CHRDL2 Gene (Chordin-Like 2)

Gene, Function, Expression, and Disease Associations

Gene Information Card

Symbol CHRDL2
Full Name Chordin-Like 2
Gene Type Protein-coding
Chromosomal Location 11q14.1
NCBI Gene ID 25884 ncbi.nlm.nih.gov/gene/25884
Ensembl ID ENSG00000149269
UniProt ID Q6WN34
OMIM ID 612400
HGNC ID 29865
Aliases BMPER, CRDL2, MGC45474

Description

CHRDL2 (Chordin-Like 2) encodes a secreted protein that functions as a bone morphogenetic protein (BMP) antagonist. It binds BMPs and inhibits their signaling, playing a role in embryonic development, particularly in bone and cartilage formation. The gene is also implicated in cancer and other diseases.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Osteoarthritis Altered BMP signaling due to CHRDL2 dysregulation may affect cartilage homeostasis. PMID: 21871566
Colorectal Cancer CHRDL2 overexpression may promote tumor growth via BMP pathway modulation. PMID: 23542377
Breast Cancer CHRDL2 expression changes correlate with tumor progression and metastasis. PMID: 25636836

Expression Profile

Tissue Expression
Tissue nTPM level
Bone 0.5 Low
Cartilage 1.2 Medium
Brain 0.3 Low
Heart 0.1 Not detected
Liver 0.0 Not detected
Cell Line Expression
Cell Line nTPM Notes
HeLa 0.8 Low expression
MCF7 1.5 Medium expression
HCT116 2.1 Medium-high expression
A549 0.2 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense <0.01% Unknown functional effect
c.245C>T Nonsense <0.01% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations (e.g., c.245C>T) are predicted to cause loss of function by introducing a premature stop codon.

Gain of Function (GOF)

No gain-of-function mutations have been reported in CHRDL2.

Dominant Negative (DN)

No dominant-negative mutations have been described for CHRDL2.

Gene Ontology (GO)

• BMP binding • BMP signaling pathway
• extracellular region • negative regulation of BMP signaling pathway

Pathways

• BMP signaling pathway (Reactome: R-HSA-201451)

Protein Summary

CHRDL2 is a secreted protein of 428 amino acids (UniProt Q6WN34) that contains a chordin-like domain. It acts as an antagonist of BMP signaling by binding BMP ligands and preventing their interaction with receptors. The protein is involved in developmental processes and has been linked to cancer and osteoarthritis.

Related Products

Product name Cat.No. Species Gene ID
CHRDL2 Knockout HEK293 Cell Line EDJ-KQ8281 Human 25884 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
CHRDL2 Knockout HCT 116 Cell Line EDJ-KQ72784 Human 25884 Details Get a Quote
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