LOCUS       NM_032793               2129 bp    mRNA    linear   PRI 27-MAY-2024
DEFINITION  Homo sapiens MFSD2 lysolipid transporter A, lysophospholipid
            (MFSD2A), transcript variant 2, mRNA.
ACCESSION   NM_032793
VERSION     NM_032793.5
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 2129)
  AUTHORS   Origuela,V., Ferrer-Aguilar,P., Gazquez,A., Perez-Cruz,M.,
            Gomez-Roig,M.D., Gomez-Llorente,C. and Larque,E.
  TITLE     Placental MFSD2A expression in fetal growth restriction and
            maternal and fetal DHA status
  JOURNAL   Placenta 150, 31-38 (2024)
   PUBMED   38583303
  REMARK    GeneRIF: Placental MFSD2A expression in fetal growth restriction
            and maternal and fetal DHA status.
REFERENCE   2  (bases 1 to 2129)
  AUTHORS   Yuan,W., Qiu,Z.M., Li,H., Huang,M., Yuan,J.J., Niu,S.L., Chen,Q.,
            Yang,Q.W. and Ouyang,Q.
  TITLE     Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via
            Molecular Dynamics Simulations
  JOURNAL   ACS Chem Neurosci 15 (2), 382-393 (2024)
   PUBMED   38155530
  REMARK    GeneRIF: Investigation of the Binding Interaction of Mfsd2a with
            NEDD4-2 via Molecular Dynamics Simulations.
REFERENCE   3  (bases 1 to 2129)
  AUTHORS   Martinez-Molledo,M., Nji,E. and Reyes,N.
  TITLE     Structural insights into the lysophospholipid brain uptake
            mechanism and its inhibition by syncytin-2
  JOURNAL   Nat Struct Mol Biol 29 (6), 604-612 (2022)
   PUBMED   35710838
  REMARK    GeneRIF: Structural insights into the lysophospholipid brain uptake
            mechanism and its inhibition by syncytin-2.
REFERENCE   4  (bases 1 to 2129)
  AUTHORS   Khuller,K., Yigit,G., Martinez Grijalva,C., Altmuller,J.,
            Thiele,H., Nurnberg,P., Elcioglu,N.H., Yeter,B., Hehr,U., Stein,A.,
            Della Marina,A., Koninger,A., Depienne,C., Kaiser,F.J., Wollnik,B.
            and Kuechler,A.
  TITLE     MFSD2A-associated primary microcephaly - Expanding the clinical and
            mutational spectrum of this ultra-rare disease
  JOURNAL   Eur J Med Genet 64 (10), 104310 (2021)
   PUBMED   34400370
  REMARK    GeneRIF: MFSD2A-associated primary microcephaly - Expanding the
            clinical and mutational spectrum of this ultra-rare disease.
REFERENCE   5  (bases 1 to 2129)
  AUTHORS   Zhang,C.L., Wang,H.L., Li,P.C., Hong,C.D., Chen,A.Q., Qiu,Y.M.,
            Zeng,A.P., Zhou,Y.F., Hu,B. and Li,Y.N.
  TITLE     Mfsd2a overexpression alleviates vascular dysfunction in diabetic
            retinopathy
  JOURNAL   Pharmacol Res 171, 105755 (2021)
   PUBMED   34229049
  REMARK    GeneRIF: Mfsd2a overexpression alleviates vascular dysfunction in
            diabetic retinopathy.
REFERENCE   6  (bases 1 to 2129)
  AUTHORS   Spinola,M., Falvella,F.S., Colombo,F., Sullivan,J.P., Shames,D.S.,
            Girard,L., Spessotto,P., Minna,J.D. and Dragani,T.A.
  TITLE     MFSD2A is a novel lung tumor suppressor gene modulating cell cycle
            and matrix attachment
  JOURNAL   Mol Cancer 9, 62 (2010)
   PUBMED   20236515
  REMARK    GeneRIF: MFSD2A is a novel lung cancer tumor suppressor gene that
            regulates cell cycle progression and matrix attachment.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2129)
  AUTHORS   Angers,M., Uldry,M., Kong,D., Gimble,J.M. and Jetten,A.M.
  TITLE     Mfsd2a encodes a novel major facilitator superfamily
            domain-containing protein highly induced in brown adipose tissue
            during fasting and adaptive thermogenesis
  JOURNAL   Biochem J 416 (3), 347-355 (2008)
   PUBMED   18694395
  REMARK    GeneRIF: Results identify Mfsd2a (major facilitator superfamily
            domain-containing protein 2a) and an additional closely related
            protein Mfsd2b, and suggest that Mfsd2a plays a role in adaptive
            thermogenesis.
