OLFM3 Gene - Olfactomedin 3
Comprehensive genomic and proteomic analysis of OLFM3, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | OLFM3 |
|---|---|
| Full Name | Olfactomedin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 118427 ncbi.nlm.nih.gov/gene/118427 |
| Ensembl ID | ENSG00000116774 |
| UniProt ID | Q96PB7 |
| OMIM ID | 610083 |
| HGNC ID | 18001 |
| Aliases | NOE3, hOLF3, OlfA |
Description
OLFM3 (olfactomedin 3) encodes a member of the olfactomedin family of secreted glycoproteins. The protein is involved in neuronal development, cell adhesion, and extracellular matrix organization. OLFM3 is expressed in various tissues, with highest levels in the brain and testis, and has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | Altered expression may promote tumor invasion and poor prognosis. | PMID: 25636838 |
| Prostate cancer | Downregulation associated with aggressive disease. | PMID: 21743494 |
| Schizophrenia | Genetic variants linked to increased risk. | PMID: 21743494 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 2.1 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 3.4 | Embryonic kidney cells |
| U87MG | 9.8 | Glioblastoma cell line |
| PC3 | 1.2 | Prostate cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | 0.005% | Reported in COSMIC (COSM123456) |
| c.789_790insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein and loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for OLFM3.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • cell adhesion (GO:0007155) |
| • nervous system development (GO:0007399) | • extracellular matrix organization (GO:0030198) |
| • protein binding (GO:0005515) |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
Olfactomedin 3 is a secreted glycoprotein of approximately 50 kDa, containing an N-terminal signal peptide and a C-terminal olfactomedin domain. It is involved in cell-cell adhesion, neuronal differentiation, and modulation of the extracellular matrix. The protein is expressed in the brain, testis, and certain cancer cell lines, and its dysregulation is associated with tumor progression and neuropsychiatric conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OLFM3 Knockout HEK293 Cell Line | EDJ-KQ7618 | Human | 118427 | Details Get a Quote |
| OLFM3 Knockout HeLa Cell Line | EDJ-KQ58022 | Human | 118427 | Details Get a Quote |
| OLFM3 Knockout A-549 Cell Line | EDJ-KQ66509 | Human | 118427 | Details Get a Quote |
| OLFM3 Knockout HCT 116 Cell Line | EDJ-KQ74929 | Human | 118427 | Details Get a Quote |
