DMRTD_HUMAN
ID DMRTD_HUMAN Reviewed; 367 AA.
AC Q8IXT2; Q8N6Q2; Q96M39; Q96SD4;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Doublesex- and mab-3-related transcription factor C2;
GN Name=DMRTC2;
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] (ISOFORM 2).
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 MRNA] (ISOFORM 1).
RC TISSUE=Brain, and 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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 35-367 (ISOFORM 1), FUNCTION, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=11863363; DOI=10.1006/geno.2002.6711;
RA Ottolenghi C., Fellous M., Barbieri M., McElreavey K.;
RT "Novel paralogy relations among human chromosomes support a link between
RT the phylogeny of doublesex-related genes and the evolution of sex
RT determination.";
RL Genomics 79:333-343(2002).
CC -!- FUNCTION: May be involved in sexual development.
CC {ECO:0000269|PubMed:11863363}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IXT2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IXT2-2; Sequence=VSP_019525, VSP_019526;
CC -!- TISSUE SPECIFICITY: Expressed in testis and pancreas.
CC {ECO:0000269|PubMed:11863363}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the DMRT family. {ECO:0000305}.
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DR EMBL; AK057404; BAB71473.1; -; mRNA.
DR EMBL; BC029202; AAH29202.1; -; mRNA.
DR EMBL; BC039266; AAH39266.1; -; mRNA.
DR EMBL; AJ291669; CAC40652.1; -; mRNA.
DR CCDS; CCDS33034.1; -. [Q8IXT2-1]
DR RefSeq; NP_001035373.1; NM_001040283.2. [Q8IXT2-1]
DR AlphaFoldDB; Q8IXT2; -.
DR SMR; Q8IXT2; -.
DR BioGRID; 122010; 2.
DR IntAct; Q8IXT2; 2.
DR STRING; 9606.ENSP00000269945; -.
DR iPTMnet; Q8IXT2; -.
DR PhosphoSitePlus; Q8IXT2; -.
DR BioMuta; DMRTC2; -.
DR DMDM; 116241336; -.
DR MassIVE; Q8IXT2; -.
DR PaxDb; Q8IXT2; -.
DR PeptideAtlas; Q8IXT2; -.
DR PRIDE; Q8IXT2; -.
DR ProteomicsDB; 71062; -. [Q8IXT2-1]
DR ProteomicsDB; 71063; -. [Q8IXT2-2]
DR Antibodypedia; 30826; 133 antibodies from 22 providers.
DR DNASU; 63946; -.
DR Ensembl; ENST00000269945.8; ENSP00000269945.2; ENSG00000142025.16. [Q8IXT2-1]
DR Ensembl; ENST00000601660.5; ENSP00000472159.1; ENSG00000142025.16. [Q8IXT2-2]
DR GeneID; 63946; -.
DR KEGG; hsa:63946; -.
DR MANE-Select; ENST00000269945.8; ENSP00000269945.2; NM_001040283.3; NP_001035373.1.
DR UCSC; uc002orr.2; human. [Q8IXT2-1]
DR CTD; 63946; -.
DR DisGeNET; 63946; -.
DR GeneCards; DMRTC2; -.
DR HGNC; HGNC:13911; DMRTC2.
DR HPA; ENSG00000142025; Tissue enriched (testis).
DR MIM; 614806; gene.
DR neXtProt; NX_Q8IXT2; -.
DR OpenTargets; ENSG00000142025; -.
DR PharmGKB; PA27388; -.
DR VEuPathDB; HostDB:ENSG00000142025; -.
DR eggNOG; KOG3815; Eukaryota.
DR GeneTree; ENSGT00940000161904; -.
DR HOGENOM; CLU_1250266_0_0_1; -.
DR InParanoid; Q8IXT2; -.
DR OMA; PLPWTPM; -.
DR OrthoDB; 897429at2759; -.
DR PhylomeDB; Q8IXT2; -.
DR TreeFam; TF340713; -.
DR PathwayCommons; Q8IXT2; -.
