LOCUS       NM_001292034            4363 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens TGF-beta activated kinase 1 (MAP3K7) binding protein 2
            (TAB2), transcript variant 3, mRNA.
ACCESSION   NM_001292034
VERSION     NM_001292034.3
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 4363)
  AUTHORS   Zhang,J., Cao,L., Gao,A., Ren,R., Yu,L., Li,Q., Liu,Y., Qi,W.,
            Hou,Y., Sui,W., Su,G., Zhang,Y., Zhang,C. and Zhang,M.
  TITLE     E3 ligase RNF99 negatively regulates TLR-mediated inflammatory
            immune response via K48-linked ubiquitination of TAB2
  JOURNAL   Cell Death Differ 30 (4), 966-978 (2023)
   PUBMED   36681779
REFERENCE   2  (bases 1 to 4363)
  AUTHORS   Koene,S., Klerx-Melis,F., Roest,A.A.W., Kleijwegt,M.C., Bootsma,M.,
            Haak,M.C., van Haeringen,M.H., Ruivenkamp,C.A.L., Nibbeling,E.A.R.
            and van Haeringen,A.
  TITLE     Sacral abnormalities including caudal appendage, skeletal
            dysplasia, and prenatal cardiomyopathy associated with a pathogenic
            TAB2 variant in a 3-generation family
  JOURNAL   Am J Med Genet A 188 (12), 3510-3515 (2022)
   PUBMED   36000780
  REMARK    GeneRIF: Sacral abnormalities including caudal appendage, skeletal
            dysplasia, and prenatal cardiomyopathy associated with a pathogenic
            TAB2 variant in a 3-generation family.
REFERENCE   3  (bases 1 to 4363)
  AUTHORS   Woods,E., Marson,I., Coci,E., Spiller,M., Kumar,A., Brady,A.,
            Homfray,T., Fisher,R., Turnpenny,P., Rankin,J., Kanani,F.,
            Platzer,K., Ververi,A., Emmanouilidou,E., Bourboun,N.,
            Giannakoulas,G. and Balasubramanian,M.
  TITLE     Expanding the phenotype of TAB2 variants and literature review
  JOURNAL   Am J Med Genet A 188 (11), 3331-3342 (2022)
   PUBMED   35971781
  REMARK    GeneRIF: Expanding the phenotype of TAB2 variants and literature
            review.
REFERENCE   4  (bases 1 to 4363)
  AUTHORS   Liu,H., Zhang,H., Fan,H., Tang,S. and Weng,J.
  TITLE     TAB2 Promotes the Biological Functions of Head and Neck Squamous
            Cell Carcinoma Cells via EMT and PI3K Pathway
  JOURNAL   Dis Markers 2022, 1217918 (2022)
   PUBMED   35978886
  REMARK    GeneRIF: TAB2 Promotes the Biological Functions of Head and Neck
            Squamous Cell Carcinoma Cells via EMT and PI3K Pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4363)
  AUTHORS   Su,M., Li,Z.L., Song,Y.P., Wang,Y.Y., Zhou,B. and Li,Q.
  TITLE     [Association Between TAB2 Gene Polymorphisms and Susceptibility to
            Cryptorchidism in Han Chinese Population in Southwest China]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 53 (4), 642-648 (2022)
   PUBMED   35871735
  REMARK    GeneRIF: [Association Between TAB2 Gene Polymorphisms and
            Susceptibility to Cryptorchidism in Han Chinese Population in
            Southwest China].
REFERENCE   6  (bases 1 to 4363)
  AUTHORS   Takaesu,G., Kishida,S., Hiyama,A., Yamaguchi,K., Shibuya,H.,
            Irie,K., Ninomiya-Tsuji,J. and Matsumoto,K.
  TITLE     TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK
            by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway
  JOURNAL   Mol Cell 5 (4), 649-658 (2000)
   PUBMED   10882101
REFERENCE   7  (bases 1 to 4363)
  AUTHORS   Lee,R.J., Albanese,C., Stenger,R.J., Watanabe,G., Inghirami,G.,
            Haines,G.K. 3rd, Webster,M., Muller,W.J., Brugge,J.S., Davis,R.J.
            and Pestell,R.G.
  TITLE     pp60(v-src) induction of cyclin D1 requires collaborative
            interactions between the extracellular signal-regulated kinase,
            p38, and Jun kinase pathways. A role for cAMP response
            element-binding protein and activating transcription factor-2 in
            pp60(v-src) signaling in breast cancer cells
  JOURNAL   J Biol Chem 274 (11), 7341-7350 (1999)
   PUBMED   10066798
REFERENCE   8  (bases 1 to 4363)
  AUTHORS   Arch,R.H., Gedrich,R.W. and Thompson,C.B.
