LOCUS       NM_030926               2037 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens integral membrane protein 2C (ITM2C), transcript
            variant 1, mRNA.
ACCESSION   NM_030926
VERSION     NM_030926.6
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 2037)
  AUTHORS   Maurya,N.S., Kushwaha,S., Vetukuri,R.R. and Mani,A.
  TITLE     Unlocking the Potential of the CA2, CA7, and ITM2C Gene Signatures
            for the Early Detection of Colorectal Cancer: A Comprehensive
            Analysis of RNA-Seq Data by Utilizing Machine Learning Algorithms
  JOURNAL   Genes (Basel) 14 (10), 1836 (2023)
   PUBMED   37895185
  REMARK    GeneRIF: Unlocking the Potential of the CA2, CA7, and ITM2C Gene
            Signatures for the Early Detection of Colorectal Cancer: A
            Comprehensive Analysis of RNA-Seq Data by Utilizing Machine
            Learning Algorithms.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2037)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2037)
  AUTHORS   Yoshida,T., Kato,K., Yokoi,K., Oguri,M., Watanabe,S., Metoki,N.,
            Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
  TITLE     Association of genetic variants with hemorrhagic stroke in Japanese
            individuals
  JOURNAL   Int J Mol Med 25 (4), 649-656 (2010)
   PUBMED   20198315
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2037)
  AUTHORS   Oguri,M., Kato,K., Yokoi,K., Yoshida,T., Watanabe,S., Metoki,N.,
            Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
  TITLE     Assessment of a polymorphism of SDK1 with hypertension in Japanese
            Individuals
  JOURNAL   Am J Hypertens 23 (1), 70-77 (2010)
   PUBMED   19851296
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2037)
  AUTHORS   Matsuda,S., Matsuda,Y. and D'Adamio,L.
  TITLE     CD74 interacts with APP and suppresses the production of Abeta
  JOURNAL   Mol Neurodegener 4, 41 (2009)
   PUBMED   19849849
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2037)
  AUTHORS   Wu,H., Liu,G., Li,C. and Zhao,S.
  TITLE     bri3, a novel gene, participates in tumor necrosis
            factor-alpha-induced cell death
  JOURNAL   Biochem Biophys Res Commun 311 (2), 518-524 (2003)
   PUBMED   14592447
REFERENCE   7  (bases 1 to 2037)
  AUTHORS   Vidal,R., Calero,M., Revesz,T., Plant,G., Ghiso,J. and Frangione,B.
  TITLE     Sequence, genomic structure and tissue expression of Human BRI3, a
            member of the BRI gene family
  JOURNAL   Gene 266 (1-2), 95-102 (2001)
   PUBMED   11290423
REFERENCE   8  (bases 1 to 2037)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   9  (bases 1 to 2037)
  AUTHORS   Mao,M., Fu,G., Wu,J.S., Zhang,Q.H., Zhou,J., Kan,L.X., Huang,Q.H.,
            He,K.L., Gu,B.W., Han,Z.G., Shen,Y., Gu,J., Yu,Y.P., Xu,S.H.,
            Wang,Y.X., Chen,S.J. and Chen,Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8175-8180 (1998)
   PUBMED   9653160
REFERENCE   10 (bases 1 to 2037)
  AUTHORS   Deleersnijder,W., Hong,G., Cortvrindt,R., Poirier,C.,
            Tylzanowski,P., Pittois,K., Van Marck,E. and Merregaert,J.
  TITLE     Isolation of markers for chondro-osteogenic differentiation using
            cDNA library subtraction. Molecular cloning and characterization of
            a gene belonging to a novel multigene family of integral membrane
            proteins
  JOURNAL   J Biol Chem 271 (32), 19475-19482 (1996)
   PUBMED   8702637
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF272043.1 and BC098563.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030926.5.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). Both variants 1 and 5 encode the same isoform.
