LOCUS       NM_004613               4970 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transglutaminase 2 (TGM2), transcript variant 1, mRNA.
ACCESSION   NM_004613
VERSION     NM_004613.4
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 4970)
  AUTHORS   Jeon,H.Y., Lee,A.J., Moon,C.H. and Ha,K.S.
  TITLE     Regulation of AMPK and GAPDH by Transglutaminase 2 Plays a Pivotal
            Role in Microvascular Leakage in Diabetic Retinas
  JOURNAL   Diabetes 73 (10), 1756-1766 (2024)
   PUBMED   39024127
  REMARK    GeneRIF: Regulation of AMPK and GAPDH by Transglutaminase 2 Plays a
            Pivotal Role in Microvascular Leakage in Diabetic Retinas.
REFERENCE   2  (bases 1 to 4970)
  AUTHORS   Aplin,C., Zielinski,K.A., Pabit,S., Ogunribido,D., Katt,W.P.,
            Pollack,L., Cerione,R.A. and Milano,S.K.
  TITLE     Distinct conformational states enable transglutaminase 2 to promote
            cancer cell survival versus cell death
  JOURNAL   Commun Biol 7 (1), 982 (2024)
   PUBMED   39134806
  REMARK    GeneRIF: Distinct conformational states enable transglutaminase 2
            to promote cancer cell survival versus cell death.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4970)
  AUTHORS   Sewa,A.S., Besser,H.A., Mathews,I.I. and Khosla,C.
  TITLE     Structural and mechanistic analysis of Ca2+-dependent regulation of
            transglutaminase 2 activity using a Ca2+-bound intermediate state
  JOURNAL   Proc Natl Acad Sci U S A 121 (28), e2407066121 (2024)
   PUBMED   38959038
  REMARK    GeneRIF: Structural and mechanistic analysis of Ca[2+]-dependent
            regulation of transglutaminase 2 activity using a Ca[2+]-bound
            intermediate state.
REFERENCE   4  (bases 1 to 4970)
  AUTHORS   Buccarelli,M., Castellani,G., Fiorentino,V., Pizzimenti,C.,
            Beninati,S., Ricci-Vitiani,L., Scattoni,M.L., Mischiati,C.,
            Facchiano,F. and Tabolacci,C.
  TITLE     Biological Implications and Functional Significance of
            Transglutaminase Type 2 in Nervous System Tumors
  JOURNAL   Cells 13 (8), 667 (2024)
   PUBMED   38667282
  REMARK    GeneRIF: Biological Implications and Functional Significance of
            Transglutaminase Type 2 in Nervous System Tumors.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4970)
  AUTHORS   Zaltron,E., Vianello,F., Ruzza,A., Palazzo,A., Brillo,V.,
            Celotti,I., Scavezzon,M., Rossin,F., Leanza,L. and Severin,F.
  TITLE     The Role of Transglutaminase 2 in Cancer: An Update
  JOURNAL   Int J Mol Sci 25 (5), 2797 (2024)
   PUBMED   38474044
  REMARK    GeneRIF: The Role of Transglutaminase 2 in Cancer: An Update.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4970)
  AUTHORS   Fraij,B.M., Birckbichler,P.J., Patterson,M.K. Jr., Lee,K.N. and
            Gonzales,R.A.
  TITLE     A retinoic acid-inducible mRNA from human erythroleukemia cells
            encodes a novel tissue transglutaminase homologue
  JOURNAL   J Biol Chem 267 (31), 22616-22623 (1992)
   PUBMED   1358880
  REMARK    Erratum:[J Biol Chem 1993 Apr 25;268(12):9156]
REFERENCE   7  (bases 1 to 4970)
  AUTHORS   Lee,K.N., Maxwell,M.D., Patterson,M.K. Jr., Birckbichler,P.J. and
            Conway,E.
