ID DACH2_HUMAN Reviewed; 599 AA. AC Q96NX9; B1AJV3; Q8NAY3; Q8ND17; Q96N55; DT 01-MAR-2004, integrated into UniProtKB/Swiss-Prot. DT 01-DEC-2001, sequence version 1. DT 25-JAN-2012, entry version 76. DE RecName: Full=Dachshund homolog 2; DE Short=Dach2; GN Name=DACH2; 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]. RA Prueitt R.L., Barnes R., Zinn A.R.; RT "Human Dachshund 2."; RL Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). RC TISSUE=Lung, and Neuron; 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S., RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., RA Williams G., Williams L., Williamson A., Williamson H., Wilming L., RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 414-599 (ISOFORMS 1/3). RC TISSUE=Brain; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). CC -!- FUNCTION: Transcription factor that is involved in regulation of CC organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to CC act as a corepressor of SIX6 in regulating proliferation by CC directly repressing cyclin-dependent kinase inhibitors, including CC the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 CC promoter in embryonal retina. SIX6 corepression seems also to CC involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together CC with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the CC developing somite, expression of DACH2 and PAX3 is regulated by CC the overlying ectoderm, and DACH2 and PAX3 positively regulate CC each other's expression (By similarity). Probably binds to DNA via CC its DACHbox-N domain. CC -!- SUBUNIT: Interacts with SIX6 and EYA2 (By similarity). CC -!- SUBCELLULAR LOCATION: Nucleus (Probable). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q96NX9-1; Sequence=Displayed; CC Name=2; CC IsoId=Q96NX9-2; Sequence=VSP_009490, VSP_009491; CC Name=3; CC IsoId=Q96NX9-3; Sequence=VSP_009492; CC Note=No experimental confirmation available; CC -!- DOMAIN: The DACHbox-N/DD1 domain forms a structure containing a CC DNA binding motif similar to that of the forkhead/winged helix CC domain (By similarity). CC -!- SIMILARITY: Belongs to the DACH/dachshund family. 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; AF428101; AAL26561.1; -; mRNA. DR EMBL; AK055953; BAB71054.1; -; mRNA. DR EMBL; AK091842; BAC03761.1; -; mRNA. DR EMBL; AL390058; CAI40274.1; -; Genomic_DNA. DR EMBL; AL023095; CAI40274.1; JOINED; Genomic_DNA. DR EMBL; AL034406; CAI40274.1; JOINED; Genomic_DNA. DR EMBL; AL109752; CAI40274.1; JOINED; Genomic_DNA. DR EMBL; AL023095; CAI42168.1; -; Genomic_DNA. DR EMBL; AL034406; CAI42168.1; JOINED; Genomic_DNA. DR EMBL; AL109752; CAI42168.1; JOINED; Genomic_DNA. DR EMBL; AL390058; CAI42168.1; JOINED; Genomic_DNA. DR EMBL; AL109752; CAI42587.1; -; Genomic_DNA. DR EMBL; AL023095; CAI42587.1; JOINED; Genomic_DNA. DR EMBL; AL034406; CAI42587.1; JOINED; Genomic_DNA. DR EMBL; AL390058; CAI42587.1; JOINED; Genomic_DNA. DR EMBL; AL034406; CAI42954.1; -; Genomic_DNA. DR EMBL; AL023095; CAI42954.1; JOINED; Genomic_DNA. DR