HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CHRDL1
chordin like 1
Chromosome X Β· Xq23
NCBI Gene: 91851Ensembl: ENSG00000101938.16HGNC: HGNC:29861UniProt: Q9BU40
32PubMed Papers
21Diseases
0Drugs
22Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
eye developmentcell differentiationnegative regulation of BMP signaling pathwayBMP bindingisolated congenital megalocorneamegalocorneaspinal stenosisventral hernia
✦AI Summary

CHRX (chordin-like 1) encodes a secreted protein that functions as an antagonist of bone morphogenetic protein (BMP) signaling by binding to BMPs and preventing their interaction with receptors 12. The protein plays crucial roles in multiple developmental and cellular processes, including neural stem cell fate determination by promoting neurogenesis over gliogenesis 3, and regulation of retinal angiogenesis through modulation of BMP4 actions in endothelial cells. In cancer biology, CHRX acts as a tumor suppressor across multiple malignancies including gastric cancer, lung adenocarcinoma, colorectal cancer, and thyroid cancer 1425. Its expression is frequently downregulated in tumor tissues through promoter hypermethylation, leading to activation of oncogenic pathways including Akt, Erk, and TGF-Ξ²/VEGF signaling 12. Loss of CHRX promotes tumor cell proliferation, migration, invasion, and angiogenesis 42. The gene is also involved in kidney disease pathophysiology, where its regulation affects BMP-SMAD signaling in proximal tubules 6. Clinically, reduced CHRX expression correlates with poor prognosis and enhanced tumor progression across various cancer types, making it a potential diagnostic biomarker and therapeutic target 75.

Sources cited
1
CHRDL1 acts as BMP antagonist and tumor suppressor in gastric cancer through BMPR II pathway
PMID: 28423564
2
CHRDL1 inhibits colorectal cancer angiogenesis and metastasis via TGF-Ξ²/VEGF pathway
PMID: 38415870
3
CHRDL1 expression is reduced in multiple cancer types and correlates with poor prognosis
PMID: 40287623
4
CHRDL1 inhibits BMP pathway and affects human germ cell specification
PMID: 39996497
5
CHRDL1 is downregulated in thyroid cancer and affects disease progression
PMID: 36749222
6
CHRDL1 regulates BMP-SMAD signaling in kidney disease pathophysiology
PMID: 38809616
7
CHRDL1 identified as diagnostic biomarker for prostate cancer and BPH
PMID: 37781794
Disease Associationsβ“˜21
isolated congenital megalocorneaOpen Targets
0.73Strong
megalocorneaOpen Targets
0.63Moderate
spinal stenosisOpen Targets
0.22Weak
ventral herniaOpen Targets
0.20Weak
Inguinal herniaOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
low grade gliomaOpen Targets
0.18Weak
coronary artery diseaseOpen Targets
0.16Weak
vertebral joint diseaseOpen Targets
0.15Weak
response to surgeryOpen Targets
0.15Weak
Umbilical herniaOpen Targets
0.14Weak
HerniaOpen Targets
0.14Weak
vertebral disorderOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.11Weak
diffuse large B-cell lymphomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
attention deficit hyperactivity disorderOpen Targets
0.10Weak
oral squamous cell carcinomaOpen Targets
0.10Weak
cancerOpen Targets
0.10Suggestive
adolescent idiopathic scoliosisOpen Targets
0.09Suggestive
Megalocornea 1, X-linkedUniProt
Pathogenic Variants22
NM_001143981.2(CHRDL1):c.87dup (p.Val30fs)Likely pathogenic
