LOCUS       NM_001098668            2201 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens surfactant protein A2 (SFTPA2), transcript variant 1,
            mRNA.
ACCESSION   NM_001098668 XM_005270130
VERSION     NM_001098668.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2201)
  AUTHORS   Emery,L., Kane,E., Anderson-Fears,K., Liu,D., Floros,J. and
            Gandhi,C.K.
  TITLE     Association of surfactant protein A2 with acute respiratory failure
            in children
  JOURNAL   Pediatr Int 65 (1), e15672 (2023)
   PUBMED   37888536
  REMARK    GeneRIF: Association of surfactant protein A2 with acute
            respiratory failure in children.
REFERENCE   2  (bases 1 to 2201)
  AUTHORS   Francisco,D., Wang,Y., Marshall,C., Conway,M., Addison,K.J.,
            Billheimer,D., Kimura,H., Numata,M., Chu,H.W., Voelker,D.R.,
            Kraft,M. and Ledford,J.G.
  TITLE     Small Peptide Derivatives Within the Carbohydrate Recognition
            Domain of SP-A2 Modulate Asthma Outcomes in Mouse Models and Human
            Cells
  JOURNAL   Front Immunol 13, 900022 (2022)
   PUBMED   35874703
  REMARK    GeneRIF: Small Peptide Derivatives Within the Carbohydrate
            Recognition Domain of SP-A2 Modulate Asthma Outcomes in Mouse
            Models and Human Cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2201)
  AUTHORS   Floros,J. and Tsotakos,N.
  TITLE     Differential Regulation of Human Surfactant Protein A Genes, SFTPA1
            and SFTPA2, and Their Corresponding Variants
  JOURNAL   Front Immunol 12, 766719 (2021)
   PUBMED   34917085
  REMARK    GeneRIF: Differential Regulation of Human Surfactant Protein A
            Genes, SFTPA1 and SFTPA2, and Their Corresponding Variants.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2201)
  AUTHORS   Floros,J., Thorenoor,N., Tsotakos,N. and Phelps,D.S.
  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
  JOURNAL   Front Immunol 12, 681639 (2021)
   PUBMED   34484180
  REMARK    GeneRIF: 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.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2201)
  AUTHORS   Liu,L., Liu,Y.J., Guo,T. and Luo,H.
  TITLE     Identification of a Missense Mutation in the Surfactant Protein A2
            Gene in a Chinese Family with Interstitial Lung Disease
  JOURNAL   DNA Cell Biol 40 (1), 126-131 (2021)
   PUBMED   33181027
  REMARK    GeneRIF: Identification of a Missense Mutation in the Surfactant
            Protein A2 Gene in a Chinese Family with Interstitial Lung Disease.
REFERENCE   6  (bases 1 to 2201)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2201)
  AUTHORS   Garcia,C.K. and Talbert,J.L.
  TITLE     Pulmonary Fibrosis Predisposition Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301408
REFERENCE   8  (bases 1 to 2201)
  AUTHORS   Katyal,S.L., Singh,G. and Locker,J.
  TITLE     Characterization of a second human pulmonary surfactant-associated
            protein SP-A gene
  JOURNAL   Am J Respir Cell Mol Biol 6 (4), 446-452 (1992)
   PUBMED   1372511
REFERENCE   9  (bases 1 to 2201)
  AUTHORS   Haagsman,H.P., White,R.T., Schilling,J., Lau,K., Benson,B.J.,
            Golden,J., Hawgood,S. and Clements,J.A.
  TITLE     Studies of the structure of lung surfactant protein SP-A
  JOURNAL   Am J Physiol 257 (6 Pt 1), L421-L429 (1989)
   PUBMED   2610270
REFERENCE   10 (bases 1 to 2201)
  AUTHORS   Floros,J., Steinbrink,R., Jacobs,K., Phelps,D., Kriz,R., Recny,M.,
            Sultzman,L., Jones,S., Taeusch,H.W., Frank,H.A. et al.
