CLGN Gene: Calmegin, Endoplasmic Reticulum Chaperone
Comprehensive genomic and functional analysis of CLGN, a testis-specific chaperone involved in spermatogenesis and fertility.
Gene Information Card
| Symbol | CLGN |
|---|---|
| Full Name | Calmegin |
| Gene Type | protein-coding |
| Chromosomal Location | 4q28.3 |
| NCBI Gene ID | 1047 ncbi.nlm.nih.gov/gene/1047 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q14967 |
| OMIM ID | 601285 |
| HGNC ID | 2063 |
| Aliases | CALN, MEGC, calmegin |
Description
CLGN encodes calmegin, a testis-specific endoplasmic reticulum chaperone belonging to the calnexin family. It is essential for proper folding and assembly of proteins involved in spermatogenesis, particularly during the formation of the acrosome and sperm-egg fusion. Loss of CLGN function leads to male infertility due to defective sperm adhesion and impaired fertilization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss of CLGN disrupts chaperone-mediated protein folding in the ER, leading to defective acrosome formation and impaired sperm-egg fusion. | OMIM #601285; Mouse knockout models show complete infertility. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 24.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (testis) | High | Stage-specific expression during meiosis |
| Spermatids (testis) | High | Post-meiotic expression critical for acrosome biogenesis |
| HEK293 | 0.0 | No endogenous expression |
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, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Impaired chaperone activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt protein folding or stability lead to loss of chaperone function, causing spermatogenic failure.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calnexin/calreticulin cycle (Reactome: R-HSA-901042)
• Protein folding in ER (UniProt: Q14967)
Protein Summary
Calmegin is a 558-amino acid type I transmembrane protein localized to the endoplasmic reticulum of testicular germ cells. It functions as a lectin chaperone, binding to N-glycosylated proteins and facilitating their proper folding. Calmegin is critical for the maturation of ADAM family proteins (e.g., ADAM1, ADAM2) required for sperm-egg fusion. Its expression is restricted to the testis, peaking during spermatid elongation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLGN Knockout HEK293 Cell Line | EDJ-KQ4246 | Human | 1047 | Details Get a Quote |
| CLGN Knockout A-549 Cell Line | EDJ-KQ26719 | Human | 1047 | Details Get a Quote |
| CLGN Knockout HCT 116 Cell Line | EDJ-KQ26720 | Human | 1047 | Details Get a Quote |
| CLGN Knockout HeLa Cell Line | EDJ-KQ26721 | Human | 1047 | Details Get a Quote |
