LOCUS       NM_004867               1616 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens integral membrane protein 2A (ITM2A), transcript
            variant 1, mRNA.
ACCESSION   NM_004867
VERSION     NM_004867.5
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 1616)
  AUTHORS   Cho,W.K., Baek,I.C., Kim,S.E., Kim,M., Kim,T.G. and Suh,B.K.
  TITLE     Association of ITM2A rs1751094 polymorphism on X chromosome in
            Korean pediatric patients with autoimmune thyroid disease
  JOURNAL   Immun Inflamm Dis 11 (3), e800 (2023)
   PUBMED   36988246
  REMARK    GeneRIF: Association of ITM2A rs1751094 polymorphism on X
            chromosome in Korean pediatric patients with autoimmune thyroid
            disease.
REFERENCE   2  (bases 1 to 1616)
  AUTHORS   Zhao,N.Q., Pan,C.Y., Zhang,T.Z., Liu,P., Hu,T.Z., Shang,Q., Luo,H.,
            Fang,Q. and Wang,J.S.
  TITLE     [Study on the Relationship between Integrin 2A and Drug Resistance
            in Chronic Myeloid Leukemia]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 31 (1), 8-16 (2023)
   PUBMED   36765470
  REMARK    GeneRIF: [Study on the Relationship between Integrin 2A and Drug
            Resistance in Chronic Myeloid Leukemia].
REFERENCE   3  (bases 1 to 1616)
  AUTHORS   Morales-Alcala,C.C., Georgiou,I.C., Timmis,A.J. and Riobo-Del
            Galdo,N.A.
  TITLE     Integral Membrane Protein 2A Is a Negative Regulator of Canonical
            and Non-Canonical Hedgehog Signalling
  JOURNAL   Cells 10 (8), 2003 (2021)
   PUBMED   34440772
  REMARK    GeneRIF: Integral Membrane Protein 2A Is a Negative Regulator of
            Canonical and Non-Canonical Hedgehog Signalling.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1616)
  AUTHORS   Lari,A., Gholami Pourbadie,H., Jafari,M., Sharifi-Zarchi,A.,
            Akhtari,M., Nejatbakhsh Samimi,L., Jamshidi,A. and Mahmoudi,M.
  TITLE     Downregulation of ITM2A Gene Expression in Macrophages of Patients
            with Ankylosing Spondylitis
  JOURNAL   Int Arch Allergy Immunol 182 (11), 1113-1121 (2021)
   PUBMED   34161951
  REMARK    GeneRIF: Downregulation of ITM2A Gene Expression in Macrophages of
            Patients with Ankylosing Spondylitis.
REFERENCE   5  (bases 1 to 1616)
  AUTHORS   Cho,W.K., Shin,H.R., Lee,N.Y., Kim,S.K., Ahn,M.B., Baek,I.C.,
            Kim,T.G. and Suh,B.K.
  TITLE     GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the
            X chromosome in Korean Children with Autoimmune Thyroid Disease
  JOURNAL   Genes (Basel) 11 (8), 858 (2020)
   PUBMED   32727090
  REMARK    GeneRIF: GPR174 and ITM2A Gene Polymorphisms rs3827440 and
            rs5912838 on the X chromosome in Korean Children with Autoimmune
            Thyroid Disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1616)
  AUTHORS   Kirchner,J. and Bevan,M.J.
  TITLE     ITM2A is induced during thymocyte selection and T cell activation
            and causes downregulation of CD8 when overexpressed in CD4(+)CD8(+)
            double positive thymocytes
  JOURNAL   J Exp Med 190 (2), 217-228 (1999)
   PUBMED   10432285
REFERENCE   7  (bases 1 to 1616)
  AUTHORS   Pittois,K., Wauters,J., Bossuyt,P., Deleersnijder,W. and
            Merregaert,J.
  TITLE     Genomic organization and chromosomal localization of the Itm2a gene
  JOURNAL   Mamm Genome 10 (1), 54-56 (1999)
   PUBMED   9892734
REFERENCE   8  (bases 1 to 1616)
  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   9  (bases 1 to 1616)
  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
REFERENCE   10 (bases 1 to 1616)
  AUTHORS   Prashar,Y. and Weissman,S.M.
  TITLE     Analysis of differential gene expression by display of 3' end
            restriction fragments of cDNAs
  JOURNAL   Proc Natl Acad Sci U S A 93 (2), 659-663 (1996)
   PUBMED   8570611
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA365726.1, BC040437.1,
            BM561934.1 and AY359051.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004867.4.
