LOCUS       NM_002168               2658 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens isocitrate dehydrogenase (NADP(+)) 2 (IDH2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_002168
VERSION     NM_002168.4
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 2658)
  AUTHORS   Xu,S., Cao,L., Chen,R., Ye,C., Li,Q., Jiang,Q., Yan,F., Wan,M.,
            Zhang,X. and Ruan,J.
  TITLE     Differential isocitrate dehydrogenase 1 and isocitrate
            dehydrogenase 2 mutation-related landscape in intrahepatic
            cholangiocarcinoma
  JOURNAL   Oncologist 29 (8), e1061-e1072 (2024)
   PUBMED   38842680
  REMARK    GeneRIF: Differential isocitrate dehydrogenase 1 and isocitrate
            dehydrogenase 2 mutation-related landscape in intrahepatic
            cholangiocarcinoma.
REFERENCE   2  (bases 1 to 2658)
  AUTHORS   Burgermeister,S., Stoykova,S., Krebs,F.S., Zoete,V., Mbefo,M.,
            Egervari,K., Reinhard,A., Bisig,B. and Hewer,E.
  TITLE     Methylation-Based Characterization of a New IDH2 Mutation in
            Sinonasal Undifferentiated Carcinoma
  JOURNAL   Int J Mol Sci 25 (12), 6518 (2024)
   PUBMED   38928223
  REMARK    GeneRIF: Methylation-Based Characterization of a New IDH2 Mutation
            in Sinonasal Undifferentiated Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2658)
  AUTHORS   Ikeda,S., Sakata,A., Arakawa,Y., Mineharu,Y., Makino,Y.,
            Takeuchi,Y., Fushimi,Y., Okuchi,S., Nakajima,S., Otani,S. and
            Nakamoto,Y.
  TITLE     Clinical and imaging characteristics of supratentorial glioma with
            IDH2 mutation
  JOURNAL   Neuroradiology 66 (6), 973-981 (2024)
   PUBMED   38653782
  REMARK    GeneRIF: Clinical and imaging characteristics of supratentorial
            glioma with IDH2 mutation.
            Erratum:[Neuroradiology. 2024 Jun;66(6):983. doi:
            10.1007/s00234-024-03369-0.. PMID: 38679688]
REFERENCE   4  (bases 1 to 2658)
  AUTHORS   Zhang,C., Zhou,Y., Chen,T., Bhushan,S., Sun,S., Zhang,P. and
            Yang,Y.
  TITLE     Isocitrate dehydrogenase 2 regulates the proliferation of
            triple-negative breast cancer through the ferroptosis pathway
  JOURNAL   Sci Rep 14 (1), 4732 (2024)
   PUBMED   38413708
  REMARK    GeneRIF: Isocitrate dehydrogenase 2 regulates the proliferation of
            triple-negative breast cancer through the ferroptosis pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2658)
  AUTHORS   Nayarisseri,A., Bandaru,S., Khan,A., Sharma,K., Bhrdwaj,A.,
            Kaur,M., Ghosh,D., Chopra,I., Panicker,A., Kumar,A., Saravanan,P.,
            Belapurkar,P., Mendonca Junior,F.J.B. and Singh,S.K.
  TITLE     Epigenetic dysregulation in cancers by isocitrate dehydrogenase 2
            (IDH2)
  JOURNAL   Adv Protein Chem Struct Biol 141, 223-253 (2024)
   PUBMED   38960475
  REMARK    GeneRIF: Epigenetic dysregulation in cancers by isocitrate
            dehydrogenase 2 (IDH2).
            Review article
REFERENCE   6  (bases 1 to 2658)
  AUTHORS   Champion,M.J., Brown,J.A. and Shows,T.B.
  TITLE     Assignment of cytoplasmic alpha-mannosidase (MANA) and confirmation
            of mitochondrial isocitrate dehydrogenase (IDHM) to the q11 leads
            to qter region of chromosome 15 in man
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 498-502 (1978)
   PUBMED   752528
REFERENCE   7  (bases 1 to 2658)
  AUTHORS   Shimizu,N., Giles,R.E., Kucherlapati,R.S., Shimizu,Y. and
            Ruddle,F.H.
  TITLE     Somatic cell genetic assignment of the human gene for mitochondrial
            NADP-linked isocitrate dehydrogenase to the long arm of chromosome
            15
  JOURNAL   Somatic Cell Genet 3 (1), 47-60 (1977)
   PUBMED   564083
REFERENCE   8  (bases 1 to 2658)
  AUTHORS   Grzeschik,K.H.
  TITLE     Assignment of a gene for human mitochondrial isocitrate
            dehydrogenase (ICD-M, EC 1.1.1.41) to chromosome 15
  JOURNAL   Hum Genet 34 (1), 23-28 (1976)
   PUBMED   965003
REFERENCE   9  (bases 1 to 2658)
  AUTHORS   Klimek,J., Boguslawski,W., Tialowska,B. and Zelewski,L.
