CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3)

2012-11-01  

Identity

HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
ADGRC3,CDHF11,EGFL1,FMI1,HFMI1,MEGF2,RESDA1
FUSION GENES

Other Information

Locus ID:

NCBI: 1951
MIM: 604264
HGNC: 3230
Ensembl: ENSG00000008300

Variants:

dbSNP: 1951
ClinVar: 1951
TCGA: ENSG00000008300
COSMIC: CELSR3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000008300ENST00000164024Q9NYQ7

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
162732602005WNT/PCP signaling pathway and human cancer (review).118
204160942010Organ-, inflammation- and cancer specific transcriptional fingerprints of pancreatic and hepatic stellate cells.33
284726522017De Novo Coding Variants Are Strongly Associated with Tourette Disorder.30
302572062018De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.13
258138772015Celsr3 and Fzd3 in axon guidance.11
268382132016Involvement of CELSR3 Hypermethylation in Primary Oral Squamous Cell Carcinoma.5
253742362014Screening of differential promoter hypermethylated genes in primary oral squamous cell carcinoma.2
276191612016Deregulation of the planar cell polarity genes CELSR3 and FZD3 in Hirschsprung disease.2

Citation

Dessen P

CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52979/celsr3-(cadherin-egf-lag-seven-pass-g-type-receptor-3)