ADAM19
ADAM Metallopeptidase Domain 19 (Meltrin Beta)
Gene Information Card
| Symbol | ADAM19 |
|---|---|
| Full Name | ADAM Metallopeptidase Domain 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 8728 ncbi.nlm.nih.gov/gene/8728 |
| Ensembl ID | ENSG00000135074 |
| UniProt ID | Q9H013 |
| OMIM ID | 603640 |
| HGNC ID | 197 |
| Aliases | MLTNB, FKSG34, MADDAM |
Description
ADAM19 (ADAM Metallopeptidase Domain 19) encodes a member of the ADAM (a disintegrin and metalloprotease) family. The protein is a transmembrane metalloprotease involved in cell adhesion, migration, and proteolytic processing of membrane-bound proteins, including growth factors and cytokines. It plays critical roles in development, immune response, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | ADAM19 overexpression promotes tumor cell invasion and metastasis via shedding of cell surface receptors and remodeling of extracellular matrix. | NCBI Gene, COSMIC |
| Cardiovascular disease | ADAM19 is implicated in vascular remodeling and atherosclerosis through modulation of inflammatory cytokine shedding. | NCBI Gene, UniProt |
| Asthma | ADAM19 variants are associated with airway hyperresponsiveness and asthma susceptibility in genome-wide association studies. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Placenta | 15.1 | High |
| Spleen | 6.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 14.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 9.8 | Medium expression |
| K562 (leukemia) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.567_568insC | Frameshift | <0.01% | Predicted loss of function; rare in population |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in the metalloprotease domain are predicted to abolish catalytic activity.
Gain of Function (GOF)
Not well characterized; some missense variants may increase shedding activity but evidence is limited.
Dominant Negative (DN)
Not reported for ADAM19.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • integrin binding |
| • extracellular matrix disassembly | • cell adhesion |
| • proteolysis | • membrane |
Pathways
• ADAM-mediated ectodomain shedding
• Integrin signaling
• Notch signaling (via ADAM-mediated processing)
Protein Summary
ADAM19 is a type I transmembrane protein containing a prodomain, a metalloprotease domain, a disintegrin domain, a cysteine-rich region, and a cytoplasmic tail. The metalloprotease domain is responsible for cleaving cell surface proteins such as TNF-alpha, neuregulin, and various growth factor receptors. The disintegrin domain mediates interactions with integrins, influencing cell adhesion and migration. ADAM19 is widely expressed in immune cells, epithelial tissues, and the cardiovascular system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAM19 Knockout HEK293 Cell Line | EDJ-KQ6344 | Human | 8728 | Details Get a Quote |
| ADAM19 Knockout A-549 Cell Line | EDJ-KQ30290 | Human | 8728 | Details Get a Quote |
| ADAM19 Knockout HCT 116 Cell Line | EDJ-KQ30291 | Human | 8728 | Details Get a Quote |
| ADAM19 Knockout HeLa Cell Line | EDJ-KQ30292 | Human | 8728 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