Isolated congenital megalocornea
β˜…β˜†β˜†β˜†2026β†’ Residue 30
NM_001143981.2(CHRDL1):c.446C>A (p.Ser149Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 149
NM_001143981.2(CHRDL1):c.349G>T (p.Glu117Ter)Pathogenic
Isolated congenital megalocornea
β˜…β˜†β˜†β˜†2024β†’ Residue 117
NM_001143981.2(CHRDL1):c.311T>A (p.Leu104Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 104
NM_001143981.2(CHRDL1):c.145A>T (p.Arg49Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 49
NM_001143981.2(CHRDL1):c.872G>A (p.Cys291Tyr)Likely pathogenic
Isolated congenital megalocornea
β˜…β˜†β˜†β˜†2022β†’ Residue 291
NM_001143981.2(CHRDL1):c.176T>A (p.Leu59Ter)Likely pathogenic
Corneal disorder
β˜…β˜†β˜†β˜†2019β†’ Residue 59
NM_001143981.2(CHRDL1):c.520dup (p.Ser174fs)Pathogenic
Megalocornea
β˜…β˜†β˜†β˜†2014β†’ Residue 174
NM_001143981.2(CHRDL1):c.229C>T (p.Arg77Ter)Pathogenic
Megalocornea
β˜…β˜†β˜†β˜†β†’ Residue 77
NM_001143981.2(CHRDL1):c.301+2T>GPathogenic
Megalocornea
β˜…β˜†β˜†β˜†
NM_001143981.2(CHRDL1):c.1156+1G>TPathogenic
Megalocornea
β˜…β˜†β˜†β˜†
NM_001143981.2(CHRDL1):c.483dup (p.Lys162fs)Pathogenic
Megalocornea
β˜…β˜†β˜†β˜†β†’ Residue 162
NM_001143981.2(CHRDL1):c.436T>G (p.Cys146Gly)Likely pathogenic
Megalocornea
β˜…β˜†β˜†β˜†β†’ Residue 146
NM_001143981.2(CHRDL1):c.976A>T (p.Lys326Ter)Pathogenic
Megalocornea
β˜…β˜†β˜†β˜†β†’ Residue 326
NM_001143981.2(CHRDL1):c.94+1G>APathogenic
Megalocornea
β˜…β˜†β˜†β˜†
NM_001143981.2(CHRDL1):c.1123C>T (p.Gln375Ter)Pathogenic
Megalocornea
β˜†β˜†β˜†β˜†2021β†’ Residue 375
NM_001143981.2(CHRDL1):c.807_808del (p.His270fs)Pathogenic
Megalocornea
β˜†β˜†β˜†β˜†2015β†’ Residue 270
NM_001143981.2(CHRDL1):c.872del (p.Cys291fs)Pathogenic
Megalocornea
β˜†β˜†β˜†β˜†2012β†’ Residue 291
NM_001143981.2(CHRDL1):c.652C>T (p.Arg218Ter)Pathogenic
Megalocornea
β˜†β˜†β˜†β˜†2012β†’ Residue 218
NM_001143981.2(CHRDL1):c.102_103del (p.Glu34fs)Pathogenic
Megalocornea
β˜†β˜†β˜†β˜†2012β†’ Residue 34
View on ClinVar β†—
Related Genes
CHRDL2Shared pathway75%TCF24Shared pathway25%BHLHA9Shared pathway25%ZNF674Shared pathway25%PPDPFLShared pathway25%ETV3LShared pathway25%
Tissue Expression6 tissues
Lung
100%
Heart
42%
Brain
16%
Bone Marrow
12%
Ovary
4%
Liver
2%
Gene Interaction Network
Click a node to explore
CHRDL1CHRDL2TCF24BHLHA9ZNF674PPDPFLETV3L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BU40
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.46 [0.32–0.68]
RankingsWhere CHRDL1 stands among ~20K protein-coding genes
  • #11,483of 20,598
    Most Researched32
  • #2,115of 5,498
    Most Pathogenic Variants22
  • #5,079of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedCHRDL1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mechanisms of Regulation of the
PMID: 37761873
Genes (Basel) Β· 2023
1.00
2
X-Linked Gene Dosage and SOX2 Act as Key Roadblocks for Human Germ Cell Specification in Klinefelter Syndrome.
PMID: 39996497
Adv Sci (Weinh) Β· 2025
0.90
3
Comprehensive pan-cancer analysis of CHRDL1 and experimental validation of its role in lung adenocarcinoma.
PMID: 40287623
BMC Cancer Β· 2025
0.80
4
CHRDL1, NEFH, TAGLN and SYNM as novel diagnostic biomarkers of benign prostatic hyperplasia and prostate cancer.
PMID: 37781794
Cancer Biomark Β· 2023
0.70
5
Lipolysis-Stimulated Lipoprotein Receptor in Proximal Tubule, BMP-SMAD Signaling, and Kidney Disease.
PMID: 38809616
J Am Soc Nephrol Β· 2024
0.60