Q96NX9 (DACH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dachshund homolog 2
Short name=Dach2

Gene names

Name:

DACH2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	599 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal retina. SIX6 corepression seems also to involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the developing somite, expression of DACH2 and PAX3 is regulated by the overlying ectoderm, and DACH2 and PAX3 positively regulate each other's expression By similarity. Probably binds to DNA via its DACHbox-N domain.
Subunit structure	Interacts with SIX6 and EYA2 By similarity.
Subcellular location	Nucleus Probable.
Domain	The DACHbox-N/DD1 domain forms a structure containing a DNA binding motif similar to that of the forkhead/winged helix domain By similarity.
Sequence similarities	Belongs to the DACH/dachshund family.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
Ligand	DNA-binding
Molecular function	Developmental protein Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	development of primary female sexual characteristics Inferred from electronic annotation. Source: Compara regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from direct assay. Source: HPA
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW nucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96NX9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q96NX9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     163-175: Missing.
     584-599: GGNYYCLEMAQQLYSA → A

Isoform 3 (identifier: Q96NX9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-219: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q96NX9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-167: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 599	599	Dachshund homolog 2		PRO_0000095599
Regions
	Region	69 – 155	87	DACHbox-N
	Region	453 – 533	81	DACHbox-C
	Coiled coil	459 – 554	96	Potential
	Compositional bias	56 – 61	6	Poly-Gly
	Compositional bias	350 – 353	4	Poly-Ala
Natural variations
	Alternative sequence	1 – 219	219	Missing in isoform 3.		VSP_009492
	Alternative sequence	1 – 167	167	Missing in isoform 4.		VSP_044275
	Alternative sequence	163 – 175	13	Missing in isoform 2.		VSP_009490
	Alternative sequence	584 – 599	16	GGNYY…QLYSA → A in isoform 2.		VSP_009491

