LOCUS       NM_001394463            2222 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens SH2 domain containing 6 (SH2D6), transcript variant 1,
            mRNA.
ACCESSION   NM_001394463
VERSION     NM_001394463.1
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 2222)
  AUTHORS   Loi,E., Moi,L., Blois,S., Bacchelli,E., Vega Benedetti,A.F.,
            Cameli,C., Fadda,R., Maestrini,E., Carta,M., Doneddu,G. and
            Zavattari,P.
  TITLE     ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism
            spectrum disorder scenario
  JOURNAL   J Cell Mol Med 24 (2), 2064-2069 (2020)
   PUBMED   31800155
  REMARK    GeneRIF: ELMOD3-SH2D6 gene fusion as a possible co-star actor in
            autism spectrum disorder scenario.
REFERENCE   2  (bases 1 to 2222)
  AUTHORS   Melzer,D., Perry,J.R., Hernandez,D., Corsi,A.M., Stevens,K.,
            Rafferty,I., Lauretani,F., Murray,A., Gibbs,J.R., Paolisso,G.,
            Rafiq,S., Simon-Sanchez,J., Lango,H., Scholz,S., Weedon,M.N.,
            Arepalli,S., Rice,N., Washecka,N., Hurst,A., Britton,A., Henley,W.,
            van de Leemput,J., Li,R., Newman,A.B., Tranah,G., Harris,T.,
            Panicker,V., Dayan,C., Bennett,A., McCarthy,M.I., Ruokonen,A.,
            Jarvelin,M.R., Guralnik,J., Bandinelli,S., Frayling,T.M.,
            Singleton,A. and Ferrucci,L.
  TITLE     A genome-wide association study identifies protein quantitative
            trait loci (pQTLs)
  JOURNAL   PLoS Genet 4 (5), e1000072 (2008)
   PUBMED   18464913
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2222)
  AUTHORS   Liu,B.A., Jablonowski,K., Raina,M., Arce,M., Pawson,T. and
            Nash,P.D.
  TITLE     The human and mouse complement of SH2 domain proteins-establishing
            the boundaries of phosphotyrosine signaling
  JOURNAL   Mol Cell 22 (6), 851-868 (2006)
   PUBMED   16793553
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC062037.5 and AC016753.9.
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000469800.7/ ENSP00000510308.1
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-217               AC062037.5         71060-71276
            218-433             AC062037.5         71375-71590
            434-545             AC062037.5         74549-74660
            546-606             AC062037.5         74776-74836
            607-701             AC062037.5         74942-75036
            702-801             AC062037.5         77654-77753
            802-915             AC062037.5         80930-81043
            916-1012            AC062037.5         81718-81814
            1013-1038           AC062037.5         81933-81958
            1039-1073           AC062037.5         82327-82361
            1074-1144           AC062037.5         82710-82780
            1145-1259           AC062037.5         82884-82998
            1260-1318           AC062037.5         83556-83614
            1319-1379           AC062037.5         84245-84305
            1380-1402           AC016753.9         58-80
            1403-1463           AC016753.9         530-590
            1464-1542           AC016753.9         992-1070
            1543-1573           AC016753.9         1299-1329
            1574-1598           AC016753.9         1432-1456
            1599-1657           AC016753.9         2024-2082
            1658-1741           AC016753.9         2372-2455
            1742-1900           AC016753.9         2625-2783
            1901-2029           AC016753.9         3425-3553
            2030-2222           AC016753.9         3796-3988
FEATURES             Location/Qualifiers
     source          1..2222
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..2222
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /note="SH2 domain containing 6"
                     /db_xref="GeneID:284948"
                     /db_xref="HGNC:HGNC:30439"
     exon            1..217
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            218..433
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            434..545
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            546..606
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            607..701
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            702..801
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            802..915
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1012
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     CDS             1010..2017
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /note="SH2 linker protein related to BLNK"
                     /codon_start=1
                     /product="SH2 domain-containing protein 6"
                     /protein_id="NP_001381392.1"