  TITLE     Identification of transglutaminase substrates in HT29 colon cancer
            cells: use of 5-(biotinamido)pentylamine as a
            transglutaminase-specific probe
  JOURNAL   Biochim Biophys Acta 1136 (1), 12-16 (1992)
   PUBMED   1353685
REFERENCE   8  (bases 1 to 4970)
  AUTHORS   Ando,Y., Imamura,S., Owada,M.K. and Kannagi,R.
  TITLE     Calcium-induced intracellular cross-linking of lipocortin I by
            tissue transglutaminase in A431 cells. Augmentation by membrane
            phospholipids
  JOURNAL   J Biol Chem 266 (2), 1101-1108 (1991)
   PUBMED   1670773
REFERENCE   9  (bases 1 to 4970)
  AUTHORS   Gentile,V., Saydak,M., Chiocca,E.A., Akande,O., Birckbichler,P.J.,
            Lee,K.N., Stein,J.P. and Davies,P.J.
  TITLE     Isolation and characterization of cDNA clones to mouse macrophage
            and human endothelial cell tissue transglutaminases
  JOURNAL   J Biol Chem 266 (1), 478-483 (1991)
   PUBMED   1670766
REFERENCE   10 (bases 1 to 4970)
  AUTHORS   Thacher,S.M. and Rice,R.H.
  TITLE     Keratinocyte-specific transglutaminase of cultured human epidermal
            cells: relation to cross-linked envelope formation and terminal
            differentiation
  JOURNAL   Cell 40 (3), 685-695 (1985)
   PUBMED   2578891
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY030430.1, BC003551.1,
            BQ938957.1, BQ430537.1, AK126508.1, AL031651.33 and BQ011237.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004613.3.
            
            Summary: Transglutaminases are enzymes that catalyze the
            crosslinking of proteins by epsilon-gamma glutamyl lysine
            isopeptide bonds. While the primary structure of transglutaminases
            is not conserved, they all have the same amino acid sequence at
            their active sites and their activity is calcium-dependent. The
            protein encoded by this gene acts as a monomer, is induced by
            retinoic acid, and appears to be involved in apoptosis. Finally,
            the encoded protein is the autoantigen implicated in celiac
            disease. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Both variants 1 and
            5 encode the same isoform (a).
            
            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 :: SRR1803617.250699.1, EU794665.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361475.7/ ENSP00000355330.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 HY030430.1         127-131
            6-1414              BC003551.1         18-1426
            1415-2018           BQ938957.1         135-738
            2019-2609           BQ430537.1         162-752
            2610-3891           AK126508.1         2184-3465
            3892-4825           AL031651.33        23961-24894         c
            4826-4968           BQ011237.1         18-160              c
            4969-4970           AL031651.33        23816-23817         c
FEATURES             Location/Qualifiers
     source          1..4970
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     gene            1..4970
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /note="transglutaminase 2"
                     /db_xref="GeneID:7052"
                     /db_xref="HGNC:HGNC:11778"
                     /db_xref="MIM:190196"
     exon            1..82
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..2136
