CHRD (Chordin) Gene
BMP Antagonist in Development and Disease
Gene Information Card
| Symbol | CHRD |
|---|---|
| Full Name | Chordin |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 8646 ncbi.nlm.nih.gov/gene/8646 |
| Ensembl ID | ENSG00000163823 |
| UniProt ID | Q9H2X0 |
| OMIM ID | 603475 |
| HGNC ID | 1949 |
| Aliases | CHRDL, MGC117256 |
Description
The CHRD gene encodes chordin, a secreted protein that binds to bone morphogenetic proteins (BMPs) and inhibits their signaling. Chordin plays a critical role in embryonic development, particularly in neural induction and dorsoventral patterning. It is also implicated in skeletal development and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Holoprosencephaly | Disrupted BMP antagonism leads to forebrain midline defects | OMIM |
| Spondylocostal dysostosis | Altered BMP signaling affects somite segmentation and vertebral formation | OMIM |
| Osteoarthritis | Chordin dysregulation contributes to cartilage degradation | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Heart | 0.5 | Low |
| Liver | 0.2 | Not detected |
| Kidney | 0.3 | Not detected |
| Testis | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
| A549 | 0.3 | Not detected |
| MCF7 | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T | Missense | <0.01% | Unknown |
| c.1234G>A | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations lead to truncated protein and reduced BMP antagonism.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • BMP binding | • BMP signaling pathway |
| • extracellular region | • negative regulation of BMP signaling pathway |
| • embryonic skeletal system development |
Pathways
• BMP signaling pathway
• Neural induction
Protein Summary
Chordin is a 954-amino acid secreted protein containing four cysteine-rich (CR) domains. It binds BMP2, BMP4, and BMP7 with high affinity, preventing their interaction with receptors. Chordin is cleaved by tolloid metalloproteases, which releases BMPs to activate signaling. It is essential for dorsal-ventral patterning during embryogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRDL2 Knockout HEK293 Cell Line | EDJ-KQ8281 | Human | 25884 | Details Get a Quote |
| CHRDL1 Knockout HEK293 Cell Line | EDJ-KQ10797 | Human | 91851 | Details Get a Quote |
| CHRDL2 Knockout A-549 Cell Line | EDJ-KQ34233 | Human | 25884 | Details Get a Quote |
| CHRDL2 Knockout HeLa Cell Line | EDJ-KQ34234 | Human | 25884 | Details Get a Quote |
| CHRD Knockout HEK293 Cell Line | EDJ-KQ50809 | Human | 8646 | Details Get a Quote |
| CHRD Knockout HeLa Cell Line | EDJ-KQ54968 | Human | 8646 | Details Get a Quote |
| CHRDL1 Knockout HeLa Cell Line | EDJ-KQ57813 | Human | 91851 | Details Get a Quote |
| CHRD Knockout A-549 Cell Line | EDJ-KQ63450 | Human | 8646 | Details Get a Quote |
| CHRDL1 Knockout A-549 Cell Line | EDJ-KQ66310 | Human | 91851 | Details Get a Quote |
| CHRD Knockout HCT 116 Cell Line | EDJ-KQ71918 | Human | 8646 | Details Get a Quote |
| CHRDL2 Knockout HCT 116 Cell Line | EDJ-KQ72784 | Human | 25884 | Details Get a Quote |
| CHRDL1 Knockout HCT 116 Cell Line | EDJ-KQ74734 | Human | 91851 | Details Get a Quote |
