DACH2

DACH2
Identifiers
Aliases	DACH2 , dachshund family transcription factor 2
External IDs	OMIM: 300608 MGI: 1890446 HomoloGene: 33472 GeneCards: DACH2
Gene location (Human) Chr. X chromosome (human) [1] Band Xq21.2 Start 86,148,451 bp [1] End 86,832,604 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X E1|X 49.13 cM Start 112,207,207 bp [2] End 112,746,083 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 middle temporal gyrus entorhinal cortex superior frontal gyrus postcentral gyrus nucleus accumbens hippocampus proper prefrontal cortex dorsolateral prefrontal cortex Top expressed in vas deferens saccule digastric muscle iris medial ganglionic eminence urachus stria vascularis sternocleidomastoid muscle thoracic diaphragm conjunctival fornix More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II general transcription initiation factor activity Cellular component nucleus transcription regulator complex Biological process development of primary female sexual characteristics transcription, DNA-templated regulation of transcription, DNA-templated multicellular organism development RNA polymerase II preinitiation complex assembly regulation of transcription by RNA polymerase II transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 117154 93837 Ensembl ENSG00000126733 ENSMUSG00000025592 UniProt Q96NX9 Q925Q8 RefSeq (mRNA) NM_001139514 NM_001139515 NM_053281 NM_001142570 NM_001289732 NM_001289733 NM_001289734 NM_033605 RefSeq (protein) NP_001132986 NP_001132987 NP_444511 NP_001136042 NP_001276661 NP_001276662 NP_001276663 NP_291083 Location (UCSC) Chr X: 86.15 – 86.83 Mb Chr X: 112.21 – 112.75 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Dachshund homolog 2 is a protein that in humans is encoded by the DACH2 gene. ^[5]

Function

This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure.

References

1. GRCh38: Ensembl release 89: ENSG00000126733 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025592 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Multiple transcript variants encoding different isoforms have been found for this gene. "Entrez Gene: Dachshund homolog 2 (Drosophila)" . Retrieved 2012-04-15.

Further reading

• Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, Battaglia R, Marozzi A, Vegetti W, Dalprà L, Crosignani PG, Ginelli E, Nappi R, Bernabini S, Bruni V, Torricelli F, Zuffardi O, Toniolo D (Dec 2004). "Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B". Human Reproduction. 19 (12): 2759–66. doi: 10.1093/humrep/deh502 . PMID   15459172.
• Poulin F, Nobrega MA, Plajzer-Frick I, Holt A, Afzal V, Rubin EM, Pennacchio LA (Jun 2005). "In vivo characterization of a vertebrate ultraconserved enhancer". Genomics. 85 (6): 774–81. doi:10.1016/j.ygeno.2005.03.003. PMID   15885503. S2CID   21888183.
• Davis RJ, Shen W, Sandler YI, Heanue TA, Mardon G (Apr 2001). "Characterization of mouse Dach2, a homologue of Drosophila dachshund". Mechanisms of Development. 102 (1–2): 169–79. doi: 10.1016/s0925-4773(01)00307-0 . PMID   11287190.
• Aikawa Y, Nguyen LA, Isono K, Takakura N, Tagata Y, Schmitz ML, Koseki H, Kitabayashi I (Sep 2006). "Roles of HIPK1 and HIPK2 in AML1- and p300-dependent transcription, hematopoiesis and blood vessel formation". The EMBO Journal. 25 (17): 3955–65. doi:10.1038/sj.emboj.7601273. PMC   1560355 . PMID   16917507.
• Prueitt RL, Chen H, Barnes RI, Zinn AR (2002). "Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes". Cytogenetic and Genome Research. 97 (1–2): 32–8. doi:10.1159/000064052. PMID   12438735. S2CID   8347100.