ID   DMTA2_HUMAN             Reviewed;         542 AA.
AC   Q96SC8; Q5TFQ3;
DT   20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT   20-MAY-2008, sequence version 2.
DT   03-AUG-2022, entry version 131.
DE   RecName: Full=Doublesex- and mab-3-related transcription factor A2;
DE   AltName: Full=Doublesex- and mab-3-related transcription factor 5;
GN   Name=DMRTA2; Synonyms=DMRT5;
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 GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 57-542, AND TISSUE 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   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
CC   -!- TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:11863363}.
CC   -!- SIMILARITY: Belongs to the DMRT family. {ECO:0000305}.
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DR   EMBL; AL049637; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AJ301580; CAC37946.1; -; mRNA.
DR   CCDS; CCDS44141.1; -.
DR   RefSeq; NP_115486.1; NM_032110.2.
DR   RefSeq; XP_011540239.1; XM_011541937.2.
DR   AlphaFoldDB; Q96SC8; -.
DR   SMR; Q96SC8; -.
DR   IntAct; Q96SC8; 1.
DR   STRING; 9606.ENSP00000383909; -.
DR   iPTMnet; Q96SC8; -.
DR   PhosphoSitePlus; Q96SC8; -.
DR   BioMuta; DMRTA2; -.
DR   DMDM; 189044724; -.
DR   jPOST; Q96SC8; -.
DR   MassIVE; Q96SC8; -.
DR   PaxDb; Q96SC8; -.
DR   PeptideAtlas; Q96SC8; -.
DR   PRIDE; Q96SC8; -.
DR   ProteomicsDB; 78102; -.
DR   Antibodypedia; 32925; 103 antibodies from 21 providers.
DR   DNASU; 63950; -.
DR   Ensembl; ENST00000404795.4; ENSP00000383909.3; ENSG00000142700.12.
DR   Ensembl; ENST00000418121.5; ENSP00000399370.1; ENSG00000142700.12.
DR   GeneID; 63950; -.
DR   KEGG; hsa:63950; -.
DR   MANE-Select; ENST00000404795.4; ENSP00000383909.3; NM_032110.3; NP_115486.1.
DR   UCSC; uc010ona.3; human.
DR   CTD; 63950; -.
DR   DisGeNET; 63950; -.
DR   GeneCards; DMRTA2; -.
DR   HGNC; HGNC:13908; DMRTA2.
DR   HPA; ENSG00000142700; Group enriched (brain, esophagus, pituitary gland, testis).
DR   MIM; 614804; gene.
DR   neXtProt; NX_Q96SC8; -.
DR   OpenTargets; ENSG00000142700; -.
DR   PharmGKB; PA27385; -.
DR   VEuPathDB; HostDB:ENSG00000142700; -.
DR   eggNOG; KOG3815; Eukaryota.
DR   GeneTree; ENSGT00940000161649; -.
DR   HOGENOM; CLU_038477_1_0_1; -.
DR   InParanoid; Q96SC8; -.
DR   OMA; AYPLGTH; -.
DR   OrthoDB; 1573364at2759; -.
DR   PhylomeDB; Q96SC8; -.
DR   TreeFam; TF317837; -.
DR   PathwayCommons; Q96SC8; -.
DR   BioGRID-ORCS; 63950; 64 hits in 1091 CRISPR screens.
DR   GenomeRNAi; 63950; -.
DR   Pharos; Q96SC8; Tbio.
DR   PRO; PR:Q96SC8; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q96SC8; protein.
DR   Bgee; ENSG00000142700; Expressed in ventricular zone and 35 other tissues.
DR   Genevisible; Q96SC8; HS.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
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: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:0021796; P:cerebral cortex regionalization; IEA:Ensembl.
DR   GO; GO:0071542; P:dopaminergic neuron differentiation; IEA:Ensembl.
DR   GO; GO:0007405; P:neuroblast proliferation; IEA:Ensembl.
DR   GO; GO:0048665; P:neuron fate specification; IEA:Ensembl.
DR   GO; GO:0002052; P:positive regulation of neuroblast proliferation; 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:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
DR   GO; GO:0048866; P:stem cell fate specification; IEA:Ensembl.
DR   Gene3D; 4.10.1040.10; -; 1.
DR   InterPro; IPR001275; DM_DNA-bd.
DR   InterPro; IPR036407; DM_DNA-bd_sf.
DR   InterPro; IPR005173; DMA.
DR   InterPro; IPR026607; DMRT.
DR   InterPro; IPR009060; UBA-like_sf.
DR   PANTHER; PTHR12322; PTHR12322; 1.
DR   Pfam; PF00751; DM; 1.
DR   Pfam; PF03474; DMA; 1.
DR   SMART; SM00301; DM; 1.
DR   SUPFAM; SSF46934; SSF46934; 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   DNA-binding; Metal-binding; Nucleus; Reference proteome; Zinc.
FT   CHAIN           1..542
FT                   /note="Doublesex- and mab-3-related transcription factor
FT                   A2"
FT                   /id="PRO_0000333772"
FT   DOMAIN          314..349
FT                   /note="DMA"
FT                   /evidence="ECO:0000255"
FT   DNA_BIND        70..117
FT                   /note="DM"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00070"
FT   REGION          201..316
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        230..246
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   542 AA;  53356 MW;  1ADA8CE1D2D9C76B CRC64;
     MELRSELPSV PGAATAAAAT ATGPPVASVA SVAAAAAAAA SLPVSVAGGL LRGPPLLLRA
     AEKYPRTPKC ARCRNHGVVS ALKGHKRYCR WKDCLCAKCT LIAERQRVMA AQVALRRQQA
     QEENEARELQ LLYGTAEGLA LAAANGIIPP RPAYEVFGSV CAADGGGPGA GAPAGTGGGA
     AGAGGSEAKL QKFDLFPKTL LQAGRPGSPL PPPVKPLSPD GADSGPGTSS PEVRPGSGSE
     NGDGESFSGS PLARASKEAG GSCPGSAGPG GGGEEDSPGS ASPLGSESGS EADKEEGEAA
     PAPGLGGGSG PRQRTPLDIL TRVFPGHRRG VLELVLQGCG GDVVQAIEQV LNHHRGGLAA
     GLGPAAPPDK AAVGAAAAAD DAWPSRVDAA AAAAAAAGGP GLPAPLQAGP AAPPHHRPLL
     AGAMAPGALG SLSSRSAFSP LQPNASHFGA DAGAYPLGAP LGLSPLRLAY SAAAAHSRGL
     AFMAPYSTAG LVPTLGFRPP MDYAFSDLMR DRSAAAAAAV HKEPTYGGGL YGPMVNGAPE
     KQ