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Aliases for SFTPA2 Gene

Aliases for SFTPA2 Gene

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

External Ids for SFTPA2 Gene

Previous GeneCards Identifiers for SFTPA2 Gene

  • GC10M080272
  • GC10M080525
  • GC10M081528
  • GC10M080980
  • GC10M081305
  • GC10M075310

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 Pulmonary Fibrosis. Among its related pathways are Diseases of metabolism and Phagosome. GO annotations related to this gene include carbohydrate binding. An important paralog of this gene is COLEC11.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFTPA2 Gene

Genomics for SFTPA2 Gene

Regulatory Elements for SFTPA2 Gene

Enhancers for SFTPA2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SFTPA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SFTPA2 Gene

Chromosome:
10
Start:
79,555,852 bp from pter
End:
79,560,459 bp from pter
Size:
4,608 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

Proteomics data for SFTPA2 Gene at MOPED

Post-translational modifications for SFTPA2 Gene

Other Protein References for SFTPA2 Gene

No data available for DME Specific Peptides for SFTPA2 Gene

Domains & Families for SFTPA2 Gene

Gene Families for SFTPA2 Gene

Protein Domains for SFTPA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWL1

UniProtKB/Swiss-Prot:

SFPA2_HUMAN :
  • Contains 1 C-type lectin domain.
  • Belongs to the SFTPA family.
Domain:
  • Contains 1 C-type lectin domain.
  • Contains 1 collagen-like domain.
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 for SFTPA2 Gene

GenomeRNAi human phenotypes for SFTPA2:
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

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , 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
Jensen Localization Image for SFTPA2 Gene COMPARTMENTS Subcellular localization image for SFTPA2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
cytoskeleton 2
nucleus 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 IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with SFTPA2: view

Pathways & Interactions for SFTPA2 Gene

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

Interacting Proteins for SFTPA2 Gene

Gene Ontology (GO) - Biological Process for SFTPA2 Gene

None

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 0
genes like me logo Genes that share compounds with SFTPA2: view

Transcripts for SFTPA2 Gene

mRNA/cDNA for SFTPA2 Gene

(8) REFSEQ mRNAs :
(28) Additional mRNA sequences :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SFTPA2 Gene

Surfactant protein A2:
Representative Sequences:

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

No ASD Table

Relevant External Links for SFTPA2 Gene

GeneLoc Exon Structure for
SFTPA2
ECgene alternative splicing isoforms for
SFTPA2

Expression for SFTPA2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for SFTPA2 Gene



SOURCE GeneReport for Unigene cluster for SFTPA2 Gene Hs.523084

genes like me logo Genes that share expression patterns with SFTPA2: view

Protein tissue co-expression partners for SFTPA2 Gene

- Elite partner

Primer Products

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 35
  • 98.25 (n)
  • 97.58 (a)
SFTPA2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 61 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Sftpa1 36
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves SFTPA1 35
  • 53.67 (n)
  • 42.66 (a)
SP-A 36
  • 39 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 50 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CR847898.1 36
  • 21 (a)
ManyToMany
hbl1 36
  • 29 (a)
ManyToMany
hbl2 36
  • 30 (a)
ManyToMany
hbl3 36
  • 28 (a)
ManyToMany
hbl4 36
  • 31 (a)
ManyToMany
Species with no ortholog for SFTPA2:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SFTPA2 Gene

Paralogs for SFTPA2 Gene

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

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 from dbSNP and Humsavar for SFTPA2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1059046 - 79,559,458(-) CCTCA(A/C/G)CCTCA reference, missense
rs192907309 - 79,559,336(+) TTTGA(C/G)ACCAT reference, missense
rs17886395 - 79,558,907(-) GGGAG(C/G)CTGGC reference, missense
rs1965708 - 79,557,289(-) AAGAG(A/C)AGTGT reference, missense
VAR_063518 -

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

Variant ID Type Subtype PubMed ID
nsv436110 CNV Deletion 17901297
essv24085 CNV CNV 17122850
nsv8694 CNV Gain 18304495

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)

Relevant External Links for SFTPA2 Gene

Human Gene Mutation Database (HGMD)
SFTPA2

Disorders for SFTPA2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SFTPA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
pulmonary fibrosis
  • fibrosis of lung
idiopathic interstitial pneumonia
  • idiopathic pulmonary fibrosis
pulmonary fibrosis, familial
  • familial interstitial pneumonia
pulmonary surfactant metabolism dysfunction
  • pulmonary alveolar proteinosis
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for SFTPA2

Genetic Association Database (GAD)
SFTPA2
Human Genome Epidemiology (HuGE) Navigator
SFTPA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SFTPA2
genes like me logo Genes that share disorders with SFTPA2: view

No data available for Genatlas for SFTPA2 Gene

Publications for SFTPA2 Gene

  1. 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. (Am. J. Physiol. 2010) 3 4 67
  2. DNA methylation profile and expression of surfactant protein A2 gene in lung cancer. (PMID: 25514367) Grageda M. … Floros J. (Exp. Lung Res. 2015) 3
  3. Genetic variation in SP-A2 leads to differential binding to Mycoplasma pneumoniae membranes and regulation of host responses. (PMID: 25957169) Ledford J.G. … Hollingsworth J.W. (J. Immunol. 2015) 3
  4. Human Surfactant Proteins A2 (SP-A2) and B (SP-B) Genes as Determinants of Respiratory Distress Syndrome. (PMID: 26061924) Abuelhamed W.A. … Rabie W.A. (Indian Pediatr 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for SFTPA2 Gene

Sources for SFTPA2 Gene

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