LOCUS       NM_020428               3374 bp    mRNA    linear   PRI 28-AUG-2024
DEFINITION  Homo sapiens solute carrier family 44 member 2 (CTL2 blood group)
            (SLC44A2), transcript variant 1, mRNA.
ACCESSION   NM_020428
VERSION     NM_020428.4
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 3374)
  AUTHORS   Song,T., Zhao,S., Luo,S., Chen,C., Liu,X., Wu,X., Sun,Z., Cao,J.,
            Wang,Z., Wang,Y., Yu,B., Zhang,Z., Du,X., Li,X., Han,Z., Chen,H.,
            Chen,F., Wang,L., Wang,H., Sun,K., Han,Y., Xie,L. and Ji,Y.
  TITLE     SLC44A2 regulates vascular smooth muscle cell phenotypic switching
            and aortic aneurysm
  JOURNAL   J Clin Invest 134 (16), e173690 (2024)
   PUBMED   38916960
  REMARK    GeneRIF: SLC44A2 regulates vascular smooth muscle cell phenotypic
            switching and aortic aneurysm.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3374)
  AUTHORS   Koehl,B., Vrignaud,C., Mikdar,M., Nair,T.S., Yang,L., Landry,S.,
            Laiguillon,G., Giroux-Lathuile,C., Anselme-Martin,S., El Kenz,H.,
            Hermine,O., Mohandas,N., Cartron,J.P., Colin,Y., Detante,O.,
            Marlu,R., Le Van Kim,C., Carey,T.E., Azouzi,S. and Peyrard,T.
  TITLE     Lack of the human choline transporter-like protein SLC44A2 causes
            hearing impairment and a rare red blood phenotype
  JOURNAL   EMBO Mol Med 15 (3), e16320 (2023)
   PUBMED   36695047
  REMARK    GeneRIF: Lack of the human choline transporter-like protein SLC44A2
            causes hearing impairment and a rare red blood phenotype.
REFERENCE   3  (bases 1 to 3374)
  AUTHORS   Zirka,G., Robert,P., Tilburg,J., Tishkova,V., Maracle,C.X.,
            Legendre,P., van Vlijmen,B.J.M., Alessi,M.C., Lenting,P.J.,
            Morange,P.E. and Thomas,G.M.
  TITLE     Impaired adhesion of neutrophils expressing Slc44a2/HNA-3b to VWF
            protects against NETosis under venous shear rates
  JOURNAL   Blood 137 (16), 2256-2266 (2021)
   PUBMED   33556175
  REMARK    GeneRIF: Impaired adhesion of neutrophils expressing Slc44a2/HNA-3b
            to VWF protects against NETosis under venous shear rates.
REFERENCE   4  (bases 1 to 3374)
  AUTHORS   Fujita,Y., Nagakura,T., Uchino,H., Inazu,M. and Yamanaka,T.
  TITLE     Functional Expression of Choline Transporters in Human Neural Stem
            Cells and Its Link to Cell Proliferation, Cell Viability, and
            Neurite Outgrowth
  JOURNAL   Cells 10 (2), 453 (2021)
   PUBMED   33672580
  REMARK    GeneRIF: Functional Expression of Choline Transporters in Human
            Neural Stem Cells and Its Link to Cell Proliferation, Cell
            Viability, and Neurite Outgrowth.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3374)
  AUTHORS   Taylor,A., Grapentine,S., Ichhpuniani,J. and Bakovic,M.
  TITLE     Choline transporter-like proteins 1 and 2 are newly identified
            plasma membrane and mitochondrial ethanolamine transporters
  JOURNAL   J Biol Chem 296, 100604 (2021)
   PUBMED   33789160
  REMARK    GeneRIF: Choline transporter-like proteins 1 and 2 are newly
            identified plasma membrane and mitochondrial ethanolamine
            transporters.
REFERENCE   6  (bases 1 to 3374)
  AUTHORS   Kommareddi,P.K., Nair,T.S., Raphael,Y., Telian,S.A., Kim,A.H.,
            Arts,H.A., El-Kashlan,H.K. and Carey,T.E.
