SFTPA2 (surfactant protein A2)

Gene

• Entrez ID: 729238
• Gene name: Surfactant protein A2
• Gene symbol: SFTPA2
• Synonyms: COLEC5, PSAP, PSP-A, PSPA, SFTP1, SFTPA2B, SP-2A, SP-A, SPA2, SPAII
• Chromosome: 10
• Chromosome location: 10q22.3
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917737	C>A	Pathogenic	Missense variant, coding sequence variant
rs121917738	A>G	Pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002224	Process	Toll-like receptor signaling pathway	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005771	Component	Multivesicular body	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005791	Component	Rough endoplasmic reticulum	IBA	21873635
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0042599	Component	Lamellar body	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045334	Component	Clathrin-coated endocytic vesicle	TAS

Other IDs

• MIM: 178642
• HGNC: 10799
• e!Ensembl: ENSG00000185303

Protein

• UniProt ID: Q8IWL1
• Protein name: Pulmonary surfactant-associated protein A2 (PSP-A) (PSPA) (SP-A) (SP-A2) (35 kDa pulmonary surfactant-associated protein) (Alveolar proteinosis protein) (Collectin-5)
• Protein function: In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00059	Lectin_C	144 → 248	Lectin C-type domain	Domain

• Sequence:

  MWLCPLALNLILMAASGAACEVKDVCVGSPGIPGTPGSHGLPGRDGRDGVKGDPGPPGPM
  GPPGETPCPPGNNGLPGAPGVPGERGEKGEAGERGPPGLPAHLDEELQATLHDFRHQILQ
  TRGALSLQGSIMTVGEKVFSSNGQSITFDAIQEACARAGGRIAVPRNPEENEAIASFVKK
  YNTYAYVGLTEGPSPGDFRYSDGTPVNYTNWYRGEPAGRGKEQCVEMYTDGQWNDRNCLY
  SRLTICEF

• Sequence length: 248

Pathways

KEGG:

Phagosome
Pertussis

Reactome:

Toll Like Receptor 4 (TLR4) Cascade
Toll Like Receptor TLR1:TLR2 Cascade
Signal regulatory protein family interactions
Surfactant metabolism
Regulation of TLR by endogenous ligand
Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF)
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)

Associated diseases

Disease name	Disease term	References
	Bronchiectasis
	Cirrhosis
	Hamman-Rich Disease
	Gastroesophageal reflux disease
	Honeycomb lung
	Bronchioloalveolar Adenocarcinoma
	Pulmonary arterial hypertension
	Idiopathic pulmonary arterial hypertension
	Pulmonary Fibrosis
	Idiopathic Pulmonary Fibrosis	26568241, 19100526
	Familial Idiopathic Pulmonary Fibrosis
	Hamman-Rich syndrome	19100526