LOCUS       NM_006941               2885 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens SRY-box transcription factor 10 (SOX10), mRNA.
ACCESSION   NM_006941
VERSION     NM_006941.4
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 2885)
  AUTHORS   Li,Y., Chen,Y., Sun,Y., Li,S., Dong,L., Li,Z. and Shen,G.
  TITLE     Waardenburg syndrome type 2 with a de novo variant of the SOX10
            gene: a case report
  JOURNAL   BMC Med Genomics 17 (1), 104 (2024)
   PUBMED   38659011
  REMARK    GeneRIF: Waardenburg syndrome type 2 with a de novo variant of the
            SOX10 gene: a case report.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2885)
  AUTHORS   Gunadi, Amadeus,V.C., Utami,F.D.T., Halim,F.V., Novebri,N.A.,
            Hanggoro,R.A., Lestari,A.N., Iskandar,K., Dwihantoro,A. and
            Purnomo,E.
  TITLE     Aberrant SOX10 and RET expressions in patients with Hirschsprung
            disease
  JOURNAL   BMC Pediatr 24 (1), 189 (2024)
   PUBMED   38493096
  REMARK    GeneRIF: Aberrant SOX10 and RET expressions in patients with
            Hirschsprung disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2885)
  AUTHORS   Ma,X., Zhao,L., Li,L., Li,X., Ding,C. and Ma,J.
  TITLE     A novel frameshift mutation in SOX10 gene induced Waardenburg
            syndrome type II
  JOURNAL   Mol Genet Genomic Med 12 (3), e2296 (2024)
   PUBMED   38419387
  REMARK    GeneRIF: A novel frameshift mutation in SOX10 gene induced
            Waardenburg syndrome type II.
REFERENCE   4  (bases 1 to 2885)
  AUTHORS   Macagno,N., Kervarrec,T., Thanguturi,S., Sohier,P., Pissaloux,D.,
            Mescam,L., Jullie,M.L., Frouin,E., Osio,A., Faisant,M., Le
            Loarer,F., Cribier,B., Calonje,E., Luna,E.V.E., Massi,D., Goto,K.,
            Nishida,H., Paindavoine,S., Houlier,A., Tantot,J., Benzerdjeb,N.,
            Tirode,F., De la Fouchardiere,A. and Battistella,M.
  TITLE     SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions
            Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors
  JOURNAL   Mod Pathol 37 (3), 100430 (2024)
   PUBMED   38266920
  REMARK    GeneRIF: SOX10-Internal Tandem Duplications and PLAG1 or HMGA2
            Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed
            Tumors.
REFERENCE   5  (bases 1 to 2885)
  AUTHORS   Pingault,V., Bondurand,N., Kuhlbrodt,K., Goerich,D.E., Prehu,M.O.,
            Puliti,A., Herbarth,B., Hermans-Borgmeyer,I., Legius,E.,
            Matthijs,G., Amiel,J., Lyonnet,S., Ceccherini,I., Romeo,G.,
            Smith,J.C., Read,A.P., Wegner,M. and Goossens,M.
  TITLE     SOX10 mutations in patients with Waardenburg-Hirschsprung disease
  JOURNAL   Nat Genet 18 (2), 171-173 (1998)
   PUBMED   9462749
REFERENCE   6  (bases 1 to 2885)
  AUTHORS   Southard-Smith,E.M., Kos,L. and Pavan,W.J.
  TITLE     Sox10 mutation disrupts neural crest development in Dom
            Hirschsprung mouse model
  JOURNAL   Nat Genet 18 (1), 60-64 (1998)
   PUBMED   9425902
REFERENCE   7  (bases 1 to 2885)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   8  (bases 1 to 2885)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   9  (bases 1 to 2885)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301509
REFERENCE   10 (bases 1 to 2885)
  AUTHORS   Jacobs,J.M. and Wilson,J.
  TITLE     An unusual demyelinating neuropathy in a patient with Waardenburg's
            syndrome
  JOURNAL   Acta Neuropathol 83 (6), 670-674 (1992)
   PUBMED   1636383
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031587.3.
            
            On Aug 31, 2019 this sequence version replaced NM_006941.3.
            
            Summary: This gene encodes a member of the SOX (SRY-related
            HMG-box) family of transcription factors involved in the regulation
            of embryonic development and in the determination of the cell fate.
