LOCUS       NM_001387430            4908 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 9,
            mRNA.
ACCESSION   NM_001387430
VERSION     NM_001387430.1
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 4908)
  AUTHORS   Huang,T., Zhang,X., Li,Q., Li,X., Yao,J., Song,J., Chen,Y., Ye,L.,
            Li,C., Xiran,P. and Wen,Y.
  TITLE     The Association between Obesity Susceptibility and Polymorphisms of
            MC4R, SH2B1, and NEGR1 in Tibetans
  JOURNAL   Genet Test Mol Biomarkers 28 (7), 267-274 (2024)
   PUBMED   39034913
  REMARK    GeneRIF: The Association between Obesity Susceptibility and
            Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.
REFERENCE   2  (bases 1 to 4908)
  AUTHORS   Hanssen,R., Auwerx,C., Joeloo,M., Sadler,M.C., Henning,E.,
            Keogh,J., Bounds,R., Smith,M., Firth,H.V., Kutalik,Z.,
            Farooqi,I.S., Reymond,A. and Lawler,K.
  CONSRTM   Estonian Biobank Research Team
  TITLE     Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated
            with accelerated metabolic disease
  JOURNAL   Cell Rep Med 4 (8), 101155 (2023)
   PUBMED   37586323
  REMARK    GeneRIF: Chromosomal deletions on 16p11.2 encompassing SH2B1 are
            associated with accelerated metabolic disease.
REFERENCE   3  (bases 1 to 4908)
  AUTHORS   da Fonseca,A.C.P., Assis,I.S.S., Salum,K.C.R., Palhinha,L.,
            Abreu,G.M., Zembrzuski,V.M., Campos Junior,M., Nogueira Neto,J.F.,
            Mattos,F.C.C., Cambraia,A., Rosado,E.L., Maya-Monteiro,C.M.,
            Cabello,P.H., Carneiro,J.R.I. and Bozza,P.T.
  TITLE     SH2B1 variants as potential causes of non-syndromic monogenic
            obesity in a Brazilian cohort
  JOURNAL   Eat Weight Disord 27 (8), 3665-3674 (2022)
   PUBMED   36436143
  REMARK    GeneRIF: SH2B1 variants as potential causes of non-syndromic
            monogenic obesity in a Brazilian cohort.
REFERENCE   4  (bases 1 to 4908)
  AUTHORS   Giannopoulou,E.Z., Zorn,S., Schirmer,M., Herrmann,G., Heger,S.,
            Reinehr,T., Denzer,C., Rabenstein,H., Hillmer,M., Sowada,N.,
            Siebert,R., von Schnurbein,J. and Wabitsch,M.
  TITLE     Genetic Obesity in Children: Overview of Possible Diagnoses with a
            Focus on SH2B1 Deletion
  JOURNAL   Horm Res Paediatr 95 (2), 137-148 (2022)
   PUBMED   34689140
  REMARK    GeneRIF: Genetic Obesity in Children: Overview of Possible
            Diagnoses with a Focus on SH2B1 Deletion.
REFERENCE   5  (bases 1 to 4908)
  AUTHORS   Wu,B., Ren,A., Tian,Y. and Huang,R.
  TITLE     Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1 in
            Endometrial Carcinoma
  JOURNAL   Technol Cancer Res Treat 19, 1533033820983079 (2020)
   PUBMED   33356989
  REMARK    GeneRIF: Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1
            in Endometrial Carcinoma.
REFERENCE   6  (bases 1 to 4908)
  AUTHORS   Jamshidi,Y., Snieder,H., Ge,D., Spector,T.D. and O'Dell,S.D.
  TITLE     The SH2B gene is associated with serum leptin and body fat in
            normal female twins
  JOURNAL   Obesity (Silver Spring) 15 (1), 5-9 (2007)
   PUBMED   17228025
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4908)
  AUTHORS   Jones,R.B., Gordus,A., Krall,J.A. and MacBeath,G.
  TITLE     A quantitative protein interaction network for the ErbB receptors
            using protein microarrays
  JOURNAL   Nature 439 (7073), 168-174 (2006)
   PUBMED   16273093
REFERENCE   8  (bases 1 to 4908)
  AUTHORS   Nishi,M., Werner,E.D., Oh,B.C., Frantz,J.D., Dhe-Paganon,S.,
            Hansen,L., Lee,J. and Shoelson,S.E.
  TITLE     Kinase activation through dimerization by human SH2-B
  JOURNAL   Mol Cell Biol 25 (7), 2607-2621 (2005)
   PUBMED   15767667
  REMARK    GeneRIF: SH2-B or APS homodimerization and SH2-B/APS
            heterodimerization thus provide direct mechanisms for activating
            and inhibiting Janus kinase 2
REFERENCE   9  (bases 1 to 4908)
  AUTHORS   Kong,M., Wang,C.S. and Donoghue,D.J.
