Human | 93145 | Details Get a Quote |