  TITLE     Isolation and characterization of cDNA clones for the 35-kDa
            pulmonary surfactant-associated protein
  JOURNAL   J Biol Chem 261 (19), 9029-9033 (1986)
   PUBMED   3755136
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HQ021427.1, BC139727.1,
            BX248123.5 and CA439927.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001098668.3.
            
            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].
            
            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).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HQ021429.2, HQ021427.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372325.7/ ENSP00000361400.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-122               HQ021427.1         1-122
            123-1624            BC139727.1         49-1550
            1625-1823           BX248123.5         40525-40723         c
            1824-2201           CA439927.1         18-395              c
FEATURES             Location/Qualifiers
     source          1..2201
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.3"
     gene            1..2201
                     /gene="SFTPA2"
                     /gene_synonym="COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1;
                     SFTPA2B; SP-2A; SP-A; SPA2; SPAII"
                     /note="surfactant protein A2"
                     /db_xref="GeneID:729238"
                     /db_xref="HGNC:HGNC:10799"
                     /db_xref="MIM:178642"
     exon            1..44
                     /gene="SFTPA2"
                     /gene_synonym="COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1;
                     SFTPA2B; SP-2A; SP-A; SPA2; SPAII"
                     /inference="alignment:Splign:2.1.0"
     exon            45..74
                     /gene="SFTPA2"
                     /gene_synonym="COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1;
                     SFTPA2B; SP-2A; SP-A; SPA2; SPAII"
                     /inference="alignment:Splign:2.1.0"
     exon            75..269
                     /gene="SFTPA2"
                     /gene_synonym="COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1;
                     SFTPA2B; SP-2A; SP-A; SPA2; SPAII"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..844
                     /gene="SFTPA2"
                     /gene_synonym="COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1;
                     SFTPA2B; SP-2A; SP-A; SPA2; SPAII"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; surfactant, pulmonary-associated protein A2A;
                     pulmonary surfactant-associated protein A2; collectin 5;
                     alveolar proteinosis protein; 35 kDa pulmonary
                     surfactant-associated protein"
                     /codon_start=1
                     /product="pulmonary surfactant-associated protein A2
                     isoform 1 precursor"
                     /protein_id="NP_001092138.1"
                     /db_xref="CCDS:CCDS41540.1"
                     /db_xref="GeneID:729238"
                     /db_xref="HGNC:HGNC:10799"
                     /db_xref="MIM:178642"
                     /translation="MWLCPLALTLILMAASGAACEVKDVCVGSPGIPGTPGSHGLPGR
                     DGRDGVKGDPGPPGPMGPPGETPCPPGNNGLPGAPGVPGERGEKGEAGERGPPGLPAH
                     LDEELQATLHDFRHQILQTRGALSLQGSIMTVGEKVFSSNGQSITFDAIQEACARAGG
                     RIAVPRNPEENEAIASFVKKYNTYAYVGLTEGPSPGDFRYSDGTPVNYTNWYRGEPAG
                     RGKEQCVEMYTDGQWNDRNCLYSRLTICEF"
     exon            270..389
                     /gene="SFTPA2"
                     /gene_synonym="COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1;
                     SFTPA2B; SP-2A; SP-A; SPA2; SPAII"
                     /inference="alignment:Splign:2.1.0"
