LOCUS       NM_000355               2192 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens transcobalamin 2 (TCN2), transcript variant 1, mRNA.
ACCESSION   NM_000355
VERSION     NM_000355.4
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 2192)
  AUTHORS   Cao,B., Li,M., Li,X., Ji,X., Wan,L., Jiang,Y., Zhou,L., Gong,F. and
            Chen,X.
  TITLE     Innovative biomarkers TCN2 and LY6E can significantly inhibit
            respiratory syncytial virus infection
  JOURNAL   J Transl Med 22 (1), 854 (2024)
   PUBMED   39313785
  REMARK    GeneRIF: Innovative biomarkers TCN2 and LY6E can significantly
            inhibit respiratory syncytial virus infection.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2192)
  AUTHORS   Liu,B., Li,A., Liu,Y., Zhou,X., Xu,J., Zuo,X., Xue,K. and Cui,Y.
  TITLE     Transcobalamin 2 orchestrates monocyte proliferation and
            TLR4-driven inflammation in systemic lupus erythematosus via folate
            one-carbon metabolism
  JOURNAL   Front Immunol 15, 1339680 (2024)
   PUBMED   38881906
  REMARK    GeneRIF: Transcobalamin 2 orchestrates monocyte proliferation and
            TLR4-driven inflammation in systemic lupus erythematosus via folate
            one-carbon metabolism.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2192)
  AUTHORS   Oshi,M.A.M., Alfaifi,J., Alqahtani,Y.A.M., Aljabri,M.F.,
            Kamal,N.M., Althopaity,J., Althobaiti,K.A., Almalki,A.M.,
            Abosabie,S.A.S., Abosabie,S.A., Sherbiny,H.S., Almanjoomi,S.K. and
            Abdallah,E.A.A.
  TITLE     'Progressive myoclonic ataxia and developmental/epileptic
            encephalopathy associated with a novel homozygous mutation in TCN2
            gene'
  JOURNAL   Mol Genet Genomic Med 12 (1), e2282 (2024)
   PUBMED   37800653
  REMARK    GeneRIF: 'Progressive myoclonic ataxia and developmental/epileptic
            encephalopathy associated with a novel homozygous mutation in TCN2
            gene'.
REFERENCE   4  (bases 1 to 2192)
  AUTHORS   Kwon,B.N., Lee,N.R., Kim,H.J., Kang,Y.D., Kim,J.S., Park,J.W. and
            Jin,H.J.
  TITLE     Folate metabolizing gene polymorphisms and genetic vulnerability to
            preterm birth in Korean women
  JOURNAL   Genes Genomics 43 (8), 937-945 (2021)
   PUBMED   34027569
  REMARK    GeneRIF: Folate metabolizing gene polymorphisms and genetic
            vulnerability to preterm birth in Korean women.
REFERENCE   5  (bases 1 to 2192)
  AUTHORS   Boachie,J., Adaikalakoteswari,A., Goljan,I., Samavat,J.,
            Cagampang,F.R. and Saravanan,P.
  TITLE     Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are
            Modulated by CD320 Receptor and TCN2 Transporter
  JOURNAL   Int J Mol Sci 22 (6), 3089 (2021)
   PUBMED   33803025
  REMARK    GeneRIF: Intracellular and Tissue Levels of Vitamin B12 in
            Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2192)
  AUTHORS   Platica,O., Janeczko,R., Quadros,E.V., Regec,A., Romain,R. and
            Rothenberg,S.P.
  TITLE     The cDNA sequence and the deduced amino acid sequence of human
            transcobalamin II show homology with rat intrinsic factor and human
            transcobalamin I
  JOURNAL   J Biol Chem 266 (12), 7860-7863 (1991)
   PUBMED   1708393
REFERENCE   7  (bases 1 to 2192)
  AUTHORS   Barshop,B.A., Wolff,J., Nyhan,W.L., Yu,A., Prodanos,C., Jones,G.,
            Sweetman,L., Leslie,J., Holm,J., Green,R. et al.
