DACH2_HUMAN
ID DACH2_HUMAN Reviewed; 599 AA.
AC Q96NX9; B1AJV3; B4DQG3; Q8NAY3; Q8ND17; Q96N55;
DT 01-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Dachshund homolog 2;
DE Short=Dach2;
GN Name=DACH2;
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 [MRNA] (ISOFORM 1).
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; 3 AND 4).
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., 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 [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., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., 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., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., 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., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., 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., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., 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., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA 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 1/3/4).
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., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA 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 act
CC as a corepressor of SIX6 in regulating proliferation by directly
CC repressing cyclin-dependent kinase inhibitors, including the p27Kip1
CC promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal
CC retina. SIX6 corepression seems also to involve NCOR1, TBL1, HDAC1 and
CC HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation
CC of myogenesis. In the developing somite, expression of DACH2 and PAX3
CC is regulated by the overlying ectoderm, and DACH2 and PAX3 positively
CC regulate each other's expression (By similarity). Probably binds to DNA
CC via its DACHbox-N domain. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with SIX6 and EYA2. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
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 Name=4;
CC IsoId=Q96NX9-4; Sequence=VSP_044275;
CC -!- DOMAIN: The DACHbox-N/DD1 domain forms a structure containing a DNA
CC binding motif similar to that of the forkhead/winged helix domain.
CC {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the DACH/dachshund family. {ECO:0000305}.
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DR EMBL; AF428101; AAL26561.1; -; mRNA.
DR EMBL; AK055953; BAB71054.1; -; mRNA.
DR EMBL; AK091842; BAC03761.1; -; mRNA.
DR EMBL; AK298787; BAG60925.1; -; mRNA.
DR EMBL; AL390058; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL023095; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL109752; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL034406; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL138747; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL157381; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL591465; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z95124; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z95325; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL834456; CAD39116.1; -; mRNA.
DR CCDS; CCDS14455.1; -. [Q96NX9-1]
DR CCDS; CCDS48140.1; -. [Q96NX9-2]
DR CCDS; CCDS55457.1; -. [Q96NX9-4]
DR RefSeq; NP_001132986.1; NM_001139514.1. [Q96NX9-2]
DR RefSeq; NP_001132987.1; NM_001139515.1. [Q96NX9-4]
DR RefSeq; NP_444511.1; NM_053281.3. [Q96NX9-1]
DR RefSeq; XP_016884745.1; XM_017029256.1. [Q96NX9-2]
DR AlphaFoldDB; Q96NX9; -.
DR SMR; Q96NX9; -.
DR BioGRID; 125560; 10.
DR IntAct; Q96NX9; 8.
DR MINT; Q96NX9; -.
DR STRING; 9606.ENSP00000362217; -.
DR iPTMnet; Q96NX9; -.
DR PhosphoSitePlus; Q96NX9; -.
DR BioMuta; DACH2; -.
DR DMDM; 44887818; -.
DR EPD; Q96NX9; -.
DR jPOST; Q96NX9; -.
DR MassIVE; Q96NX9; -.
DR PaxDb; Q96NX9; -.
DR PeptideAtlas; Q96NX9; -.
DR PRIDE; Q96NX9; -.
DR ProteomicsDB; 4870; -.
DR ProteomicsDB; 77573; -. [Q96NX9-1]
DR ProteomicsDB; 77574; -. [Q96NX9-2]
DR ProteomicsDB; 77575; -. [Q96NX9-3]
DR Antibodypedia; 417; 172 antibodies from 30 providers.
DR DNASU; 117154; -.
DR Ensembl; ENST00000373125.9; ENSP00000362217.4; ENSG00000126733.22. [Q96NX9-1]
DR Ensembl; ENST00000373131.5; ENSP00000362223.1; ENSG00000126733.22. [Q96NX9-2]
DR Ensembl; ENST00000508860.5; ENSP00000420896.1; ENSG00000126733.22. [Q96NX9-4]
DR Ensembl; ENST00000510272.5; ENSP00000421919.1; ENSG00000126733.22. [Q96NX9-3]
DR GeneID; 117154; -.
DR KEGG; hsa:117154; -.
DR MANE-Select; ENST00000373125.9; ENSP00000362217.4; NM_053281.3; NP_444511.1.
DR UCSC; uc004eew.3; human. [Q96NX9-1]
DR CTD; 117154; -.
DR DisGeNET; 117154; -.
DR GeneCards; DACH2; -.
DR HGNC; HGNC:16814; DACH2.
DR HPA; ENSG00000126733; Tissue enhanced (brain, epididymis, fallopian tube).
DR MIM; 300608; gene.
DR neXtProt; NX_Q96NX9; -.
DR OpenTargets; ENSG00000126733; -.
DR PharmGKB; PA27135; -.
DR VEuPathDB; HostDB:ENSG00000126733; -.
DR eggNOG; KOG3915; Eukaryota.
DR GeneTree; ENSGT00390000001134; -.
DR HOGENOM; CLU_027923_0_0_1; -.
DR InParanoid; Q96NX9; -.
DR OMA; PSQMDHQ; -.
DR OrthoDB; 429758at2759; -.
DR PhylomeDB; Q96NX9; -.
DR TreeFam; TF316697; -.
DR PathwayCommons; Q96NX9; -.
DR SignaLink; Q96NX9; -.
DR SIGNOR; Q96NX9; -.
DR BioGRID-ORCS; 117154; 15 hits in 702 CRISPR screens.
DR ChiTaRS; DACH2; human.
DR GeneWiki; DACH2; -.
DR GenomeRNAi; 117154; -.
DR Pharos; Q96NX9; Tbio.
DR PRO; PR:Q96NX9; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q96NX9; protein.
DR Bgee; ENSG00000126733; Expressed in endothelial cell and 92 other tissues.
DR ExpressionAtlas; Q96NX9; baseline and differential.
DR Genevisible; Q96NX9; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005667; C:transcription regulator complex; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0046545; P:development of primary female sexual characteristics; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 3.10.260.20; -; 1.
DR InterPro; IPR009061; DNA-bd_dom_put_sf.
DR InterPro; IPR003380; SKI/SNO/DAC.
DR InterPro; IPR037000; Ski_DNA-bd_sf.
DR Pfam; PF02437; Ski_Sno; 1.
DR SUPFAM; SSF46955; SSF46955; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Developmental protein; DNA-binding;
KW Nucleus; Reference proteome; Repressor; Transcription;
KW Transcription regulation.
FT CHAIN 1..599
FT /note="Dachshund homolog 2"
FT /id="PRO_0000095599"
FT REGION 69..155
FT /note="DACHbox-N"
FT REGION 166..186
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 237..280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 370..409
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 453..533
FT /note="DACHbox-C"
FT COILED 459..554
FT /evidence="ECO:0000255"
FT COMPBIAS 237..267
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 383..406
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..219
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_009492"
FT VAR_SEQ 1..167
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044275"
FT VAR_SEQ 163..175
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_009490"
FT VAR_SEQ 584..599
FT /note="GGNYYCLEMAQQLYSA -> A (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="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