  TITLE     Tumor necrosis factor receptor-associated factors (TRAFs)--a family
            of adapter proteins that regulates life and death
  JOURNAL   Genes Dev 12 (18), 2821-2830 (1998)
   PUBMED   9744859
  REMARK    Review article
REFERENCE   9  (bases 1 to 4363)
  AUTHORS   Deacon,K. and Blank,J.L.
  TITLE     Characterization of the mitogen-activated protein kinase kinase 4
            (MKK4)/c-Jun NH2-terminal kinase 1 and MKK3/p38 pathways regulated
            by MEK kinases 2 and 3. MEK kinase 3 activates MKK3 but does not
            cause activation of p38 kinase in vivo
  JOURNAL   J Biol Chem 272 (22), 14489-14496 (1997)
   PUBMED   9162092
REFERENCE   10 (bases 1 to 4363)
  AUTHORS   Shibuya,H., Yamaguchi,K., Shirakabe,K., Tonegawa,A., Gotoh,Y.,
            Ueno,N., Irie,K., Nishida,E. and Matsumoto,K.
  TITLE     TAB1: an activator of the TAK1 MAPKKK in TGF-beta signal
            transduction
  JOURNAL   Science 272 (5265), 1179-1182 (1996)
   PUBMED   8638164
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138727.10, AB018276.2 and
            BC035910.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001292034.2.
            
            Summary: The protein encoded by this gene is an activator of
            MAP3K7/TAK1, which is required for for the IL-1 induced activation
            of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase
            complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an
            adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1
            and MAP3K7, also participates in the signal transduction induced by
            TNFSF11/RANKl through the activation of the receptor activator of
            NF-kappaB (TNFRSF11A/RANK), which may regulate the development and
            function of osteoclasts. Studies of the related mouse protein
            indicate that it functions to protect against liver damage caused
            by chemical stressors. Mutations in this gene cause congenital
            heart defects, multiple types, 2 (CHTD2). Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, May
            2014].
            
            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 :: SRR18074969.1331247.1,
                                           SRR14038195.1545882.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153031, SAMEA2153980
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000637181.2/ ENSP00000490618.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-215               AL138727.10        57151-57365         c
            216-266             AB018276.2         1-51
            267-4363            BC035910.2         10-4106
FEATURES             Location/Qualifiers
     source          1..4363
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     gene            1..4363
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /note="TGF-beta activated kinase 1 (MAP3K7) binding
                     protein 2"
                     /db_xref="GeneID:23118"
                     /db_xref="HGNC:HGNC:17075"
                     /db_xref="MIM:605101"
     exon            1..304
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /inference="alignment:Splign:2.1.0"
     exon            305..495
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             394..2475
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /note="isoform a is encoded by transcript variant 3;
                     TAK1-binding protein 2; mitogen-activated protein kinase
                     kinase kinase 7-interacting protein 2"
                     /codon_start=1
                     /product="TGF-beta-activated kinase 1 and MAP3K7-binding
                     protein 2 isoform a"
