ID   SOLH2_HUMAN             Reviewed;         425 AA.
AC   Q9NX45; B4DX90; Q5EGC3; Q8TC74; Q96QX4;
DT   15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT   15-JAN-2008, sequence version 2.
DT   27-MAR-2024, entry version 158.
DE   RecName: Full=Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2;
GN   Name=SOHLH2; Synonyms=TEB1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC   TISSUE=Testis;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057823; DOI=10.1038/nature02379;
RA   Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA   Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA   Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA   Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA   Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA   Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA   Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA   Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA   Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA   Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA   Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA   Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA   Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA   Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA   Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA   Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA   Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA   Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA   Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA   Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA   Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA   Rogers J., Ross M.T.;
RT   "The DNA sequence and analysis of human chromosome 13.";
RL   Nature 428:522-528(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Testis;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 24-425 (ISOFORM 1).
RA   Smas C.M.;
RT   "Identification and functional characterization of two novel bHLH family
RT   members.";
RL   Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases.
CC   -!- FUNCTION: Transcription regulator of both male and female germline
CC       differentiation. Suppresses genes involved in spermatogonial stem cells
CC       maintenance, and induces genes important for spermatogonial
CC       differentiation. Coordinates oocyte differentiation without affecting
CC       meiosis I (By similarity). {ECO:0000250|UniProtKB:Q6IUP1,
CC       ECO:0000250|UniProtKB:Q9D489}.
CC   -!- SUBUNIT: Forms both hetero- and homodimers with SOHLH1.
CC       {ECO:0000250|UniProtKB:Q9D489}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9D489,
CC       ECO:0000255|PROSITE-ProRule:PRU00981}. Cytoplasm
CC       {ECO:0000250|UniProtKB:Q9D489}. Note=Translocates from the cytoplasm
CC       into the nucleus and the translocation is dependent on SOHLH1
CC       expression. {ECO:0000250|UniProtKB:Q9D489}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q9NX45-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9NX45-2; Sequence=VSP_030652, VSP_030653;
CC       Name=3;
CC         IsoId=Q9NX45-3; Sequence=VSP_042423;
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DR   EMBL; AK000456; BAA91175.1; -; mRNA.
DR   EMBL; AK301863; BAG63302.1; -; mRNA.
DR   EMBL; AL139377; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL160392; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471075; EAX08554.1; -; Genomic_DNA.
DR   EMBL; CH471075; EAX08555.1; -; Genomic_DNA.
DR   EMBL; BC025383; AAH25383.1; -; mRNA.
DR   EMBL; AY884305; AAW78547.1; -; mRNA.
DR   CCDS; CCDS61309.1; -. [Q9NX45-2]
DR   CCDS; CCDS9355.1; -. [Q9NX45-1]
DR   RefSeq; NP_001185839.1; NM_001198910.1. [Q9NX45-3]
DR   RefSeq; NP_001269076.1; NM_001282147.1. [Q9NX45-2]
DR   RefSeq; NP_060296.2; NM_017826.2. [Q9NX45-1]
DR   AlphaFoldDB; Q9NX45; -.
DR   SMR; Q9NX45; -.
DR   BioGRID; 120277; 1.
DR   IntAct; Q9NX45; 2.
DR   STRING; 9606.ENSP00000369210; -.
DR   GlyCosmos; Q9NX45; 1 site, 1 glycan.
DR   GlyGen; Q9NX45; 1 site, 1 N-linked glycan (1 site).
DR   iPTMnet; Q9NX45; -.
DR   PhosphoSitePlus; Q9NX45; -.
DR   BioMuta; SOHLH2; -.
DR   DMDM; 166200297; -.
DR   EPD; Q9NX45; -.
DR   jPOST; Q9NX45; -.
DR   MassIVE; Q9NX45; -.
DR   MaxQB; Q9NX45; -.
DR   PaxDb; 9606-ENSP00000369210; -.
DR   PeptideAtlas; Q9NX45; -.
DR   ProteomicsDB; 83036; -. [Q9NX45-3]
DR   Antibodypedia; 34997; 165 antibodies from 19 providers.
DR   DNASU; 54937; -.
DR   Ensembl; ENST00000317764.6; ENSP00000326838.6; ENSG00000120669.16. [Q9NX45-2]
DR   Ensembl; ENST00000379881.8; ENSP00000369210.3; ENSG00000120669.16. [Q9NX45-1]
DR   GeneID; 100526761; -.
DR   GeneID; 54937; -.
DR   KEGG; hsa:100526761; -.
DR   KEGG; hsa:54937; -.
DR   MANE-Select; ENST00000379881.8; ENSP00000369210.3; NM_017826.3; NP_060296.2.
DR   UCSC; uc001uvj.3; human. [Q9NX45-1]
DR   AGR; HGNC:26026; -.
DR   AGR; HGNC:38866; -.
DR   CTD; 54937; -.
DR   DisGeNET; 100526761; -.
DR   DisGeNET; 54937; -.
DR   GeneCards; SOHLH2; -.
DR   HGNC; HGNC:26026; SOHLH2.
DR   HPA; ENSG00000120669; Tissue enriched (testis).
DR   MIM; 616066; gene.
DR   neXtProt; NX_Q9NX45; -.
DR   OpenTargets; ENSG00000120669; -.
DR   OpenTargets; ENSG00000250709; -.
