DACH2

DACH2
Identifikatori
Aliasi	DACH2
Vanjski ID-jevi	OMIM: 300608 MGI: 1890446 HomoloGene: 33472 GeneCards: DACH2
Lokacija gena (čovjek) Hrom. Hromosom X Bend Xq21.2 Početak 86,148,451 bp Kraj 86,832,604 bp
Lokacija gena (miš) Hrom. Hromosom X (miš) Bend X E1|X 49.13 cM Početak 112,207,207 bp Kraj 112,746,083 bp
Ontologija gena Molekularna funkcija • vezivanje sa DNK • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • GO:0000983 RNA polymerase II general transcription initiation factor activity Ćelijska komponenta • jedro • transcription regulator complex Biološki proces • development of primary female sexual characteristics • transcription, DNA-templated • GO:0009373 regulation of transcription, DNA-templated • multicellular organism development • RNA polymerase II preinitiation complex assembly • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II • transcription by RNA polymerase II Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	117154	93837
Ensembl	ENSG00000126733	ENSMUSG00000025592
UniProt	Q96NX9	Q925Q8
RefSeq (mRNK)	NM_001139514 NM_001139515 NM_053281	NM_001142570 NM_001289732 NM_001289733 NM_001289734 NM_033605
RefSeq (bjelančevina)	NP_001132986 NP_001132987 NP_444511	NP_001136042 NP_001276661 NP_001276662 NP_001276663 NP_291083
Lokacija (UCSC)	Chr X: 86.15 – 86.83 Mb	Chr X: 112.21 – 112.75 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Jazavčarski homolog 2 je protein koji je kod ljudi kodiran genom DACH2.

Funkcija

Ovaj gen je jedan od dva gena koji kodiraju protein jazavčarskolikom proteinu Drosophila , faktor transkripcije uključenom u određivanje sudbine ćelija u oku, udu i genitalnom disku muhe. Kodirani protein sadrži dva karakteristična takva domena: N-krajev domen odgovoran za vezanje DNK i C-krajev domen odgovoran za interakcije protein-protein. Ovaj gen se nalazi na X hromosomu i podložan je inaktivaciji metilacijom DNK. Kodirani protein može biti uključen u regulaciju organogeneze i miogeneze i može imati ulogu u preranom otkazivanju jajnika.

Dopunska literatura

• 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" (Submitted manuscript). Genomics. 85 (6): 774–81. doi:10.1016/j.ygeno.2005.03.003. PMID 15885503.
• 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.