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 ge... See more...

Aliases for SFTPA2 Gene

Aliases for SFTPA2 Gene

  • Surfactant Protein A2 2 3 5
  • COLEC5 2 3 4
  • 35 KDa Pulmonary Surfactant-Associated Protein 3 4
  • Surfactant, Pulmonary-Associated Protein A2A 2 3
  • Pulmonary Surfactant-Associated Protein A2 3 4
  • Alveolar Proteinosis Protein 3 4
  • SFTPA2B 3 4
  • PSP-A 3 4
  • SFTP1 3 4
  • SP-A2 2 4
  • PSAP 3 4
  • PSPA 3 4
  • SP-A 3 4
  • Surfactant, Pulmonary-Associated Protein A2 2
  • Collectin 5 3
  • Collectin-5 4
  • SFTPA2 5
  • SP-2A 3
  • SPAII 3
  • SFTPA 4
  • SPA2 3

External Ids for SFTPA2 Gene

Previous GeneCards Identifiers for SFTPA2 Gene

  • GC10M080272
  • GC10M080525
  • GC10M081528
  • GC10M080980
  • GC10M081305
  • GC10M075310
  • GC10M079563
  • GC10M079566

Summaries for SFTPA2 Gene

Entrez Gene Summary for SFTPA2 Gene

  • 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]

GeneCards Summary for SFTPA2 Gene

SFTPA2 (Surfactant Protein A2) is a Protein Coding gene. Diseases associated with SFTPA2 include Pulmonary Fibrosis, Idiopathic and Acute Interstitial Pneumonia. Among its related pathways are Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) and Diseases of metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is SFTPA1.

UniProtKB/Swiss-Prot Summary for SFTPA2 Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFTPA2 Gene

Genomics for SFTPA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SFTPA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J079563 Enhancer 0.7 ENCODE 250.7 -1.9 -1861 0.2 ZNF654 MYC REST TRIM22 BHLHE40 CTCF RAD21 CUX1 SMC3 SKIL SFTPA2 lnc-SFTPA2-3 MBL3P SFTPA1 HSALNG0079149-001
GH10J079561 Enhancer 0.5 Ensembl 250.7 -1.1 -1141 0.4 RXRA REST HNF4A CTCF SP1 SFTPA2 lnc-SFTPA2-3 ENSG00000224886 MBL3P SFTPA1 HSALNG0079149-001
GH10J079560 Promoter 0.4 EPDnew 250.7 +0.0 32 0.1 ZFX SFTPA2 lnc-SFTPA2-3 MBL1P EIF5AL1 HSALNG0079149-001
GH10J079936 Enhancer 1.1 FANTOM5 Ensembl ENCODE 10.6 -378.7 -378741 8 BCL11A ZNF341 GABPA IRF4 SPI1 MYC MAX POLR2A ELF1 EGR1 SFTPD MBL1P ANXA11 SFTPA2 CTSLP6 LINC00857 SFTPD-AS1 NUTM2B HSALNG0079166 piR-55809-005
GH10J080046 Enhancer 0.7 ENCODE 10.4 -486.6 -486601 0.2 ZNF654 CTCF REST ZNF511 RAD21 SMC3 YY1 TEAD3 PRDM6 BCL6 TMEM254-AS1 SFTPA2 ENSG00000282432 C1DP4 TMEM254 HSALNG0079172 SFTPD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFTPA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFTPA2

Top Transcription factor binding sites by QIAGEN in the SFTPA2 gene promoter:
  • GR
  • GR-alpha
  • MZF-1
  • NCX
  • Roaz

Genomic Locations for SFTPA2 Gene

Latest Assembly
chr10:79,555,852-79,560,459
(GRCh38/hg38)
Size:
4,608 bases
Orientation:
Minus strand

Previous Assembly
chr10:81,315,608-81,320,163
(GRCh37/hg19 by Entrez Gene)
Size:
4,556 bases
Orientation:
Minus strand

chr10:81,315,608-81,320,153
(GRCh37/hg19 by Ensembl)
Size:
4,546 bases
Orientation:
Minus strand

Genomic View for SFTPA2 Gene

Genes around SFTPA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFTPA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFTPA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFTPA2 Gene