  TITLE     Interaction of fibroblast growth factor receptor 3 and the adapter
            protein SH2-B. A role in STAT5 activation
  JOURNAL   J Biol Chem 277 (18), 15962-15970 (2002)
   PUBMED   11827956
REFERENCE   10 (bases 1 to 4908)
  AUTHORS   Kotani,K., Wilden,P. and Pillay,T.S.
  TITLE     SH2-Balpha is an insulin-receptor adapter protein and substrate
            that interacts with the activation loop of the insulin-receptor
            kinase
  JOURNAL   Biochem J 335 (Pt 1) (Pt 1), 103-109 (1998)
   PUBMED   9742218
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC133550.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the SH2-domain containing
            mediators family. The encoded protein mediates activation of
            various kinases and may function in cytokine and growth factor
            receptor signaling and cellular transformation. Alternatively
            spliced transcript variants have been described. [provided by
            RefSeq, Mar 2009].
            
            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 :: SRR18074968.2144626.1,
                                           SRR3476690.139313.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000684370.1/ ENSP00000507475.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3191              AC133550.2         20809-23999         c
            3192-3293           AC133550.2         20410-20511         c
            3294-3385           AC133550.2         18745-18836         c
            3386-3561           AC133550.2         18459-18634         c
            3562-3765           AC133550.2         15859-16062         c
            3766-3977           AC133550.2         15441-15652         c
            3978-4149           AC133550.2         15137-15308         c
            4150-4908           AC133550.2         13637-14395         c
FEATURES             Location/Qualifiers
     source          1..4908
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..4908
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /note="SH2B adaptor protein 1"
                     /db_xref="GeneID:25970"
                     /db_xref="HGNC:HGNC:30417"
                     /db_xref="MIM:608937"
     exon            1..3191
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             2253..4523
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /note="isoform 1 is encoded by transcript variant 9; SH2
                     domain-containing protein 1B; pro-rich, PH and SH2
                     domain-containing signaling mediator; SH2-B signaling
                     protein; SH2 domain-containing putative adapter SH2-B"
                     /codon_start=1
                     /product="SH2B adapter protein 1 isoform 1"
                     /protein_id="NP_001374359.1"
                     /db_xref="CCDS:CCDS53996.1"
                     /db_xref="GeneID:25970"
                     /db_xref="HGNC:HGNC:30417"
                     /db_xref="MIM:608937"
                     /translation="MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARR
                     FRLYLASHPQYAGPGAEAAFSRRFAELFLQHFEAEVARASGSLSPPILAPLSPGAEIS
                     PHDLSLESCRVGGPLAVLGPSRSSEDLAGPLPSSVSSSSTTSSKPKLKKRFSLRSVGR
                     SVRGSVRGILQWRGTVDPPSSAGPLETSSGPPVLGGNSNSNSSGGAGTVGRGLVSDGT
                     SPGERWTHRFERLRLSRGGGALKDGAGMVQREELLSFMGAEEAAPDPAGVGRGGGVAG
                     PPSGGGGQPQWQKCRLLLRSEGEGGGGSRLEFFVPPKASRPRLSIPCSSITDVRTTTA
                     LEMPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPL
                     APGTSFLTRENTDSLELSCLNHSESLPSQDLLLGPSESNDRLSQGAYGGLSDRPSASI
