LOCUS       NM_017826               2125 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens spermatogenesis and oogenesis specific basic
            helix-loop-helix 2 (SOHLH2), transcript variant 1, mRNA.
ACCESSION   NM_017826 XM_370720
VERSION     NM_017826.3
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 2125)
  AUTHORS   Zhang,R., Zhang,X., Zhang,W., Cui,W., Xiao,Y., Liu,L., Zhi,S.,
            Feng,X., Liu,X., Shen,Y., Chai,J. and Hao,J.
  TITLE     Sohlh2 Regulates the Stemness and Differentiation of Colon Cancer
            Stem Cells by Downregulating LncRNA-H19 Transcription
  JOURNAL   Mol Cancer Res 21 (2), 115-126 (2023)
   PUBMED   36287177
  REMARK    GeneRIF: Sohlh2 Regulates the Stemness and Differentiation of Colon
            Cancer Stem Cells by Downregulating LncRNA-H19 Transcription.
REFERENCE   2  (bases 1 to 2125)
  AUTHORS   Cui,W., Xiao,Y., Zhang,R., Zhao,N., Zhang,X., Wang,F., Liu,Y.,
            Zhang,X. and Hao,J.
  TITLE     SOHLH2 Suppresses Angiogenesis by Downregulating HIF1alpha
            Expression in Breast Cancer
  JOURNAL   Mol Cancer Res 19 (9), 1498-1509 (2021)
   PUBMED   34158392
  REMARK    GeneRIF: SOHLH2 Suppresses Angiogenesis by Downregulating HIF1alpha
            Expression in Breast Cancer.
REFERENCE   3  (bases 1 to 2125)
  AUTHORS   Duran-Lozano,L., Thorleifsson,G., Lopez de Lapuente Portilla,A.,
            Niroula,A., Went,M., Thodberg,M., Pertesi,M., Ajore,R., Cafaro,C.,
            Olason,P.I., Stefansdottir,L., Bragi Walters,G., Halldorsson,G.H.,
            Turesson,I., Kaiser,M.F., Weinhold,N., Abildgaard,N.,
            Andersen,N.F., Mellqvist,U.H., Waage,A., Juul-Vangsted,A.,
            Thorsteinsdottir,U., Hansson,M., Houlston,R., Rafnar,T.,
            Stefansson,K. and Nilsson,B.
  TITLE     Germline variants at SOHLH2 influence multiple myeloma risk
  JOURNAL   Blood Cancer J 11 (4), 76 (2021)
   PUBMED   33875642
  REMARK    GeneRIF: Germline variants at SOHLH2 influence multiple myeloma
            risk.
            Erratum:[Blood Cancer J. 2021 Nov 16;11(11):181. doi:
            10.1038/s41408-021-00575-4.. PMID: 34782614]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2125)
  AUTHORS   Cervan-Martin,M., Suazo-Sanchez,M.I., Rivera-Egea,R., Garrido,N.,
            Lujan,S., Romeu,G., Santos-Ribeiro,S., Castilla,J.A.,
            Gonzalvo,M.C., Clavero,A., Vicente,F.J., Maldonado,V., Burgos,M.,
            Barrionuevo,F.J., Jimenez,R., Sanchez-Curbelo,J., Lopez-Rodrigo,O.,
            Peraza,M.F., Pereira-Caetano,I., Marques,P.I., Carvalho,F.,
            Barros,A., Bassas,L., Seixas,S., Goncalves,J., Larriba,S.,
            Lopes,A.M., Palomino-Morales,R.J. and Carmona,F.D.
  CONSRTM   Lisbon Clinical Group; IVIRMA Group
  TITLE     Intronic variation of the SOHLH2 gene confers risk to male
            reproductive impairment
  JOURNAL   Fertil Steril 114 (2), 398-406 (2020)
   PUBMED   32690270
  REMARK    GeneRIF: Intronic variation of the SOHLH2 gene confers risk to male
            reproductive impairment.
REFERENCE   5  (bases 1 to 2125)
  AUTHORS   Zhang,X., Liu,X., Cui,W., Zhang,R., Liu,Y., Li,Y. and Hao,J.
  TITLE     Sohlh2 alleviates malignancy of EOC cells under hypoxia via
            inhibiting the HIF1alpha/CA9 signaling pathway
  JOURNAL   Biol Chem 401 (2), 263-271 (2020)
   PUBMED   31318683
  REMARK    GeneRIF: Sohlh2 alleviates malignancy of EOC cells under hypoxia
            via inhibiting the HIF1alpha/CA9 signaling pathway.
REFERENCE   6  (bases 1 to 2125)
  AUTHORS   Suzuki,H., Ahn,H.W., Chu,T., Bowden,W., Gassei,K., Orwig,K. and
            Rajkovic,A.
