ADAM12 Gene Summary [Human]
This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
Details
| Type | Protein Coding |
| Official Symbol | ADAM12 |
| Official Name | ADAM metallopeptidase domain 12 [Source:HGNC Symbol;Acc:HGNC:190] |
| Ensembl ID | ENSG00000148848 |
| Bio databases IDs | |
| Aliases | ADAM metallopeptidase domain 12, meltrin alpha |
| Synonyms | ADAM12-OT1, ADAM metallopeptidase domain 12, CAR10, MCMP, MCMPMltna, meltrin alpha, meltrin α, MLTN, MLTNA |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ADAM12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Reprolysin family propeptide
- metalloprotease domain
- peptidase
- protein binding
- EGF-like domain
- proline rich domain
- disintergrin domain
- SH3-domain binding
- Sh3 domain binding motif
- metallopeptidase
- ZnMc
- ADAM cysteine-rich
- cytoplasmic domain
- Metallo-peptidase family M12B Reprolysin-like
- transmembrane domain
- Disintegrin
- Reprolysin (M12B) family zinc metalloprotease
- tail domain
- cytosolic tail domain
- disintegrin-like domain
- pro domain
- cysteine rich domain
Pathways
Biological processes and signaling networks where the ADAM12 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- neoplasia
- metastasis
- advanced cancer
- cancer
- Alzheimer disease
- psoriasis
- breast cancer
- eosinophilic inflammation
- colon cancer
role in cell
- cell death
- expression in
- upregulation in
- phosphorylation in
- migration
- apoptosis
- invasion by
- proliferation
- number
- activity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cell surface
- Extracellular Space
- intracellular space
- cellular membrane
- Endoplasmic Reticulum
- cell-cell contacts
- granules
- trans Golgi network
- nucleoplasm
- early endosomes
- endocytotic vesicle
- cell membrane leading edge
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ADAM12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- proteolysis
- myoblast fusion
- cell adhesion
- positive regulation of angiogenesis
Cellular Component
Where in the cell the gene product is active
- extracellular region
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- SH3 domain binding
- metalloendopeptidase activity
- metallopeptidase activity