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /EC_number="2.3.2.13"
                     /EC_number="3.5.1.44"
                     /note="isoform a is encoded by transcript variant 1;
                     transglutaminase C; tissue transglutaminase; TGase C;
                     protein-glutamine gamma-glutamyltransferase 2; TGase H;
                     TGase-2; transglutaminase H; C polypeptide,
                     protein-glutamine-gamma-glutamyltransferase; tTgase; TGase
                     II; hhG alpha(h); heart G alpha(h); isopeptidase TGM2;
                     protein G alpha(h); transglutaminase II; erythrocyte
                     transglutaminase; protein-glutamine deamidase TGM2;
                     protein-glutamine dopaminyltransferase TGM2;
                     protein-glutamine serotonyltransferase TGM2;
                     protein-glutamine histaminyltransferase TGM2;
                     protein-glutamine noradrenalinyltransferase TGM2"
                     /codon_start=1
                     /product="protein-glutamine gamma-glutamyltransferase 2
                     isoform a"
                     /protein_id="NP_004604.2"
                     /db_xref="CCDS:CCDS13302.1"
                     /db_xref="GeneID:7052"
                     /db_xref="HGNC:HGNC:11778"
                     /db_xref="MIM:190196"
                     /translation="MAEELVLERCDLELETNGRDHHTADLCREKLVVRRGQPFWLTLH
                     FEGRNYEASVDSLTFSVVTGPAPSQEAGTKARFPLRDAVEEGDWTATVVDQQDCTLSL
                     QLTTPANAPIGLYRLSLEASTGYQGSSFVLGHFILLFNAWCPADAVYLDSEEERQEYV
                     LTQQGFIYQGSAKFIKNIPWNFGQFEDGILDICLILLDVNPKFLKNAGRDCSRRSSPV
                     YVGRVVSGMVNCNDDQGVLLGRWDNNYGDGVSPMSWIGSVDILRRWKNHGCQRVKYGQ
                     CWVFAAVACTVLRCLGIPTRVVTNYNSAHDQNSNLLIEYFRNEFGEIQGDKSEMIWNF
                     HCWVESWMTRPDLQPGYEGWQALDPTPQEKSEGTYCCGPVPVRAIKEGDLSTKYDAPF
                     VFAEVNADVVDWIQQDDGSVHKSINRSLIVGLKISTKSVGRDEREDITHTYKYPEGSS
                     EEREAFTRANHLNKLAEKEETGMAMRIRVGQSMNMGSDFDVFAHITNNTAEEYVCRLL
                     LCARTVSYNGILGPECGTKYLLNLNLEPFSEKSVPLCILYEKYRDCLTESNLIKVRAL
                     LVEPVINSYLLAERDLYLENPEIKIRILGEPKQKRKLVAEVSLQNPLPVALEGCTFTV
                     EGAGLTEEQKTVEIPDPVEAGEEVKVRMDLLPLHMGLHKLVVNFESDKLKAVKGFRNV
                     IIGPA"
     exon            83..262
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            263..505
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            506..624
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            625..753
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            754..931
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1067
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1171
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1414
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1687
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..1848
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1849..1985
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1986..4970
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3866..3871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /note="hexamer: AATAAA"
     polyA_site      3894
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /note="major polyA site"
     regulatory      4415..4420
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /note="hexamer: AATAAA"
