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SFTPA2 surfactant protein A2 [ Homo sapiens (human) ]

Gene ID: 729238, updated on 27-Nov-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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See SFTPA2 in Genome Data Viewer
Location:
10q22.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (79555852..79560407, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (80424986..80429541, complement)
RS_2024_09 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. 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
  2. The untranslated exon B of human surfactant protein A2 mRNAs is an enhancer for transcription and translation. Silveyra P, et al. Am J Physiol Lung Cell Mol Physiol, 2011 Nov. PMID 21840962, Free PMC Article
  3. Human surfactant protein A2 gene mutations impair dimmer/trimer assembly leading to deficiency in protein sialylation and secretion. Song Y, et al. PLoS One, 2012. PMID 23056344, Free PMC Article
  4. Allelic mRNA expression imbalance in C-type lectins reveals a frequent regulatory SNP in the human surfactant protein A (SP-A) gene. Azad AK, et al. Genes Immun, 2013 Mar. PMID 23328842, Free PMC Article
  5. Exon B of human surfactant protein A2 mRNA, alone or within its surrounding sequences, interacts with 14-3-3; role of cis-elements and secondary structure. Noutsios GT, et al. Am J Physiol Lung Cell Mol Physiol, 2013 Jun 1. PMID 23525782, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of surfactant protein A2 with acute respiratory failure in children.
    Title: Association of surfactant protein A2 with acute respiratory failure in children.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Donor surfactant protein A2 polymorphism and lung transplant survival.
    Title: Donor surfactant protein A2 polymorphism and lung transplant survival.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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_2024_08

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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