            The encoded protein may act as a transcriptional activator after
            forming a protein complex with other proteins. This protein acts as
            a nucleocytoplasmic shuttle protein and is important for neural
            crest and peripheral nervous system development. Mutations in this
            gene are associated with Waardenburg-Shah and
            Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008].
            
            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 :: BC007595.1, AJ001183.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396884.8/ ENSP00000380093.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-217               AL031587.3         41617-41833         c
            218-729             AL031587.3         40635-41146         c
            730-998             AL031587.3         35145-35413         c
            999-2885            AL031587.3         29590-31476         c
FEATURES             Location/Qualifiers
     source          1..2885
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..2885
                     /gene="SOX10"
                     /gene_synonym="DOM; PCWH; SOX-10; WS2E; WS4; WS4C"
                     /note="SRY-box transcription factor 10"
                     /db_xref="GeneID:6663"
                     /db_xref="HGNC:HGNC:11190"
                     /db_xref="MIM:602229"
     exon            1..217
                     /gene="SOX10"
                     /gene_synonym="DOM; PCWH; SOX-10; WS2E; WS4; WS4C"
                     /inference="alignment:Splign:2.1.0"
     exon            218..729
                     /gene="SOX10"
                     /gene_synonym="DOM; PCWH; SOX-10; WS2E; WS4; WS4C"
                     /inference="alignment:Splign:2.1.0"
     CDS             302..1702
                     /gene="SOX10"
                     /gene_synonym="DOM; PCWH; SOX-10; WS2E; WS4; WS4C"
                     /note="SRY-related HMG-box gene 10; dominant megacolon,
                     mouse, human homolog of; SRY (sex determining region
                     Y)-box 10; SRY-box 10"
                     /codon_start=1
                     /product="transcription factor SOX-10"
                     /protein_id="NP_008872.1"
                     /db_xref="CCDS:CCDS13964.1"
                     /db_xref="GeneID:6663"
                     /db_xref="HGNC:HGNC:11190"
                     /db_xref="MIM:602229"
                     /translation="MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRA
                     SPGPGELGKVKKEQQDGEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKP
                     HVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERL
                     RMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPG
                     EGSPMSDGNPEHPSGQSHGPPTPPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNV
                     DIGEISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWI
                     SKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAF
                     PSISRPQFDYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSH
                     SPTHWEQPVYTTLSRP"
     exon            730..998
                     /gene="SOX10"
                     /gene_synonym="DOM; PCWH; SOX-10; WS2E; WS4; WS4C"
                     /inference="alignment:Splign:2.1.0"
     exon            999..2885
                     /gene="SOX10"
                     /gene_synonym="DOM; PCWH; SOX-10; WS2E; WS4; WS4C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2863..2868
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX10"
                     /gene_synonym="DOM; PCWH; SOX-10; WS2E; WS4; WS4C"
                     /note="hexamer: AATAAA"
     polyA_site      2885
                     /gene="SOX10"
