SOLH2_HUMAN
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 03-AUG-2022, entry version 149.
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 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; Q9NX45; -.
DR PeptideAtlas; Q9NX45; -.
DR PRIDE; Q9NX45; -.
DR ProteomicsDB; 83036; -. [Q9NX45-3]
DR Antibodypedia; 34997; 158 antibodies from 18 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 CTD; 100526761; -.
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; GKRENIH; -.
DR OrthoDB; 643083at2759; -.
DR PhylomeDB; Q9NX45; -.
DR TreeFam; TF336841; -.
DR PathwayCommons; Q9NX45; -.
DR SignaLink; Q9NX45; -.
DR SIGNOR; Q9NX45; -.
DR BioGRID-ORCS; 100526761; 9 hits in 944 CRISPR screens.
DR BioGRID-ORCS; 54937; 42 hits in 745 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 104 other tissues.
DR Genevisible; Q9NX45; HS.
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 Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR032669; SOHLH2.
DR PANTHER; PTHR16223:SF16; PTHR16223:SF16; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
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
