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    SFTPA2 surfactant protein A2 [ Homo sapiens (human) ]

    Gene ID: 729238, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SFTPA2provided by HGNC
    Official Full Name
    surfactant protein A2provided by HGNC
    Primary source
    HGNC:HGNC:10799
    See related
    Ensembl:ENSG00000185303 MIM:178642; AllianceGenome:HGNC:10799
    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
    ILD2; 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
    all
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    Genomic context

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    Location:
    10q22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (79555852..79560407, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (80424986..80429541, complement)
    105.20220307 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 H3K4me1 hESC enhancer GRCh37_chr10:81283336-81283836 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:81288830-81289000 Neighboring gene ribosomal protein S12 pseudogene 18 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:81316545-81317045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81321844-81322357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81343957-81344456 Neighboring gene mannose-binding lectin family member 3, pseudogene Neighboring gene surfactant protein A3, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Small Peptide Derivatives Within the Carbohydrate Recognition Domain of SP-A2 Modulate Asthma Outcomes in Mouse Models and Human Cells. Francisco D, et al. Front Immunol, 2022. PMID 35874703, Free PMC Article
    2. Identification of a Missense Mutation in the Surfactant Protein A2 Gene in a Chinese Family with Interstitial Lung Disease. Liu L, et al. DNA Cell Biol, 2021 Jan. PMID 33181027
    3. Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis. Liu L, et al. Mol Genet Genomic Med, 2020 Sep. PMID 32602668, Free PMC Article
    4. Donor surfactant protein A2 polymorphism and lung transplant survival. D'Ovidio F, et al. Eur Respir J, 2020 Mar. PMID 31831583
    5. SFTPA2 Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia. van Moorsel CH, et al. Am J Respir Crit Care Med, 2015 Nov 15. PMID 26568241

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Small Peptide Derivatives Within the Carbohydrate Recognition Domain of SP-A2 Modulate Asthma Outcomes in Mouse Models and Human Cells.
      Title: Small Peptide Derivatives Within the Carbohydrate Recognition Domain of SP-A2 Modulate Asthma Outcomes in Mouse Models and Human Cells.
    2. Differential Regulation of Human Surfactant Protein A Genes, SFTPA1 and SFTPA2, and Their Corresponding Variants.
      Title: Differential Regulation of Human Surfactant Protein A Genes, SFTPA1 and SFTPA2, and Their Corresponding Variants.
    3. Human Surfactant Protein SP-A1 and SP-A2 Variants Differentially Affect the Alveolar Microenvironment, Surfactant Structure, Regulation and Function of the Alveolar Macrophage, and Animal and Human Survival Under Various Conditions.
      Title: Human Surfactant Protein SP-A1 and SP-A2 Variants Differentially Affect the Alveolar Microenvironment, Surfactant Structure, Regulation and Function of the Alveolar Macrophage, and Animal and Human Survival Under Various Conditions.
    4. Clinical-pathological and molecular characterization of long-term survivors with advanced non-small cell lung cancer.
      Title: Clinical-pathological and molecular characterization of long-term survivors with advanced non-small cell lung cancer.
    5. Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
      Title: Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
    6. Donor surfactant protein A2 polymorphism and lung transplant survival.
      Title: Donor surfactant protein A2 polymorphism and lung transplant survival.
    7. Differences in the alveolar macrophage toponome in humanized SP-A1 and SP-A2 transgenic mice.
      Title: Differences in the alveolar macrophage toponome in humanized SP-A1 and SP-A2 transgenic mice.
    8. Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis.
      Title: Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis.
    9. Identification of a Missense Mutation in the Surfactant Protein A2 Gene in a Chinese Family with Interstitial Lung Disease.
      Title: Identification of a Missense Mutation in the Surfactant Protein A2 Gene in a Chinese Family with Interstitial Lung Disease.
    10. SP-A1 6A4 and SP-A2 1A5 genetic variants may influence the susceptibility to respiratory distress syndrome in late-preterm infants, independently of the effect of other perinatal factors.
      Title: Surfactant Protein A and B Gene Polymorphisms and Risk of Respiratory Distress Syndrome in Late-Preterm Neonates.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Interstitial lung disease 2
    MedGen: C5561926 OMIM: 178500 GeneReviews: Pulmonary Fibrosis Predisposition Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    located_in lamellar body TAS
    Traceable Author Statement
    more info
    		  
    is_active_in multivesicular body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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)

