ADAM21: A Disintegrin and Metalloproteinase Domain-Containing Protein 21
Comprehensive genomic and proteomic overview of ADAM21, a member of the ADAM family involved in cell adhesion and proteolysis.
Gene Information Card
| Symbol | ADAM21 |
|---|---|
| Full Name | ADAM metallopeptidase domain 21 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 8747 ncbi.nlm.nih.gov/gene/8747 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9UKF5 |
| OMIM ID | 604700 |
| HGNC ID | 200 |
| Aliases | ADAM 21, MDC21, ADAM21.1, ADAM21.2 |
Description
ADAM21 (ADAM metallopeptidase domain 21) is a member of the ADAM (a disintegrin and metalloproteinase) family. This gene encodes a transmembrane protein that contains a metalloprotease domain, a disintegrin domain, and a cysteine-rich region. ADAM21 is involved in cell-cell and cell-matrix interactions, proteolytic processing, and signaling. It is predominantly expressed in the brain and testis, and its dysregulation has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and potential role in cell adhesion and invasion | COSMIC database reports somatic mutations in multiple cancer types; limited functional evidence |
| Alzheimer's disease | Potential involvement in APP processing due to metalloprotease activity | Hypothetical based on ADAM family function; no direct evidence in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Testis | 1.8 | Low |
| Lung | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
| Kidney | 0.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 0.8 | Low expression |
| A549 (lung carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.02% (COSMIC) | Unknown functional impact |
| c.567C>T (p.Arg189*) | Nonsense | <0.01% (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg189*) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADAM21.
Dominant Negative (DN)
No dominant-negative mutations have been described for ADAM21.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004222 - metalloendopeptidase activity | • GO:0007155 - cell adhesion |
| • GO:0005886 - plasma membrane | • GO:0008237 - metallopeptidase activity |
| • GO:0016021 - integral component of membrane |
Pathways
• ADAM-mediated ectodomain shedding (Reactome: R-HSA-3928662)
• Integrin cell surface interactions (Reactome: R-HSA-216083)
Protein Summary
ADAM21 is a transmembrane protein of the ADAM family, characterized by a prodomain, a metalloprotease domain, a disintegrin domain, a cysteine-rich region, and a cytoplasmic tail. The metalloprotease domain is predicted to be catalytically active, though specific substrates remain largely unknown. The disintegrin domain may mediate interactions with integrins, influencing cell adhesion and migration. ADAM21 is primarily expressed in brain and testis, suggesting roles in neural development and spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAM21 Knockout HEK293 Cell Line | EDJ-KQ6347 | Human | 8747 | Details Get a Quote |
| ADAM21 Knockout HCT 116 Cell Line | EDJ-KQ30298 | Human | 8747 | Details Get a Quote |
| ADAM21 Knockout HeLa Cell Line | EDJ-KQ54996 | Human | 8747 | Details Get a Quote |
| ADAM21 Knockout A-549 Cell Line | EDJ-KQ63480 | Human | 8747 | Details Get a Quote |
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