  TITLE     SOHLH1 and SOHLH2 coordinate spermatogonial differentiation
  JOURNAL   Dev Biol 361 (2), 301-312 (2012)
   PUBMED   22056784
REFERENCE   7  (bases 1 to 2125)
  AUTHORS   Woloszynska-Read,A., Zhang,W., Yu,J., Link,P.A.,
            Mhawech-Fauceglia,P., Collamat,G., Akers,S.N., Ostler,K.R.,
            Godley,L.A., Odunsi,K. and Karpf,A.R.
  TITLE     Coordinated cancer germline antigen promoter and global DNA
            hypomethylation in ovarian cancer: association with the BORIS/CTCF
            expression ratio and advanced stage
  JOURNAL   Clin Cancer Res 17 (8), 2170-2180 (2011)
   PUBMED   21296871
REFERENCE   8  (bases 1 to 2125)
  AUTHORS   Wheeler,H.E., Metter,E.J., Tanaka,T., Absher,D., Higgins,J.,
            Zahn,J.M., Wilhelmy,J., Davis,R.W., Singleton,A., Myers,R.M.,
            Ferrucci,L. and Kim,S.K.
  TITLE     Sequential use of transcriptional profiling, expression
            quantitative trait mapping, and gene association implicates MMP20
            in human kidney aging
  JOURNAL   PLoS Genet 5 (10), e1000685 (2009)
   PUBMED   19834535
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2125)
  AUTHORS   Shen,L., Kondo,Y., Guo,Y., Zhang,J., Zhang,L., Ahmed,S., Shu,J.,
            Chen,X., Waterland,R.A. and Issa,J.P.
  TITLE     Genome-wide profiling of DNA methylation reveals a class of
            normally methylated CpG island promoters
  JOURNAL   PLoS Genet 3 (10), 2023-2036 (2007)
   PUBMED   17967063
REFERENCE   10 (bases 1 to 2125)
  AUTHORS   Suzumori,N., Pangas,S.A. and Rajkovic,A.
  TITLE     Candidate genes for premature ovarian failure
  JOURNAL   Curr Med Chem 14 (3), 353-357 (2007)
   PUBMED   17305537
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB022954.1, AK000456.1,
            AL160392.12 and AI368806.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_017826.2.
            
            Summary: This gene encodes one of testis-specific transcription
            factors which are essential for spermatogenesis, oogenesis and
            folliculogenesis. This gene is located on chromosome 13. The
            proteins encoded by this gene and another testis-specific
            transcription factor, SOHLH1, can form heterodimers, in addition to
            homodimers. There is a read-through locus (GeneID: 100526761) that
            shares sequence identity with this gene and the upstream CCDC169
            (GeneID: 728591). Alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (2).
            
            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 :: AK000456.1, HM005590.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379881.8/ ENSP00000369210.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DB022954.1         61-77
            18-662              AK000456.1         1-645
            663-663             AL160392.12        72109-72109         c
            664-963             AK000456.1         647-946
            964-964             AL160392.12        55913-55913         c
            965-1236            AK000456.1         948-1219
            1237-1237           AL160392.12        52736-52736         c
            1238-1671           AK000456.1         1221-1654
            1672-2125           AI368806.1         15-468              c
FEATURES             Location/Qualifiers
     source          1..2125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     gene            1..2125
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /note="spermatogenesis and oogenesis specific basic
                     helix-loop-helix 2"
                     /db_xref="GeneID:54937"
                     /db_xref="HGNC:HGNC:26026"
                     /db_xref="MIM:616066"
     exon            1..78
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1308
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     spermatogenesis- and oogenesis-specific basic
                     helix-loop-helix-containing protein 2; spermatogenesis
                     associated 28; testicular secretory protein Li 50;
                     testicular secretory protein Li 51"
                     /codon_start=1
                     /product="spermatogenesis- and oogenesis-specific basic
                     helix-loop-helix-containing protein 2 isoform 1"
                     /protein_id="NP_060296.2"
                     /db_xref="CCDS:CCDS9355.1"
                     /db_xref="GeneID:54937"