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    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_001098668.4 → NP_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
      A4QPA7, B2RXI6, B2RXK9, C9J9I7, E3VLC6, E3VLC7, E3VLC8, E3VLC9, P07714, Q14DV3, Q5RIR8, Q5RIR9, Q8IWL1
      UniProtKB/TrEMBL
      E3VLD0
      Related
      ENSP00000361400.2, ENST00000372325.7
      Conserved Domains (2) summary
      cd03591
      Location:136 → 248
      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:28 → 100
      Collagen; Collagen triple helix repeat (20 copies)

    2. NM_001320813.2 → NP_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
      A4QPA7, B2RXI6, B2RXK9, C9J9I7, E3VLC6, E3VLC7, E3VLC8, E3VLC9, P07714, Q14DV3, Q5RIR8, Q5RIR9, Q8IWL1
      UniProtKB/TrEMBL
      E3VLD0
      Conserved Domains (2) summary
      cd03591
      Location:136 → 248
      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:28 → 100
      Collagen; Collagen triple helix repeat (20 copies)

    3. NM_001320814.1 → NP_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
      UniProtKB/TrEMBL
      E3VLD0
      Conserved Domains (2) summary
      cd03591
      Location:146 → 258
      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:38 → 110
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      79555852..79560407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270132.4 → XP_005270189.1  pulmonary surfactant-associated protein A2 isoform X4

      See identical proteins and their annotated locations for XP_005270189.1

      UniProtKB/Swiss-Prot
      A4QPA7, B2RXI6, B2RXK9, C9J9I7, E3VLC6, E3VLC7, E3VLC8, E3VLC9, P07714, Q14DV3, Q5RIR8, Q5RIR9, Q8IWL1
      UniProtKB/TrEMBL
      E3VLD0
      Related
      ENSP00000361402.5, ENST00000372327.9
      Conserved Domains (2) summary
      cd03591
      Location:136 → 248
      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:28 → 100
      Collagen; Collagen triple helix repeat (20 copies)

    2. XM_005270128.4 → XP_005270185.1  pulmonary surfactant-associated protein A2 isoform X2

      UniProtKB/TrEMBL
      E3VLD0
      Conserved Domains (2) summary
      cd03591
      Location:153 → 265
      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:45 → 117
      Collagen; Collagen triple helix repeat (20 copies)

    3. XM_017016608.2 → XP_016872097.2  pulmonary surfactant-associated protein A2 isoform X1

    4. XM_047425705.1 → XP_047281661.1  pulmonary surfactant-associated protein A2 isoform X3

    5. XM_011540125.2 → XP_011538427.1  pulmonary surfactant-associated protein A2 isoform X4

      See identical proteins and their annotated locations for XP_011538427.1

      UniProtKB/Swiss-Prot
      A4QPA7, B2RXI6, B2RXK9, C9J9I7, E3VLC6, E3VLC7, E3VLC8, E3VLC9, P07714, Q14DV3, Q5RIR8, Q5RIR9, Q8IWL1
      UniProtKB/TrEMBL
      E3VLD0
      Conserved Domains (2) summary
      cd03591
      Location:136 → 248
      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:28 → 100
      Collagen; Collagen triple helix repeat (20 copies)

    6. XM_047425706.1 → XP_047281662.1  pulmonary surfactant-associated protein A2 isoform X4

      UniProtKB/Swiss-Prot
      A4QPA7, B2RXI6, B2RXK9, C9J9I7, E3VLC6, E3VLC7, E3VLC8, E3VLC9, P07714, Q14DV3, Q5RIR8, Q5RIR9, Q8IWL1

    7. XM_047425704.1 → XP_047281660.1  pulmonary surfactant-associated protein A2 isoform X2

    8. XM_047425703.1 → XP_047281659.1  pulmonary surfactant-associated protein A2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      80424986..80429541 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366673.1 → XP_054222648.1  pulmonary surfactant-associated protein A2 isoform X4

    2. XM_054366671.1 → XP_054222646.1  pulmonary surfactant-associated protein A2 isoform X2

    3. XM_054366670.1 → XP_054222645.1  pulmonary surfactant-associated protein A2 isoform X1

    4. XM_054366672.1 → XP_054222647.1  pulmonary surfactant-associated protein A2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWL1.2 GenPept UniProtKB/Swiss-Prot:Q8IWL1

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