  TITLE     Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the
            inner ear
  JOURNAL   J Assoc Res Otolaryngol 8 (4), 435-446 (2007)
   PUBMED   17926100
  REMARK    GeneRIF: CTL2 is more widely distributed than previously described,
            and its prominent expression on cells facing the scala media
            suggests a possible role in homeostasis.
REFERENCE   7  (bases 1 to 3374)
  AUTHORS   Schroder,B., Wrocklage,C., Pan,C., Jager,R., Kosters,B.,
            Schafer,H., Elsasser,H.P., Mann,M. and Hasilik,A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   8  (bases 1 to 3374)
  AUTHORS   Traiffort,E., Ruat,M., O'Regan,S. and Meunier,F.M.
  TITLE     Molecular characterization of the family of choline
            transporter-like proteins and their splice variants
  JOURNAL   J Neurochem 92 (5), 1116-1125 (2005)
   PUBMED   15715662
REFERENCE   9  (bases 1 to 3374)
  AUTHORS   Nair,T.S., Kozma,K.E., Hoefling,N.L., Kommareddi,P.K., Ueda,Y.,
            Gong,T.W., Lomax,M.I., Lansford,C.D., Telian,S.A., Satar,B.,
            Arts,H.A., El-Kashlan,H.K., Berryhill,W.E., Raphael,Y. and
            Carey,T.E.
  TITLE     Identification and characterization of choline transporter-like
            protein 2, an inner ear glycoprotein of 68 and 72 kDa that is the
            target of antibody-induced hearing loss
  JOURNAL   J Neurosci 24 (7), 1772-1779 (2004)
   PUBMED   14973250
REFERENCE   10 (bases 1 to 3374)
  AUTHORS   O'Regan,S., Traiffort,E., Ruat,M., Cha,N., Compaore,D. and
            Meunier,F.M.
  TITLE     An electric lobe suppressor for a yeast choline transport mutation
            belongs to a new family of transporter-like proteins
  JOURNAL   Proc Natl Acad Sci U S A 97 (4), 1835-1840 (2000)
   PUBMED   10677542
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA749803.1, DA673268.1, BC040556.1 and AC011475.6.
            
            On Nov 23, 2018 this sequence version replaced NM_020428.3.
            
            Transcript Variant: This variant encodes 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 :: BC042692.1, FN668568.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335757.10/ ENSP00000336888.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-466               DA749803.1         59-524
            467-972             DA673268.1         69-574
            973-2164            BC040556.1         973-2164
            2165-3374           AC011475.6         83369-84578         c
FEATURES             Location/Qualifiers
     source          1..3374
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..3374
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /note="solute carrier family 44 member 2 (CTL2 blood
                     group)"
                     /db_xref="GeneID:57153"
                     /db_xref="HGNC:HGNC:17292"
                     /db_xref="MIM:606106"
     exon            1..118
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..2202
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /note="isoform 1 is encoded by transcript variant 1;
                     choline transporter-like protein 2; solute carrier family
                     44 (choline transporter), member 2; testicular tissue
                     protein Li 47"
                     /codon_start=1
                     /product="choline transporter-like protein 2 isoform 1"
                     /protein_id="NP_065161.3"
                     /db_xref="CCDS:CCDS12245.1"
                     /db_xref="GeneID:57153"
                     /db_xref="HGNC:HGNC:17292"
                     /db_xref="MIM:606106"
