CDHR1 (cadherin related family member 1)

2014-11-01  

Identity

HGNC
CDHR1
LOCATION
10q23.1
LOCUSID
92211
ALIAS
CORD15,PCDH21,PRCAD,RP65
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 92211
MIM: 609502
HGNC: 14550
Ensembl: ENSG00000148600

Variants:

dbSNP: 92211
ClinVar: 92211
TCGA: ENSG00000148600
COSMIC: CDHR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148600ENST00000332904Q96JP9
ENSG00000148600ENST00000372117A0A0A6YYA3
ENSG00000148600ENST00000622973A0A096LNP9
ENSG00000148600ENST00000623399A0A096LNV6
ENSG00000148600ENST00000623527Q96JP9
ENSG00000148600ENST00000623527F1T0L2
ENSG00000148600ENST00000624091A0A096LP91

Expression (GTEx)

0
50
100
150
200
250
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
retina
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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
200874192010Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.24
230449442012Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.24
208053712010Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.22
232337932012A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.13
301603562018A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.9
162881962005Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.8
162881962005Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.8
263503832015Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.8
242655412013Clinical characteristics of early retinal disease due to CDHR1 mutation.7

Citation

Dessen P

CDHR1 (cadherin related family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61650/cdhr1-(cadherin-related-family-member-1)