REFERENCE   8  (bases 1 to 2129)
  AUTHORS   Esnault,C., Priet,S., Ribet,D., Vernochet,C., Bruls,T.,
            Lavialle,C., Weissenbach,J. and Heidmann,T.
  TITLE     A placenta-specific receptor for the fusogenic, endogenous
            retrovirus-derived, human syncytin-2
  JOURNAL   Proc Natl Acad Sci U S A 105 (45), 17532-17537 (2008)
   PUBMED   18988732
  REMARK    GeneRIF: MFSD2 is a placenta-specific receptor for the fusogenic,
            endogenous retrovirus-derived, human syncytin-2, and plays a role
            in placenta morphogenesis.
REFERENCE   9  (bases 1 to 2129)
  AUTHORS   Spinola,M., Falvella,F.S., Galvan,A., Pignatiello,C., Leoni,V.P.,
            Pastorino,U., Paroni,R., Chen,S., Skaug,V., Haugen,A. and
            Dragani,T.A.
  TITLE     Ethnic differences in frequencies of gene polymorphisms in the
            MYCL1 region and modulation of lung cancer patients' survival
  JOURNAL   Lung Cancer 55 (3), 271-277 (2007)
   PUBMED   17145094
  REMARK    GeneRIF: three additional SNPs in the MFSD2 genes showed ethnic
            differences in allelic frequencies
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2129)
  AUTHORS   Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y.,
            Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y.,
            Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N.
            and Nakagawara,A.
  TITLE     Expression profiling and differential screening between
            hepatoblastomas and the corresponding normal livers: identification
            of high expression of the PLK1 oncogene as a poor-prognostic
            indicator of hepatoblastomas
  JOURNAL   Oncogene 23 (35), 5901-5911 (2004)
   PUBMED   15221005
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP321361.1, AB073383.1 and
            DB376308.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_032793.4.
            
            Summary: The protein encoded by this gene is a transmembrane
            protein and sodium-dependent lysophosphatidylcholine transporter.
            The encoded protein is involved in the establishment of the
            blood-brain barrier and is required for brain growth and function.
            Defects in this gene are a cause of a progressive microcephaly
            syndrome. [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the central coding region, compared to variant 1.
            The encoded isoform (2) is shorter, compared to isoform 1.
            
            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 :: SRR7346977.1272270.1,
                                           SRR3476690.420299.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372811.10/ ENSP00000361898.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 BP321361.1         34-36
            4-2023              AB073383.1         1-2020
            2024-2129           DB376308.1         3-108               c
FEATURES             Location/Qualifiers
     source          1..2129
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..2129
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /note="MFSD2 lysolipid transporter A, lysophospholipid"
                     /db_xref="GeneID:84879"
                     /db_xref="HGNC:HGNC:25897"
                     /db_xref="MIM:614397"
     exon            1..241
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..1741
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /note="isoform 2 is encoded by transcript variant 2; major
                     facilitator superfamily domain-containing protein 2A;
                     sodium-dependent LPC symporter 1; sodium-dependent
                     lysophosphatidylcholine symporter 1; major facilitator
                     superfamily domain containing 2A"
                     /codon_start=1
                     /product="sodium-dependent lysophosphatidylcholine
                     symporter 1 isoform 2"
                     /protein_id="NP_116182.2"
                     /db_xref="CCDS:CCDS446.1"
                     /db_xref="GeneID:84879"
                     /db_xref="HGNC:HGNC:25897"
                     /db_xref="MIM:614397"
                     /translation="MAKGEGAESGSAAGLLPTSILQSTERPAQVKKEPKKKKQQLSVC
                     NKLCYALGGAPYQVTGCALGFFLQIYLLDVAQVGPFSASIILFVGRAWDAITDPLVGL
