SFTPA2 (surfactant protein A2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 729238
Gene name Surfactant protein A2
Gene symbol SFTPA2
Synonyms (NCBI Gene)
COLEC5ILD2PSAPPSP-APSPASFTP1SFTPA2BSP-2ASP-ASPA2SPAII
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 a
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
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
miRNA miRNA information provided by mirtarbase database.
47
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (47)
miRTarBase ID miRNA Experiments Reference
MIRT1342124 hsa-miR-134 CLIP-seq
MIRT1342125 hsa-miR-2110 CLIP-seq
MIRT1342126 hsa-miR-3115 CLIP-seq
MIRT1342127 hsa-miR-3118 CLIP-seq
MIRT1342128 hsa-miR-3164 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
178642 10799 ENSG00000185303
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Phagosome
Pertussis 		  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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Interstitial lung disease 2 Pathogenic; Likely pathogenic rs2132046635, rs2132045183, rs1319818753, rs121917737, rs121917738 RCV001780092
RCV001784080
RCV002284288
RCV000014086
RCV000014087
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary fibrosis Pathogenic rs121917737 RCV002509155
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Familial cancer of breast Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS — CTD, Disgenet, GenCC, Orphanet
CTD, Disgenet, GenCC, Orphanet
CTD, Disgenet, GenCC, Orphanet
CTD, Disgenet, GenCC, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SFTPA2-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (208)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15996209, 25514367
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 20466729, 26792177, 9375708
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 20963503, 23406594
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26627638 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31864418, 34374777, 37232225 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29249381
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 16947381
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis BEFREE 27788934
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28130491
★★★★★
★☆☆☆☆
Found in Text Mining only