                     SPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPLSAPYPPLDTPETATGSFL
                     FQGEPEGGEGDQPLSGYPWFHGMLSRLKAAQLVLTGGTGSHGVFLVRQSETRRGEYVL
                     TFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDMLEHFRVHPIPLESGGSSDVVLVSY
                     VPSSQRQQEPTTSHDPPQPPEPPSWTDPPQPGAEEASRAPEVAAAAAAAAKERQEKEK
                     AGGGGVPEELVPVVELVPVVELEEAIAPGSEAQGAGSGGDAGVPPMVQLQQSPLGGDG
                     EEGGHPRAINNQYSFV"
     exon            3192..3293
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            3294..3385
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            3386..3561
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            3562..3765
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            3766..3977
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            3978..4149
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            4150..4908
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4886..4891
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /note="hexamer: AATAAA"
     polyA_site      4908
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /note="major polyA site"
ORIGIN      
        1 gaaccgggct gggcgctcgt cgcgtagtgg gtgggggcgc agggagcggg agccgccgcc
       61 gccgccgccg ccgccggagc taacctcggg gaccgagatg caggtgggac cggaaccgga
      121 acccccctct tcaagtacct tttccctctc cgcgacccgg ccctggcgcc cgagaggatt
      181 cctgggtggg ggtgggcgtg gagggccggg ggctggagag gcactcggcc ccggagagtg
      241 cagcagacag ggctggtccc gaggtggatg cggccccgga aaatgggcgg ctggggggtg
      301 tccagggagt agggtcggat cggagtatat ggaccaccgg gcccggaggg tccgagccga
      361 gagcggagcc tgcaccctcc acctcccgcc cttcgggaaa tatcagaact gagccaggag
      421 gcaggtgcac cgggaaaatg tgtctgagtc ctgcttggca gaagagaaac tgagtcacca
      481 gcttaggagt cgcagggtca gcgggcctga agggggctgg gtctgtctgc ggtgcggagg
      541 attgggtggg cctgtgtgag ccgaggtggc cgctggctgg agattggttt gcacttcttg
      601 gctgggttcc cccgtgctcc atgactcctg catctcctga ttgtttctcg ttggtttgga
      661 gttgtccctg cggttggagc catctgagct tgtagggtcg aggcccagga ggaaggggag
      721 ggttcaccga cttacagcct ggctgtaggt ttgaacagga gtctgaggtc gctgagggtt
      781 tggggaggct ttcctgagct gctctggccc cagtcctggg gctgtcacct tccagtattg
      841 cgtggcggga ggagcgctaa caagagccaa gggttgtaaa ttccacaccc agctctgcca
      901 ctttctagtt gtaagacctt gagagggctc ctcctttctc taatttctat tttagaaaat
      961 tggaacaata atattcttct cccacatgaa gatagtaaca atggcagtcg ttcagcggat
     1021 gcttactttg cgttcagcgc tgacataccc cattccatgt aattctctca acatttcgag
     1081 gggagggatc attagctttg tttaacagat agaaaaacgg aggctcagag aggacgtgga
     1141 atttgttcaa gataacatcg ctcataaggt ggctggactg ggtgctcata aggtggtttg
     1201 agccctggtc tgactcaagt ccatggcctt aaccagaagg ctaacctgcc tttagggcat
     1261 actccccagt gggagaagag gaaggtgaaa aatcctaggg ccccagctct ccctgtgatg
     1321 ttttgtttac gtgaggccag caaagacttg acctgagcca acccagtttc tcctctgggg
     1381 cccctgcggc ctctggcccc agactgaagg gataccaaag aagtgggctg tagctatttc
     1441 acatctcctt cacgcagtgc gtgggtgctg gactctgggg tcagctttca agacaattac
     1501 tgttttggtc catcatgcat ccatcctcat taatgaatcg gccccctcca aagagttgga
     1561 ccctaagatg cgtgaggcag gctctctaag gtctagaatc ccagctcctc tctagccccc
     1621 tgcgagctgg ggcggtgagg tgctatggct gaggctggcc cagccgggcc ctggggacag
     1681 ggactatgaa gtggggaaaa cagtagactt ggagttctga aacttttctg agcttcggtt
     1741 tcctcatctg ttcgagaggt ctttgaaacc tctcagggaa aggtaagata accaagtggg
     1801 agcctctaga atggctcatg ggaagtgtga catgaatatt ggaggatccg atgtagaggg
     1861 ggggtgatct ggaaaagttc ccttttttag ggggaaggtg ctccaaagcc ctctactgct
     1921 ggatccaaag ctaaggaaag tgggggcaaa tgtggcaggc tcggggcagg ttagacgctg