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 4EE435720A83BAA0	FASTA	599	65,323
	10 20 30 40 50 60 MAVSASPVIS ATSSGAGVPG GLFRAEPLYS TPREPPRLTP NMINSFVVNN HSNSAGGGGR 70 80 90 100 110 120 GNTNTNECRM VDMHGMKVAS FLMDGQELIC LPQVFDLFLK HLVGGLHTVY TKLKRLDISP 130 140 150 160 170 180 VVCTVEQVRI LRGLGAIQPG VNRCKLITRK DFETLFTDCT NARRKRQMTR KQAVNSSRPG 190 200 210 220 230 240 RPPKRSLGVL QENARLLTHA VPGLLSPGLI TPTGITAAAM AEAMKLQKMK LMAMNTLQGN 250 260 270 280 290 300 GSQNGTESEP DDLNSNTGGS ESSWDKDKMQ SPFAAPGPQH GIAHAALAGQ PGIGGAPTLN 310 320 330 340 350 360 PLQQNHLLTN RLDLPFMMMP HPLLPVSLPP ASVAMAMNQM NHLNTIANMA AAAQIHSPLS 370 380 390 400 410 420 RAGTSVIKER IPESPSPAPS LEENHRPGSQ TSSHTSSSVS SSPSQMDHHL ERMEEVPVQI 430 440 450 460 470 480 PIMKSPLDKI QLTPGQALPA GFPGPFIFAD SLSSVETLLT NIQGLLKVAL DNARIQEKQI 490 500 510 520 530 540 QQEKKELRLE LYREREIREN LERQLAVELQ SRTTMQKRLK KEKKTKRKLQ EALEFESKRR 550 560 570 580 590 EQVEQALKQA TTSDSGLRML KDTGIPDIEI ENNGTPHDSA AMQGGNYYCL EMAQQLYSA
	Isoform 2 [UniParc]. Checksum: 9594DA631D3DA2A7	FASTA	571	61,947
	10 20 30 40 50 60 MAVSASPVIS ATSSGAGVPG GLFRAEPLYS TPREPPRLTP NMINSFVVNN HSNSAGGGGR 70 80 90 100 110 120 GNTNTNECRM VDMHGMKVAS FLMDGQELIC LPQVFDLFLK HLVGGLHTVY TKLKRLDISP 130 140 150 160 170 180 VVCTVEQVRI LRGLGAIQPG VNRCKLITRK DFETLFTDCT NASSRPGRPP KRSLGVLQEN 190 200 210 220 230 240 ARLLTHAVPG LLSPGLITPT GITAAAMAEA MKLQKMKLMA MNTLQGNGSQ NGTESEPDDL 250 260 270 280 290 300 NSNTGGSESS WDKDKMQSPF AAPGPQHGIA HAALAGQPGI GGAPTLNPLQ QNHLLTNRLD 310 320 330 340 350 360 LPFMMMPHPL LPVSLPPASV AMAMNQMNHL NTIANMAAAA QIHSPLSRAG TSVIKERIPE 370 380 390 400 410 420 SPSPAPSLEE NHRPGSQTSS HTSSSVSSSP SQMDHHLERM EEVPVQIPIM KSPLDKIQLT 430 440 450 460 470 480 PGQALPAGFP GPFIFADSLS SVETLLTNIQ GLLKVALDNA RIQEKQIQQE KKELRLELYR 490 500 510 520 530 540 EREIRENLER QLAVELQSRT TMQKRLKKEK KTKRKLQEAL EFESKRREQV EQALKQATTS 550 560 570 DSGLRMLKDT GIPDIEIENN GTPHDSAAMQ A
	Isoform 3 [UniParc]. Checksum: 1EB661514C165A0D	FASTA	380	41,772
	10 20 30 40 50 60 MAEAMKLQKM KLMAMNTLQG NGSQNGTESE PDDLNSNTGG SESSWDKDKM QSPFAAPGPQ 70 80 90 100 110 120 HGIAHAALAG QPGIGGAPTL NPLQQNHLLT NRLDLPFMMM PHPLLPVSLP PASVAMAMNQ 130 140 150 160 170 180 MNHLNTIANM AAAAQIHSPL SRAGTSVIKE RIPESPSPAP SLEENHRPGS QTSSHTSSSV 190 200 210 220 230 240 SSSPSQMDHH LERMEEVPVQ IPIMKSPLDK IQLTPGQALP AGFPGPFIFA DSLSSVETLL 250 260 270 280 290 300 TNIQGLLKVA LDNARIQEKQ IQQEKKELRL ELYREREIRE NLERQLAVEL QSRTTMQKRL 310 320 330 340 350 360 KKEKKTKRKL QEALEFESKR REQVEQALKQ ATTSDSGLRM LKDTGIPDIE IENNGTPHDS 370 380 AAMQGGNYYC LEMAQQLYSA
	Isoform 4 [UniParc]. Checksum: 6A57F75AAE9BE15D	FASTA	432	47,156
	10 20 30 40 50 60 MTRKQAVNSS RPGRPPKRSL GVLQENARLL THAVPGLLSP GLITPTGITA AAMAEAMKLQ 70 80 90 100 110 120 KMKLMAMNTL QGNGSQNGTE SEPDDLNSNT GGSESSWDKD KMQSPFAAPG PQHGIAHAAL 130 140 150 160 170 180 AGQPGIGGAP TLNPLQQNHL LTNRLDLPFM MMPHPLLPVS LPPASVAMAM NQMNHLNTIA 190 200 210 220 230 240 NMAAAAQIHS PLSRAGTSVI KERIPESPSP APSLEENHRP GSQTSSHTSS SVSSSPSQMD 250 260 270 280 290 300 HHLERMEEVP VQIPIMKSPL DKIQLTPGQA LPAGFPGPFI FADSLSSVET LLTNIQGLLK 310 320 330 340 350 360 VALDNARIQE KQIQQEKKEL RLELYREREI RENLERQLAV ELQSRTTMQK RLKKEKKTKR 370 380 390 400 410 420 KLQEALEFES KRREQVEQAL KQATTSDSGL RMLKDTGIPD IEIENNGTPH DSAAMQGGNY 430 YCLEMAQQLY SA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human Dachshund 2." Prueitt R.L., Barnes R., Zinn A.R. Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4). Tissue: Lung and Neuron.
[3]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 414-599 (ISOFORMS 1/3/4). Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF428101 mRNA. Translation: AAL26561.1. AK055953 mRNA. Translation: BAB71054.1. AK091842 mRNA. Translation: BAC03761.1. AK298787 mRNA. Translation: BAG60925.1. AL390058 , AL023095, AL034406, AL109752 Genomic DNA. Translation: CAI40274.1. AL023095 , AL034406, AL109752, AL390058 Genomic DNA. Translation: CAI42168.1. AL109752 , AL023095, AL034406, AL390058 Genomic DNA. Translation: CAI42587.1. AL034406 , AL023095, AL109752, AL390058 Genomic DNA. Translation: CAI42954.1. AL138747 Genomic DNA. No translation available. AL157381 Genomic DNA. No translation available. AL591465 Genomic DNA. No translation available. Z95124 Genomic DNA. No translation available. Z95325 Genomic DNA. No translation available. AL834456 mRNA. Translation: CAD39116.1.
IPI	IPI00065787. IPI00402352. IPI00984015.
RefSeq	NP_001132986.1. NM_001139514.1. NP_001132987.1. NM_001139515.1. NP_444511.1. NM_053281.3.
UniGene	Hs.86603.
3D structure databases
ProteinModelPortal	Q96NX9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000362217.
PTM databases
PhosphoSite	Q96NX9.
Polymorphism databases
DMDM	44887818.
Proteomic databases
PaxDb	Q96NX9.
PRIDE	Q96NX9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373125; ENSP00000362217; ENSG00000126733. ENST00000373131; ENSP00000362223; ENSG00000126733. ENST00000508860; ENSP00000420896; ENSG00000126733. ENST00000510272; ENSP00000421919; ENSG00000126733.
GeneID	117154.
KEGG	hsa:117154.
UCSC	uc004eew.2. human. uc004eex.2. human. uc004eey.3. human.
Organism-specific databases
CTD	117154.
GeneCards	GC0XP085403.
HGNC	HGNC:16814. DACH2.
HPA	HPA000258.
MIM	300608. gene.
neXtProt	NX_Q96NX9.
PharmGKB	PA27135.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG279124.
HOGENOM	HOG000293309.
HOVERGEN	HBG065810.
InParanoid	Q96NX9.
OMA	CTNARRK.
Gene expression databases
ArrayExpress	Q96NX9.
Bgee	Q96NX9.
CleanEx	HS_DACH2.
Genevestigator	Q96NX9.
GermOnline	ENSG00000126733. Homo sapiens.
Family and domain databases
Gene3D	3.10.260.20. 1 hit.
InterPro	IPR009061. DNA-bd_dom_put. IPR003380. Transform_Ski. [Graphical view]
Pfam	PF02437. Ski_Sno. 1 hit. [Graphical view]
SUPFAM	SSF46955. Putativ_DNA_bind. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	117154.
NextBio	80105.
SOURCE	Search...

Entry information

Entry name

DACH2_HUMAN

Accession

Primary (citable) accession number: Q96NX9
Secondary accession number(s): B1AJV3 , B4DQG3, Q8NAY3, Q8ND17, Q96N55

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 1, 2004
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 89 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.