OLFML2A Gene - Olfactomedin Like 2A
Comprehensive genomic and functional annotation of OLFML2A
Gene Information Card
| Symbol | OLFML2A |
|---|---|
| Full Name | Olfactomedin Like 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 9q33.2 |
| NCBI Gene ID | 169611 ncbi.nlm.nih.gov/gene/169611 |
| Ensembl ID | ENSG00000185507 |
| UniProt ID | Q5JPE7 |
| OMIM ID | 618627 |
| HGNC ID | 26787 |
| Aliases | OLFML2, hOLFML2, FLJ23514 |
Description
OLFML2A encodes a member of the olfactomedin domain-containing protein family. The protein is involved in extracellular matrix organization and may play a role in neural development and cell adhesion. It is expressed in various tissues, with notable levels in the brain and reproductive organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in OMIM or ClinVar | Not established | No direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 4.8 | Medium |
| Lung | 2.1 | Low |
| Heart | 1.5 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 3.4 | Neuroblastoma cell line |
| HeLa | 2.0 | Cervical carcinoma |
| HepG2 | 1.1 | Hepatocellular carcinoma |
| A549 | 0.9 | Lung carcinoma |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants
Gain of Function (GOF)
No documented gain-of-function variants
Dominant Negative (DN)
No documented dominant-negative variants
View complete mutation data:
Gene Ontology (GO)
| • extracellular region | • protein binding |
| • olfactomedin domain |
Pathways
• No curated pathway associations
Protein Summary
OLFML2A is a secreted protein containing an olfactomedin-like domain. It is implicated in cell adhesion and extracellular matrix interactions. The protein is expressed in multiple tissues, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OLFML2A Knockout HEK293 Cell Line | EDJ-KQ2155 | Human | 169611 | Details Get a Quote |
| OLFML2A Knockout A-549 Cell Line | EDJ-KQ22347 | Human | 169611 | Details Get a Quote |
| OLFML2A Knockout HCT 116 Cell Line | EDJ-KQ22348 | Human | 169611 | Details Get a Quote |
| OLFML2A Knockout HeLa Cell Line | EDJ-KQ22349 | Human | 169611 | Details Get a Quote |