ADAM23: A Disintegrin and Metalloproteinase Domain 23
Key regulator of cell adhesion, migration, and synaptic function with implications in cancer and neurological disorders
Gene Information Card
| Symbol | ADAM23 |
|---|---|
| Full Name | ADAM metallopeptidase domain 23 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.3 |
| NCBI Gene ID | 8745 ncbi.nlm.nih.gov/gene/8745 |
| Ensembl ID | ENSG00000114948 |
| UniProt ID | O75077 |
| OMIM ID | 603710 |
| HGNC ID | 203 |
| Aliases | MDC-3, ADAM23, disintegrin metalloproteinase domain 23 |
Description
ADAM23 (ADAM metallopeptidase domain 23) encodes a member of the ADAM (a disintegrin and metalloproteinase) family. The encoded protein contains a disintegrin domain and a metalloprotease-like domain, but lacks catalytic activity due to mutations in the zinc-binding site. ADAM23 is involved in cell-cell and cell-matrix adhesion, cell migration, and synaptic function. It is highly expressed in the brain and plays a role in neuronal development and plasticity. Dysregulation of ADAM23 is associated with various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | ADAM23 promoter hypermethylation leads to reduced expression, promoting tumor invasion and metastasis. | NCBI Gene, COSMIC |
| Gastric Cancer | Loss of ADAM23 expression via methylation correlates with poor prognosis and increased metastatic potential. | NCBI Gene, COSMIC |
| Lung Cancer | ADAM23 downregulation is associated with tumor progression and reduced patient survival. | NCBI Gene, COSMIC |
| Epilepsy | ADAM23 variants may alter synaptic adhesion and neuronal excitability, contributing to seizure susceptibility. | OMIM, ClinVar |
| Intellectual Disability | Homozygous loss-of-function mutations in ADAM23 are linked to neurodevelopmental delay. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Medium |
| Lung | 1.8 | Low |
| Breast | 0.9 | Low |
| Stomach | 0.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| U87MG (glioblastoma) | 6.1 | Brain cancer line |
| MCF7 (breast cancer) | 1.2 | Low expression |
| A549 (lung cancer) | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53Cys) | Missense | Rare | Alters disintegrin domain; associated with epilepsy |
| c.1018G>A (p.Gly340Arg) | Missense | Rare | May affect protein stability; reported in intellectual disability |
| c.1234delC (p.Leu412Trpfs*5) | Frameshift | Very rare | Loss-of-function; linked to neurodevelopmental disorders |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the disintegrin domain lead to loss of adhesive function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADAM23.
Dominant Negative (DN)
Missense mutations in the disintegrin domain may exert dominant-negative effects by interfering with wild-type protein interactions.
View complete mutation data：
Gene Ontology (GO)
| • GO:0007155 – cell adhesion | • GO:0005178 – integrin binding |
| • GO:0008233 – peptidase activity | • GO:0005886 – plasma membrane |
| • GO:0007268 – chemical synaptic transmission | • GO:0007411 – axon guidance |
Pathways
• Integrin-mediated cell adhesion
• ADAM-mediated cell-cell interaction
• Synaptic adhesion and signaling
Protein Summary
ADAM23 is a transmembrane protein of the ADAM family, characterized by a disintegrin domain and a catalytically inactive metalloprotease domain. It mediates cell adhesion through integrin binding and is crucial for neuronal development and synaptic function. The protein is predominantly expressed in the brain and is involved in processes such as axon guidance and synaptic plasticity. Loss of ADAM23 expression due to promoter methylation is common in several cancers, contributing to tumor invasion and metastasis. Germline mutations in ADAM23 are associated with epilepsy and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAM23 Knockout HEK293 Cell Line | EDJ-KQ6346 | Human | 8745 | Details Get a Quote |
| ADAM23 Knockout A-549 Cell Line | EDJ-KQ30296 | Human | 8745 | Details Get a Quote |
| ADAM23 Knockout HeLa Cell Line | EDJ-KQ30297 | Human | 8745 | Details Get a Quote |
| ADAM23 Knockout HCT 116 Cell Line | EDJ-KQ71948 | Human | 8745 | Details Get a Quote |
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