     polyA_site      4435
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
     regulatory      4941..4946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /note="hexamer: AATAAA"
     regulatory      4951..4956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
                     /note="hexamer: AATAAA"
     polyA_site      4963
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
     polyA_site      4970
                     /gene="TGM2"
                     /gene_synonym="G(h); hTG2; TG(C); TGC; tTG"
ORIGIN      
        1 agtgccagcc gccagtggtc gcacttggag ggtctcgccg ccagtggaag gagccaccgc
       61 ccccgcccga ccatggccga ggagctggtc ttagagaggt gtgatctgga gctggagacc
      121 aatggccgag accaccacac ggccgacctg tgccgggaga agctggtggt gcgacggggc
      181 cagcccttct ggctgaccct gcactttgag ggccgcaact acgaggccag tgtagacagt
      241 ctcaccttca gtgtcgtgac cggcccagcc cctagccagg aggccgggac caaggcccgt
      301 tttccactaa gagatgctgt ggaggagggt gactggacag ccaccgtggt ggaccagcaa
      361 gactgcaccc tctcgctgca gctcaccacc ccggccaacg cccccatcgg cctgtatcgc
      421 ctcagcctgg aggcctccac tggctaccag ggatccagct ttgtgctggg ccacttcatt
      481 ttgctcttca acgcctggtg cccagcggat gctgtgtacc tggactcgga agaggagcgg
      541 caggagtatg tcctcaccca gcagggcttt atctaccagg gctcggccaa gttcatcaag
      601 aacatacctt ggaattttgg gcagtttgaa gatgggatcc tagacatctg cctgatcctt
      661 ctagatgtca accccaagtt cctgaagaac gccggccgtg actgctcccg ccgcagcagc
      721 cccgtctacg tgggccgggt ggtgagtggc atggtcaact gcaacgatga ccagggtgtg
      781 ctgctgggac gctgggacaa caactacggg gacggcgtca gccccatgtc ctggatcggc
      841 agcgtggaca tcctgcggcg ctggaagaac cacggctgcc agcgcgtcaa gtatggccag
      901 tgctgggtct tcgccgccgt ggcctgcaca gtgctgaggt gcctgggcat ccctacccgc
      961 gtcgtgacca actacaactc ggcccatgac cagaacagca accttctcat cgagtacttc
     1021 cgcaatgagt ttggggagat ccagggtgac aagagcgaga tgatctggaa cttccactgc
     1081 tgggtggagt cgtggatgac caggccggac ctgcagccgg ggtacgaggg ctggcaggcc
     1141 ctggacccaa cgccccagga gaagagcgaa gggacgtact gctgtggccc agttccagtt
     1201 cgtgccatca aggagggcga cctgagcacc aagtacgatg cgccctttgt ctttgcggag
     1261 gtcaatgccg acgtggtaga ctggatccag caggacgatg ggtctgtgca caaatccatc
     1321 aaccgttccc tgatcgttgg gctgaagatc agcactaaga gcgtgggccg agacgagcgg
     1381 gaggatatca cccacaccta caaataccca gaggggtcct cagaggagag ggaggccttc
     1441 acaagggcga accacctgaa caaactggcc gagaaggagg agacagggat ggccatgcgg
     1501 atccgtgtgg gccagagcat gaacatgggc agtgactttg acgtctttgc ccacatcacc
     1561 aacaacaccg ctgaggagta cgtctgccgc ctcctgctct gtgcccgcac cgtcagctac
     1621 aatgggatct tggggcccga gtgtggcacc aagtacctgc tcaacctcaa cctggagcct
     1681 ttctctgaga agagcgttcc tctttgcatc ctctatgaga aataccgtga ctgccttacg
     1741 gagtccaacc tcatcaaggt gcgggccctc ctcgtggagc cagttatcaa cagctacctg
     1801 ctggctgaga gggacctcta cctggagaat ccagaaatca agatccggat ccttggggag
     1861 cccaagcaga aacgcaagct ggtggctgag gtgtccctgc agaacccgct ccctgtggcc
     1921 ctggaaggct gcaccttcac tgtggagggg gccggcctga ctgaggagca gaagacggtg
     1981 gagatcccag accccgtgga ggcaggggag gaagttaagg tgagaatgga cctgctgccg
     2041 ctccacatgg gcctccacaa gctggtggtg aacttcgaga gcgacaagct gaaggctgtg
     2101 aagggcttcc ggaatgtcat cattggcccc gcctaaggga cccctgctcc cagcctgctg
     2161 agagccccca ccttgatccc aatccttatc ccaagctagt gagcaaaata tgccccttct
     2221 tgggccccag accccagggc agggtgggca gcctatgggg gctctcggaa atggaatgtg
