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DACH2

Identifiers

DACH2, dachshund family transcription factor 2

External IDs

OMIM: 300608; MGI: 1890446; HomoloGene: 33472; GeneCards: DACH2; OMA:DACH2 - orthologs

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	Xq21.2	Start	86,148,451 bp^[1]
Band	Xq21.2	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]
Band	X E1\|X 49.13 cM	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

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

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.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

This page was last edited on 31 July 2023, at 15:12

DACH2

From Wikipedia, the free encyclopedia

Function

References

Further reading