  TITLE     Regulation of progesterone biosynthesis in human placental
            mitochondria by Krebs cycle metabolites
  JOURNAL   Acta Biochim Pol 23 (2-3), 185-192 (1976)
   PUBMED   970033
REFERENCE   10 (bases 1 to 2658)
  AUTHORS   Bruns,G.A., Eisenman,R.E. and Gerald,P.S.
  TITLE     Human mitochondrial NADP-dependent isocitrate dehydrogenase in
            man-mouse somatic cell hybrids
  JOURNAL   Cytogenet Cell Genet 17 (4), 200-211 (1976)
   PUBMED   11969
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312627.1, X69433.1 and
            AC087284.22.
            
            On Dec 4, 2019 this sequence version replaced NM_002168.3.
            
            Summary: Isocitrate dehydrogenases catalyze the oxidative
            decarboxylation of isocitrate to 2-oxoglutarate. These enzymes
            belong to two distinct subclasses, one of which utilizes NAD(+) as
            the electron acceptor and the other NADP(+). Five isocitrate
            dehydrogenases have been reported: three NAD(+)-dependent
            isocitrate dehydrogenases, which localize to the mitochondrial
            matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of
            which is mitochondrial and the other predominantly cytosolic. Each
            NADP(+)-dependent isozyme is a homodimer. The protein encoded by
            this gene is the NADP(+)-dependent isocitrate dehydrogenase found
            in the mitochondria. It plays a role in intermediary metabolism and
            energy production. This protein may tightly associate or interact
            with the pyruvate dehydrogenase complex. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Feb
            2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            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 :: AK222916.1, SRR11853567.10747.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000330062.8/
                                                  ENSP00000331897.4
            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
            1-1437              AK312627.1         51-1487
            1438-1725           X69433.1           1446-1733
            1726-2658           AC087284.22        2905-3837
FEATURES             Location/Qualifiers
     source          1..2658
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..2658
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /note="isocitrate dehydrogenase (NADP(+)) 2"
                     /db_xref="GeneID:3418"
                     /db_xref="HGNC:HGNC:5383"
                     /db_xref="MIM:147650"
     exon            1..193
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1437
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /EC_number="1.1.1.42"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; oxalosuccinate decarboxylase; isocitrate
                     dehydrogenase 2 (NADP+), mitochondrial; NADP(+)-specific
                     ICDH; isocitrate dehydrogenase (NADP(+)) 2, mitochondrial"
                     /codon_start=1
                     /product="isocitrate dehydrogenase [NADP], mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_002159.2"
                     /db_xref="CCDS:CCDS10359.1"
                     /db_xref="GeneID:3418"
                     /db_xref="HGNC:HGNC:5383"
                     /db_xref="MIM:147650"
                     /translation="MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYADKRI
                     KVAKPVVEMDGDEMTRIIWQFIKEKLILPHVDIQLKYFDLGLPNRDQTDDQVTIDSAL
                     ATQKYSVAVKCATITPDEARVEEFKLKKMWKSPNGTIRNILGGTVFREPIICKNIPRL
                     VPGWTKPITIGRHAHGDQYKATDFVADRAGTFKMVFTPKDGSGVKEWEVYNFPAGGVG
                     MGMYNTDESISGFAHSCFQYAIQKKWPLYMSTKNTILKAYDGRFKDIFQEIFDKHYKT
                     DFDKNKIWYEHRLIDDMVAQVLKSSGGFVWACKNYDGDVQSDILAQGFGSLGLMTSVL
                     VCPDGKTIEAEAAHGTVTRHYREHQKGRPTSTNPIASIFAWTRGLEHRGKLDGNQDLI
                     RFAQMLEKVCVETVESGAMTKDLAGCIHGLSNVKLNEHFLNTTDFLDTIKSNLDRALG
                     RQ"
     exon            194..285
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     exon            286..451
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     exon            452..612
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     exon            613..756
