LOCUS       NM_002180               3914 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens immunoglobulin mu DNA binding protein 2 (IGHMBP2),
            mRNA.
ACCESSION   NM_002180
VERSION     NM_002180.3
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 3914)
  AUTHORS   Park,J., Desai,H., Liboy-Lugo,J.M., Gu,S., Jowhar,Z., Xu,A. and
            Floor,S.N.
  TITLE     IGHMBP2 deletion suppresses translation and activates the
            integrated stress response
  JOURNAL   Life Sci Alliance 7 (8), e202302554 (2024)
   PUBMED   38803225
  REMARK    GeneRIF: IGHMBP2 deletion suppresses translation and activates the
            integrated stress response.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3914)
  AUTHORS   Prusty,A.B., Hirmer,A., Sierra-Delgado,J.A., Huber,H.,
            Guenther,U.P., Schlosser,A., Dybkov,O., Yildirim,E., Urlaub,H.,
            Meyer,K.C., Jablonka,S., Erhard,F. and Fischer,U.
  TITLE     RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA
            homeostasis
  JOURNAL   Cell Rep 43 (2), 113802 (2024)
   PUBMED   38368610
  REMARK    GeneRIF: RNA helicase IGHMBP2 regulates THO complex to ensure
            cellular mRNA homeostasis.
REFERENCE   3  (bases 1 to 3914)
  AUTHORS   Rzepnikowska,W., Kaminska,J. and Kochanski,A.
  TITLE     Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based
            on Yeast S. cerevisiae Model
  JOURNAL   Int J Mol Sci 23 (17), 9913 (2022)
   PUBMED   36077311
  REMARK    GeneRIF: Validation of the Pathogenic Effect of IGHMBP2 Gene
            Mutations Based on Yeast S. cerevisiae Model.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3914)
  AUTHORS   Lei,L., Zhiqiang,L., Xiaobo,L., Zhengmao,H., Shunxiang,H.,
            Huadong,Z., Beisha,T. and Ruxu,Z.
  TITLE     Clinical and genetic features of Charcot-Marie-Tooth disease
            patients with IGHMBP2 mutations
  JOURNAL   Neuromuscul Disord 32 (7), 564-571 (2022)
   PUBMED   35660062
  REMARK    GeneRIF: Clinical and genetic features of Charcot-Marie-Tooth
            disease patients with IGHMBP2 mutations.
REFERENCE   5  (bases 1 to 3914)
  AUTHORS   Gulley,M.L., Zhang,Q., Gascoyne,R.D., DuPont,B.R., Banks,P.M.,
            Cho,C.G., Huang,J.M. and Montalvo,E.A.
  TITLE     Translocations of 11q13 in mantle cell lymphoma fail to disrupt the
            S mu bp-2 gene
  JOURNAL   Hematopathol Mol Hematol 11 (1), 1-11 (1997)
   PUBMED   9439975
REFERENCE   6  (bases 1 to 3914)
  AUTHORS   Fukita,Y., Mizuta,T.R., Shirozu,M., Ozawa,K., Shimizu,A. and
            Honjo,T.
  TITLE     The human S mu bp-2, a DNA-binding protein specific to the
            single-stranded guanine-rich sequence related to the immunoglobulin
            mu chain switch region
  JOURNAL   J Biol Chem 268 (23), 17463-17470 (1993)
   PUBMED   8349627
REFERENCE   7  (bases 1 to 3914)
  AUTHORS   Mizuta,T.R., Fukita,Y., Miyoshi,T., Shimizu,A. and Honjo,T.
  TITLE     Isolation of cDNA encoding a binding protein specific to
            5'-phosphorylated single-stranded DNA with G-rich sequences
  JOURNAL   Nucleic Acids Res 21 (8), 1761-1766 (1993)
   PUBMED   8493094
REFERENCE   8  (bases 1 to 3914)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   9  (bases 1 to 3914)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
REFERENCE   10 (bases 1 to 3914)
  AUTHORS   Kerr,D. and Khalili,K.
  TITLE     A recombinant cDNA derived from human brain encodes a DNA binding
            protein that stimulates transcription of the human neurotropic
            virus JCV
  JOURNAL   J Biol Chem 266 (24), 15876-15881 (1991)
   PUBMED   1714899
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB448398.1, BC025299.1,
            L14754.1 and BE302389.1.
            
            On Dec 4, 2019 this sequence version replaced NM_002180.2.
            
            Summary: This gene encodes a helicase superfamily member that binds
            a specific DNA sequence from the immunoglobulin mu chain switch
            region. Mutations in this gene lead to spinal muscle atrophy with
            respiratory distress type 1. [provided by RefSeq, Jul 2008].
