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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
  • Surfactant, Pulmonary-Associated Protein A2A 2 3
  • 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 A2 2
  • Pulmonary Surfactant-Associated Protein A2 3
  • Collectin 5 3
  • Collectin-5 4
  • SFTPA 4
  • SP-2A 3
  • 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 Lung fibrosis and Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4). Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is SFTPA1.

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.

Additional gene information for SFTPA2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFTPA2 Gene

Genomics for SFTPA2 Gene

GeneHancer (GH) Regulatory Elements for SFTPA2 Gene

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
GH10I079563 Enhancer 0.7 ENCODE 550.8 -1.9 -1861 0.2 MEIS2 CTCF PKNOX1 RB1 MAX ZNF2 RAD21 CC2D1A CTBP1 ZBTB48 SFTPA2 MBL3P
GH10I079560 Promoter 0.6 EPDnew 550.8 +0.0 32 0.1 ZFX SFTPA2 MBL1P RPS12P18
GH10I079936 Enhancer 1.1 FANTOM5 Ensembl ENCODE 10.6 -377.8 -377843 3.9 MAX IRF4 CTBP1 POLR2A EGR1 ATF7 ETV6 IKZF2 SMARCE1 NRF1 SFTPD MBL1P ANXA11 SFTPA2 CTSLP6 LINC00857 SFTPD-AS1 NUTM2B ENSG00000283913
GH10I080046 Enhancer 0.7 ENCODE 10.4 -486.6 -486601 0.2 ELF3 CTCF RB1 TEAD4 ZNF2 RAD21 TEAD3 SMC3 ZNF143 ZNF654 TMEM254-AS1 SFTPA2 ENSG00000282432 C1DP4
GH10I079610 Promoter 0.5 EPDnew 11.6 -50.5 -50466 0.1 SFTPA1 MBL1P SFTPA2 SFTPA3P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SFTPA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SFTPA2 gene promoter:

Genomic Locations for SFTPA2 Gene

Genomic Locations for SFTPA2 Gene
chr10:79,555,852-79,560,459
(GRCh38/hg38)
Size:
4,608 bases
Orientation:
Minus strand
chr10:81,315,608-81,320,163
(GRCh37/hg19)

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

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:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with SFTPA2: view

Phenotypes for SFTPA2 Gene

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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
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
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:0005578 proteinaceous extracellular matrix IEA --
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

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 Approved 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 :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SFTPA2 Gene

Surfactant protein A2:
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SFTPA2 Gene



Protein tissue co-expression partners for SFTPA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SFTPA2 Gene:

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

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 33 34
  • 98.25 (n)
mouse
(Mus musculus)
Mammalia Sftpa1 34
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 61 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves SFTPA1 33
  • 53.67 (n)
SP-A 34
  • 39 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 50 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii hbl4 34
  • 31 (a)
ManyToMany
hbl2 34
  • 30 (a)
ManyToMany
hbl1 34
  • 29 (a)
ManyToMany
hbl3 34
  • 28 (a)
ManyToMany
CR847898.1 34
  • 21 (a)
ManyToMany
Species where no ortholog for SFTPA2 was found in the sources mined by GeneCards:
  • 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:

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 from dbSNP and Humsavar for SFTPA2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs121917737 pathogenic, Idiopathic fibrosing alveolitis, chronic form 79,557,264(-) C/A coding_sequence_variant, missense_variant
rs121917738 pathogenic, Idiopathic fibrosing alveolitis, chronic form 79,557,363(-) A/G coding_sequence_variant, missense_variant
VAR_063519 Pulmonary fibrosis, idiopathic (IPF) [MIM:178500] p.Phe198Ser
VAR_063520 Pulmonary fibrosis, idiopathic (IPF) [MIM:178500] p.Gly231Val
rs755092596 uncertain-significance, not specified 79,557,598(-) G/C intron_variant

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

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

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

Disorders for SFTPA2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SFTPA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pulmonary fibrosis, idiopathic
  • ipf
pulmonary fibrosis
  • fibrosis of lung
allergic bronchopulmonary aspergillosis
  • pulmonary aspergillus disease
lung disease
  • disorder of lung
idiopathic interstitial pneumonia
  • ipf
- 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.

Additional Disease Information for SFTPA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (American journal of physiology. Lung cellular and molecular physiology 2010) 3 4 58
  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 44 58
  3. 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 44 58
  4. 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 58
  5. 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 44 58

Products for SFTPA2 Gene

Sources for SFTPA2 Gene

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