                     /db_xref="CCDS:CCDS92791.1"
                     /db_xref="GeneID:284948"
                     /db_xref="HGNC:HGNC:30439"
                     /translation="MDKLSGSRPRLGPPLPPPRCVDSPGWREDAPSPSFLPAPGTWRH
                     KAQEEDEEENKYELPPCEALPLSLAPAHLPGTEEDSLYLDHSGPLGPSKPSPPLPQPT
                     MLKGAVSLPVAGKQGPIFGRREQGASSRVVPGPPKKPDEDLYLECEPDPVLALTQTLS
                     FQVLMPSGPLPRTSVVPRPTTAPQETRNGTADAASKEGRKSSLPSVAPTGSASAAEDS
                     DLLTQPWYSGNCDRYAVESALLHLQKDGAYTVRPSSGPHGSQPFTLAVLLRGRVFNIP
                     IRRLDGGRHYALGREGRNREELFSSVAAMVQHFMWHPLPLVDRHSGSRELTCLLFPTK
                     P"
     exon            1013..1038
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1073
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1144
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1145..1259
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1318
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1319..1379
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1402
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1403..1463
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1542
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..1573
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1598
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1657
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1658..1741
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1742..1900
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            1901..2029
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     exon            2030..2222
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2202..2207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /note="hexamer: AATAAA"
     polyA_site      2222
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /note="major polyA site"
ORIGIN      
        1 gttgggcggg gccttgggtg ctgatccgga cgcaaagatt gcgccagcca gggtgggatc
       61 ccggtagcta ggtgggggct accctgctgg ggaagagatg gccttctctc ctcgcaaacc
      121 cagctcccca cccctgcacg cgcccctctg ccctggagtc gctggtccga gccctccttc
      181 tctgcgaacc tgagccccgc cctgccctcc ctacgagagc aaactcccat tcctggaagg
      241 aggagcagcc cagaccctga gactggacta ggtctgttag ggtccctgtg tggccggcag
      301 gactcgtggt gaagcccggg gaaggcctgg gtcctccagg tcagggatgt aggtcccagg
      361 gtgtgcaggc cgcggtatct gaccatcgtc ggcgccctgc gcccaggcat caattttaca
      421 tggcagagtc aagaatgccc tcttggtcga gtgcagtggc tcacacctgt gatcccaaca
      481 ctttgggagg ctgaggcagg aggattgctt gagcccagaa gttcaagacc agcctggaca
      541 acatatcaac aggacacaga atggtctgcc tgggcctcag tcacattgga ggagcagaga
      601 gagaaggagc catgaggagt cactcaaggg ttttaggcag agccgtgaca caaccagaga
      661 tactacgagc aaaggttccg gaacagggca gggcaggaca ggtttgagag caatggcgcg
      721 atttcggctc acagcaacct ccgcctcctg ggttcaagct attctcctgc ctcaacaacc
      781 tcctgagggc tgggattaca gacaagaggc catgtgagga cacagagaaa gcagccgttt
      841 acaagccaag aagagaggcc gcatcacaaa ccaaccttta tggcaccttg atcttagact
      901 tctagctcca gaacagagat gcaaatgatg ggaacaatgg agcccttgtc cccaggccat
      961 ttgtggcaga tcctgggctc cagggaggca aagctcctct gcctctgcca tggacaagct
     1021 cagtgggagc aggccccggc tggggccacc gctcccaccc cccagatgtg tggactcccc
     1081 aggttggaga gaagatgctc ccagcccttc cttcctgcct gccccaggga cttggagaca
     1141 caaggcccag gaggaggacg aggaggaaaa taagtatgag ctgcccccct gtgaggctct
     1201 gcccctcagt ctagcccctg cccaccttcc tggcactgag gaggactcct tgtacctgga
     1261 tcactctggc cccctgggtc catcaaagcc atcgccaccc ctgcctcagc ccaccatgct
     1321 gaagggagca gtgagcctgc cggtggccgg aaagcaggga cctatctttg ggaggcgaga
     1381 gcagggtgca tcgtccagag tggtgccagg ccctccaaag aaacctgatg aggacctcta
     1441 cttggaatgt gagccggatc cagtcctggc tttgactcag actctcagct tccaagtcct
     1501 gatgccctca ggccctctgc ccaggacatc agtggtgccc aggcctacca cagcccccca
     1561 ggaaactcgg aatggaacag cagatgctgc ctctaaagaa ggaaggaaat cgtctcttcc
     1621 ctctgtagcc cccactggga gtgcctcagc tgctgaggac agtgatctgc tgactcagcc
     1681 ttggtactcg gggaactgtg accgctatgc tgttgagagt gccctgctcc acttacaaaa
     1741 ggatggggcc tataccgtgc gccccagctc agggcctcat ggctcccagc ccttcaccct
     1801 ggcagtgctt ctccgaggcc gggtcttcaa cattcccatc cggcggctgg atggcggacg
     1861 ccactatgcc ctgggccggg agggcaggaa ccgtgaggag ctcttctcct ccgtggcggc
     1921 catggtccag cacttcatgt ggcaccctct gccccttgtg gacagacaca gcggcagccg
     1981 ggaactcacc tgcctgctct tccccaccaa gccttgaggc cacagcgaag aatgcaggtg
     2041 tctgcccagt tcactaggtc ctggatgaag gaaccgtggt ggcctagacc agtcagggga
     2101 cagcacaggc actgctggaa cagcaaagga tcctctcaca tctacttgtg ggcctagggc
     2161 accctgagag ggactggcct accttgcaca agttcacatt caataaacat ttgttgaatg
     2221 aa
//
