PCDH11X (protocadherin 11 X-linked)

2014-11-01  

Identity

HGNC
PCDH11X
LOCATION
Xq21.31
LOCUSID
27328
ALIAS
PCDH-X,PCDH-Y,PCDH11,PCDH11Y,PCDH22,PCDHX,PPP1R119
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27328
MIM: 300246
HGNC: 8656
Ensembl: ENSG00000102290

Variants:

dbSNP: 27328
ClinVar: 27328
TCGA: ENSG00000102290
COSMIC: PCDH11X

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102290ENST00000361655Q9BZA7
ENSG00000102290ENST00000373088Q9BZA7
ENSG00000102290ENST00000373094Q9BZA7
ENSG00000102290ENST00000373097Q9BZA7
ENSG00000102290ENST00000406881Q9BZA7
ENSG00000102290ENST00000504220Q9BZA7

Expression (GTEx)

0
1
2
3
4
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
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 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
191369492009Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.120
191369492009Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.120
185021032008The 'big bang' theory of the origin of psychosis and the faculty of language.49
168747622006Accelerated evolution of Protocadherin11X/Y: a candidate gene-pair for cerebral asymmetry and language.29
205745322010Intermediate phenotypes identify divergent pathways to Alzheimer's disease.24
245910812013Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia.13
227447062013Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains.9
205232612010PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility.8
205232612010PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility.8
236009752013The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiens.8

Citation

Dessen P

PCDH11X (protocadherin 11 X-linked)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71695/pcdh11x