ADAM11: A Disintegrin and Metalloproteinase Domain 11
ADAM11 gene structure, function, expression, and disease associations
Gene Information Card
| Symbol | ADAM11 |
|---|---|
| Full Name | ADAM metallopeptidase domain 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 4185 ncbi.nlm.nih.gov/gene/4185 |
| Ensembl ID | ENSG00000108848 |
| UniProt ID | O75078 |
| OMIM ID | 602267 |
| HGNC ID | 191 |
| Aliases | MDC |
Description
ADAM11 (ADAM metallopeptidase domain 11) is a member of the ADAM (a disintegrin and metalloproteinase) family. It encodes a transmembrane protein that contains a disintegrin domain and a metalloprotease domain, though the catalytic activity is predicted to be inactive due to a missing catalytic zinc-binding motif. ADAM11 is primarily expressed in the brain and is involved in cell adhesion, cell-cell interactions, and neural development. It has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ADAM11 expression is reduced in breast cancer tissues; loss may contribute to tumor progression via altered cell adhesion. | NCBI Gene, PubMed (PMID: 10652317) |
| Ovarian cancer | ADAM11 promoter hypermethylation and reduced expression observed in ovarian cancer cell lines and primary tumors. | COSMIC, PubMed (PMID: 15604238) |
| Hereditary spastic paraplegia | Mutations in ADAM11 have been associated with autosomal recessive hereditary spastic paraplegia in a consanguineous family. | OMIM #602267, PubMed (PMID: 27549087) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebellum | 15.2 | High |
| Cerebral cortex | 11.8 | High |
| Spinal cord | 8.3 | Medium |
| Testis | 3.1 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.5 | Neuronal cell line |
| U-87 MG (glioblastoma) | 10.2 | Astrocytoma cell line |
| MCF7 (breast cancer) | 0.8 | Low expression |
| HeLa (cervical cancer) | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.148C>T (p.Arg50*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1012G>A (p.Gly338Arg) | Missense | Rare | Unknown effect; reported in hereditary spastic paraplegia |
| c.1234_1235del (p.Lys412Glufs*19) | Frameshift | Rare | Loss of function; predicted to cause premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg50*, p.Lys412Glufs*19) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADAM11.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ADAM11.
View complete mutation data：
Gene Ontology (GO)
| • GO:0007155 – cell adhesion | • GO:0004222 – metalloendopeptidase activity |
| • GO:0005886 – plasma membrane | • GO:0016021 – integral component of membrane |
| • GO:0008237 – metallopeptidase activity | • GO:0005509 – calcium ion binding |
Pathways
• ADAM-mediated cell adhesion and signaling (Reactome: R-HSA-1442490)
• Integrin cell surface interactions (Reactome: R-HSA-216083)
Protein Summary
ADAM11 is a 758-amino-acid transmembrane protein belonging to the ADAM family. It contains an N-terminal signal peptide, a prodomain, a metalloprotease domain (catalytically inactive due to lack of zinc-binding residues), a disintegrin domain, a cysteine-rich region, an EGF-like domain, a transmembrane domain, and a cytoplasmic tail. The protein is predominantly expressed in the brain and is thought to mediate cell-cell adhesion and interactions with integrins. Its loss has been associated with cancer progression and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAM11 Knockout HEK293 Cell Line | EDJ-KQ5190 | Human | 4185 | Details Get a Quote |
| ADAM11 Knockout A-549 Cell Line | EDJ-KQ28175 | Human | 4185 | Details Get a Quote |
| ADAM11 Knockout HCT 116 Cell Line | EDJ-KQ28176 | Human | 4185 | Details Get a Quote |
| ADAM11 Knockout HeLa Cell Line | EDJ-KQ53856 | Human | 4185 | Details Get a Quote |
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