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    SFTPA2 surfactant protein A2 [ Homo sapiens (human) ]

    Gene ID: 729238, updated on 13-Feb-2019

    Summary

    Official Symbol
    SFTPA2provided by HGNC
    Official Full Name
    surfactant protein A2provided by HGNC
    Primary source
    HGNC:HGNC:10799
    See related
    Ensembl:ENSG00000185303 MIM:178642
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PSAP; PSPA; SP-A; SPA2; PSP-A; SFTP1; SP-2A; SPAII; COLEC5; SFTPA2B
    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 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]
    Annotation information
    Note: In the NCBI Build 36 reference assembly, there were four SFTPA genes on chromosome 10, with the SFTPA1/SFTPA2 gene pair being centromeric to a SFTPA1B/SFTPA2B pair. In June 2009, the Genome Reference Consortium determined that the duplicated region containing one of these gene pairs is in error, and thus, only one SFTPA1/SFTPA2 pair is present in the GRCh37 reference assembly. [13 Feb 2013]
    Expression
    Restricted expression toward lung (RPKM 5398.9) See more
    Orthologs

    Genomic context

    See SFTPA2 in Genome Data Viewer
    Location:
    10q22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (79555852..79560461, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81315608..81320177, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 5A-like 1 Neighboring gene ribosomal protein S12 pseudogene 18 Neighboring gene mannose-binding lectin family member 3, pseudogene Neighboring gene surfactant protein A3, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • ABC transporter disorders, organism-specific biosystem (from REACTOME)
      ABC transporter disorders, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that utilise the energy from the hydrolysis of ATP to facilitate the movement of a wide variety of substrates...
    • Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3), organism-specific biosystem (from REACTOME)
      Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3), organism-specific biosystemATP-binding cassette sub-family A member 3 (ABCA3) is thought to play a role in the formation of pulmonary surfactant by transporting lipids such as cholesterol into lamellar bodies (LBs) in alveolar...
    • Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4), organism-specific biosystem (from REACTOME)
      Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4), organism-specific biosystemSurfactant catabolism by alveolar macrophages plays a small but critical part in surfactant recycling and metabolism. Upon ligand binding, granulocyte-macrophage colony-stimulating factor receptor (G...
    • Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5), organism-specific biosystem (from REACTOME)
      Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5), organism-specific biosystemSurfactant catabolism by alveolar macrophages plays a small but critical part in surfactant recycling and metabolism. Upon ligand binding, granulocyte-macrophage colony-stimulating factor receptor (G...
    • Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF), organism-specific biosystem (from REACTOME)
      Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF), organism-specific biosystemOne function of the pulmonary collectins, surfactant proteins A1, A2, A3 and D (SFTPAs, D), is that they influence surfactant homeostasis, contributing to the physical structures of lipids in the alv...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with surfactant metabolism, organism-specific biosystem (from REACTOME)
      Diseases associated with surfactant metabolism, organism-specific biosystemThe reactions annotated here describe genetic defects in genes regulating surfactant homeostasis which are associated with severe acute and chronic lung diseases in newborns and older infants (Whitse...
    • Diseases of metabolism, organism-specific biosystem (from REACTOME)
      Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXA1 transcription factor network, organism-specific biosystem
      FOXA1 transcription factor network
    • Lung fibrosis, organism-specific biosystem (from WikiPathways)
      Lung fibrosis, organism-specific biosystemLung fibrosis pathway linked to events (molecular initiating event, key events and associative events) in a putative Adverse Outcome Pathway for lung fibrosis.
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Pertussis, organism-specific biosystem (from KEGG)
      Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
    • Pertussis, conserved biosystem (from KEGG)
      Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
      Regulation of toll-like receptor signaling pathway, organism-specific biosystem
      Regulation of toll-like receptor signaling pathway
    • Surfactant metabolism, organism-specific biosystem (from REACTOME)
      Surfactant metabolism, organism-specific biosystemThe alveolar region of the lung creates an extensive epithelial surface that mediates the transfer of oxygen and carbon dioxide required for respiration after birth. Type I epithelial cells form the ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ50594, FLJ50597, FLJ51953, FLJ79091, FLJ93678, MGC133169, MGC133366, MGC189714, MGC189761