                     CISKSPWTCLGRLMPWIIFSTPLAVIAYFLIWFVPDFPHGQTYWYLLFYCLFETMVTC
                     FHVPYSALTMFISTEQTERDSATAYRMTVEVLGTVLGTAIQGQIVGQADTPCFQDLNS
                     STVASQSANHTHGTTSHRETQKAYLLAAGVIVCIYIICAVILILGVREQREPYEAQQS
                     EPIAYFRGLRLVMSHGPYIKLITGFLFTSLAFMLVEGNFVLFCTYTLGFRNEFQNLLL
                     AIMLSATLTIPIWQWFLTRFGKKTAVYVGISSAVPFLILVALMESNLIITYAVAVAAG
                     ISVAAAFLLPWSMLPDVIDDFHLKQPHFHGTEPIFFSFYVFFTKFASGVSLGISTLSL
                     DFAGYQTRGCSQPERVKFTLNMLVTMAPIVLILLGLLLFKMYPIDEERRRQNKKALQA
                     LRDEASSSGCSETDSTELASIL"
     exon            242..376
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            377..501
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            502..625
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            626..704
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            705..862
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            863..953
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1075
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1076..1159
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1243
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1356
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..1500
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..1677
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1678..2129
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2112..2117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /note="hexamer: CATAAA"
     polyA_site      2129
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /note="major polyA site"
ORIGIN      
        1 agagtgcgtt cctcgtctgc cagccggctt ggctagcgcg cggcggccgt ggctaaggct
       61 gctacgaagc gagcttggga ggagcagcgg cctgcggggc agaggagcat cccgtctacc
      121 aggtcccaag cggcgtggcc cgcgggtcat ggccaaagga gaaggcgccg agagcggctc
      181 cgcggcgggg ctgctaccca ccagcatcct ccaaagcact gaacgcccgg cccaggtgaa
      241 gaaagaaccg aaaaagaaga aacaacagtt gtctgtttgc aacaagcttt gctatgcact
      301 tgggggagcc ccctaccagg tgacgggctg tgccctgggt ttcttccttc agatctacct
      361 attggatgtg gctcaggtgg gccctttctc tgcctccatc atcctgtttg tgggccgagc
      421 ctgggatgcc atcacagacc ccctggtggg cctctgcatc agcaaatccc cctggacctg
      481 cctgggtcgc cttatgccct ggatcatctt ctccacgccc ctggccgtca ttgcctactt
      541 cctcatctgg ttcgtgcccg acttcccaca cggccagacc tattggtacc tgcttttcta
      601 ttgcctcttt gaaacaatgg tcacgtgttt ccatgttccc tactcggctc tcaccatgtt
      661 catcagcacc gagcagactg agcgggattc tgccaccgcc tatcggatga ctgtggaagt
      721 gctgggcaca gtgctgggca cggcgatcca gggacaaatc gtgggccaag cagacacgcc
      781 ttgtttccag gacctcaata gctctacagt agcttcacaa agtgccaacc atacacatgg
      841 caccacctca cacagggaaa cgcaaaaggc atacctgctg gcagcggggg tcattgtctg
      901 tatctatata atctgtgctg tcatcctgat cctgggcgtg cgggagcaga gagaacccta
      961 tgaagcccag cagtctgagc caatcgccta cttccggggc ctacggctgg tcatgagcca
     1021 cggcccatac atcaaactta ttactggctt cctcttcacc tccttggctt tcatgctggt
     1081 ggaggggaac tttgtcttgt tttgcaccta caccttgggc ttccgcaatg aattccagaa
     1141 tctactcctg gccatcatgc tctcggccac tttaaccatt cccatctggc agtggttctt
     1201 gacccggttt ggcaagaaga cagctgtata tgttgggatc tcatcagcag tgccatttct
     1261 catcttggtg gccctcatgg agagtaacct catcattaca tatgcggtag ctgtggcagc
     1321 tggcatcagt gtggcagctg ccttcttact accctggtcc atgctgcctg atgtcattga
     1381 cgacttccat ctgaagcagc cccacttcca tggaaccgag cccatcttct tctccttcta
     1441 tgtcttcttc accaagtttg cctctggagt gtcactgggc atttctaccc tcagtctgga
     1501 ctttgcaggg taccagaccc gtggctgctc gcagccggaa cgtgtcaagt ttacactgaa
     1561 catgctcgtg accatggctc ccatagttct catcctgctg ggcctgctgc tcttcaaaat
     1621 gtaccccatt gatgaggaga ggcggcggca gaataagaag gccctgcagg cactgaggga
     1681 cgaggccagc agctctggct gctcagaaac agactccaca gagctggcta gcatcctcta
     1741 gggcccgcca cgttgcccga agccaccatg cagaaggcca cagaagggat caggacctgt
     1801 ctgccggctt gctgagcagc tggactgcag gtgctaggaa gggaactgaa gactcaagga
     1861 ggtggcccag gacacttgct gtgctcactg tggggccggc tgctctgtgg cctcctgcct
     1921 cccctctgcc tgcctgtggg gccaagccct ggggctgcca ctgtgaatat gccaaggact
     1981 gatcgggcct agcccggaac actaatgtag aaaccttttt ttttacagag cctaattaat
     2041 aacttaatga ctgtgtacat agcaatgtgt gtgtatgtat atgtctgtga gctattaatg
     2101 ttattaattt tcataaaagc tggaaagca
//