     1981 gggagccagt tggctggggc ctgcagggtg ccaggatctg ggagagggaa gggaggtgtt
     2041 gggctccctt ccccattgct ctctgcggag tctgaagtag ggtcggacgt ctctggctgg
     2101 gggtgggatg cagcctccgg tgcgccctca gcagtgaccc tcgtgtgtgc ctctctcttc
     2161 ctttcgcagc tgctgccgcc cacccctcgt cttctggctg cctccctctt tgtgccccac
     2221 aggctccccc tctccacctc ctggggccca tcatgaatgg tgccccttcc ccagaggacg
     2281 gggcctcccc ctcgtctccc ccgctgcccc cacccccgcc ccctagttgg cgggagttct
     2341 gtgagtccca cgcccgggct gcggctctgg actttgcccg ccgttttcgc ctctacctgg
     2401 cctcccaccc ccaatatgcg gggcccgggg ccgaggctgc cttctcccgc cgttttgctg
     2461 agctcttcct gcagcacttt gaagccgagg tggcccgggc ctctggctcc ctgtcgccac
     2521 ccatcctggc tcccctgagc cctggtgcgg agatttcgcc acatgacctg tcccttgaga
     2581 gctgcagggt gggtgggccc ctggctgtgc tgggcccttc tcgatcatct gaggacctgg
     2641 ccggccccct cccttcctca gtctcttcct cctctacaac ctcctccaag ccgaagctca
     2701 agaagcgctt ttccctgcgt tcagtgggtc gctctgtccg aggctcagtc cgtggcatcc
     2761 tgcagtggcg ggggaccgtt gaccctccct cctccgctgg gcccctggag acctcgtcag
     2821 gccccccagt cttaggtgga aacagcaact ccaactcctc tggcggggct gggaccgttg
     2881 gtaggggact ggtcagtgat ggaacgtccc ctggggaaag atggactcac cgttttgaga
     2941 ggctgagact cagtcgggga gggggcgcct tgaaggatgg agcagggatg gtgcagaggg
     3001 aagagctgct gagtttcatg ggggctgagg aggcagcccc tgacccagcc ggagtgggcc
     3061 ggggaggagg ggtggctggg cctccttcag ggggaggagg gcagcctcag tggcagaagt
     3121 gtcgcctgct gcttcgaagt gaaggagaag gaggaggagg aagtcgcctg gagttctttg
     3181 taccacccaa ggcctctcgg ccccgactca gcatcccctg ctcttctatc acagacgtcc
     3241 ggacaaccac agccctggag atgcctgacc gggagaacac gtttgtggtt aaggtggaag
     3301 gtccatccga gtatatcatg gagacagtgg atgcccagca tgtgaaggcc tgggtgtctg
     3361 acatccaaga atgcctgagc ccaggaccct gccctgctac cagtccccgc cccatgaccc
     3421 tccctctggc ccctgggacc tcattcctta caagggagaa cacagacagc ctggagctgt
     3481 cctgcctgaa tcactcggag agtctaccca gccaggacct gctgcttgga cccagcgaga
     3541 gcaatgaccg cctgtcgcag ggggcatatg ggggcctctc agaccgcccc tcggcatcca
     3601 tctcccccag ctctgcctcc attgccgcct cccattttga ctcgatggaa ctgcttcccc
     3661 cagagttgcc cccccgcatc cccattgaag agggaccccc aacagggaca gttcatcccc
     3721 tctcagcccc ctaccctccc ttggacactc cggaaacagc cacagggtcc ttcctgttcc
     3781 agggggagcc agagggcggt gagggggacc agcccctctc agggtatcct tggttccacg
     3841 ggatgctctc tcggctcaag gctgcacagt tggtgctgac tggcggcact ggctcccacg
     3901 gtgtcttcct ggtgcgccag agtgagacaa ggcggggtga atacgtcctc accttcaact
     3961 tccagggcaa ggccaagcac ctgcgtttgt cgctgaacga ggagggtcag tgccgggtcc
     4021 agcacctgtg gttccagtcc attttcgata tgctcgagca cttccgggtg caccccatcc
     4081 ctttggagtc gggaggctcc agtgatgttg tccttgtcag ctatgtccca tcctcccagc
     4141 gacagcagga accgaccacc tcccatgacc caccccagcc ccctgaaccc ccttcatgga
     4201 cagatccccc acagcctggg gcagaagagg cgtcgagggc gccagaagtg gcggcagcag
     4261 cagccgcagc agccaaagag aggcaagaga aagagaaagc gggcggtgga ggggtcccgg
     4321 aagagctggt ccccgtggtt gagctggtcc ccgtggttga attggaagag gccatagccc
     4381 caggctcaga ggcccagggc gctgggtctg gtggggacgc gggggtgccc ccaatggtgc
     4441 agctgcagca gtcaccacta gggggtgatg gagaggaagg gggccacccc agggccatta
     4501 acaaccagta ctccttcgtg tgagccaacc ccacccgctc cacccttttt aaacccccca
     4561 gccctgctcg tgagattggg ctgggtaggg acagaggagg ccgaaatccc tcccccatgc
     4621 ttcctgaccc ttgttggcca agggcatctt tgatggtaca agcagaggct cgggagaggc
     4681 tcccgtcaca cactacaggt cccctcccca gggcagggga tttgggctcc atgagctcct
     4741 tgaggggctc ttctggtcag ccccaccctg ggggccattt ccccattaac tacccccagc
     4801 ccgaggcagg gtgaggggga agggctgtca gttacattaa ggtggttgtt gttgttgttt
     4861 taaacaaaat ggagaagcat aaataaataa aaaggtttat ctcggttc
//
