GeneID: 189
Names
Common Name: | DCHS2 | Type: | Gene |
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Chromosome: | 4 (NC_000004.12) | Locus: | N/A |
HUGO Symbol: | DCHS2 | Full Name: | dachsous cadherin-related 2 |
Exons: | 25 | Introns: | 24 |
Description:
The DCHS2 gene encodes dachsous 2, a large calcium-dependent cell-adhesion protein that belongs to the cadherin superfamily. DCHS2 features 27 extracellular cadherin repeats, a single-pass transmembrane and an intracellular domain. It was first identified in Drosophila, with key roles in tissue morphogenesis and growth control. It is an essential component of planar cell polarity and an upstream regulator of the Warts/Hippo signalling pathway that controls organ growth. It participates in a regulatory network controlling cartilage differentiation and polarity during vertebrate craniofacial development. A polymorphism located in the DCHS2 gene that is expressed in the cerebral cortex associated with Alzhemier's disease progression. Another polymorphism associated with HbF response to hydroxyurea in patients with sickle cell disease, while the cellular mechanism involved is currently unknown.
Synonyms: CDHJ , CDH27 , CDHR7 , PCDHJ , PCDH23
Comments:
N/A
Number of entries/variants: 1
IthaScore
Sequence Viewer
Publications / Origin
- Clark HF, Brentrup D, Schneitz K, Bieber A, Goodman C, Noll M, Dachsous encodes a member of the cadherin superfamily that controls imaginal disc morphogenesis in Drosophila., Genes Dev. , 9(12), 1530-42, 1995 PubMed
- Zecca M, Struhl G, A feed-forward circuit linking wingless, fat-dachsous signaling, and the warts-hippo pathway to Drosophila wing growth., PLoS Biol. , 8(6), e1000386, 2010 PubMed
- Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed
- Le Pabic P, Ng C, Schilling TF, Fat-Dachsous signaling coordinates cartilage differentiation and polarity during craniofacial development., PLoS Genet. , 10(10), e1004726, 2014 PubMed
- Miyashita A, Hatsuta H, Kikuchi M, Nakaya A, Saito Y, Tsukie T, Hara N, Ogishima S, Kitamura N, Akazawa K, Kakita A, Takahashi H, Murayama S, Ihara Y, Ikeuchi T, Kuwano R, , Genes associated with the progression of neurofibrillary tangles in Alzheimer's disease., Transl Psychiatry , 4(0), e396, 2014 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2016-10-18 17:08:57 | The IthaGenes Curation Team | Created |