                     /translation="MGDERPHYYGKHGTPQKYDPTFKGPIYNRGCTDIICCVFLLLAI
                     VGYVAVGIIAWTHGDPRKVIYPTDSRGEFCGQKGTKNENKPYLFYFNIVKCASPLVLL
                     EFQCPTPQICVEKCPDRYLTYLNARSSRDFEYYKQFCVPGFKNNKGVAEVLQDGDCPA
                     VLIPSKPLARRCFPAIHAYKGVLMVGNETTYEDGHGSRKNITDLVEGAKKANGVLEAR
                     QLAMRIFEDYTVSWYWIIIGLVIAMAMSLLFIILLRFLAGIMVWVMIIMVILVLGYGI
                     FHCYMEYSRLRGEAGSDVSLVDLGFQTDFRVYLHLRQTWLAFMIILSILEVIIILLLI
                     FLRKRILIAIALIKEASRAVGYVMCSLLYPLVTFFLLCLCIAYWASTAVFLSTSNEAV
                     YKIFDDSPCPFTAKTCNPETFPSSNESRQCPNARCQFAFYGGESGYHRALLGLQIFNA
                     FMFFWLANFVLALGQVTLAGAFASYYWALRKPDDLPAFPLFSAFGRALRYHTGSLAFG
                     ALILAIVQIIRVILEYLDQRLKAAENKFAKCLMTCLKCCFWCLEKFIKFLNRNAYIMI
                     AIYGTNFCTSARNAFFLLMRNIIRVAVLDKVTDFLFLLGKLLIVGSVGILAFFFFTHR
                     IRIVQDTAPPLNYYWVPILTVIVGSYLIAHGFFSVYGMCVDTLFLCFLEDLERNDGSA
                     ERPYFMSSTLKKLLNKTNKKAAES"
     exon            119..167
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            168..241
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            242..326
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            327..411
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            412..522
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            523..583
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            584..707
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            708..791
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            792..904
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1036
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1136
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            1137..1229
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1314
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..1577
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            1578..1672
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            1673..1776
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            1777..1850
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            1851..1921
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            1922..2010
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            2011..2095
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     exon            2096..3374
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2708..2713
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /note="hexamer: ATTAAA"
     polyA_site      2729
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /note="major polyA site"
     regulatory      3351..3356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /note="hexamer: AATAAA"
     polyA_site      3374
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /note="major polyA site"
ORIGIN      
        1 agtgcctccc tccagactcg ggagggtcga gggggcgcgg gagagagcgc gggcggccgc
       61 cggggctggt cgcctgcagg gatgggggac gagcggcccc actactacgg gaaacacgga
      121 acgccacaga agtatgatcc cactttcaaa ggacccattt acaatagggg ctgcacggat
      181 atcatatgct gtgtgttcct gctcctggcc attgtgggct acgtggctgt aggcatcata
      241 gcctggactc atggagaccc tcgaaaggtg atctacccca ctgacagccg gggcgagttc
      301 tgcgggcaga agggcacaaa aaacgagaac aaaccctatc tgttttattt caacattgtg
      361 aaatgtgcca gccccctggt tctgctggaa ttccaatgtc ccactcccca gatctgcgtg
      421 gaaaaatgcc ccgaccgcta cctcacgtac ctgaatgctc gcagctcccg ggactttgag
      481 tactataagc agttctgtgt tcctggcttc aagaacaata aaggagtggc tgaggtgctt