            
            Summary: This gene encodes a type II membrane protein that belongs
            to the ITM2 family. Studies in mouse suggest that it may be
            involved in osteo- and chondrogenic differentiation. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: BC034485.1, SRR3476690.1175785.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373298.7/ ENSP00000362395.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-293               DA365726.1         263-555
            294-1053            BC040437.1         267-1026
            1054-1257           BM561934.1         516-719
            1258-1616           AY359051.1         1219-1577
FEATURES             Location/Qualifiers
     source          1..1616
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     gene            1..1616
                     /gene="ITM2A"
                     /gene_synonym="BRICD2A; E25A"
                     /note="integral membrane protein 2A"
                     /db_xref="GeneID:9452"
                     /db_xref="HGNC:HGNC:6173"
                     /db_xref="MIM:300222"
     exon            1..230
                     /gene="ITM2A"
                     /gene_synonym="BRICD2A; E25A"
                     /inference="alignment:Splign:2.1.0"
     CDS             120..911
                     /gene="ITM2A"
                     /gene_synonym="BRICD2A; E25A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BRICHOS domain containing 2A"
                     /codon_start=1
                     /product="integral membrane protein 2A isoform 1"
                     /protein_id="NP_004858.1"
                     /db_xref="CCDS:CCDS14444.1"
                     /db_xref="GeneID:9452"
                     /db_xref="HGNC:HGNC:6173"
                     /db_xref="MIM:300222"
                     /translation="MVKIAFNTPTAVQKEEARQDVEALLSRTVRTQILTGKELRVATQ
                     EKEGSSGRCMLTLLGLSFILAGLIVGGACIYKYFMPKSTIYRGEMCFFDSEDPANSLR
                     GGEPNFLPVTEEADIREDDNIAIIDVPVPSFSDSDPAAIIHDFEKGMTAYLDLLLGNC
                     YLMPLNTSIVMPPKNLVELFGKLASGRYLPQTYVVREDLVAVEEIRDVSNLGIFIYQL
                     CNNRKSFRLRRRDLLLGFNKRAIDKCWKIRHFPNEFIVETKICQE"
     exon            231..362
                     /gene="ITM2A"
                     /gene_synonym="BRICD2A; E25A"
                     /inference="alignment:Splign:2.1.0"
     exon            363..560
                     /gene="ITM2A"
                     /gene_synonym="BRICD2A; E25A"
                     /inference="alignment:Splign:2.1.0"
     exon            561..671
                     /gene="ITM2A"
                     /gene_synonym="BRICD2A; E25A"
                     /inference="alignment:Splign:2.1.0"
     exon            672..822
                     /gene="ITM2A"
                     /gene_synonym="BRICD2A; E25A"
                     /inference="alignment:Splign:2.1.0"
     exon            823..1616
                     /gene="ITM2A"
                     /gene_synonym="BRICD2A; E25A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1596..1601
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITM2A"
                     /gene_synonym="BRICD2A; E25A"
                     /note="hexamer: AATAAA"
     polyA_site      1616
                     /gene="ITM2A"
                     /gene_synonym="BRICD2A; E25A"
                     /note="major polyA site"
ORIGIN      
        1 agtagtgtta gactgaagat aaagtaagtg ctgtttgggc taacaggatc tcctcttgca
       61 gtctgcagcc caggacgctg attccagcag cgccttaccg cgcagcccga agattcacta
      121 tggtgaaaat cgccttcaat acccctaccg ccgtgcaaaa ggaggaggcg cggcaagacg
      181 tggaggccct cctgagccgc acggtcagaa ctcagatact gaccggcaag gagctccgag
      241 ttgccaccca ggaaaaagag ggctcctctg ggagatgtat gcttactctc ttaggccttt
      301 cattcatctt ggcaggactt attgttggtg gagcctgcat ttacaagtac ttcatgccca
      361 agagcaccat ttaccgtgga gagatgtgct tttttgattc tgaggatcct gcaaattccc
      421 ttcgtggagg agagcctaac ttcctgcctg tgactgagga ggctgacatt cgtgaggatg
      481 acaacattgc aatcattgat gtgcctgtcc ccagtttctc tgatagtgac cctgcagcaa
      541 ttattcatga ctttgaaaag ggaatgactg cttacctgga cttgttgctg gggaactgct
      601 atctgatgcc cctcaatact tctattgtta tgcctccaaa aaatctggta gagctctttg
      661 gcaaactggc gagtggcaga tatctgcctc aaacttatgt ggttcgagaa gacctagttg
      721 ctgtggagga aattcgtgat gttagtaacc ttggcatctt tatttaccaa ctttgcaata
      781 acagaaagtc cttccgcctt cgtcgcagag acctcttgct gggtttcaac aaacgtgcca
      841 ttgataaatg ctggaagatt agacacttcc ccaacgaatt tattgttgag accaagatct
      901 gtcaagagta agaggcaaca gatagagtgt ccttggtaat aagaagtcag agatttacaa
      961 tatgacttta acattaaggt ttatgggata ctcaagatat ttactcatgc atttactcta
     1021 ttgcttatgc tttaaaaaaa ggaaaaaaaa aaactactaa ccactgcaag ctcttgtcaa
     1081 attttagttt aattggcatt gcttgttttt tgaaactgaa attacatgag tttcattttt
     1141 tctttgaatt tatagggttt agatttctga aagcagcatg aatatatcac ctaacatcct
     1201 gacaataaat tccatccgtt gttttttttg tttgtttgtt ttttcttttc ctttaagtaa
     1261 gctctttatt catcttatgg tggagcaatt ttaaaatttg aaatatttta aattgttttt
     1321 gaactttttg tgtaaaatat atcagatctc aacattgttg gtttcttttg tttttcattt
     1381 tgtacaactt tcttgaattt agaaattaca tctttgcagt tctgttaggt gctctgtaat
     1441 taacctgact tatatgtgaa caattttcat gagacagtca tttttaacta atgcagtgat
     1501 tctttctcac tactatctgt attgtggaat gcacaaaatt gtgtaggtgc tgaatgctgt
     1561 aaggagttta ggttgtatga attctacaac cctataataa attttactct atacaa
//
