PAPPA2 (pappalysin 2)

2014-11-01  

Identity

HGNC
PAPPA2
LOCATION
1q25.2
LOCUSID
60676
ALIAS
PAPP-A2,PAPP-E,PAPPE,PLAC3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 60676
HGNC: 14615
Ensembl: ENSG00000116183

Variants:

dbSNP: 60676
ClinVar: 60676
TCGA: ENSG00000116183
COSMIC: PAPPA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116183ENST00000367661Q9BXP8
ENSG00000116183ENST00000367662Q9BXP8

Expression (GTEx)

0
1
2
3
4
5
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
Metabolism of proteinsREACTOMER-HSA-392499
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)REACTOMER-HSA-381426

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
203047712010A meta-analysis of four genome-wide association studies of survival to age 90 years or older: the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.72
188182962009Severe preeclampsia-related changes in gene expression at the maternal-fetal interface include sialic acid-binding immunoglobulin-like lectin-6 and pappalysin-2.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
269022022016Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.31
201036532010Involvement of pregnancy-associated plasma protein-A2 in insulin-like growth factor (IGF) binding protein-5 proteolysis during pregnancy: a potential mechanism for increasing IGF bioavailability.28
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
194740582009Expression of pregnancy-associated plasma protein A2 during pregnancy in human and mouse.22
234845252014PAPPA2 is increased in severe early onset pre-eclampsia and upregulated with hypoxia.18
188058002008Increased levels of pregnancy-associated plasma protein-A2 in the serum of pre-eclamptic patients.17
183744112008Seven placental transcripts characterize HELLP-syndrome.16

Citation

Dessen P

PAPPA2 (pappalysin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71656/pappa2