      541 caagatggtg actgccctgc tgtcctcatc cccagcaaac ccttggcccg gagatgcttc
      601 cccgctatcc acgcctacaa gggtgtcctg atggtgggca atgagacgac ctatgaggat
      661 gggcatggct cccggaaaaa catcacagac ctggtggagg gcgccaagaa agccaatgga
      721 gtcctagagg cgcggcaact cgccatgcgc atatttgaag attacaccgt ctcttggtac
      781 tggattatca taggcctggt cattgccatg gcgatgagcc tcctgttcat catcctgctt
      841 cgcttcctgg ctggtattat ggtctgggtg atgatcatca tggtgattct ggtgctgggc
      901 tacggaatat ttcactgcta catggagtac tcccgactgc gtggtgaggc cggctctgat
      961 gtctctttgg tggacctcgg ctttcagacg gatttccggg tgtacctgca cttacggcag
     1021 acctggttgg cctttatgat cattctgagt atccttgaag tcattatcat cttgctgctc
     1081 atctttctcc ggaagagaat tctcatcgcg attgcactca tcaaagaagc cagcagggct
     1141 gtgggatacg tcatgtgctc cttgctctac ccactggtca ccttcttctt gctgtgcctc
     1201 tgcatcgcct actgggccag cactgctgtc ttcctgtcca cttccaacga agcggtctat
     1261 aagatctttg atgacagccc ctgcccattt actgcgaaaa cctgcaaccc agagaccttc
     1321 ccctcctcca atgagtcccg ccaatgcccc aatgcccgtt gccagttcgc cttctacggt
     1381 ggtgagtcgg gctaccaccg ggccctgctg ggcctgcaga tcttcaatgc cttcatgttc
     1441 ttctggttgg ccaacttcgt gctggcgctg ggccaggtca cgctggccgg ggcctttgcc
     1501 tcctactact gggccctgcg caagccggac gacctgccgg ccttcccgct cttctctgcc
     1561 tttggccggg cgctcaggta ccacacaggc tccctggcct ttggcgcgct catcctggcc
     1621 attgtgcaga tcatccgtgt gatactcgag tacctggatc agcggctgaa agctgcagag
     1681 aacaagtttg ccaagtgcct catgacctgt ctcaaatgct gcttctggtg cctggagaag
     1741 ttcatcaaat tccttaatag gaatgcctac atcatgattg ccatctacgg caccaatttc
     1801 tgcacctcgg ccaggaatgc cttcttcctg ctcatgagaa acatcatcag agtggctgtc
     1861 ctggataaag ttactgactt cctcttcctg ttgggcaaac ttctgatcgt tggtagtgtg
     1921 gggatcctgg ctttcttctt cttcacccac cgtatcagga tcgtgcagga tacagcacca
     1981 cccctcaatt attactgggt tcctatactg acggtgatcg ttggctccta cttgattgca
     2041 cacggtttct tcagcgtcta tggcatgtgt gtggacacgc tgttcctctg cttcttggag
     2101 gacctggaga ggaatgacgg ctcggccgag aggccttact tcatgtcttc caccctcaag
     2161 aaactcttga acaagaccaa caagaaggca gcggagtcct gaaggccccg tgctccccac
     2221 ctctcaagga gtctcatgcc gcagggtgct cagtagctgg gtctgttccc ccagcccctt
     2281 gggctcacct gaagtcctat cactgccgct ctgcccctcc ccatgagcca gatcccacca
     2341 gtttctggac gtggagagtc tggggcatct ccttcttatg ccaaggggcg cttggagttt
     2401 tcatggctgc ccctccagac tgcgagaaac aagtaaaaac ccattggggc ctcttgatgt
     2461 ctgggatggc acgtggcccg acctccacaa gctccctcat gcttcctgtc ccccgcttac
     2521 acgacaacgg gccagaccac aggaaggacg gtgtttgtgt ctgagggagc tgctggccac
     2581 agtgaacacc cacgtttatt cctgcctgct ccggccagga ctgaacccct tctccacacc
     2641 tgaacagttg gctcaagggc caccagaagc atttctttat tattattatt ttttaacctg
     2701 gacatgcatt aaagggtcta ttagctttct ttccgtctgt ctcaacagct gagatggggc
     2761 cgccaaggag tgccttcctt ttgctccctc ctagctggga gtgacgggtg ggagtgtgtg
     2821 tgcccaggtg ggggtgtctc ctggctggga aggagggaaa gggagggaga gttttgcggg
     2881 ggttggcagt ggagagcagg ctggagagga gatggctaat agctgtttaa tggaaacctg
     2941 ctgggctgga gggagttagg ctgaatttcc cgacttcctc tgccagttat tgacacagct
     3001 ctctttgtaa gagaggaaag aaactaaacc cacccaaggg atgatgtcag ggggagaggt
     3061 ggagggcaga tgtcctgggc aaaccgggcc cctctgccca cacacctcac ttgatccttt
     3121 tgccaaactt gtcaaactca ggggaactgg cttcccagtt gcccctttgc catattccaa
     3181 gtccccctca gacttcatgt ctctgctcat cagcactgtc ccaggatcct ggagagggag
     3241 aactcctggc cccaggggaa agaggggggg gtctcccgtt tcctgtgcct gcaccagccc
     3301 tgcccccatt gcgtctgcac acccctgcgt gtaactgcat tccaaccact aataaagtgc
     3361 ctattgtaca ggtc
//
