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Protein

Dachshund homolog 2

Gene

DACH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.By similarity

Caution

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Dachshund homolog 2
Short name:
Dach2
Gene namesi
Name:DACH2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000126733.20
HGNCiHGNC:16814 DACH2
MIMi300608 gene
neXtProtiNX_Q96NX9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi117154
OpenTargetsiENSG00000126733
PharmGKBiPA27135

Polymorphism and mutation databases

BioMutaiDACH2
DMDMi44887818

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000955991 – 599Dachshund homolog 2Add BLAST599

Proteomic databases

EPDiQ96NX9
PaxDbiQ96NX9
PeptideAtlasiQ96NX9
PRIDEiQ96NX9

PTM databases

iPTMnetiQ96NX9
PhosphoSitePlusiQ96NX9

Expressioni

Gene expression databases

BgeeiENSG00000126733
CleanExiHS_DACH2
ExpressionAtlasiQ96NX9 baseline and differential
GenevisibleiQ96NX9 HS

Organism-specific databases

HPAiHPA000258

Interactioni

Subunit structurei

Interacts with SIX6 and EYA2.By similarity

Protein-protein interaction databases

BioGridi1255607 interactors.
STRINGi9606.ENSP00000362217

Structurei

3D structure databases

ProteinModelPortaliQ96NX9
SMRiQ96NX9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni69 – 155DACHbox-NAdd BLAST87
Regioni453 – 533DACHbox-CAdd BLAST81

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili459 – 554Sequence analysisAdd BLAST96

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi56 – 61Poly-Gly6
Compositional biasi350 – 353Poly-Ala4

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.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3915 Eukaryota
ENOG4111FAG LUCA
GeneTreeiENSGT00390000001134
HOGENOMiHOG000293309
HOVERGENiHBG065810
InParanoidiQ96NX9
OMAiMAQQFYS
OrthoDBiEOG091G06DV
PhylomeDBiQ96NX9
TreeFamiTF316697

Family and domain databases

Gene3Di3.10.260.201 hit
InterProiView protein in InterPro
IPR009061 DNA-bd_dom_put_sf
IPR003380 SKI/SNO/DAC
IPR037000 Ski_DNA-bd_sf
PfamiView protein in Pfam
PF02437 Ski_Sno, 1 hit
SUPFAMiSSF46955 SSF46955, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MAVSASPVIS ATSSGAGVPG GLFRAEPLYS TPREPPRLTP NMINSFVVNN
60 70 80 90 100
HSNSAGGGGR GNTNTNECRM VDMHGMKVAS FLMDGQELIC LPQVFDLFLK
110 120 130 140 150
HLVGGLHTVY TKLKRLDISP VVCTVEQVRI LRGLGAIQPG VNRCKLITRK
160 170 180 190 200
DFETLFTDCT NARRKRQMTR KQAVNSSRPG RPPKRSLGVL QENARLLTHA
210 220 230 240 250
VPGLLSPGLI TPTGITAAAM AEAMKLQKMK LMAMNTLQGN GSQNGTESEP
260 270 280 290 300
DDLNSNTGGS ESSWDKDKMQ SPFAAPGPQH GIAHAALAGQ PGIGGAPTLN
310 320 330 340 350
PLQQNHLLTN RLDLPFMMMP HPLLPVSLPP ASVAMAMNQM NHLNTIANMA
360 370 380 390 400
AAAQIHSPLS RAGTSVIKER IPESPSPAPS LEENHRPGSQ TSSHTSSSVS
410 420 430 440 450
SSPSQMDHHL ERMEEVPVQI PIMKSPLDKI QLTPGQALPA GFPGPFIFAD
460 470 480 490 500
SLSSVETLLT NIQGLLKVAL DNARIQEKQI QQEKKELRLE LYREREIREN
510 520 530 540 550
LERQLAVELQ SRTTMQKRLK KEKKTKRKLQ EALEFESKRR EQVEQALKQA
560 570 580 590
TTSDSGLRML KDTGIPDIEI ENNGTPHDSA AMQGGNYYCL EMAQQLYSA
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)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0094921 – 219Missing in isoform 3. 1 PublicationAdd BLAST219
Alternative sequenceiVSP_0442751 – 167Missing in isoform 4. 1 PublicationAdd BLAST167
Alternative sequenceiVSP_009490163 – 175Missing in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_009491584 – 599GGNYY…QLYSA → A in isoform 2. 1 PublicationAdd BLAST16

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF428101 mRNA Translation: AAL26561.1
AK055953 mRNA Translation: BAB71054.1
AK091842 mRNA Translation: BAC03761.1
AK298787 mRNA Translation: BAG60925.1
AL390058 Genomic DNA No translation available.
AL023095 Genomic DNA No translation available.
AL109752 Genomic DNA No translation available.
AL034406 Genomic DNA No translation available.
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]
XP_016884745.1, XM_017029256.1 [Q96NX9-2]
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.3 human [Q96NX9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiDACH2_HUMAN
AccessioniPrimary (citable) accession number: Q96NX9
Secondary accession number(s): B1AJV3
, B4DQG3, Q8NAY3, Q8ND17, Q96N55
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: December 1, 2001
Last modified: March 28, 2018
This is version 124 of the entry and version 1 of the sequence. See 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