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
373993142024Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.1
373993142024Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.1
360531892023De novo DCHS1 splicing mutation in a patient with mitral valve prolapse.0
367972292023Structure of the planar cell polarity cadherins Fat4 and Dachsous1.1
360531892023De novo DCHS1 splicing mutation in a patient with mitral valve prolapse.0
367972292023Structure of the planar cell polarity cadherins Fat4 and Dachsous1.1
322954622020DCHS1 DNA copy number loss associated with pediatric urinary tract infection risk.2
322954622020DCHS1 DNA copy number loss associated with pediatric urinary tract infection risk.2
313585362019Dchs1-Fat4 regulation of osteogenic differentiation in mouse.12
313585362019Dchs1-Fat4 regulation of osteogenic differentiation in mouse.12
292242152018Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.7
295054542018A newborn diagnosed with van Maldergem syndrome.0
292242152018Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.7
295054542018A newborn diagnosed with van Maldergem syndrome.0
259300142016Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.7

Citation

Dessen P

DCHS1 (dachsous cadherin-related 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56021/dchs1-(dachsous-cadherin-related-1)