            
            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 :: AF271781.1, AF272043.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326427.11/ ENSP00000322730.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2036              AF272043.1         30-2065
            2037-2037           BC098563.1         1998-1998
FEATURES             Location/Qualifiers
     source          1..2037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2037
                     /gene="ITM2C"
                     /gene_synonym="BRI3; BRICD2C; E25; E25C; ITM3"
                     /note="integral membrane protein 2C"
                     /db_xref="GeneID:81618"
                     /db_xref="HGNC:HGNC:6175"
                     /db_xref="MIM:609554"
     exon            1..204
                     /gene="ITM2C"
                     /gene_synonym="BRI3; BRICD2C; E25; E25C; ITM3"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..888
                     /gene="ITM2C"
                     /gene_synonym="BRI3; BRICD2C; E25; E25C; ITM3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BRICHOS domain containing 2C; integral membrane protein 3;
                     cerebral protein 14; transmembrane protein BRI3"
                     /codon_start=1
                     /product="integral membrane protein 2C isoform 1"
                     /protein_id="NP_112188.1"
                     /db_xref="CCDS:CCDS2479.1"
                     /db_xref="GeneID:81618"
                     /db_xref="HGNC:HGNC:6175"
                     /db_xref="MIM:609554"
                     /translation="MVKISFQPAVAGIKGDKADKASASAPAPASATEILLTPAREEQP
                     PQHRSKRGGSVGGVCYLSMGMVVLLMGLVFASVYIYRYFFLAQLARDNFFRCGVLYED
                     SLSSQVRTQMELEEDVKIYLDENYERINVPVPQFGGGDPADIIHDFQRGLTAYHDISL
                     DKCYVIELNTTIVLPPRNFWELLMNVKRGTYLPQTYIIQEEMVVTEHVSDKEALGSFI
                     YHLCNGKDTYRLRRRATRRRINKRGAKNCNAIRHFENTFVVETLICGVV"
     exon            205..345
                     /gene="ITM2C"
                     /gene_synonym="BRI3; BRICD2C; E25; E25C; ITM3"
                     /inference="alignment:Splign:2.1.0"
     exon            346..534
                     /gene="ITM2C"
                     /gene_synonym="BRI3; BRICD2C; E25; E25C; ITM3"
                     /inference="alignment:Splign:2.1.0"
     exon            535..645
                     /gene="ITM2C"
                     /gene_synonym="BRI3; BRICD2C; E25; E25C; ITM3"
                     /inference="alignment:Splign:2.1.0"
     exon            646..796
                     /gene="ITM2C"
                     /gene_synonym="BRI3; BRICD2C; E25; E25C; ITM3"
                     /inference="alignment:Splign:2.1.0"
     exon            797..2037
                     /gene="ITM2C"
                     /gene_synonym="BRI3; BRICD2C; E25; E25C; ITM3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2016..2021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITM2C"
                     /gene_synonym="BRI3; BRICD2C; E25; E25C; ITM3"
                     /note="hexamer: AATAAA"
     polyA_site      2037
                     /gene="ITM2C"
                     /gene_synonym="BRI3; BRICD2C; E25; E25C; ITM3"
                     /note="major polyA site"
ORIGIN      
        1 gcctgcagag ctcggagcgg cggaggcaga gaccgaggct gcaccggcag aggctgcggg
       61 gcggacgcgc gggccggcgc agccatggtg aagattagct tccagcccgc cgtggctggc
      121 atcaagggcg acaaggctga caaggcgtcg gcgtcggccc ctgcgccggc ctcggccacc
      181 gagatcctgc tgacgccggc tagggaggag cagcccccac aacatcgatc caagaggggg
      241 ggctcagtgg gcggcgtgtg ctacctgtcg atgggcatgg tcgtgctgct catgggcctc
      301 gtgttcgcct ctgtctacat ctacagatac ttcttccttg cgcagctggc ccgagataac
      361 ttcttccgct gtggtgtgct gtatgaggac tccctgtcct cccaggtccg gactcagatg
      421 gagctggaag aggatgtgaa aatctacctc gacgagaact acgagcgcat caacgtgcct
      481 gtgccccagt ttggcggcgg tgaccctgca gacatcatcc atgacttcca gcggggtctg
      541 actgcgtacc atgatatctc cctggacaag tgctatgtca tcgaactcaa caccaccatt
      601 gtgctgcccc ctcgcaactt ctgggagctc ctcatgaacg tgaagagggg gacctacctg
      661 ccgcagacgt acatcatcca ggaggagatg gtggtcacgg agcatgtcag tgacaaggag
      721 gccctggggt ccttcatcta ccacctgtgc aacgggaaag acacctaccg gctccggcgc
      781 cgggcaacgc ggaggcggat caacaagcgt ggggccaaga actgcaatgc catccgccac
      841 ttcgagaaca ccttcgtggt ggagacgctc atctgcgggg tggtgtgagg ccctcctccc
      901 ccagaacccc ctgccgtgtt cctcttttct tctttccggc tgctctctgg ccctcctcct
      961 tccccctgct tagcttgtac tttggacgcg tttctataga ggtgacatgt ctctccattc
     1021 ctctccaacc ctgcccacct ccctgtacca gagctgtgat ctctcggtgg ggggcccatc
     1081 tctgctgacc tgggtgtggc ggagggagag gcgatgctgc aaagtgtttt ctgtgtccca
     1141 ctgtcttgaa gctgggcctg ccaaagcctg ggcccacagc tgcaccggca gcccaagggg
     1201 aaggaccggt tgggggagcc gggcatgtga ggccctgggc aaggggatgg ggctgtgggg
     1261 gcggggcggc atgggcttca gaagtatctg cacaattaga aaagtcctca gaagcttttt
     1321 cttggagggt acactttctt cactgtccct attcctagac ctggggcttg agctgaggat
     1381 gggacgatgt gcccagggag ggacccacca gagcacaaga gaaggtggct acctgggggt
     1441 gtcccaggga ctctgtcagt gccttcagcc caccagcagg agcttggagt ttggggagtg
     1501 gggatgagtc cgtcaagcac aactgttctc tgagtggaac caaagaagca aggagctagg
     1561 acccccagtc ctgcccccca ggagcacaag cagggtcccc tcagtcaagg cagtgggatg
     1621 ggcggctgag gaacggggca ggcaaggtca ctgctcagtc acgtccacgg gggacgagcc
     1681 gtgggttctg ctgagtaggt ggagctcatt gctttctcca agcttggaac tgttttgaaa
     1741 gataacacag agggaaaggg agagccacct ggtacttgtc caccctgcct cctctgttct
     1801 gaaattccat ccccctcagc ttaggggaat gcaccttttt ccctttcctt ctcacttttg
     1861 catgttttta ctgatcattc gatatgctaa ccgttctcag ccctgagcct tggagaggag
     1921 ggctgtaacg ccttcagtca gtctctgggg atgaaactct taaatgcttt gtatattttc
     1981 tcaattagat ctcttttcag aagtgtctat agaacaataa aaatctttta cttctga
//