                     /gene_synonym="DOM; PCWH; SOX-10; WS2E; WS4; WS4C"
                     /note="major polyA site"
ORIGIN      
        1 agtcgctcag tcagtctcgg gctgtccggc cagggtggtt ggtggtaagg attcaggctc
       61 cgtcctaacg aggccgtggc ctgaggctca gggccccccg cccctccctc ccagcccacc
      121 agcgtcacct cccagccccg agctggaccg cacaccttgg gacacggttt tccacttcct
      181 aaggacgagc cccagactgg aggagaggtc cgaggaggtg ggcgttggac tctttgcgag
      241 gaccccggcg gctggcccgg gggaggcggc cgaggcggcg gcggcggcgg ccgggggcga
      301 catggcggag gagcaggacc tatcggaggt ggagctgagc cccgtgggct cggaggagcc
      361 ccgctgcctg tccccgggga gcgcgccctc gctagggccc gacggcggcg gcggcggatc
      421 gggcctgcga gccagcccgg ggccaggcga gctgggcaag gtcaagaagg agcagcagga
      481 cggcgaggcg gacgatgaca agttccccgt gtgcatccgc gaggccgtca gccaggtgct
      541 cagcggctac gactggacgc tggtgcccat gcccgtgcgc gtcaacggcg ccagcaaaag
      601 caagccgcac gtcaagcggc ccatgaacgc cttcatggtg tgggctcagg cagcgcgcag
      661 gaagctcgcg gaccagtacc cgcacctgca caacgctgag ctcagcaaga cgctgggcaa
      721 gctctggagg ctgctgaacg aaagtgacaa gcgccccttc atcgaggagg ctgagcggct
      781 ccgtatgcag cacaagaaag accacccgga ctacaagtac cagcccaggc ggcggaagaa
      841 cgggaaggcc gcccagggcg aggcggagtg ccccggtggg gaggccgagc aaggtgggac
      901 cgccgccatc caggcccact acaagagcgc ccacttggac caccggcacc caggagaggg
      961 ctcccccatg tcagatggga accccgagca cccctcaggc cagagccatg gcccacccac
     1021 ccctccaacc accccgaaga cagagctgca gtcgggcaag gcagacccga agcgggacgg
     1081 gcgctccatg ggggagggcg ggaagcctca catcgacttc ggcaacgtgg acattggtga
     1141 gatcagccac gaggtaatgt ccaacatgga gacctttgat gtggctgagt tggaccagta
     1201 cctgccgccc aatgggcacc caggccatgt gagcagctac tcagcagccg gctatgggct
     1261 gggcagtgcc ctggccgtgg ccagtggaca ctccgcctgg atctccaagc caccaggcgt
     1321 ggctctgccc acggtctcac cacctggtgt ggatgccaaa gcccaggtga agacagagac
     1381 cgcggggccc caggggcccc cacactacac cgaccagcca tccacctcac agatcgccta
     1441 cacctccctc agcctgcccc actatggctc agccttcccc tccatctccc gcccccagtt
     1501 tgactactct gaccatcagc cctcaggacc ctattatggc cactcgggcc aggcctctgg
     1561 cctctactcg gccttctcct atatggggcc ctcgcagcgg cccctctaca cggccatctc
     1621 tgaccccagc ccctcagggc cccagtccca cagccccaca cactgggagc agccagtata
     1681 tacgacactg tcccggccct aaagggggcc ctgtcgccac caccccccgc ccagcccctg
     1741 cccccagcct gtgtgccctg ttccttgccc acctcaggcc tggtggtggc agtggaggag
     1801 gctgaggagg ctgaagaggc tgacaggtcg gggggctttc tgtctggctc actgccctga
     1861 tgacccaccc gccccatcca ggctccagca gcaaagcccc aggagaacag gctggacaga
     1921 ggagaaggag gttgactgtt gcacccacac tgaaagatga ggggctgcac cttcccccag
     1981 gaatgaccct ctatcccagg acctgagaag ggcctgctca ccctcctcgg ggaggggaag
     2041 caccagggtt ggtggcatcg gaggccttac cactcctatg actcctgttt tctctctcac
     2101 agatagtgag ggtctgacat gcccatgcca cctatgccac agtgcctaag ggctaggcca
     2161 cccagagact gtgcccggag ctggccgtgt ctcccactca ggggctgaga gtagctttga
     2221 ggagcctcat tggggagtgg ggggttcgag ggacttagtg gagttctcat cccttcaatg
     2281 ccccctccct ttctgaaggc aggaaggagt tggcacagag gccccctgat ccaattctgt
     2341 gccaataacc tcattctttg tctgagaaac agcccccagt cctcctccac tacaacctcc
     2401 atgaccttga gacgcatccc aggaggtgac gaggcagggg ctccaggaaa ggaatcagag
     2461 acaattcaca gagcctccct ccctgggctc cttgccagct ccctcttccc ttactaggct
     2521 ctatggcccc tgctcagtca gccccactcc ctgggcttcc cagagagtga cagctgctca
     2581 ggccctaacc cttggctcca ggagacacag ggcccagcac ccaggttgct gtcggcaggc
     2641 tgaagacact agaatcctga cctgtacatt ctgcccttgc ctcttacccc ttgcctccca
     2701 gtggtatttg aataaagtat gtagctatat ctgcccctat tttcctgttc tgcagccccc
     2761 caaatccaca tgtaactcat tactgtctcc tgttatttat ctcagtagtc ccctctccta
     2821 gccactctag cccctattaa ctctgcatta agcattccac ataataaaat taaaggttcc
     2881 ggtta
//