                     /protein_id="NP_001278963.1"
                     /db_xref="CCDS:CCDS5214.1"
                     /db_xref="GeneID:23118"
                     /db_xref="HGNC:HGNC:17075"
                     /db_xref="MIM:605101"
                     /translation="MAQGSHQIDFQVLHDLRQKFPEVPEVVVSRCMLQNNNNLDACCA
                     VLSQESTRYLYGEGDLNFSDDSGISGLRNHMTSLNLDLQSQNIYHHGREGSRMNGSRT
                     LTHSISDGQLQGGQSNSELFQQEPQTAPAQVPQGFNVFGMSSSSGASNSAPHLGFHLG
                     SKGTSSLSQQTPRFNPIMVTLAPNIQTGRNTPTSLHIHGVPPPVLNSPQGNSIYIRPY
                     ITTPGGTTRQTQQHSGWVSQFNPMNPQQVYQPSQPGPWTTCPASNPLSHTSSQQPNQQ
                     GHQTSHVYMPISSPTTSQPPTIHSSGSSQSSAHSQYNIQNISTGPRKNQIEIKLEPPQ
                     RNNSSKLRSSGPRTSSTSSSVNSQTLNRNQPTVYIAASPPNTDELMSRSQPKVYISAN
                     AATGDEQVMRNQPTLFISTNSGASAASRNMSGQVSMGPAFIHHHPPKSRAIGNNSATS
                     PRVVVTQPNTKYTFKITVSPNKPPAVSPGVVSPTFELTNLLNHPDHYVETENIQHLTD
                     PTLAHVDRISETRKLSMGSDDAAYTQALLVHQKARMERLQRELEIQKKKLDKLKSEVN
                     EMENNLTRRRLKRSNSISQIPSLEEMQQLRSCNRQLQIDIDCLTKEIDLFQARGPHFN
                     PSAIHNFYDNIGFVGPVPPKPKDQRSIIKTPKTQDTEDDEGAQWNCTACTFLNHPALI
                     RCEQCEMPRHF"
     exon            496..1996
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1997..2157
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2158..2251
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2252..2332
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2333..4363
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4255..4260
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /note="hexamer: AATAAA"
     polyA_site      4272
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /note="major polyA site"
     regulatory      4343..4348
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /note="hexamer: ATTAAA"
     polyA_site      4363
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /note="major polyA site"
ORIGIN      
        1 gtcgtttttg atctgctgca gccgccggcg gggcgaccca gcccgacccc ctcccctccc
       61 cctcagccag gagcggtggc ggcggcggcg gccggaggga gttggcggcg gcgggcgagc
      121 ggagggggct gagcggggag ggagggaggg ctgaggtgtc ccccctgccg ggtggaaccg
      181 gaggcggcgg cggcgctggc ggcggccgtg gtggcggagg cgacggtgga gacggctgcc
      241 ctagtgggag aggcggcggc ggcggcggcc gaggaggagg agggggaagc ggcggcggca
      301 aaggaaaatg cttggacaga agagatgagt actatttcca ctaaggccta gaattgccta
      361 ctgtacaaat agtcctgatc aggcaatata cgaatggccc aaggaagcca ccaaattgat
      421 tttcaggttt tacatgacct gcgacaaaaa ttccctgaag tacctgaagt tgttgtatcc
      481 aggtgcatgt tacagaataa taataacctg gatgcctgct gtgctgttct ctctcaggag
      541 agtacaagat atctttatgg tgaaggagac ttgaattttt cagatgattc tggaatttct
      601 ggtctacgca atcacatgac ttctctcaac ttggacttgc aatcacagaa catttaccac
      661 catggaagag aaggaagtag gatgaatgga agtaggactc taacgcacag cattagtgat
      721 ggacaacttc aaggtggcca gtccaatagt gaactatttc agcaggagcc acagacagca
      781 ccagctcaag ttcctcaagg ctttaatgtt tttggaatgt ccagttcctc tggtgcttca
      841 aattcagcac cacatcttgg atttcactta ggcagcaaag gaacatctag cctttctcaa
      901 caaactccca gatttaatcc cattatggta actttagccc caaatatcca gactggtcgt
      961 aatactccta catctttgca catacatggt gtacctccac ctgtacttaa cagtccacag
     1021 ggaaattcta tctatattag gccttacatt acaactcctg gtggtacaac tcgacagaca
     1081 caacagcatt ctggctgggt atctcagttt aatcccatga accctcagca agtttatcag
     1141 ccttcacagc ctggtccctg gactacttgt cctgcatcta atcctctgtc acatacctca
     1201 tctcaacagc caaatcagca aggccaccag acctctcatg tctacatgcc aatcagttca
     1261 cctactactt cacaaccacc aaccattcat tcatctggta gctcacagtc ttctgcccat
     1321 agccaatata acattcagaa tatttcaaca ggacctcgaa aaaaccagat tgaaatcaaa
