PYCR2 (pyrroline-5-carboxylate reductase 2)

2017-04-01  

Identity

HGNC
PYCR2
LOCATION
1q42.12
LOCUSID
29920
ALIAS
HLD10,P5CR2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29920
MIM: 616406
HGNC: 30262
Ensembl: ENSG00000143811

Variants:

dbSNP: 29920
ClinVar: 29920
TCGA: ENSG00000143811
COSMIC: PYCR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143811ENST00000343818Q96C36
ENSG00000143811ENST00000343818A0A0S2Z5U6
ENSG00000143811ENST00000472798A0A087WX69
ENSG00000143811ENST00000489681A0A087WZF0
ENSG00000143811ENST00000612039A0A087WTV6
ENSG00000143811ENST00000612651A0A087WZR9

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

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
Arginine and proline metabolismKEGGhsa00330
Metabolic pathwaysKEGGhsa01100
Proline biosynthesis, glutamate => prolineKEGGhsa_M00015
Proline biosynthesis, glutamate => prolineKEGGM00015
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amino acid synthesis and interconversion (transamination)REACTOMER-HSA-70614

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
267333542016PYCR1 and PYCR2 Interact and Collaborate with RRM2B to Protect Cells from Overt Oxidative Stress.21
258654922015Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.15
271302552016PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.6
266347422016Downregulation of pyrroline-5-carboxylate reductase-2 induces the autophagy of melanoma cells via AMPK/mTOR pathway.4

Citation

Dessen P

PYCR2 (pyrroline-5-carboxylate reductase 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56827/pycr2