PCDHA1 (protocadherin alpha 1)

2014-11-01  

Identity

HGNC
PCDHA1
LOCATION
5q31.3
LOCUSID
56147
ALIAS
PCDH-ALPHA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56147
MIM: 606307
HGNC: 8663
Ensembl: ENSG00000204970

Variants:

dbSNP: 56147
ClinVar: 56147
TCGA: ENSG00000204970
COSMIC: PCDHA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204970ENST00000378133Q9Y5I3
ENSG00000204970ENST00000394633Q9Y5I3
ENSG00000204970ENST00000504120Q9Y5I3

Expression (GTEx)

0
1
2
3
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
232044372012CTCF/cohesin-mediated DNA looping is required for protocadherin α promoter choice.84
184962072008Analysis of protocadherin alpha gene deletion variant in bipolar disorder and schizophrenia.8
184962072008Analysis of protocadherin alpha gene deletion variant in bipolar disorder and schizophrenia.8

Citation

Dessen P

PCDHA1 (protocadherin alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71704/pcdha1