ID DMRT2_HUMAN Reviewed; 226 AA. AC Q9Y5R5; DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1999, sequence version 1. DT 13-OCT-2009, entry version 67. DE RecName: Full=Doublesex- and mab-3-related transcription factor 2; DE AltName: Full=Doublesex-like 2 protein; DE Short=DSXL-2; GN Name=DMRT2; Synonyms=DSXL2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Testis; RX MEDLINE=99265914; PubMed=10332030; DOI=10.1093/hmg/8.6.989; RA Raymond C.S., Parker E.D., Kettlewell J.R., Brown L.G., Page D.C., RA Kusz K., Jaruzelska J., Reinberg Y., Flejter W.L., Bardwell V.J., RA Hirsch B., Zarkower D.; RT "A region of human chromosome 9p required for testis development RT contains two genes related to known sexual regulators."; RL Hum. Mol. Genet. 8:989-996(1999). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Kidney; RX MEDLINE=20195628; PubMed=10729224; DOI=10.1006/geno.2000.6120; RA Ottolenghi C., Veitia R., Barbieri M., Fellous M., McElreavey K.; RT "The human doublesex-related gene, DMRT2, is homologous to a gene RT involved in somitogenesis and encodes a potential bicistronic RT transcript."; RL Genomics 64:179-186(2000). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Kidney; RX MEDLINE=20313887; PubMed=10857744; DOI=10.1006/geno.2000.6160; RA Calvari V., Bertini V., De Grandi A., Peverali G., Zuffardi O., RA Ferguson-Smith M., Knudtzon J., Camerino G., Borsani G., Guioli S.; RT "A new submicroscopic deletion that refines the 9p region for sex RT reversal."; RL Genomics 65:203-212(2000). CC -!- SUBCELLULAR LOCATION: Nucleus (Potential). CC -!- TISSUE SPECIFICITY: Expressed in testis, kidney and skeletal CC muscle. CC -!- SIMILARITY: Belongs to the DMRT family. CC -!- SIMILARITY: Contains 1 DM DNA-binding domain. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AF130729; AAD40475.1; -; mRNA. DR EMBL; Y19052; CAB59891.1; -; mRNA. DR EMBL; AF284223; AAF86291.1; -; mRNA. DR EMBL; AF284224; AAF86293.1; -; mRNA. DR IPI; IPI00001732; -. DR RefSeq; NP_001124337.1; -. DR RefSeq; NP_006548.1; -. DR RefSeq; NP_870987.2; -. DR UniGene; Hs.59506; -. DR HSSP; P23023; 1LPV. DR STRING; Q9Y5R5; -. DR PRIDE; Q9Y5R5; -. DR Ensembl; ENST00000259622; ENSP00000259622; ENSG00000173253; Homo sapiens. DR Ensembl; ENST00000302441; ENSP00000305785; ENSG00000173253; Homo sapiens. DR Ensembl; ENST00000358146; ENSP00000350865; ENSG00000173253; Homo sapiens. DR Ensembl; ENST00000382251; ENSP00000371686; ENSG00000173253; Homo sapiens. DR Ensembl; ENST00000382255; ENSP00000371690; ENSG00000173253; Homo sapiens. DR Ensembl; ENST00000412350; ENSP00000397494; ENSG00000173253; Homo sapiens. DR GeneID; 10655; -. DR KEGG; hsa:10655; -. DR UCSC; uc003zhb.2; human. DR CTD; 10655; -. DR GeneCards; GC09P001040; -. DR H-InvDB; HIX0025707; -. DR HGNC; HGNC:2935; DMRT2. DR MIM; 604935; gene. DR Orphanet; 242; Gonadal dysgenesis, XY female type. DR PharmGKB; PA27382; -. DR HOVERGEN; Q9Y5R5; -. DR NextBio; 40507; -. DR ArrayExpress; Q9Y5R5; -. DR Bgee; Q9Y5R5; -. DR CleanEx; HS_DMRT2; -. DR Genevestigator; Q9Y5R5; -. DR GermOnline; ENSG00000173253; Homo sapiens. DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell. DR GO; GO:0003700; F:transcription factor activity; TAS:ProtInc. DR GO; GO:0008270; F:zinc ion binding; IEA:UniProtKB-KW. DR GO; GO:0008584; P:male gonad development; TAS:ProtInc. DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; IEA:InterPro. DR GO; GO:0007530; P:sex determination; TAS:ProtInc. DR GO; GO:0006350; P:transcription; IEA:UniProtKB-KW. DR InterPro; IPR001275; DM_DNA_bd. DR Gene3D; G3DSA:4.10.1040.10; DM_DNA_bd; 1. DR Pfam; PF00751; DM; 1. DR SMART; SM00301; DM; 1. DR PROSITE; PS40000; DM_1; 1. DR PROSITE; PS50809; DM_2; 1. PE 2: Evidence at transcript level; KW Complete proteome; DNA-binding; Metal-binding; Nucleus; Transcription; KW Transcription regulation; Zinc. FT CHAIN 1 226 Doublesex- and mab-3-related FT transcription factor 2. FT /FTId=PRO_0000207048. FT DNA_BIND 119 165 DM. SQ SEQUENCE 226 AA; 24469 MW; D6DE6CB7EF5EDD43 CRC64; MADPQAGSAA GDWEIDVESL ELEEDVCGAP RSTPPGPSPP PADGDCEDDE DDDGVDEDAE EEGDGEEAGA SPGMPGQPEQ RGGPQPRPPL APQASPAGTG PRERCTPAGG GAEPRKLSRT PKCARCRNHG VVSCLKGHKR FCRWRDCQCA NCLLVVERQR VMAAQVALRR QQATEDKKGL SGKQNNFERK AVYQRQVRAP SLLAKSILEV LLGLFYSYYV YIMNHL //