MATN2 Gene Summary [Human]

This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
MATN2
Official Name
matrilin 2 [Source:HGNC Symbol;Acc:HGNC:6908]
Ensembl ID
ENSG00000132561
Bio databases IDs NCBI: 4147 Ensembl: ENSG00000132561
Aliases matrilin 2
Synonyms Crtm2, LOC100503446, matrilin-2
Species
Human, Homo sapiens
OrthologiesMouseRat

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 MATN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • von Willebrand factor (vWF) type A domain
  • Trimeric coiled-coil oligomerization domain of matrilin
  • vWFA
  • extracellular matrix structural constituent
  • coiled-coil domain
  • EGF domain
  • protein binding
  • von Willebrand factor type A domain
  • Coagulation Factor Xa inhibitory site
  • EGF_CA

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • breast cancer
  • oral squamous cell carcinoma
  • eosinophilic esophagitis
  • squamous cell cancer of the oral cavity
  • plexiform neurofibroma
  • impotence
  • uterine serous papillary cancer
  • autosomal dominant polycystic kidney disease
regulated by
role in cell
  • migration
  • number
  • morphogenesis
  • guidance

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • cell-associated matrix
  • extracellular matrix
  • basement membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MATN2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • neuron migration
  • extracellular matrix organization
  • axon guidance
  • response to axon injury
  • dendrite regeneration
  • glial cell migration

Cellular Component

Where in the cell the gene product is active
  • basement membrane
  • extracellular matrix
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • calcium ion binding
  • extracellular matrix structural constituent

Gene-Specific Assays for Results You Can Trust

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