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Q96NX9

- DACH2_HUMAN

UniProt

Q96NX9 - DACH2_HUMAN

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Protein

Dachshund homolog 2

Gene
DACH2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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.

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. development of primary female sexual characteristics Source: Ensembl
  2. regulation of transcription, DNA-templated Source: UniProtKB-KW
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Dachshund homolog 2
Short name:
Dach2
Gene namesi
Name:DACH2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:16814. DACH2.

Subcellular locationi

Nucleus Inferred

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27135.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 599599Dachshund homolog 2PRO_0000095599Add
BLAST

Proteomic databases

PaxDbiQ96NX9.
PRIDEiQ96NX9.

PTM databases

PhosphoSiteiQ96NX9.

Expressioni

Gene expression databases

ArrayExpressiQ96NX9.
BgeeiQ96NX9.
CleanExiHS_DACH2.
GenevestigatoriQ96NX9.

Organism-specific databases

HPAiHPA000258.

Interactioni

Subunit structurei

Interacts with SIX6 and EYA2 By similarity.

Protein-protein interaction databases

BioGridi125560. 1 interaction.
STRINGi9606.ENSP00000362217.

Structurei

3D structure databases

ProteinModelPortaliQ96NX9.
SMRiQ96NX9. Positions 66-162.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni69 – 15587DACHbox-NAdd
BLAST
Regioni453 – 53381DACHbox-CAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili459 – 55496 Reviewed predictionAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi56 – 616Poly-Gly
Compositional biasi350 – 3534Poly-Ala

Domaini

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 similaritiesi

Belongs to the DACH/dachshund family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG279124.
HOGENOMiHOG000293309.
HOVERGENiHBG065810.
InParanoidiQ96NX9.
OMAiDCTNARR.
OrthoDBiEOG7ZKSCN.
PhylomeDBiQ96NX9.
TreeFamiTF316697.

Family and domain databases

Gene3Di3.10.260.20. 1 hit.
InterProiIPR009061. DNA-bd_dom_put.
IPR003380. Transform_Ski.
[Graphical view]
PfamiPF02437. Ski_Sno. 1 hit.
[Graphical view]
SUPFAMiSSF46955. SSF46955. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96NX9-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAVSASPVIS ATSSGAGVPG GLFRAEPLYS TPREPPRLTP NMINSFVVNN    50
HSNSAGGGGR GNTNTNECRM VDMHGMKVAS FLMDGQELIC LPQVFDLFLK 100
HLVGGLHTVY TKLKRLDISP VVCTVEQVRI LRGLGAIQPG VNRCKLITRK 150
DFETLFTDCT NARRKRQMTR KQAVNSSRPG RPPKRSLGVL QENARLLTHA 200
VPGLLSPGLI TPTGITAAAM AEAMKLQKMK LMAMNTLQGN GSQNGTESEP 250
DDLNSNTGGS ESSWDKDKMQ SPFAAPGPQH GIAHAALAGQ PGIGGAPTLN 300
PLQQNHLLTN RLDLPFMMMP HPLLPVSLPP ASVAMAMNQM NHLNTIANMA 350
AAAQIHSPLS RAGTSVIKER IPESPSPAPS LEENHRPGSQ TSSHTSSSVS 400
SSPSQMDHHL ERMEEVPVQI PIMKSPLDKI QLTPGQALPA GFPGPFIFAD 450
SLSSVETLLT NIQGLLKVAL DNARIQEKQI QQEKKELRLE LYREREIREN 500
LERQLAVELQ SRTTMQKRLK KEKKTKRKLQ EALEFESKRR EQVEQALKQA 550
TTSDSGLRML KDTGIPDIEI ENNGTPHDSA AMQGGNYYCL EMAQQLYSA 599
Length:599
Mass (Da):65,323
Last modified:December 1, 2001 - v1
Checksum:i4EE435720A83BAA0
GO
Isoform 2 (identifier: Q96NX9-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:571
Mass (Da):61,947
Checksum:i9594DA631D3DA2A7
GO
Isoform 3 (identifier: Q96NX9-3) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:380
Mass (Da):41,772
Checksum:i1EB661514C165A0D
GO
Isoform 4 (identifier: Q96NX9-4) [UniParc]FASTAAdd to Basket