EMBL; AL109752; CAI42954.1; JOINED; Genomic_DNA. DR EMBL; AL390058; CAI42954.1; JOINED; Genomic_DNA. DR EMBL; AL834456; CAD39116.1; -; mRNA. DR IPI; IPI00065787; -. DR IPI; IPI00402352; -. DR IPI; IPI00984015; -. DR RefSeq; NP_001132986.1; NM_001139514.1. DR RefSeq; NP_001132987.1; NM_001139515.1. DR RefSeq; NP_444511.1; NM_053281.3. DR UniGene; Hs.86603; -. DR ProteinModelPortal; Q96NX9; -. DR SMR; Q96NX9; 66-162. DR STRING; Q96NX9; -. DR DMDM; 44887818; -. DR PRIDE; Q96NX9; -. DR Ensembl; ENST00000373125; ENSP00000362217; ENSG00000126733. DR GeneID; 117154; -. DR KEGG; hsa:117154; -. DR UCSC; uc004eew.1; human. DR UCSC; uc004eex.1; human. DR UCSC; uc010nmq.1; human. DR CTD; 117154; -. DR GeneCards; GC0XP085403; -. DR HGNC; HGNC:16814; DACH2. DR HPA; HPA000258; -. DR MIM; 300608; gene. DR neXtProt; NX_Q96NX9; -. DR GeneTree; ENSGT00390000001134; -. DR HOGENOM; HBG717380; -. DR HOVERGEN; HBG065810; -. DR InParanoid; Q96NX9; -. DR OMA; NMINSFM; -. DR PhylomeDB; Q96NX9; -. DR NextBio; 80105; -. DR ArrayExpress; Q96NX9; -. DR Bgee; Q96NX9; -. DR CleanEx; HS_DACH2; -. DR Genevestigator; Q96NX9; -. DR GermOnline; ENSG00000126733; Homo sapiens. DR GO; GO:0005634; C:nucleus; IDA:HPA. DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW. DR GO; GO:0000166; F:nucleotide binding; IEA:InterPro. DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; IEA:UniProtKB-KW. DR GO; GO:0006351; P:transcription, DNA-dependent; IEA:UniProtKB-KW. DR InterPro; IPR009061; DNA-bd_dom_put. DR InterPro; IPR003380; Transform_Ski. DR Gene3D; G3DSA:3.10.260.20; Transform_Ski; 1. DR Pfam; PF02437; Ski_Sno; 1. DR SUPFAM; SSF46955; Putativ_DNA_bind; 1. PE 2: Evidence at transcript level; KW Alternative splicing; Coiled coil; Complete proteome; KW Developmental protein; DNA-binding; Nucleus; Reference proteome; KW Repressor; Transcription; Transcription regulation. FT CHAIN 1 599 Dachshund homolog 2. FT /FTId=PRO_0000095599. FT REGION 69 155 DACHbox-N. FT REGION 453 533 DACHbox-C. FT COILED 459 554 Potential. FT COMPBIAS 56 61 Poly-Gly. FT COMPBIAS 350 353 Poly-Ala. FT VAR_SEQ 1 219 Missing (in isoform 3). FT /FTId=VSP_009492. FT VAR_SEQ 163 175 Missing (in isoform 2). FT /FTId=VSP_009490. FT VAR_SEQ 584 599 GGNYYCLEMAQQLYSA -> A (in isoform 2). FT /FTId=VSP_009491. SQ SEQUENCE 599 AA; 65323 MW; 4EE435720A83BAA0 CRC64; MAVSASPVIS ATSSGAGVPG GLFRAEPLYS TPREPPRLTP NMINSFVVNN HSNSAGGGGR GNTNTNECRM VDMHGMKVAS FLMDGQELIC LPQVFDLFLK HLVGGLHTVY TKLKRLDISP VVCTVEQVRI LRGLGAIQPG VNRCKLITRK DFETLFTDCT NARRKRQMTR KQAVNSSRPG RPPKRSLGVL QENARLLTHA VPGLLSPGLI TPTGITAAAM AEAMKLQKMK LMAMNTLQGN GSQNGTESEP DDLNSNTGGS ESSWDKDKMQ SPFAAPGPQH GIAHAALAGQ PGIGGAPTLN PLQQNHLLTN RLDLPFMMMP HPLLPVSLPP ASVAMAMNQM NHLNTIANMA AAAQIHSPLS RAGTSVIKER IPESPSPAPS LEENHRPGSQ TSSHTSSSVS SSPSQMDHHL ERMEEVPVQI PIMKSPLDKI QLTPGQALPA GFPGPFIFAD SLSSVETLLT NIQGLLKVAL DNARIQEKQI QQEKKELRLE LYREREIREN LERQLAVELQ SRTTMQKRLK KEKKTKRKLQ EALEFESKRR EQVEQALKQA TTSDSGLRML KDTGIPDIEI ENNGTPHDSA AMQGGNYYCL EMAQQLYSA //