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SFTPA2 surfactant protein A2 [ Homo sapiens (human) ]

Gene ID: 729238, updated on 16-Aug-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
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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)

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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_001098668.4NP_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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