PPP1R21 (protein phosphatase 1 regulatory subunit 21)

2014-11-01  

Identity

HGNC
PPP1R21
LOCATION
2p16.3
LOCUSID
129285
ALIAS
CCDC128,KLRAQ1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 129285
MIM: 618159
HGNC: 30595
Ensembl: ENSG00000162869

Variants:

dbSNP: 129285
ClinVar: 129285
TCGA: ENSG00000162869
COSMIC: PPP1R21

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162869ENST00000281394Q6ZMI0
ENSG00000162869ENST00000294952Q6ZMI0
ENSG00000162869ENST00000416913F8WE40
ENSG00000162869ENST00000421486F8W7E1
ENSG00000162869ENST00000431614F8WBY8
ENSG00000162869ENST00000449090Q6ZMI0
ENSG00000162869ENST00000455978H7C1Y1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
383561492024Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.0
383561492024Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.0
366927082023A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.1
366927082023A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.1
305205712019Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.14
305205712019Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.14
298084982018PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.4
298084982018PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.4

Citation

Dessen P

PPP1R21 (protein phosphatase 1 regulatory subunit 21)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72144/teaching-explorer/gene-fusions-explorer/css/template-card.css