CLMP Gene (CXADR Like Membrane Protein)
Adhesion molecule involved in cell junction formation and associated with congenital short bowel syndrome
Gene Information Card
| Symbol | CLMP |
|---|---|
| Full Name | CXADR Like Membrane Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.1 |
| NCBI Gene ID | 79827 ncbi.nlm.nih.gov/gene/79827 |
| Ensembl ID | ENSG00000137801 |
| UniProt ID | Q9H6B4 |
| OMIM ID | 611878 |
| HGNC ID | 24026 |
| Aliases | ACAM, CAR-like membrane protein, bA129M16.2 |
Description
CLMP (CXADR Like Membrane Protein) encodes a transmembrane protein belonging to the CTX (cortical thymocyte marker in Xenopus) family of the immunoglobulin superfamily. It functions as a cell adhesion molecule, localizing to tight junctions and adherens junctions in epithelial cells. CLMP is involved in regulating cell proliferation, migration, and barrier function. Mutations in CLMP cause congenital short bowel syndrome (CSBS), a rare autosomal recessive disorder characterized by intestinal malrotation and shortened small intestine.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital short bowel syndrome (CSBS) | Loss-of-function mutations in CLMP disrupt tight junction formation and intestinal epithelial integrity, leading to impaired intestinal development and shortening. | OMIM #611878; PMID: 22504885 |
| Colorectal cancer | Downregulation of CLMP expression is associated with increased cell migration and invasion, suggesting a tumor suppressor role. | PMID: 22922744 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Colon | 10.8 | High |
| Kidney | 8.2 | Medium |
| Liver | 5.1 | Medium |
| Lung | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon) | 15.2 | High expression; used in intestinal barrier studies |
| HCT116 (colon) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 6.5 | Moderate expression |
| HeLa (cervical) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Trp82*) | Nonsense | Rare | Loss-of-function; truncation of protein; associated with CSBS |
| c.364C>T (p.Arg122*) | Nonsense | Rare | Loss-of-function; premature stop codon; CSBS |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss-of-function; no protein translation; CSBS |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations in CLMP lead to truncated or absent protein, disrupting tight junction integrity and causing congenital short bowel syndrome.
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)
| • cell adhesion (GO:0007155) | • tight junction assembly (GO:0120192) |
| • protein homodimerization activity (GO:0042803) | • plasma membrane (GO:0005886) |
| • cell-cell junction (GO:0005911) |
Pathways
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
• Tight junction (KEGG: hsa04530)
Protein Summary
CLMP is a 373-amino acid transmembrane protein with a single extracellular Ig-like domain, a transmembrane region, and a cytoplasmic tail. It localizes to tight junctions and adherens junctions, where it mediates homophilic cell adhesion. CLMP interacts with ZO-1 and other junctional proteins to regulate paracellular permeability and epithelial polarity. Loss of CLMP function leads to defective intestinal epithelial barrier and shortened bowel.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLMP Knockout HEK293 Cell Line | EDJ-KQ12013 | Human | 79827 | Details Get a Quote |
| CLMP Knockout A-549 Cell Line | EDJ-KQ40606 | Human | 79827 | Details Get a Quote |
| CLMP Knockout HCT 116 Cell Line | EDJ-KQ40607 | Human | 79827 | Details Get a Quote |
| CLMP Knockout HeLa Cell Line | EDJ-KQ40608 | Human | 79827 | Details Get a Quote |