            
            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 :: L14754.1, BC041808.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000255078.8/ ENSP00000255078.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                DB448398.1         41-55
            16-2653             BC025299.1         1-2638
            2654-3668           L14754.1           2641-3655
            3669-3914           BE302389.1         2-247               c
FEATURES             Location/Qualifiers
     source          1..3914
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.3"
     gene            1..3914
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /note="immunoglobulin mu DNA binding protein 2"
                     /db_xref="GeneID:3508"
                     /db_xref="HGNC:HGNC:5542"
                     /db_xref="MIM:600502"
     exon            1..148
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..3044
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /EC_number="3.6.4.13"
                     /EC_number="3.6.4.12"
                     /note="cardiac transcription factor 1; GF-1; glial factor
                     1; ATP-dependent helicase IGHMBP2; zinc finger, AN1-type
                     domain 7; immunoglobulin mu binding protein 2"
                     /codon_start=1
                     /product="DNA-binding protein SMUBP-2"
                     /protein_id="NP_002171.2"
                     /db_xref="CCDS:CCDS8187.1"
                     /db_xref="GeneID:3508"
                     /db_xref="HGNC:HGNC:5542"
                     /db_xref="MIM:600502"
                     /translation="MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRG
                     VCLLKLQVSSQRTGLYGRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQLA
                     TGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHS
                     GPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGT
                     GKTTTVVEIILQAVKQGLKVLCCAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQ
                     QHSLDAVLARSDSAQIVADIRKDIDQVFVKNKKTQDKREKSNFRNEIKLLRKELKERE
                     EAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKA
                     RKCILAGDHKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMR
                     WASDTMYLGQLTAHSSVARHLLRDLPGVAATEETGVPLLLVDTAGCGLFELEEEDEQS
                     KGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELEIKSVDG
                     FQGREKEAVILSFVRSNRKGEVGFLAEDRRINVAVTRARRHVAVICDSRTVNNHAFLK
                     TLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEG
                     GQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGVESQDGVDHFRAMIVEFMASK
                     KMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFITVSKRAPRPRAALGPPAG
                     TGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQRVRSAQGQPASKEQQAS
                     GQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFAKCTAGVTTLGQFCQ
                     LCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGSLDPAKRAQLQRR
                     LDKKLSELSNQRTSRRKERGT"
     exon            149..318
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            319..511
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            512..609
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            610..773
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            774..974
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1122
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1123..1297
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1480
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1599
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..1694
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1695..1818
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1819..2673
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            2674..2846
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     exon            2847..3914
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3891..3896
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /note="hexamer: ATTAAA"
     polyA_site      3914
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; HMNR1; SMARD1;
                     SMUBP2; ZFAND7"
                     /note="major polyA site"
ORIGIN      
        1 gtaacaccgg cccggcgcag aagcgggacg tcggcttcta ggggcccagg ccggcggcgg
       61 cgatggcctc ggcagctgtg gagagcttcg tgaccaagca actggacctg ctggagcttg
      121 agagagacgc ggaggtggag gagcgcaggt cctggcagga gaacatctct ctgaaagagc
      181 tccagagccg aggcgtgtgt ttgctgaagc tgcaggtatc cagccagcgc actgggctgt