DR   Orphanet; 619; NON RARE IN EUROPE: Primary ovarian failure.
DR   PharmGKB; PA144596273; -.
DR   VEuPathDB; HostDB:ENSG00000120669; -.
DR   eggNOG; ENOG502S71C; Eukaryota.
DR   GeneTree; ENSGT00390000016050; -.
DR   HOGENOM; CLU_056118_0_0_1; -.
DR   InParanoid; Q9NX45; -.
DR   OMA; LTHCITD; -.
DR   OrthoDB; 2909779at2759; -.
DR   PhylomeDB; Q9NX45; -.
DR   TreeFam; TF336841; -.
DR   PathwayCommons; Q9NX45; -.
DR   SignaLink; Q9NX45; -.
DR   SIGNOR; Q9NX45; -.
DR   BioGRID-ORCS; 100526761; 9 hits in 1008 CRISPR screens.
DR   BioGRID-ORCS; 54937; 45 hits in 823 CRISPR screens.
DR   Pharos; Q9NX45; Tbio.
DR   PRO; PR:Q9NX45; -.
DR   Proteomes; UP000005640; Chromosome 13.
DR   RNAct; Q9NX45; Protein.
DR   Bgee; ENSG00000120669; Expressed in secondary oocyte and 106 other cell types or tissues.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0046982; F:protein heterodimerization activity; ISS:UniProtKB.
DR   GO; GO:0042803; F:protein homodimerization activity; ISS:UniProtKB.
DR   GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR   GO; GO:0030154; P:cell differentiation; ISS:UniProtKB.
DR   GO; GO:0009994; P:oocyte differentiation; ISS:UniProtKB.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR   CDD; cd18908; bHLH_SOHLH1_2; 1.
DR   Gene3D; 4.10.280.10; Helix-loop-helix DNA-binding domain; 1.
DR   InterPro; IPR011598; bHLH_dom.
DR   InterPro; IPR036638; HLH_DNA-bd_sf.
DR   InterPro; IPR039583; TCFL5/SOLH1/2.
DR   PANTHER; PTHR15402:SF2; BHLH DOMAIN-CONTAINING PROTEIN; 1.
DR   PANTHER; PTHR15402; TRANSCRIPTION FACTOR-LIKE 5 PROTEIN; 1.
DR   Pfam; PF00010; HLH; 1.
DR   SMART; SM00353; HLH; 1.
DR   SUPFAM; SSF47459; HLH, helix-loop-helix DNA-binding domain; 1.
DR   PROSITE; PS50888; BHLH; 1.
DR   Genevisible; Q9NX45; HS.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Cytoplasm; Developmental protein; Differentiation;
KW   DNA-binding; Nucleus; Oogenesis; Reference proteome; Spermatogenesis;
KW   Transcription; Transcription regulation.
FT   CHAIN           1..425
FT                   /note="Spermatogenesis- and oogenesis-specific basic helix-
FT                   loop-helix-containing protein 2"
FT                   /id="PRO_0000315700"
FT   DOMAIN          201..252
FT                   /note="bHLH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT   VAR_SEQ         1..16
FT                   /note="MASSIICQEHCQISGQ -> METLQESLNTLLKQLEEEKKTLESQVKYYALK
FT                   LEQESKAYQKINNERRTYLAEMSQGSGLHQVSKRQQVDQLPRMQENLVKTLLLKEELDP
FT                   LK (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_042423"
FT   VAR_SEQ         215..225
FT                   /note="ERIKYCCEQLR -> LYRKHSSFCFW (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_030652"
FT   VAR_SEQ         226..425
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_030653"
FT   VARIANT         14
FT                   /note="S -> L (in dbSNP:rs12873478)"
FT                   /id="VAR_038283"
FT   VARIANT         339
FT                   /note="A -> T (in dbSNP:rs2296968)"
FT                   /id="VAR_038284"
FT   CONFLICT        211
FT                   /note="K -> N (in Ref. 1; BAA91175 and 5; AAW78547)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        312
FT                   /note="T -> A (in Ref. 1; BAA91175 and 5; AAW78547)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        403
FT                   /note="H -> Y (in Ref. 1; BAA91175 and 5; AAW78547)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   425 AA;  46941 MW;  A104DDC11ABD241E CRC64;
     MASSIICQEH CQISGQAKID ILLVGDVTVG YLADTVQKLF ANIAEVTITI SDTKEAAALL
     DDCIFNMVLL KVPSSLSAEE LEAIKLIRFG KKKNTHSLFV FIIPENFKGC ISGHGMDIAL
     TEPLTMEKMS NVVKYWTTCP SNTVKTENAT GPEELGLPLQ RSYSEHLGYF PTDLFACSES
     LRNGNGLELN ASLSEFEKNK KISLLHSSKE KLRRERIKYC CEQLRTLLPY VKGRKNDAAS
     VLEATVDYVK YIREKISPAV MAQITEALQS NMRFCKKQQT PIELSLPGTV MAQRENSVMS
     TYSPERGLQF LTNTCWNGCS TPDAESSLDE AVRVPSSSAS ENAIGDPYKT HISSAALSLN
     SLHTVRYYSK VTPSYDATAV TNQNISIHLP SAMPPVSKLL PRHCTSGLGQ TCTTHPNCLQ
     QFWAY
//