  TITLE     Transcobalamin II deficiency presenting with methylmalonic aciduria
            and homocystinuria and abnormal absorption of cobalamin
  JOURNAL   Am J Med Genet 35 (2), 222-228 (1990)
   PUBMED   2309761
REFERENCE   8  (bases 1 to 2192)
  AUTHORS   Arwert,F., Porck,H.J., Frater-Schroder,M., Brahe,C., Geurts van
            Kessel,A., Westerveld,A., Meera Khan,P., Zang,K., Frants,R.R.,
            Kortbeek,H.T. et al.
  TITLE     Assignment of human transcobalamin II (TC2) to chromosome 22 using
            somatic cell hybrids and monosomic meningioma cells
  JOURNAL   Hum Genet 74 (4), 378-381 (1986)
   PUBMED   3466852
REFERENCE   9  (bases 1 to 2192)
  AUTHORS   Eiberg,H., Moller,N., Mohr,J. and Nielsen,L.S.
  TITLE     Linkage of transcobalamin II (TC2) to the P blood group system and
            assignment to chromosome 22
  JOURNAL   Clin Genet 29 (5), 354-359 (1986)
   PUBMED   3461892
REFERENCE   10 (bases 1 to 2192)
  AUTHORS   Daiger,S.P., Labowe,M.L., Parsons,M., Wang,L. and
            Cavalli-Sforza,L.L.
  TITLE     Detection of genetic variation with radioactive ligands. III.
            genetic polymorphism of transcobalamin II in human plasma
  JOURNAL   Am J Hum Genet 30 (2), 202-214 (1978)
   PUBMED   655167
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005006.2 and BC001176.1.
            
            On May 17, 2019 this sequence version replaced NM_000355.3.
            
            Summary: This gene encodes a member of the vitamin B12-binding
            protein family. This family of proteins, alternatively referred to
            as R binders, is expressed in various tissues and secretions. This
            plasma protein binds cobalamin and mediates the transport of
            cobalamin into cells. This protein and other mammalian
            cobalamin-binding proteins, such as transcobalamin I and gastric
            intrisic factor, may have evolved by duplication of a common
            ancestral gene. Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR1803612.24728.1,
                                           SRR1803612.232228.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215838.8/ ENSP00000215838.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AC005006.2         56456-56486
            32-837              BC001176.1         1-806
            838-911             AC005006.2         64682-64755
            912-1098            AC005006.2         64883-65069
            1099-1264           AC005006.2         66612-66777
            1265-1380           AC005006.2         72250-72365
            1381-1926           AC005006.2         75742-76287
            1927-1981           BC001176.1         1896-1950
            1982-2192           AC005006.2         76343-76553
FEATURES             Location/Qualifiers
     source          1..2192
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..2192
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /note="transcobalamin 2"
                     /db_xref="GeneID:6948"
                     /db_xref="HGNC:HGNC:11653"
                     /db_xref="MIM:613441"
     exon            1..222
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1442
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; macrocytic anemia; transcobalamin II;
                     macrocytic anemia; vitamin B12-binding protein 2"
                     /codon_start=1
                     /product="transcobalamin-2 isoform 1 precursor"
                     /protein_id="NP_000346.2"
                     /db_xref="CCDS:CCDS13881.1"
                     /db_xref="GeneID:6948"
                     /db_xref="HGNC:HGNC:11653"
                     /db_xref="MIM:613441"
                     /translation="MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDR
                     LSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGYQQCLLGSAFSEDDGDCQGKPSM
                     GQLALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLG
                     ILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQR
                     ITMAIRTVREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTACLKARVALLA
                     SLQDGAFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTL
                     QVLSLLPPYRQSISVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGER
                     EFWQLLRDPNTPLLQGIADYRPKDGETIELRLVSW"
     exon            223..415
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /inference="alignment:Splign:2.1.0"
     exon            416..585
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /inference="alignment:Splign:2.1.0"
     exon            586..738
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /inference="alignment:Splign:2.1.0"
     exon            739..911
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /inference="alignment:Splign:2.1.0"
     exon            912..1098
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1264
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1380
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..2192
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1953..1958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /note="hexamer: ATTAAA"
     polyA_site      1981
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /note="major polyA site"
     polyA_site      2192
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
ORIGIN      
        1 gcagacttag ccgtgcattg caggcatgga ggattaatca gtgacaggaa gctgcgtctc
       61 tcggagcggt gaccagctgt ggtcaggaga gcctcagcag ggccagcccc aggagtcttt
      121 cccgattctt gctcactgct cacccacctg ctgctgccat gaggcacctt ggggccttcc
      181 tcttccttct gggggtcctg ggggccctca ctgagatgtg tgaaatacca gagatggaca
      241 gccatctggt agagaagttg ggccagcacc tcttaccttg gatggaccgg ctttccctgg
      301 agcacttgaa ccccagcatc tatgtgggcc tacgcctctc cagtctgcag gctgggacca
      361 aggaagacct ctacctgcac agcctcaagc ttggttacca gcagtgcctc ctagggtctg
      421 ccttcagcga ggatgacggt gactgccagg gcaagccttc catgggccag ctggccctct
      481 acctgctcgc tctcagagcc aactgtgagt ttgtcagggg ccacaagggg gacaggctgg
      541 tctcacagct caaatggttc ctggaggatg agaagagagc cattgggcat gatcacaagg
      601 gccaccccca cactagctac taccagtatg gcctgggcat tctggccctg tgtctccacc
      661 agaagcgggt ccatgacagc gtggtggaca aacttctgta tgctgtggaa cctttccacc
      721 agggccacca ttctgtggac acagcagcca tggcaggctt ggcattcacc tgtctgaagc
      781 gctcaaactt caaccctggt cggagacaac ggatcaccat ggccatcaga acagtgcgag
      841 aggagatctt gaaggcccag acccccgagg gccactttgg gaatgtctac agcaccccat
      901 tggcattaca gttcctcatg acttccccca tgcgtggggc agaactggga acagcatgtc
      961 tcaaggcgag ggttgctttg ctggccagtc tgcaggatgg agccttccag aatgctctca
     1021 tgatttccca gctgctgccc gttctgaacc acaagaccta cattgatctg atcttcccag
     1081 actgtctggc accacgagtc atgttggaac cagctgctga gaccattcct cagacccaag
     1141 agatcatcag tgtcacgctg caggtgctta gtctcttgcc gccgtacaga cagtccatct
     1201 ctgttctggc cgggtccacc gtggaagatg tcctgaagaa ggcccatgag ttaggaggat
     1261 tcacatatga aacacaggcc tccttgtcag gcccctactt aacctccgtg atggggaaag
     1321 cggccggaga aagggagttc tggcagcttc tccgagaccc caacacccca ctgttgcaag
     1381 gtattgctga ctacagaccc aaggatggag aaaccattga gctgaggctg gttagctggt
     1441 agcccctgag ctccctcatc ccagcagcct cgcacactcc ctaggcttct accctccctc
     1501 ctgatgtccc tggaacagga actcgcctga ccctgctgcc acctcctgtg cactttgagc
     1561 aatgccccct gggatcaccc cagccacaag cccttcgagg gccctatacc atggcccacc
     1621 ttggagcaga gagccaagca tcttccctgg gaagtctttc tggccaagtc tggccagcct
     1681 ggccctgcag gtctcccatg aaggccaccc catggtctga tgggcatgaa gcatctcaga
     1741 ctccttggca aaaaacggag tccgcaggcc gcaggtgttg tgaagaccac tcgttctgtg
     1801 gttggggtcc tgcaagaagg cctcctcagc ccgggggcta tggccctgac cccagctctc
     1861 cactctgctg ttagagtggc agctccgagc tggttgtggc acagtagctg gggagacctc
     1921 agcagggctg ctcagtgcct gcctctgaca aaattaaagc attgatggcc tgtggacctg
     1981 ctacagtggc ctggtgcctc atactcctca ggtgcagggg cagggacaag agaaggggga
     2041 agtaacccca tcagggagga gtggagggtg cctgagccgc catgtgggca ttgggggagt
     2101 gatgggaatg ccagcagtga tgacattgac tactgactga gcacccacta ctatgactga
     2161 gcactcactc gctagatact atcttgaact gc
//