Proteins for SFTPA2 Gene

  • Protein details for SFTPA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWL1-SFPA2_HUMAN
    Recommended name:
    Pulmonary surfactant-associated protein A2
    Protein Accession:
    Q8IWL1
    Secondary Accessions:
    • A4QPA7
    • B2RXI6
    • B2RXK9
    • C9J9I7
    • E3VLC6
    • E3VLC7
    • E3VLC8
    • E3VLC9
    • P07714
    • Q14DV3
    • Q5RIR8
    • Q5RIR9

    Protein attributes for SFTPA2 Gene

    Size:
    248 amino acids
    Molecular mass:
    26182 Da
    Quaternary structure:
    • Oligomeric complex of 6 set of homotrimers.
    Miscellaneous:
    • Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C).

neXtProt entry for SFTPA2 Gene

Post-translational modifications for SFTPA2 Gene

No data available for DME Specific Peptides for SFTPA2 Gene

Domains & Families for SFTPA2 Gene

Gene Families for SFTPA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for SFTPA2 Gene

Suggested Antigen Peptide Sequences for SFTPA2 Gene

GenScript: Design optimal peptide antigens:
  • Surfactant protein A2 variant ABD' 1A0 (E3VLC6_HUMAN)
  • Surfactant protein A2 variant ABD' 1A1 (E3VLC7_HUMAN)
  • Surfactant protein A2 variant ABD' 1A3 (E3VLC9_HUMAN)
  • Surfactant protein A2 variant ABD' 1A5 (E3VLD0_HUMAN)
  • SP-A2 (P78490_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IWL1

UniProtKB/Swiss-Prot:

SFPA2_HUMAN :
  • Belongs to the SFTPA family.
Family:
  • Belongs to the SFTPA family.
genes like me logo Genes that share domains with SFTPA2: view

Function for SFTPA2 Gene

Molecular function for SFTPA2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SFTPA2 Gene

Gene Ontology (GO) - Molecular Function for SFTPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with SFTPA2: view
genes like me logo Genes that share phenotypes with SFTPA2: view

Human Phenotype Ontology for SFTPA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPA2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SFTPA2 Gene

Localization for SFTPA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFTPA2 Gene

Secreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface film.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFTPA2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
endosome 3
plasma membrane 2
cytoskeleton 2
nucleus 2
mitochondrion 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SFTPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005771 multivesicular body IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with SFTPA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFTPA2 Gene

Pathways & Interactions for SFTPA2 Gene

genes like me logo Genes that share pathways with SFTPA2: view

Gene Ontology (GO) - Biological Process for SFTPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0007585 respiratory gaseous exchange IEA --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with SFTPA2: view

No data available for SIGNOR curated interactions for SFTPA2 Gene

Drugs & Compounds for SFTPA2 Gene

(1) Drugs for SFTPA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with SFTPA2: view

Transcripts for SFTPA2 Gene

mRNA/cDNA for SFTPA2 Gene

3 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPA2

Alternative Splicing Database (ASD) splice patterns (SP) for SFTPA2 Gene

No ASD Table

Relevant External Links for SFTPA2 Gene

GeneLoc Exon Structure for
SFTPA2

Expression for SFTPA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFTPA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SFTPA2 Gene

This gene is overexpressed in Lung (x51.9).

Protein differential expression in normal tissues from HIPED for SFTPA2 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SFTPA2 Gene



Protein tissue co-expression partners for SFTPA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFTPA2

SOURCE GeneReport for Unigene cluster for SFTPA2 Gene:

Hs.523084

Evidence on tissue expression from TISSUES for SFTPA2 Gene

  • Lung(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SFTPA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SFTPA2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for SFTPA2 Gene

Orthologs for SFTPA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SFTPA2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SFTPA2 29 30
  • 98.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sftpa1 30
  • 71 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 65 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 61 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 58 (a)
OneToMany
Chicken
(Gallus gallus)
Aves SFTPA1 29
  • 53.67 (n)
SP-A 30
  • 39 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 50 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii hbl4 30
  • 31 (a)
ManyToMany
hbl2 30
  • 30 (a)
ManyToMany
hbl1 30
  • 29 (a)
ManyToMany
hbl3 30
  • 28 (a)
ManyToMany
CR847898.1 30
  • 21 (a)
ManyToMany
Species where no ortholog for SFTPA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SFTPA2 Gene

ENSEMBL:
Gene Tree for SFTPA2 (if available)
TreeFam:
Gene Tree for SFTPA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFTPA2: view image
Alliance of Genome Resources:
Additional Orthologs for SFTPA2

