SFTPA2 Gene Summary [Human]
This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | SFTPA2 |
| Official Name | surfactant protein A2 [Source:HGNC Symbol;Acc:HGNC:10799] |
| Ensembl ID | ENSG00000185303 |
| Bio databases IDs | |
| Aliases | surfactant protein A2, surfactant, pulmonary-associated protein A2A |
| Synonyms | COLEC5, ILD2, PSAP, PSP-A, SFTP1, SFTPA2B, SP-2A, SP-A, SPA2, SPAII, surfactant protein A2 |
| Species | Human, Homo sapiens |
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 SFTPA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- C-type lectin (CTL)/C-type lectin-like (CTLD) domain
- Lectin C-type domain
- Collagen triple helix repeat (20 copies)
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- familial idiopathic pulmonary fibrosis
- lung adenocarcinoma
- lung adenocarcinoma formation
- plaque psoriasis
- idiopathic pulmonary fibrosis
role in cell
- production in
- apoptosis
- expression in
- molecular cleavage in
- transcription in
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
- endoplasmic reticulum membrane
- alveolar epithelial lamellar bodies
- endocytotic vesicle
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SFTPA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- respiratory gaseous exchange
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- extracellular space
- collagen
- multivesicular body
- clathrin-coated endocytic vesicle
- extracellular region
- lamellar body
Molecular Function
What the gene product does at the molecular level
- protein binding
- carbohydrate binding