     2281 cccctggccc atctcagcct cctgagcctg tgggtcccca ctcaccccct ttgctgtgag
     2341 gaatgctctg tgccagaaac agtgggagcc ctgaccttgg ctgactgggg ctggggtgag
     2401 agaggaaaga cctacattcc ctctcctgcc cagatgccct ttggaaagcc attgaccacc
     2461 caccatattg tttgatctac ttcatagctc cttggagcag gcaaaaaagg gacagcatgc
     2521 cccttggctg gatcagggaa tccagctccc tagactgcat cccgtacctc ttcccatgac
     2581 tgcacccagc tccaggggcc cttgggacag ccagagctgg gtggggacag tgataggccc
     2641 aaggtcccct ccacatccca gcagcccaag cttaatagcc ctccccctca acctcaccat
     2701 tgtgaagcac ctactatgtg ctgggtgcct cccacacttg ctggggctca cggggcctcc
     2761 aacccattta atcaccatgg gaaactgttg tgggcgctgc ttccaggata aggagactga
     2821 ggcttagaga gaggaggcag ccccctccac accagtggcc tcgtggttat tagcaaggct
     2881 gggtaatgtg aaggcccaag agcagagtct gggcctctga ctctgagtcc actgctccat
     2941 ttataacccc agcctgacct gagactgtcg gagaggctgt ctggggcctt tatcaaaaaa
     3001 agactcagcc aagacaagga ggtagagagg ggactggggg actgggagtc agagccctgg
     3061 ctgggttcag gtcccacgtc tggccaggca ctgccttctc ctctctgggc ctttgtttcc
     3121 ttgttggtca gaggagtgat tgaaccagct catctccaag gatcctctcc actccatgtt
     3181 tgcaatgctt ttatatggcc cagccttgta aataaccaca aggtccactc cctgctccac
     3241 gaagccttaa gccataggcc caggatattt ctgagagtga aaccatgact gtgaccacct
     3301 tctgtcccca gccctgtcct ggttccttcc tatgcccagg taccaccctt cagaccccag
     3361 ttctagggga gaagagccct ggacacccct gctctaccca tgagcctgcc cgctgcaatg
     3421 cctagacttc ccaacagcct tagctgccag tgctggtcac taaccaacaa ggttggcacc
     3481 ccagctaccc cttctttgca gggctaaggc ccccaaacat agcccctgcc ccggaggaag
     3541 cttggggaac ccatgagttg tcagctttga ctttatctcc tgctctttct acatgactgg
     3601 gcctcccttg ggctggaaga attggggatt ctctattgga ggtgagatca cagcctccag
     3661 ggccccccaa atcccaggga aggacttgga gagaatcatg ctgttgcatt tagaactttc
     3721 tgctttgcac aggaaagagt cacacaatta atcaacatgt atattttctc tatacataga
     3781 gctctatttc tctacggttt tataaaagcc ttgggttcca accaggcagt agatgtgctt
     3841 ctgaaccgca aggagcaaac actgaaataa aatagtttat ttttcacact caaactaggt
     3901 ctggtctgtt cctttatgag tttggaggga gatgggtagg tgagctcgct cacacctgga
     3961 cccccacttc ctgcctagga gtctttcctg agcctcagcc ctgtccctgc gtttaaactt
     4021 tactggcatt caaggtccta cacaggctgg ctccatctcc ggccccttcc accaacagtc
     4081 tgtttttggg ccacaattaa cttcctgtat ccccagaaca ccctgcgtag ttgtctacct
     4141 cttggctttt gtgtatgtag ttccctgagc ctggagtgcc cctccttttc tttccctgct
     4201 tggcaaactc ctactcatcc tataatgctt aacaccaaag tcacctcttc tgtgaaacct
     4261 tccttgatat cttttcgggt ccccagagtc ctggaatatg gaccaattca aacatttatc
     4321 acagtaaatt ttacttccac gttggcctat ctgtcccctt ctccatccta tctgaagccc
     4381 tcgaggcagg gaccacgtat ctcttaaata cactaataaa tgctgaattg gtaaatgaat
     4441 gtttcctaac tcaactccca caagacctgt gctgtcccat agaaataata catgagccac
     4501 aaatgcaagc cacatatgta atttagaatt ttctagtgac cacattgaaa acagtaaaaa
     4561 agccataggt ggaattagct ttaataatgt attttattta atccaatata tccaaaacat
     4621 tatttcaaca tgtaatcaat ataagaatta gtaaggtatt tgaccttctt atttttgtac
     4681 tcaatctttg aaatgtggtg tgtgttttat actgacagca ggtctcaatt tgaactagct
     4741 gcatttcaag tgctcggtag ccagtctggc tagtactgga tgaagcaggt ctagactgcg
     4801 attccgtgga tgtgcagact tggtcattca tctcattccc caccatcgaa gcactcatga
     4861 gtatctgttg aatgaataga tgatggggac agtccccacc cttgggaagt catgtagaaa
     4921 gacatgacat gcacataaaa aataaatcaa aataaaaaca tgacatcacg
//