      241 acggacggct gctggtcacc tttgagccca ggcgatacgg gtccgcggca gctcttccca
      301 gtaacagctt tacttctggt gatatcgtgg gcctgtacga tgctgctaat gagggcagtc
      361 agctggccac tgggatcttg acccgggtca cccagaagtc ggtcacggtg gcctttgatg
      421 agtcccacga tttccagttg agcttggacc gagagaattc ctacagactg ttaaaacttg
      481 ccaatgatgt cacttacagg cgactgaaaa aagccctgat tgctctaaag aagtatcatt
      541 ctggcccagc ctcctcactc atagaagtgc tctttggcag atctgctccc agtcctgcca
      601 gtgaaataca cccgctgaca ttcttcaaca cctgcctgga cacctcccag aaagaagcgg
      661 ttttatttgc gctgtctcag aaagaacttg ccatcatcca tggacctcct ggcactggga
      721 aaaccacgac tgtggttgag atcattcttc aagctgtgaa acaaggctta aaggttctgt
      781 gctgcgcccc ctccaacatc gccgtggaca atctggtgga gcgcctggct ctgtgtaagc
      841 agcggattct gcgcctggga caccctgccc gcctcctgga gtccattcag cagcactccc
      901 tggatgcggt tttagcgcgg agcgacagtg cccagattgt tgcagatatc aggaaggaca
      961 tcgaccaggt ctttgtgaaa aacaaaaaga cccaggataa gagagagaaa agtaattttc
     1021 gaaatgaaat taagctgtta agaaaagaac tgaaggagag ggaagaagca gctatgctcg
     1081 agagcctcac ttcggcaaac gtggtccttg caacaaacac aggtgcgtct gccgatggcc
     1141 ccctgaagtt gctgcccgag agctacttcg acgtggtggt cattgacgag tgtgcccagg
     1201 ccctcgaggc gagctgctgg atccccctgc tgaaggccag aaagtgcatc ctggcgggcg
     1261 atcacaagca gctgcccccc accacagtct ctcacaaggc tgcgctggca ggactgtcac
     1321 tcagcctgat ggaacgcctg gctgaggagt acggcgcgag ggtggtgcgg acactgacgg
     1381 tgcagtaccg catgcaccag gctatcatgc gctgggcctc agacaccatg taccttgggc
     1441 agctcacagc ccactcttcc gtggcaaggc acctcctgag ggacctccca ggtgtggctg
     1501 ccacagaaga gacgggtgtg cccctgctct tggtggacac cgccggctgc gggctgtttg
     1561 agctggagga ggaggacgaa cagtcgaaag ggaaccctgg cgaagtccgc ctcgtcagtt
     1621 tgcacatcca ggctctggtg gacgctggtg ttccagcccg tgacattgct gtggtctcgc
     1681 catacaacct ccaggtggac ctgctcagac agagccttgt gcacaggcac cctgagcttg
     1741 aaatcaagtc tgtcgatggc ttccaaggcc gagagaagga ggccgtgata ctgtccttcg
     1801 tcagatccaa caggaaaggt gaagttggtt ttcttgctga ggaccggagg atcaacgtgg
     1861 ctgtcacccg tgcccgacgc cacgtggcgg tcatctgtga ctcccgtact gtcaacaacc
     1921 atgcattttt gaagaccctg gtggagtatt tcacacagca tggggaagta cgcacggcct
     1981 ttgagtatct tgacgatatt gtcccagaaa actattccca tgagaactcc cagggttcca
     2041 gccacgctgc caccaagccc cagggacctg ctacgtccac caggaccgga agccagcggc
     2101 aggagggagg ccaggaggct gcagcacctg ccagacaggg ccggaagaag ccggctggga
     2161 agtctctggc ctctgaagct ccatctcagc ccagcctcaa cggaggcagc ccagagggag
     2221 tggagagcca agatggcgtg gaccacttcc gggccatgat agtggagttc atggccagca
     2281 agaagatgca gttggagttt cctccttccc tcaattccca cgacaggctg cgggtccacc
     2341 aaatagccga ggagcacggg ctgaggcacg acagttccgg ggaagggaag aggaggttca
     2401 tcactgtgag caagagggcc ccgcgacccc gagcagccct gggaccccca gcagggaccg
     2461 gtggcccagc ccctctccag ccagtgcccc ctacccctgc gcagacagag cagcctccca
     2521 gggagcagcg tggcccagac cagcctgatc tgaggacgct gcacctggag agactgcaga
     2581 gggtcaggag cgcgcagggg cagcccgcca gcaaggagca gcaggcctca gggcagcaga
     2641 aacttccaga aaagaaaaag aaaaaagcca aaggacatcc ggccacagat ctgcccacgg
     2701 aggaggactt tgaggccctg gtttctgccg ccgttaaggc tgataacacc tgcggctttg
     2761 ccaagtgcac agccggcgtc acaaccctgg gccagttctg ccagctctgc agccgccgct
     2821 actgcctcag ccaccacctg cccgagatcc atggctgcgg tgagagggct cgcgcccatg
     2881 cccggcagag aatcagccgg gaaggggtcc tctatgccgg cagcgggacc aagaacggat
     2941 ccctggaccc agccaagagg gcccagctgc agaggaggct ggataagaag ctgagtgagc
     3001 tcagcaacca gaggaccagc cggaggaagg agagggggac gtgaccggcc gcatccttgc
     3061 acgccccgcg gagctctctc catggtagcc cagggcgctg gcagaccatg ctccgcctcc
     3121 accagggcca cagaggagcg gaggggccta tgggggagga gcggagggcc ctgttgggga
     3181 aggttgggtt tttggacccc agggataagc ttttccgatg tcacaatgtg gaggaaagca
     3241 cctgggggac aacagtgctc gtgcaggtgg ggcttgggaa atgcacgtcc cttcccctta
     3301 ctccccgcca aaacccacat cccagcctct ggatcctggg gaaggttcca gtccctggag
     3361 aatacccagg gcctcaaact tgaagtcact cctccaatgt ctgggacttg ccagctcagc
     3421 ccgttaggat gagggtgctg agaggaaaca ggaaacaaga ctgcgaatgg cgctcaggca
     3481 gggagcaggg agtggcgttt ggcttgcacg ttcccatgtg gccagatgct ggggccactt
     3541 tccttctgtc tgctggtgac tgcagtgttc cccctcctcc tcaccacggg gctcctgtga
     3601 gtctgggggg cacctctttc tggcctgtgc acctctctct ggcttataaa ggtgcctggc
     3661 ctgtgccagc ccctccttgt tgcgcctcac cgtggggacc aggtgagccg gctctcccac
     3721 gtggttgtcc cgggaaagct gccccacagc ctcagcatct tcagcactta ccgatccaga
     3781 gcctcccggc cttctccggt gtcctgtacc aactcttcta tttaagagaa cctcagatga
     3841 tgtacctgag cctcagggtt ttgtttcaga gggatataaa ttatttaaaa attaaatgaa
     3901 aacgttgcac actg
//