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

Show »
Length:432
Mass (Da):47,156
Checksum:i6A57F75AAE9BE15D
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 219219Missing in isoform 3. VSP_009492Add
BLAST
Alternative sequencei1 – 167167Missing in isoform 4. VSP_044275Add
BLAST
Alternative sequencei163 – 17513Missing in isoform 2. VSP_009490Add
BLAST
Alternative sequencei584 – 59916GGNYY…QLYSA → A in isoform 2. VSP_009491Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS14455.1. [Q96NX9-1]
CCDS48140.1. [Q96NX9-2]
CCDS55457.1. [Q96NX9-4]
RefSeqiNP_001132986.1. NM_001139514.1. [Q96NX9-2]
NP_001132987.1. NM_001139515.1. [Q96NX9-4]
NP_444511.1. NM_053281.3. [Q96NX9-1]
UniGeneiHs.86603.

Genome annotation databases

EnsembliENST00000373125; ENSP00000362217; ENSG00000126733. [Q96NX9-1]
ENST00000373131; ENSP00000362223; ENSG00000126733. [Q96NX9-2]
ENST00000508860; ENSP00000420896; ENSG00000126733. [Q96NX9-4]
ENST00000510272; ENSP00000421919; ENSG00000126733. [Q96NX9-3]
GeneIDi117154.
KEGGihsa:117154.
UCSCiuc004eew.2. human. [Q96NX9-1]
uc004eex.2. human. [Q96NX9-2]
uc004eez.3. human. [Q96NX9-3]

Polymorphism databases

DMDMi44887818.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS14455.1. [Q96NX9-1 ]
CCDS48140.1. [Q96NX9-2 ]
CCDS55457.1. [Q96NX9-4 ]
RefSeqi NP_001132986.1. NM_001139514.1. [Q96NX9-2 ]
NP_001132987.1. NM_001139515.1. [Q96NX9-4 ]
NP_444511.1. NM_053281.3. [Q96NX9-1 ]
UniGenei Hs.86603.

3D structure databases

ProteinModelPortali Q96NX9.
SMRi Q96NX9. Positions 66-162.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125560. 1 interaction.
STRINGi 9606.ENSP00000362217.

PTM databases

PhosphoSitei Q96NX9.

Polymorphism databases

DMDMi 44887818.

Proteomic databases

PaxDbi Q96NX9.
PRIDEi Q96NX9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000373125 ; ENSP00000362217 ; ENSG00000126733 . [Q96NX9-1 ]
ENST00000373131 ; ENSP00000362223 ; ENSG00000126733 . [Q96NX9-2 ]
ENST00000508860 ; ENSP00000420896 ; ENSG00000126733 . [Q96NX9-4 ]
ENST00000510272 ; ENSP00000421919 ; ENSG00000126733 . [Q96NX9-3 ]
GeneIDi 117154.
KEGGi hsa:117154.
UCSCi uc004eew.2. human. [Q96NX9-1 ]
uc004eex.2. human. [Q96NX9-2 ]
uc004eez.3. human. [Q96NX9-3 ]

Organism-specific databases

CTDi 117154.
GeneCardsi GC0XP085403.
HGNCi HGNC:16814. DACH2.
HPAi HPA000258.
MIMi 300608. gene.
neXtProti NX_Q96NX9.
PharmGKBi PA27135.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG279124.
HOGENOMi HOG000293309.
HOVERGENi HBG065810.
InParanoidi Q96NX9.
OMAi DCTNARR.
OrthoDBi EOG7ZKSCN.
PhylomeDBi Q96NX9.
TreeFami TF316697.

Miscellaneous databases

GeneWikii DACH2.
GenomeRNAii 117154.
NextBioi 80105.
PROi Q96NX9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96NX9.
Bgeei Q96NX9.
CleanExi HS_DACH2.
Genevestigatori Q96NX9.

Family and domain databases

Gene3Di 3.10.260.20. 1 hit.
InterProi IPR009061. DNA-bd_dom_put.
IPR003380. Transform_Ski.
[Graphical view ]
Pfami PF02437. Ski_Sno. 1 hit.
[Graphical view ]
SUPFAMi SSF46955. SSF46955. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 414-599 (ISOFORMS 1/3/4).
    Tissue: Brain.

Entry informationi

Entry nameiDACH2_HUMAN
AccessioniPrimary (citable) accession number: Q96NX9
Secondary accession number(s): B1AJV3
, B4DQG3, Q8NAY3, Q8ND17, Q96N55
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 99 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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