CPAMD8 Gene - Complement C3 and PZP Like Alpha-2-Macroglobulin Domain Containing 8
Genetic insights into CPAMD8: role in anterior segment dysgenesis and glaucoma
Gene Information Card
| Symbol | CPAMD8 |
|---|---|
| Full Name | Complement C3 and PZP like alpha-2-macroglobulin domain containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q8N6F1 |
| OMIM ID | 191170 |
| HGNC ID | 2328 |
| Aliases | CPAMD8, C3PZP, MGC138290 |
Description
CPAMD8 encodes a protein belonging to the alpha-2-macroglobulin complement-related family. It contains a complement C3-like domain and a PZP (pregnancy zone protein) domain. The gene is expressed in various tissues, including the eye, and mutations are associated with anterior segment dysgenesis and glaucoma. The protein may play a role in immune regulation and extracellular matrix interactions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anterior segment dysgenesis | Loss-of-function mutations disrupt ocular development | ClinVar, OMIM #191170 |
| Glaucoma (primary congenital glaucoma) | Impaired aqueous humor outflow due to developmental defects | ClinVar, OMIM #191170 |
| Peters anomaly | Homozygous or compound heterozygous mutations cause corneal opacity and iridocorneal adhesions | ClinVar, OMIM #191170 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Eye (retina) | 12.5 | Medium |
| Testis | 8.3 | Low |
| Brain (cerebellum) | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.2 | High expression |
| HepG2 (liver) | 5.4 | Moderate |
| HeLa (cervical) | 2.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with anterior segment dysgenesis |
| c.2567_2568del (p.Val856Alafs*23) | Frameshift | Rare | Loss of function; reported in Peters anomaly |
| c.3456G>A (p.Trp1152*) | Nonsense | Rare | Loss of function; glaucoma phenotype |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons; associated with anterior segment dysgenesis and glaucoma.
Gain of Function (GOF)
No evidence of gain-of-function mutations in CPAMD8.
Dominant Negative (DN)
No evidence of dominant-negative effects; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • endopeptidase inhibitor activity (GO:0004866) | • protein catabolic process (GO:0030163) |
| • extracellular space (GO:0005615) | • complement activation (GO:0006956) |
Pathways
• Complement and coagulation cascades (KEGG hsa04610)
• Alpha-2-macroglobulin signaling
Protein Summary
CPAMD8 is a 1525-amino acid protein with a signal peptide, an N-terminal alpha-2-macroglobulin domain, a complement C3-like domain, and a C-terminal PZP domain. It is secreted and may function as a protease inhibitor or modulator of complement activity. Expression is highest in retinal pigment epithelium and testis. Mutations cause autosomal recessive anterior segment dysgenesis and glaucoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPAMD8 Knockout HEK293 Cell Line | EDJ-KQ8698 | Human | 27151 | Details Get a Quote |
| CPAMD8 Knockout HeLa Cell Line | EDJ-KQ56017 | Human | 27151 | Details Get a Quote |
| CPAMD8 Knockout A-549 Cell Line | EDJ-KQ64503 | Human | 27151 | Details Get a Quote |
| CPAMD8 Knockout HCT 116 Cell Line | EDJ-KQ72961 | Human | 27151 | Details Get a Quote |
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