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Aliases for SFTPA2 Gene

Aliases for SFTPA2 Gene

  • Surfactant Protein A2 2 3
  • COLEC5 3 4 6
  • 35 KDa Pulmonary Surfactant-Associated Protein 3 4
  • Alveolar Proteinosis Protein 3 4
  • SFTPA2B 3 4
  • PSP-A 3 4
  • SFTP1 3 4
  • PSAP 3 4
  • SPA2 3 6
  • PSPA 3 4
  • SP-A 3 4
  • Surfactant, Pulmonary-Associated Protein A2A 3
  • Surfactant, Pulmonary-Associated Protein A2 2
  • Pulmonary Surfactant-Associated Protein A2 3
  • Pulmonary-Associated Protein A2A 2
  • Collectin 5 3
  • Collectin-5 4
  • Surfactant 2
  • SPAII 3
  • SFTPA 4
  • SP-A2 4

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 acute interstitial pneumonia. Among its related pathways are Hemostasis and Hemostasis. 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

Genomic Location for SFTPA2 Gene

Start:
79,555,852 bp from pter
End:
79,560,414 bp from pter
Size:
4,563 bases
Orientation:
Minus strand

Genomic View for SFTPA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

  • Glycosylation at Asn207
  • Modification sites at PhosphoSitePlus

Other Protein References for SFTPA2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SFTPA2 Gene

Domains for SFTPA2 Gene

Gene Families for SFTPA2 Gene

HGNC:

Graphical View of Domain Structure for InterPro Entry

Q8IWL1

UniProtKB/Swiss-Prot:

SFPA2_HUMAN :
  • Q8IWL1
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

Gene Ontology (GO) - Molecular Function for SFTPA2 Gene

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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SFTPA2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SFTPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with SFTPA2: view

Pathways for SFTPA2 Gene

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

Pathways by source for SFTPA2 Gene

Interacting Proteins for SFTPA2 Gene

Gene Ontology (GO) - Biological Process for SFTPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007585 respiratory gaseous exchange IEA --
genes like me logo Genes that share ontologies with SFTPA2: view

Compounds for SFTPA2 Gene

(1) HMDB Compounds for SFTPA2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with SFTPA2: view

Transcripts for SFTPA2 Gene

mRNA/cDNA for SFTPA2 Gene

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

Unigene Clusters for SFTPA2 Gene

Surfactant protein A2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SFTPA2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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 (51.9).

Protein differential expression in normal tissues for SFTPA2 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression 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 expressions with SFTPA2: view

Expression partners for SFTPA2 Gene

In Situ Assay 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

Selected 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

Q8IWL1-SFPA2_HUMAN
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 MAF
rs4794 -- 79,556,116(+) AAGAT(C/T)TTGTC utr-variant-3-prime
rs9408 -- 79,557,057(-) ATTCC(C/T)CTGAT utr-variant-3-prime
rs1059046 - 79,559,458(-) CCTCA(A/C/G)CCTCA missense, reference
rs1059082 -- 79,556,847(-) ACACA(A/G)AGTGC utr-variant-3-prime
rs1059083 -- 79,556,791(-) CCCAG(A/T)GCCAT utr-variant-3-prime

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

Relevant External Links for SFTPA2 Gene

HapMap Linkage Disequilibrium report
SFTPA2
Human Gene Mutation Database (HGMD)
SFTPA2

Disorders for SFTPA2 Gene

(1) OMIM Diseases for SFTPA2 Gene (178642)

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.

(2) University of Copenhagen DISEASES for SFTPA2 Gene

Relevant External Links for SFTPA2

Genetic Association Database (GAD)
SFTPA2
Human Genome Epidemiology (HuGE) Navigator
SFTPA2
genes like me logo Genes that share disorders with SFTPA2: view

No data available for Novoseek inferred disease relationships and Genatlas for SFTPA2 Gene

Publications for SFTPA2 Gene

  1. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 48
  4. Studies of the structure of lung surfactant protein SP-A. (PMID: 2610270) Haagsman H.P. … Clements J.A. (Am. J. Physiol. 1989) 3 4
  5. Isolation and characterization of cDNA clones for the 35-kDa pulmonary surfactant-associated protein. (PMID: 3755136) Floros J. … Fritsch E.F. (J. Biol. Chem. 1986) 3 4

Products for SFTPA2 Gene

Sources for SFTPA2 Gene

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