Paralogs for SFTPA2 Gene

Paralogs for SFTPA2 Gene

(6) SIMAP similar genes for SFTPA2 Gene using alignment to 3 proteins:

  • SFPA2_HUMAN
  • E3VLD0_HUMAN
  • R4GMN3_HUMAN

Pseudogenes.org Pseudogenes for SFTPA2 Gene

genes like me logo Genes that share paralogs with SFTPA2: view

Variants for SFTPA2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SFTPA2 Gene

SFPA2_HUMAN-Q8IWL1
At least 6 alleles of SFTPA2 are known: 1A, 1A(0), 1A(1), 1A(2), 1A(3) and 1A(4). The sequence shown is that of allele 1A(0).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFTPA2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1031824 Pathogenic: Idiopathic Pulmonary Fibrosis 79,557,232(-) G/A
NM_001098668.4(SFTPA2):c.724C>T (p.Arg242Ter)
NONSENSE
985062 Uncertain Significance: Inborn genetic diseases 79,557,424(-) C/T
NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met)
MISSENSE
998238 Pathogenic: Idiopathic Pulmonary Fibrosis 79,559,481(-) C/A
NM_001098668.4(SFTPA2):c.3G>T (p.Met1Ile)
INITIATIOR_CODON_VARIANT,MISSENSE
rs1059046 Benign: not specified 79,559,458(-) G/Tp.Asn9Thr
NM_001098668.4(SFTPA2):c.26C>A (p.Thr9Asn)
MISSENSE
rs121917737 Pathogenic: Idiopathic Pulmonary Fibrosis. Pulmonary fibrosis, idiopathic (IPF) [MIM:178500] 79,557,264(-) C/Ap.Gly231Val
NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SFTPA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SFTPA2 Gene

Variant ID Type Subtype PubMed ID
dgv152e214 CNV gain 21293372
esv3578979 CNV loss 25503493
esv3623916 CNV loss 21293372
nsv436110 CNV deletion 17901297
nsv8694 CNV gain 18304495
nsv948083 CNV duplication 23825009
nsv948090 CNV duplication 23825009

Variation tolerance for SFTPA2 Gene

Residual Variation Intolerance Score: 87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.56; 44.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFTPA2 Gene

Human Gene Mutation Database (HGMD)
SFTPA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFTPA2
Leiden Open Variation Database (LOVD)
SFTPA2

SNP Genotyping and Copy Number Assays for research

Disorders for SFTPA2 Gene

MalaCards: The human disease database

(24) MalaCards diseases for SFTPA2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
pulmonary fibrosis, idiopathic
  • ipf
acute interstitial pneumonia
  • accelerated interstitial pneumonia
pulmonary fibrosis
  • fibrosis of lung
idiopathic interstitial pneumonia
  • diffuse idiopathic pulmonary fibrosis
lung disease
  • lung diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SFPA2_HUMAN
  • Pulmonary fibrosis, idiopathic (IPF) [MIM:178500]: A lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. {ECO:0000269 PubMed:19100526}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SFTPA2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SFTPA2: view

No data available for Genatlas for SFTPA2 Gene

Publications for SFTPA2 Gene

  1. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. (PMID: 19100526) Wang Y … Garcia CK (American journal of human genetics 2009) 3 4 72
  2. Polymorphisms in the surfactant protein a gene are associated with the susceptibility to recurrent urinary tract infection in chinese women. (PMID: 20448439) Liu J … Ding G (The Tohoku journal of experimental medicine 2010) 3 40
  3. Human SP-A1 (SFTPA1) variant-specific 3' UTRs and poly(A) tail differentially affect the in vitro translation of a reporter gene. (PMID: 20693318) Silveyra P … Floros J (American journal of physiology. Lung cellular and molecular physiology 2010) 3 4
  4. Surfactant protein A and D gene polymorphisms and protein expression in victims of sudden infant death. (PMID: 18983439) Stray-Pedersen A … Rognum TO (Acta paediatrica (Oslo, Norway : 1992) 2009) 3 40
  5. Comprehensive linkage and association analyses identify haplotype, near to the TNFSF15 gene, significantly associated with spondyloarthritis. (PMID: 19543369) Zinovieva E … Breban M (PLoS genetics 2009) 3 40

Products for SFTPA2 Gene

Sources for SFTPA2 Gene