PCDH15 (protocadherin related 15)

2014-11-01 Affiliation

Identity

HGNC

PCDH15

LOCATION

10q21.1

LOCUSID

65217

ALIAS

CDHR15,DFNB23,USH1F

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 65217
MIM: 605514
HGNC: 14674
Ensembl: ENSG00000150275

Variants:

dbSNP: 65217
ClinVar: 65217
TCGA: ENSG00000150275
COSMIC: PCDH15

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000150275	ENST00000320301	Q96QU1
ENSG00000150275	ENST00000361849	A2A3E7
ENSG00000150275	ENST00000373955	Q96QU1
ENSG00000150275	ENST00000373956	E7EMG8
ENSG00000150275	ENST00000373957	A2A3D8
ENSG00000150275	ENST00000373965	A9Z1W1
ENSG00000150275	ENST00000395430	A2A3E6
ENSG00000150275	ENST00000395432	E7EMG0
ENSG00000150275	ENST00000395433	A2A3E8
ENSG00000150275	ENST00000395438	A2A3E3
ENSG00000150275	ENST00000395440	A2A3E5
ENSG00000150275	ENST00000395442	A2A3E1
ENSG00000150275	ENST00000395445	Q96QU1
ENSG00000150275	ENST00000395446	A2A3E4
ENSG00000150275	ENST00000409834	B7ZBT8
ENSG00000150275	ENST00000414367	E7EM97
ENSG00000150275	ENST00000414778	C9J4F3
ENSG00000150275	ENST00000437009	E7EM53
ENSG00000150275	ENST00000448885	E7EMG8
ENSG00000150275	ENST00000458638	A2A3D9
ENSG00000150275	ENST00000495484	A0A087WX70
ENSG00000150275	ENST00000612394	A0A087WZW3
ENSG00000150275	ENST00000613346	A0A087WXQ6
ENSG00000150275	ENST00000613657	A0A087WZN9
ENSG00000150275	ENST00000614895	A0A087WUA8
ENSG00000150275	ENST00000615043	A0A087WUC7
ENSG00000150275	ENST00000616114	Q96QU1
ENSG00000150275	ENST00000617051	A0A087X250
ENSG00000150275	ENST00000617271	A0A087WTR6
ENSG00000150275	ENST00000618301	A0A087WZN4
ENSG00000150275	ENST00000621708	A0A087X1T6
ENSG00000150275	ENST00000622048	A0A087WZ37
ENSG00000150275	ENST00000642496	A0A2R8YEV2
ENSG00000150275	ENST00000644397	A0A2R8Y6C0

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
18519826	2008	Molecular genetics of successful smoking cessation: convergent genome-wide association study results.	130
11487575	2001	Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.	97
14570705	2003	PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.	90
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
27918536	2017	Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders.	78
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	69
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
15660226	2005	Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.	53
16679490	2006	Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.	50

Citation

Dessen P

PCDH15 (protocadherin related 15)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71697/pcdh15