PCDH12 (protocadherin 12)

2014-11-01  

Identity

HGNC
PCDH12
LOCATION
5q31.3
LOCUSID
51294
ALIAS
DMJDS1,VE-cadherin-2,VECAD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51294
MIM: 605622
HGNC: 8657
Ensembl: ENSG00000113555

Variants:

dbSNP: 51294
ClinVar: 51294
TCGA: ENSG00000113555
COSMIC: PCDH12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113555ENST00000231484Q9NPG4
ENSG00000113555ENST00000510041E5RJD4

Expression (GTEx)

0
5
10
15
20
25
30
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
190545712009Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.18
190545712009Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.18
271646832016Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.7
214027052011Protocadherin-12 cleavage is a regulated process mediated by ADAM10 protein: evidence of shedding up-regulation in pre-eclampsia.6
301784642018Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.3
299041132018A commentary on a case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.0
304594662019Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.0

Citation

Dessen P

PCDH12 (protocadherin 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71696/pcdh12