CHRDL1 (Chordin-Like 1)
A secreted BMP antagonist involved in eye development and neurogenesis
Gene Information Card
| Symbol | CHRDL1 |
|---|---|
| Full Name | Chordin-Like 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | Xq23 |
| NCBI Gene ID | 91851 ncbi.nlm.nih.gov/gene/91851 |
| Ensembl ID | ENSG00000101938 |
| UniProt ID | Q9BU40 |
| OMIM ID | 300350 |
| HGNC ID | 29861 |
| Aliases | MGC1, dA141G9.1, FLJ12089, chordin-like 1 |
Description
CHRDL1 encodes chordin-like 1, a secreted protein that antagonizes bone morphogenetic protein (BMP) signaling by binding BMP4 and BMP2, thereby regulating eye development, neural tube formation, and bone homeostasis. Loss-of-function mutations cause X-linked megalocornea (MGC1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked megalocornea (MGC1) | Loss-of-function mutations in CHRDL1 disrupt BMP antagonism, leading to abnormal anterior chamber development and corneal enlargement. | ClinVar, OMIM #309300 |
| Megalocornea with anterior segment dysgenesis | Impaired BMP inhibition due to CHRDL1 deficiency alters neural crest cell migration and eye morphogenesis. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Eye (retina) | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Heart | 6.0 | Low |
| Lung | 4.5 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.0 | High expression |
| SH-SY5Y (neuroblastoma) | 7.2 | Moderate |
| HeLa (cervical carcinoma) | 2.1 | Low |
| HepG2 (hepatocellular carcinoma) | 1.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, no protein produced |
| c.223C>T (p.Arg75*) | Nonsense | Rare | Premature stop, loss of function |
| c.502_503del (p.Leu168Valfs*12) | Frameshift | Rare | Truncated protein, loss of BMP-binding domain |
| c.646G>A (p.Gly216Arg) | Missense | Rare | Impaired secretion and BMP antagonism |
Mutation functional classification
Loss of Function (LOF)
Most CHRDL1 mutations are loss-of-function, leading to reduced BMP inhibition and causing X-linked megalocornea.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • BMP binding | • BMP signaling pathway |
| • negative regulation of BMP signaling pathway | • extracellular region |
| • eye development | • neural tube closure |
Pathways
• BMP signaling pathway (Reactome R-HSA-201451)
• Regulation of BMP activity (GO:0030514)
Protein Summary
Chordin-like 1 is a 456-amino-acid secreted glycoprotein containing four cysteine-rich (CR) domains. It binds BMP4 and BMP2 with high affinity, preventing their interaction with receptors and thereby modulating embryonic patterning, particularly in the eye and neural tube.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRDL1 Knockout HEK293 Cell Line | EDJ-KQ10797 | Human | 91851 | Details Get a Quote |
| CHRDL1 Knockout HeLa Cell Line | EDJ-KQ57813 | Human | 91851 | Details Get a Quote |
| CHRDL1 Knockout A-549 Cell Line | EDJ-KQ66310 | Human | 91851 | Details Get a Quote |
| CHRDL1 Knockout HCT 116 Cell Line | EDJ-KQ74734 | Human | 91851 | Details Get a Quote |