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipopolysaccharide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    monosaccharide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of phagocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    respiratory gaseous exchange IEA
    Inferred from Electronic Annotation
    more info
     
    surfactant homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    clathrin-coated endocytic vesicle TAS
    Traceable Author Statement
    more info
     
    collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lamellar body TAS
    Traceable Author Statement
    more info
     
    multivesicular body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    rough endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    pulmonary surfactant-associated protein A2
    Names
    35 kDa pulmonary surfactant-associated protein
    alveolar proteinosis protein
    collectin 5
    surfactant, pulmonary-associated protein A2A

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013046.1 RefSeqGene

      Range
      4947..9556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001098668.3NP_001092138.1  pulmonary surfactant-associated protein A2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001092138.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shorter isoform (1). Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC139727, BX248123, CA439927, DC358710, HQ021427
      Consensus CDS
      CCDS41540.1
      UniProtKB/Swiss-Prot
      Q8IWL1
      Related
      ENSP00000361400.2, ENST00000372325.6
      Conserved Domains (2) summary
      cd03591
      Location:136248
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:28100
      Collagen; Collagen triple helix repeat (20 copies)
    2. NM_001320813.1NP_001307742.1  pulmonary surfactant-associated protein A2 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BX248123, CA439927, DC358710
      Consensus CDS
      CCDS41540.1
      UniProtKB/Swiss-Prot
      Q8IWL1
      Conserved Domains (2) summary
      cd03591
      Location:136248
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:28100
      Collagen; Collagen triple helix repeat (20 copies)
    3. NM_001320814.1NP_001307743.1  pulmonary surfactant-associated protein A2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and contains a novel 5' coding region compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BX248123, CA439927
      Conserved Domains (2) summary
      cd03591
      Location:146258
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:38110
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      79555852..79560461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270132.3XP_005270189.1  pulmonary surfactant-associated protein A2 isoform X1

      See identical proteins and their annotated locations for XP_005270189.1

      UniProtKB/Swiss-Prot
      Q8IWL1
      Related
      ENSP00000361402.5, ENST00000372327.9
      Conserved Domains (2) summary
      cd03591
      Location:136248
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:28100
      Collagen; Collagen triple helix repeat (20 copies)
    2. XM_011540125.1XP_011538427.1  pulmonary surfactant-associated protein A2 isoform X1

      See identical proteins and their annotated locations for XP_011538427.1

      UniProtKB/Swiss-Prot
      Q8IWL1
      Conserved Domains (2) summary
      cd03591
      Location:136248
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:28100
      Collagen; Collagen triple helix repeat (20 copies)
    3. XM_005270128.3XP_005270185.1  pulmonary surfactant-associated protein A2 isoform X2

      Conserved Domains (2) summary
      cd03591
      Location:153265
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:45117
      Collagen; Collagen triple helix repeat (20 copies)
    4. XM_011540124.1XP_011538426.1  pulmonary surfactant-associated protein A2 isoform X1

      See identical proteins and their annotated locations for XP_011538426.1

      UniProtKB/Swiss-Prot
      Q8IWL1
      Conserved Domains (2) summary
      cd03591
      Location:136248
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:28100
      Collagen; Collagen triple helix repeat (20 copies)
    5. XM_017016608.1XP_016872097.1  pulmonary surfactant-associated protein A2 isoform X1

      UniProtKB/Swiss-Prot
      Q8IWL1
      Conserved Domains (2) summary
      cd03591
      Location:136248
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:28100
      Collagen; Collagen triple helix repeat (20 copies)
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