OSR2: Odd-Skipped Related Transcription Factor 2
A key regulator of embryonic development and craniofacial morphogenesis
Gene Information Card
| Symbol | OSR2 |
|---|---|
| Full Name | Odd-Skipped Related Transcription Factor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 8q22.2 |
| NCBI Gene ID | 116039 ncbi.nlm.nih.gov/gene/116039 |
| Ensembl ID | ENSG00000164920 |
| UniProt ID | Q8N2R0 |
| OMIM ID | 611297 |
| HGNC ID | 18362 |
| Aliases | Odd-skipped related 2, OSR2 transcription factor |
Description
OSR2 encodes a zinc-finger transcription factor belonging to the odd-skipped family. It plays a critical role in embryonic development, particularly in craniofacial morphogenesis, kidney formation, and limb patterning. OSR2 regulates gene expression by binding to specific DNA sequences and is essential for mesenchymal cell differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofacial microsomia | OSR2 mutations disrupt neural crest cell migration and patterning, leading to asymmetric facial development. | OMIM #611297; PMID: 21763484 |
| Congenital heart defects | OSR2 deficiency affects cardiac neural crest cells, contributing to outflow tract anomalies. | PMID: 23505220 |
| Kidney agenesis/hypoplasia | OSR2 loss impairs ureteric bud branching and nephron formation. | PMID: 21763484 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.1 | Low |
| Testis | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| A549 | 4.8 | Lung carcinoma |
| HepG2 | 3.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171Ter) | Nonsense | Rare | Loss of function; associated with craniofacial microsomia |
| c.674G>A (p.Arg225Gln) | Missense | Rare | Reduced DNA-binding affinity; likely pathogenic |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein; associated with craniofacial and kidney developmental defects.
Gain of Function (GOF)
Not reported in OSR2.
Dominant Negative (DN)
Missense mutations in the zinc-finger domain may interfere with wild-type function; evidence limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neural crest cell differentiation
• Ureteric bud development
• TGF-beta signaling pathway (indirect regulation)
Protein Summary
OSR2 is a 266-amino acid zinc-finger transcription factor with three C2H2-type zinc fingers. It localizes to the nucleus and binds to GC-rich DNA sequences. The protein is highly conserved among vertebrates and is expressed predominantly in developing mesenchyme. OSR2 interacts with other transcription factors to regulate cell proliferation and differentiation during organogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSR2 Knockout HEK293 Cell Line | EDJ-KQ7543 | Human | 116039 | Details Get a Quote |
| OSR2 Knockout A-549 Cell Line | EDJ-KQ32837 | Human | 116039 | Details Get a Quote |
| OSR2 Knockout HCT 116 Cell Line | EDJ-KQ32838 | Human | 116039 | Details Get a Quote |
| OSR2 Knockout HeLa Cell Line | EDJ-KQ32839 | Human | 116039 | Details Get a Quote |
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