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    SFTPA2 surfactant protein A2 [ Homo sapiens (human) ]

    Gene ID: 729238, updated on 11-Jul-2021

    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
    NEW
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    Genomic context

    See SFTPA2 in Genome Data Viewer
    Location:
    10q22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (79555852..79560459, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81315608..81320163, 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 Functions

    What's a GeneRIF?

    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
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle TAS
    Traceable Author Statement
    more info
     
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lamellar body TAS
    Traceable Author Statement
    more info
     
    is_active_in multivesicular body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in 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)

    NEW Try the new Transcript table

    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
      5001..9556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001098668.4NP_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, HQ021427
      Consensus CDS
      CCDS41540.1
      UniProtKB/Swiss-Prot
      Q8IWL1
      Related
      ENSP00000361400.2, ENST00000372325.7
      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_001320813.2NP_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
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      79555852..79560459 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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