     1381 cttgaacccc cacaaagaaa taattcttca aaactgcgtt cttctggacc tcgaacctcc
     1441 agcacttcct cttcagtcaa tagccagacc ttaaacagaa atcagcccac tgtttacata
     1501 gctgccagcc ccccaaatac ggatgagctg atgtcccgta gtcaacctaa ggtctatatt
     1561 tcagcgaatg ctgccacagg agatgaacag gtcatgcgga atcagcccac actcttcata
     1621 tccacaaact ctggagcatc tgctgcctcc aggaacatgt ctgggcaagt gagcatgggt
     1681 cctgccttta ttcatcacca tcctcccaaa agtcgagcaa taggcaataa ctctgcaacc
     1741 tctcctcgag tggtagtcac tcagcccaat acgaaataca ctttcaaaat tacagtctct
     1801 cccaataagc cccctgcagt ttcaccaggg gtggtgtccc ctacctttga acttacaaat
     1861 cttcttaatc atcctgatca ttatgtagaa accgagaata ttcagcacct cacggaccct
     1921 acattagcac atgtggatag aataagtgaa acacggaaac tgagtatggg atctgatgat
     1981 gctgcctaca cacaagctct tttggtacac cagaaggcca gaatggaacg acttcaaaga
     2041 gaacttgaga ttcaaaagaa aaagctggat aaattaaaat ctgaggttaa tgaaatggaa
     2101 aataatctaa ctcgaaggcg cctgaaaaga tcaaattcta tatcccagat accttccctt
     2161 gaagaaatgc agcagctgag aagttgtaat agacaactcc agattgacat tgactgctta
     2221 accaaagaaa ttgatctttt tcaagcccga ggaccacatt ttaaccccag cgctattcat
     2281 aacttttatg acaatattgg atttgtaggt cctgtgccac caaaacccaa agatcaaagg
     2341 tccatcatca aaacaccaaa gactcaagac acagaagatg atgagggagc tcagtggaat
     2401 tgtaccgcct gtactttttt gaaccatcca gccttaattc gctgtgaaca gtgtgagatg
     2461 ccaaggcatt tctgagccaa atggccctgt atcttctcta aaaccacatc taaagttcaa
     2521 gaaactagtc tgtcatcggg aaaaagtttc actgctacat aggattttgt caaattgaag
     2581 gtgtgacaag atggtgttct gctaatgtta aatgtcagcc cacagagcta ataatacctc
     2641 agtataatgt catgagcagt tgaaattcat cacatgaaaa gtaatctgct gaaagacttg
     2701 gttgcccact gcctaactgt gtacagtgtt accagtgtcc cattatggat aattctcaat
     2761 atgttaacac ctaggtgttc ccaatacctt tttcccctca tgtcactact gaattttgac
     2821 aggaggaagg aatagaatga tagcttgttt tatttgtaaa gctttcagtg aaacactaca
     2881 tacacgaaga aaaggaacaa ggtttaacta tttaagaacc atttgctgcc gcatagtgcc
     2941 attggatagg gaagaacttc agaaatctgt ggtactcttg gccttgtctt tgtcttccct
     3001 gaacgtgtct ccactctgtg aagccagcat ctaggggcta aagatgcaaa ggaaagcagc
     3061 atgcattgtc tgtacaaatg tgcagcgaaa taccccaaag cttttcctac tgtacagatc
     3121 tctcgagtct gctttaagtg atttcttttc ttcttgatta ttttcttata tttctatatg
     3181 tatagtgtaa tagccttttg ttaactaatt ttcttttttc cttttagtaa ttaagcacga
     3241 tcatgtccct ttttaagcct tacctgagag gaacaatgcc ttaaaataaa aaagcattaa
     3301 tgagatgaaa gtatgcacag aataactttc ctctacttat tctgtacttt gccctcatga
     3361 gttccaatgt tgtgtgaaga caggcagatg ctgcacagtg aattgcagat gatattacag
     3421 aagtgatgtc tgtaggtcac attaaatact gacttgagca gtgggtgaca caacacagtg
     3481 tttgtcttcc acagggaagc ttaaaacaaa agatattttt aacccactga cagaacaaca
     3541 aggttaagct tcatctgctt ggtgtcccac agaacttgca caagcagttg ttattgggaa
     3601 agtacagtct caaaaccagc aacagcagca gtacctacag cccttttttt ggagagaagt
     3661 ttaaatgctt tactgttggg gcagtccatt tctaatcctg acttggtgac agtatcatgt
     3721 gtatttataa aacaaggcta gccatattta ggacaactga agaaaagctg gaaaaaaaaa
     3781 caagcaaact tgaacactga agcaacctca agcatctctt tattttgatg atatattttt
     3841 gtaaggaaaa tattcagatg atcaggaatg tatataactg aaatcaagaa aaagaacagt
     3901 atgcatttaa aaagacagaa ttatgaaatt atatgagtgc ttagaatggg gctaagggaa
     3961 gtgctgaaat agagcaaagg atggaagata atatagacta ccacccactg taaatgtttg
     4021 caagtggctg tgttttaaat gggattatta cagttgatct ctatgaatgt cagagcccta
     4081 actttcaggc tttgcatttt gtatatggga agaaatatga caatcctagg taattaaacc
     4141 atagacccaa agcccttacg tttgatgcaa tttattttta aaataggcct tgtttttcag
     4201 cttcatctgc agttctatgt gaagattgat aaatcagttt ttacttgttt tattaataaa
     4261 acgtaatttg gatatcttga gttgatggtt ttgtgattta gctgggtaaa ctatctttgt
     4321 aacagataag ttatttataa aaattaaaaa acttatattc taa
//