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     exon            757..893
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1045
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1158
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..1256
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1349
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..2658
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1705..1710
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /note="hexamer: ACTAAA"
     polyA_site      1725
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /note="major polyA site"
     regulatory      2624..2629
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
                     /note="hexamer: AATAAA"
     polyA_site      2658
                     /gene="IDH2"
                     /gene_synonym="D2HGA2; ICD-M; IDH; IDH-2; IDHM; IDP; IDPM;
                     mNADP-IDH"
ORIGIN      
        1 agcccgcggc caggcagccg ggaggagcgg cgcgcgctcg gacctctccc gccctgctcg
       61 ttcgctctcc agcttgggat ggccggctac ctgcgggtcg tgcgctcgct ctgcagagcc
      121 tcaggctcgc ggccggcctg ggcgccggcg gccctgacag cccccacctc gcaagagcag
      181 ccgcggcgcc actatgccga caaaaggatc aaggtggcga agcccgtggt ggagatggat
      241 ggtgatgaga tgacccgtat tatctggcag ttcatcaagg agaagctcat cctgccccac
      301 gtggacatcc agctaaagta ttttgacctc gggctcccaa accgtgacca gactgatgac
      361 caggtcacca ttgactctgc actggccacc cagaagtaca gtgtggctgt caagtgtgcc
      421 accatcaccc ctgatgaggc ccgtgtggaa gagttcaagc tgaagaagat gtggaaaagt
      481 cccaatggaa ctatccggaa catcctgggg gggactgtct tccgggagcc catcatctgc
      541 aaaaacatcc cacgcctagt ccctggctgg accaagccca tcaccattgg caggcacgcc
      601 catggcgacc agtacaaggc cacagacttt gtggcagacc gggccggcac tttcaaaatg
      661 gtcttcaccc caaaagatgg cagtggtgtc aaggagtggg aagtgtacaa cttccccgca
      721 ggcggcgtgg gcatgggcat gtacaacacc gacgagtcca tctcaggttt tgcgcacagc
      781 tgcttccagt atgccatcca gaagaaatgg ccgctgtaca tgagcaccaa gaacaccata
      841 ctgaaagcct acgatgggcg tttcaaggac atcttccagg agatctttga caagcactat
      901 aagaccgact tcgacaagaa taagatctgg tatgagcacc ggctcattga tgacatggtg
      961 gctcaggtcc tcaagtcttc gggtggcttt gtgtgggcct gcaagaacta tgacggagat
     1021 gtgcagtcag acatcctggc ccagggcttt ggctcccttg gcctgatgac gtccgtcctg
     1081 gtctgccctg atgggaagac gattgaggct gaggccgctc atgggaccgt cacccgccac
     1141 tatcgggagc accagaaggg ccggcccacc agcaccaacc ccatcgccag catctttgcc
     1201 tggacacgtg gcctggagca ccgggggaag ctggatggga accaagacct catcaggttt
     1261 gcccagatgc tggagaaggt gtgcgtggag acggtggaga gtggagccat gaccaaggac
     1321 ctggcgggct gcattcacgg cctcagcaat gtgaagctga acgagcactt cctgaacacc
     1381 acggacttcc tcgacaccat caagagcaac ctggacagag ccctgggcag gcagtagggg
     1441 gaggcgccac ccatggctgc agtggagggg ccagggctga gccggcgggt cctcctgagc
     1501 gcggcagagg gtgagcctca cagcccctct ctggaggcct ttctagggga tgttttttta
     1561 taagccagat gtttttaaaa gcatatgtgt gtttcccctc atggtgacgt gaggcaggag
     1621 cagtgcgttt tacctcagcc agtcagtatg ttttgcatac tgtaatttat attgcccttg
     1681 gaacacatgg tgccatattt agctactaaa aagctcttca caaaattgtc tgctgtgttt
     1741 gtccctgagg ggaggaggta gtgggaccct gaggcagagg ccctgctaga gctggcaggt
     1801 tcccctgggg cagaccagag cacctcagga aggggctgcc acggcaggga agggaccagg
     1861 cagccctggg agcccgcatt ccacaggggc ccactgcgga gttctcggac actcagggca
     1921 caggcctgtg ggttccctgg aattttctag catgatccag tttctgtgtc cagttctcca
     1981 ttctgagagt caatcagttc ctgataggtt gtcattgatt tttttcttcg ttggttttaa
     2041 ccttctaaac atctccaggc cactttctta gcctttttct aggtactaaa aagaggtcct
     2101 acccacacct gcctcacact tctcctttcc aaggctgcct gagtttggag gggcttgggt
     2161 gtgtgtgaac aagggccctg cattgtctag gcctgcagtt cccaggcttg ggttcacttt
     2221 caccatgcat tggcaaaact agaaaagtaa gcttgtgaca aattgttctc ggccgggcac
     2281 agtggcgcac gcctataatc cctgtacttt gggaggctga ggtgggtgga tcacttgagg
     2341 ccaggagttc gagaccagcc tggccaacat ggtgaaaccc catctctact caaaatacaa
     2401 aaattagcca ggcgtggtga tgcgcacctg cagtcccagc tactcgggag gctgaggcag
     2461 gaaaatggct tgaacctggg aggcagaggt tgcagtgagc cgagactgca ccactgcact
     2521 ccagcctggg tgacagagca agactctgtc tcaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     2581 aaattgctct atgcaagttt tttagcccca tgtaaaaagg aaaaataaaa gttgctctaa
     2641 agctacatat aatcaaaa
//
