PREPL (prolyl endopeptidase like)

2007-02-01  

Identity

HGNC
PREPL
LOCATION
2p21
LOCUSID
9581
ALIAS
CMS22
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9581
MIM: 609557
HGNC: 30228
Ensembl: ENSG00000138078

Variants:

dbSNP: 9581
ClinVar: 9581
TCGA: ENSG00000138078
COSMIC: PREPL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138078ENST00000260648Q4J6C6
ENSG00000138078ENST00000378511Q4J6C6
ENSG00000138078ENST00000378520Q4J6C6
ENSG00000138078ENST00000409272Q4J6C6
ENSG00000138078ENST00000409411Q4J6C6
ENSG00000138078ENST00000409936Q4J6C6
ENSG00000138078ENST00000409957Q4J6C6
ENSG00000138078ENST00000410081Q4J6C6
ENSG00000138078ENST00000420756H7C0M0
ENSG00000138078ENST00000425263Q4J6C6
ENSG00000138078ENST00000426481Q4J6C6
ENSG00000138078ENST00000438314C9JMT4
ENSG00000138078ENST00000444696H7BZP6
ENSG00000138078ENST00000541738Q4J6C6

Expression (GTEx)

0
50
100
150
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
371471102023Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis.1
371471102023Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis.1
327076432020A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.3
327076432020A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.3
294836762018The second point mutation in PREPL: a case report and literature review.9
294836762018The second point mutation in PREPL: a case report and literature review.9
237942502013Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.11
237942502013Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.11
227960002012Two novel deletions in hypotonia-cystinuria syndrome.6
227960002012Two novel deletions in hypotonia-cystinuria syndrome.6
195757982009Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.8
195757982009Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.8
182347292008Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.18
182347292008Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.18
163854482006Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.36

Citation

Dessen P

PREPL (prolyl endopeptidase like)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46598