ID   DMRT2_HUMAN             Reviewed;         561 AA.
AC   Q9Y5R5; B1ANC0; B9EGJ1; Q9NPG6;
DT   01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT   31-MAY-2011, sequence version 2.
DT   25-JAN-2012, entry version 88.
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] (ISOFORM 2).
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] (ISOFORMS 2 AND 3).
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] (ISOFORM 2).
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).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
RA   Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
RA   Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
RA   Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
RA   Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
RA   Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
RA   Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
RA   Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
RA   Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
RA   Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
RA   Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
RA   Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
RA   McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
RA   Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
RA   Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
RA   Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
RA   Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
RA   Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
RA   Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
RA   Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
RA   Rogers J., Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- SUBCELLULAR LOCATION: Nucleus (Potential).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q9Y5R5-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9Y5R5-2; Sequence=VSP_041248, VSP_041249;
CC         Note=Produced by DMRT2 bicistronic transcripts
CC         (AF284223/AF284224) from non-overlapping reading frame,
CC         according to PubMed:10729224;
CC       Name=3;
CC         IsoId=Q9Y5R5-3; Sequence=VSP_041247;
CC         Note=Produced by DMRT2 bicistronic transcripts
CC         (AF284223/AF284224) from non-overlapping reading frame,
CC         according to PubMed:10729224;
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.
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DR   EMBL; AF130729; AAD40475.1; -; mRNA.
DR   EMBL; AF284223; AAF86291.1; -; mRNA.
DR   EMBL; AF284223; AAF86292.1; -; mRNA.
DR   EMBL; AF284224; AAF86293.1; -; mRNA.
DR   EMBL; AF284224; AAF86294.1; -; mRNA.
DR   EMBL; Y19052; CAB59891.1; -; mRNA.
DR   EMBL; AL358976; CAH70589.1; -; Genomic_DNA.
DR   EMBL; CH471071; EAW58816.1; -; Genomic_DNA.
DR   EMBL; BC136493; AAI36494.1; -; mRNA.
DR   IPI; IPI00001732; -.
DR   IPI; IPI00334605; -.
DR   IPI; IPI01018035; -.
DR   RefSeq; NP_001124337.1; NM_001130865.2.
DR   RefSeq; NP_006548.1; NM_006557.6.
DR   RefSeq; NP_870987.2; NM_181872.4.
DR   UniGene; Hs.59506; -.
DR   ProteinModelPortal; Q9Y5R5; -.
DR   SMR; Q9Y5R5; 121-165.
DR   STRING; Q9Y5R5; -.
DR   DMDM; 12229820; -.
DR   PRIDE; Q9Y5R5; -.
DR   Ensembl; ENST00000259622; ENSP00000259622; ENSG00000173253.
DR   Ensembl; ENST00000302441; ENSP00000305785; ENSG00000173253.
DR   Ensembl; ENST00000358146; ENSP00000350865; ENSG00000173253.
DR   Ensembl; ENST00000382251; ENSP00000371686; ENSG00000173253.
DR   Ensembl; ENST00000382255; ENSP00000371690; ENSG00000173253.
DR   Ensembl; ENST00000412350; ENSP00000397494; ENSG00000173253.
DR   GeneID; 10655; -.
DR   KEGG; hsa:10655; -.
DR   UCSC; uc003zhb.2; human.
DR   CTD; 10655; -.
DR   GeneCards; GC09P001050; -.
DR   H-InvDB; HIX0025707; -.
DR   HGNC; HGNC:2935; DMRT2.
DR   HPA; HPA029297; -.
DR   MIM; 604935; gene.
DR   neXtProt; NX_Q9Y5R5; -.
DR   Orphanet; 242; 46,XY complete gonadal dysgenesis.
DR   PharmGKB; PA27382; -.
DR   GeneTree; ENSGT00550000074486; -.
DR   HOVERGEN; HBG051366; -.
DR   PhylomeDB; 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:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
DR   GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; TAS:ProtInc.
DR   GO; GO:0008584; P:male gonad development; TAS:ProtInc.
DR   GO; GO:0007530; P:sex determination; TAS:ProtInc.
DR   GO; GO:0006351; P:transcription, DNA-dependent; 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   SUPFAM; SSF82927; DM_DNA_bd; 1.
DR   PROSITE; PS40000; DM_1; 1.
DR   PROSITE; PS50809; DM_2; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Complete proteome; DNA-binding; Metal-binding;
KW   Nucleus; Reference proteome; Transcription; Transcription regulation;
KW   Zinc.
FT   CHAIN         1    561       Doublesex- and mab-3-related
FT                                transcription factor 2.
FT                                /FTId=PRO_0000207048.
FT   DNA_BIND    123    170       DM.
FT   VAR_SEQ       1    233       Missing (in isoform 3).
FT                                /FTId=VSP_041247.
FT   VAR_SEQ     210    226       GYRPIPAETYVGGTFPL -> VLLGLFYSYYVYIMNHL
FT                                (in isoform 2).
FT                                /FTId=VSP_041248.
FT   VAR_SEQ     227    561       Missing (in isoform 2).
FT                                /FTId=VSP_041249.
FT   CONFLICT    329    329       A -> G (in Ref. 2; AAF86292/AAF86294).
FT   CONFLICT    372    372       P -> H (in Ref. 2; AAF86292/AAF86294).
FT   CONFLICT    381    381       A -> P (in Ref. 4; AAI36494).
SQ   SEQUENCE   561 AA;  61814 MW;  17D856C78EBB43CB CRC64;
     MADPQAGSAA GDWEIDVESL ELEEDVCGAP RSTPPGPSPP PADGDCEDDE DDDGVDEDAE
     EEGDGEEAGA SPGMPGQPEQ RGGPQPRPPL APQASPAGTG PRERCTPAGG GAEPRKLSRT
     PKCARCRNHG VVSCLKGHKR FCRWRDCQCA NCLLVVERQR VMAAQVALRR QQATEDKKGL
     SGKQNNFERK AVYQRQVRAP SLLAKSILEG YRPIPAETYV GGTFPLPPPV SDRMRKRRAF
     ADKELENIML EREYKEREML ETSQAAALFL PNRMVPGPDY NSYKSAYSPS PVEPPSKDFC
     NFLPTCLDLT MQYSGSGNME LISSNVSVAT TYRQYPLSSR FLVWPKCGPI SDTLLYQQCL
     LNATTSVQAL KPGASWDLKG ARVQDGLSAE QDMMPSKLEG SLVLPHTPEI QTTRSDLQGH
     QAVPERSAFS PPRRNFSPIV DTDSLAAQGH VLTKISKENT RHPLPLRHNP FHSLFQQTLT
     DKSGPELKTP FVKEAFEETP KKHRECLVKD NQKYTFTIDR CAKDLFVAKQ VGTKLSVNEP
     LSFSVESILK RPSSAITRVS Q
//