                     /db_xref="HGNC:HGNC:26026"
                     /db_xref="MIM:616066"
                     /translation="MASSIICQEHCQISGQAKIDILLVGDVTVGYLADTVQKLFANIA
                     EVTITISDTKEAAALLDDCIFNMVLLKVPSSLSAEELEAIKLIRFGKKKNTHSLFVFI
                     IPENFKGCISGHGMDIALTEPLTMEKMSNVVKYWTTCPSNTVKTENATGPEELGLPLQ
                     RSYSEHLGYFPTDLFACSESLRNGNGLELNASLSEFEKNKKISLLHSSKEKLRRERIK
                     YCCEQLRTLLPYVKGRKNDAASVLEATVDYVKYIREKISPAVMAQITEALQSNMRFCK
                     KQQTPIELSLPGTVMAQRENSVMSTYSPERGLQFLTNTCWNGCSTPDAESSLDEAVRV
                     PSSSASENAIGDPYKTHISSAALSLNSLHTVRYYSKVTPSYDATAVTNQNISIHLPSA
                     MPPVSKLLPRHCTSGLGQTCTTHPNCLQQFWAY"
     exon            79..293
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     exon            294..355
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     exon            356..460
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     exon            461..560
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     exon            561..671
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     exon            672..819
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     exon            820..911
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     exon            912..1030
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1287
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..2125
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2100..2105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /note="hexamer: AATAAA"
     polyA_site      2125
                     /gene="SOHLH2"
                     /gene_synonym="bHLHe81; SOSF2; SPATA28; TEB1"
                     /note="major polyA site"
ORIGIN      
        1 gccccaggac ccagcacgtg cgcagcggcc atggcttcct caattatctg ccaggagcac
       61 tgccagatct cgggccaggc aaaaatagac atcttattag ttggagatgt cactgtgggc
      121 tacctggctg atactgtaca gaaactattt gcaaacatag cagaagtcac catcaccatc
      181 agtgacacga aggaggcagc agcgcttttg gatgattgca tattcaacat ggttctcttg
      241 aaggtgcctt cttcactaag tgccgaggag ctggaagcca tcaagttaat tagatttggc
      301 aaaaagaaaa atacacattc actgtttgtt tttataatcc ctgaaaattt taaaggttgt
      361 atttcagggc atggaatgga tattgcttta actgaaccac tgacaatgga aaaaatgagt
      421 aatgtggtaa aatactggac aacatgtccc tcaaacactg ttaagactga aaacgcaact
      481 gggcctgaag aacttggatt gcccctgcag aggtcctaca gcgaacacct gggatatttt
      541 cctactgatc tatttgcctg ctctgaatct ttaaggaatg gcaatgggct tgaattaaat
      601 gcttcgttgt cagagttcga gaaaaacaaa aagatctctc ttcttcattc aagcaaggaa
      661 aaactaagaa gggaaagaat caaatattgc tgtgagcagc tgcgtactct cttgccgtat
      721 gtaaaaggga gaaagaatga tgcggcttca gttcttgagg caacagttga ttatgtgaaa
      781 tatatccggg agaaaatctc tccagccgtt atggcccaga ttacagaagc acttcagagc
      841 aacatgaggt tttgtaagaa acaacaaaca cccattgagc tgtctctccc aggcactgtc
      901 atggcacagc gggaaaacag tgtgatgagc acttactccc ctgagagagg gctccaattc
      961 ctgactaata cgtgctggaa tgggtgctcc actcctgatg cagagagctc cttggatgaa
     1021 gctgtgagag ttccatcaag ctccgcctca gagaatgcta ttggtgatcc atataaaact
     1081 cacatttcca gtgcagcgct gtctctgaat tccttgcata ctgtcagata ttattctaaa
     1141 gtcacccctt cctacgatgc aactgctgta acaaatcaga acatttcaat tcatttacct
     1201 tcagccatgc ccccggtctc aaagcttctc cctcggcact gcacttctgg gttgggccag
     1261 acgtgcacta cacatcccaa ctgtctgcaa cagttttggg cgtattaaaa gcacatgttt
     1321 gaaattcaca ctctcaacca cctactgggc gcagtttgac aatctaggaa aagtggaaca
     1381 aagaatgatt ttgaaagctc cacccaaaga cctaatatca aaagagttgg catggtttgg
     1441 cttctgataa atgcactcaa agcttctgca gatagaaaga ccagcagcga aaaagctggc
     1501 cacacactgt cactcatctt catacacact tggatccccg ccagccagag agctacaaga
     1561 acaaatggcc tcagtgacct acactctctt ttctcaaaaa atattccaca atttatgaaa
     1621 aaagcatgct ataaggaaga tccatgtaga cacgataaaa tgattagatt gggaaggtgt
     1681 gttgatacct tgtgtcactg agtacagata ttacaacttg attcttattt ttagtatccc
     1741 tgtgaattac tgtcactcat ttctaggtgg tcttttcctt atttgacatt ttagagagtt
     1801 tccttcttca ttcaccatcc aaactaagat atgcagagag atgctgaaag aggggtttac
     1861 ctcctcactt gacaactaat gaataaattg atgtgtgctt ttgcatttca caatcccttg
     1921 agtgaaacga tggctaatag gtaaatattt ctttctggac cttaagttac agactagcag
     1981 gttttttgtt tttcatctct tcctccctat gggtattaga aaggacagtt gaaaataagg
     2041 gggaaaaagg tttgttttat atttcactga attgttctta tatgtaagtt ttattattaa
     2101 ataaaatact cagttttcac cctga
//
