DCHS1 (dachsous cadherin-related 1)

2016-10-01  

Identity

HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
CDH19,CDH25,CDHR6,FIB1,MVP2,PCDH16,VMLDS1

Other Information

Locus ID:

NCBI: 8642
MIM: 603057
HGNC: 13681
Ensembl: ENSG00000166341

Variants:

dbSNP: 8642
ClinVar: 8642
TCGA: ENSG00000166341
COSMIC: DCHS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166341ENST00000299441Q96JQ0

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Hippo signaling pathway -multiple speciesKEGGko04392
Hippo signaling pathway -multiple speciesKEGGhsa04392

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
240567172013Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.76
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
262583022015Mutations in DCHS1 cause mitral valve prolapse.37
253559062014Giant cadherins Fat and Dachsous self-bend to organize properly spaced intercellular junctions.15
259300142016Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.5
270745792016The atypical cadherin Dachsous1 localizes to the base of the ciliary apparatus in airway epithelia.3
292242152018Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.2
295054542018A newborn diagnosed with van Maldergem syndrome.0

Citation

Dessen P

DCHS1 (dachsous cadherin-related 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56021/dchs1