     exon            390..467
                     /gene="SFTPA2"
                     /gene_synonym="COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1;
                     SFTPA2B; SP-2A; SP-A; SPA2; SPAII"
                     /inference="alignment:Splign:2.1.0"
     exon            468..2201
                     /gene="SFTPA2"
                     /gene_synonym="COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1;
                     SFTPA2B; SP-2A; SP-A; SPA2; SPAII"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2147..2152
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFTPA2"
                     /gene_synonym="COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1;
                     SFTPA2B; SP-2A; SP-A; SPA2; SPAII"
                     /note="hexamer: AATAAA"
     polyA_site      2168
                     /gene="SFTPA2"
                     /gene_synonym="COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1;
                     SFTPA2B; SP-2A; SP-A; SPA2; SPAII"
                     /note="major polyA site"
ORIGIN      
        1 aacttggagg cagagaccca agcagctgga ggctctgtgt gtgggtcgct gatttcttgg
       61 agcctgaaaa gaaggagcag cgactggacc cagagccatg tggctgtgcc ctctggccct
      121 caccctcatc ttgatggcag cctctggtgc tgcgtgcgaa gtgaaggacg tttgtgttgg
      181 aagccctggt atccccggca ctcctggatc ccacggcctg ccaggcaggg acgggagaga
      241 tggtgtcaaa ggagaccctg gccctccagg ccccatgggt ccgcctggag aaacaccatg
      301 tcctcctggg aataatgggc tgcctggagc ccctggtgtc cctggagagc gtggagagaa
      361 gggggaggct ggcgagagag gccctccagg gcttccagct catctagatg aggagctcca
      421 agccacactc cacgacttca gacatcaaat cctgcagaca aggggagccc tcagtctgca
      481 gggctccata atgacagtag gagagaaggt cttctccagc aatgggcagt ccatcacttt
      541 tgatgccatt caggaggcat gtgccagagc aggcggccgc attgctgtcc caaggaatcc
      601 agaggaaaat gaggccattg caagcttcgt gaagaagtac aacacatatg cctatgtagg
      661 cctgactgag ggtcccagcc ctggagactt ccgctactca gatgggaccc ctgtaaacta
      721 caccaactgg taccgagggg agcctgcagg tcggggaaaa gagcagtgtg tggagatgta
      781 cacagatggg cagtggaatg acaggaactg cctgtactcc cgactgacca tctgtgagtt
      841 ctgagaggca tttaggccat gggacaggga ggatcctgtc tggccttcag tttccatccc
      901 caggatccac ttggtctgtg agatgctaga actccctttc aacagaattc acttgtggct
      961 attagagctg gaggcaccct tagccacttc attcccctga tgggccctga ctcttcccca
     1021 taatcactga ccagccttga cactcccctt gcaaaccatc ccagcactgc accccaggca
     1081 gccactccta gccttggcct ttggcatgag atggaggcct ccttattccc catctggtcc
     1141 agttccttca cttacagatg gcagcagtga ggccttgggg tagaaggatc ctccaaagtc
     1201 acacagagtg cctgcctcct ggtcccctca gctctgcctc tgcagcccac tgcctgccca
     1261 gtgccatcag gatgagcagt accggccaag cataatgaca gagagaggca gatttcaggg
     1321 aagccctgac tgtgtggagc taaggacaca gtggagattc tctggcactc tgaggtctct
     1381 gtggcaggcc tggtcaggct ctccaggtgg tcagagggcc cagtggtgcc ccagcacggt
     1441 ggtgcccaag ccaaccctgt gactgacatg tacgattcac tcctttgagt ctttggatgc
     1501 caactcagcc ccctgacctg gaggcagccg gccaaggcct ctagggaaga gccccccact
     1561 gcagacatga cccgagtaac tttctgctga tgaacaaatc tgcaccccac ttcagacctc
     1621 ggtgggcatt cacaccaccc cccatgccac cggctccact ttcccctttt attaatacat
     1681 tcacccagat aatcattaaa attaacatgt gccaggtctt aggatgtgtc ttggggtggg
     1741 cacagtaccc ggtgactctt ggggatattt atttattttc cctgagccta tatcttcatc
     1801 tgtgaaatgg ggataaaaat acttgttgct gtcacaatta ttaccatctc tccagctagc
     1861 aaaattacta ccagagccgt tactacacac aaaggctatt gaccgagcac ataccatgtg
     1921 ccacacacct tgacaaaatc ttttaataca gtttattatg tactattcaa tctttacaca
     1981 atgtcacggg accagtattg tttacccaat tttttataag gacactgaag cttagaggag
     2041 tgaaatgttt tgagtgttat ttcagagagc aaatggcaaa gactggatcc aaacccatct
     2101 tcctggacct gaagttcatg ctcccagcca ccccacccct gagctgaata aagatgattt
     2161 aagcataata aatcgttagt gtgttcacat gagtttccat a
//