DR SignaLink; Q8IXT2; -.
DR BioGRID-ORCS; 63946; 17 hits in 1092 CRISPR screens.
DR ChiTaRS; DMRTC2; human.
DR GenomeRNAi; 63946; -.
DR Pharos; Q8IXT2; Tdark.
DR PRO; PR:Q8IXT2; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8IXT2; protein.
DR Bgee; ENSG00000142025; Expressed in right testis and 47 other tissues.
DR ExpressionAtlas; Q8IXT2; baseline and differential.
DR Genevisible; Q8IXT2; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001741; C:XY body; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
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:0007281; P:germ cell development; IBA:GO_Central.
DR GO; GO:0036123; P:histone H3-K9 dimethylation; IEA:Ensembl.
DR GO; GO:0036124; P:histone H3-K9 trimethylation; IEA:Ensembl.
DR GO; GO:0007141; P:male meiosis I; IEA:Ensembl.
DR GO; GO:1900111; P:positive regulation of histone H3-K9 dimethylation; IEA:Ensembl.
DR GO; GO:1900114; P:positive regulation of histone H3-K9 trimethylation; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0007548; P:sex differentiation; IBA:GO_Central.
DR GO; GO:0007290; P:spermatid nucleus elongation; IEA:Ensembl.
DR Gene3D; 4.10.1040.10; -; 1.
DR InterPro; IPR001275; DM_DNA-bd.
DR InterPro; IPR036407; DM_DNA-bd_sf.
DR InterPro; IPR026607; DMRT.
DR InterPro; IPR031577; DMRT-C1/C2_C.
DR PANTHER; PTHR12322; PTHR12322; 1.
DR Pfam; PF00751; DM; 1.
DR Pfam; PF15791; DMRT-like; 1.
DR SMART; SM00301; DM; 1.
DR SUPFAM; SSF82927; SSF82927; 1.
DR PROSITE; PS40000; DM_1; 1.
DR PROSITE; PS50809; DM_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Differentiation; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Sexual differentiation; Transcription;
KW Transcription regulation; Zinc.
FT CHAIN 1..367
FT /note="Doublesex- and mab-3-related transcription factor
FT C2"
FT /id="PRO_0000244106"
FT DNA_BIND 42..89
FT /note="DM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00070"
FT REGION 1..25
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 103..138
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 112..131
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 150..224
FT /note="NSCGPLLLSHPPEASPLSWTPVPPGPWVPGHWLPPGFSMPPPVVCRLLYQEP
FT AVSLPPFPGFDPGTSLQLPTHGP -> PCTQLQPVPSAPAELLWASAAQPSPGSLALVL
FT DSGASWPLGPWTLAASRLLHATTSGVPPAVPRTCCLSASLPWL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019525"
FT VAR_SEQ 225..367
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019526"
FT CONFLICT 73
FT /note="L -> H (in Ref. 1; BAB71473)"
FT /evidence="ECO:0000305"
FT CONFLICT 184
FT /note="P -> Q (in Ref. 2; AAH39266)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 367 AA; 39124 MW; 4AB62E4024CAAB28 CRC64;
MEPSDMPAGY HCPLDSAPWD ETRDPQSTEL IPRRAISRSP TCARCRNHGV TAHLKGHKRL
CLFQACECHK CVLILERRRV MAAQVALRRQ QEAQLKKHLM RRGEASPKAP NHFRKGTTQP
QVPSGKENIA PQPQTPHGAV LLAPTPPGKN SCGPLLLSHP PEASPLSWTP VPPGPWVPGH
WLPPGFSMPP PVVCRLLYQE PAVSLPPFPG FDPGTSLQLP THGPFTTCPG SHPVLTAPLS
GEPQGPPSQP RTHSTLILQP CGTPDPLQLQ PQASGASCLA RTSGPSEWQL QQEAAEALVG
LKDSSQAPRV TPSVPPNPAW ISLLHPCGPP APAGGRGFQP VGPCLRPSPA PSVALHIGRL
GSISLLS
