PCDH11X (protocadherin 11 X-linked)

2014-11-01 Affiliation

Identity

HGNC

PCDH11X

LOCATION

Xq21.31

LOCUSID

27328

ALIAS

PCDH-X,PCDH-Y,PCDH11,PCDH11Y,PCDH22,PCDHX,PPP1R119

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: 27328
MIM: 300246
HGNC: 8656
Ensembl: ENSG00000102290

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000102290	ENST00000361655	Q9BZA7
ENSG00000102290	ENST00000373088	Q9BZA7
ENSG00000102290	ENST00000373094	Q9BZA7
ENSG00000102290	ENST00000373097	Q9BZA7
ENSG00000102290	ENST00000406881	Q9BZA7
ENSG00000102290	ENST00000504220	Q9BZA7

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
22744706	2013	Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains.	11
23600975	2013	The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiens.	11
24591081	2013	Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia.	17
22744706	2013	Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains.	11
23600975	2013	The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiens.	11
24591081	2013	Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia.	17
21276771	2011	Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease.	10
21276771	2011	Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease.	10
19859901	2010	Quantitative analysis of alternative transcripts of human PCDH11X/Y genes.	6
20523261	2010	PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility.	13
20523261	2010	PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility.	13
20555150	2010	Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients.	4
20555150	2010	Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients.	4
20574532	2010	Intermediate phenotypes identify divergent pathways to Alzheimer's disease.	0
20707987	2010	Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population.	5

Citation

Dessen P

PCDH11X (protocadherin 11 X-linked)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71695/pcdh11x-(protocadherin-11-x-linked)