PAPPA2 (pappalysin 2)

2014-11-01 Affiliation

Identity

HGNC

PAPPA2

LOCATION

1q25.2

LOCUSID

60676

ALIAS

PAPP-A2,PAPP-E,PAPPE,PLAC3

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 60676
HGNC: 14615
Ensembl: ENSG00000116183

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000116183	ENST00000367661	Q9BXP8
ENSG00000116183	ENST00000367662	Q9BXP8

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	REACTOME	R-HSA-381426

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
34476481	2022	Dynamic Changes in Serum IGF-I and Growth During Infancy: Associations to Body Fat, Target Height, and PAPPA2 Genotype.	4
34476481	2022	Dynamic Changes in Serum IGF-I and Growth During Infancy: Associations to Body Fat, Target Height, and PAPPA2 Genotype.	4
33783375	2021	Associations of plasma PAPP-A2 and genetic variations with salt sensitivity, blood pressure changes and hypertension incidence in Chinese adults.	8
34116346	2021	Serum Inhibin-A and PAPP-A2 in the prediction of pre-eclampsia during the first and second trimesters in high-risk women.	3
34203285	2021	Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip.	7
34272725	2021	Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family.	4
33783375	2021	Associations of plasma PAPP-A2 and genetic variations with salt sensitivity, blood pressure changes and hypertension incidence in Chinese adults.	8
34116346	2021	Serum Inhibin-A and PAPP-A2 in the prediction of pre-eclampsia during the first and second trimesters in high-risk women.	3
34203285	2021	Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip.	7
34272725	2021	Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family.	4
31961798	2020	Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood.	9
31994005	2020	Uteroplacental Ischemia Is Associated with Increased PAPP-A2.	4
32004755	2020	Netazepide Inhibits Expression of Pappalysin 2 in Type 1 Gastric Neuroendocrine Tumors.	6
32739295	2020	Disorders caused by genetic defects associated with GH-dependent genes: PAPPA2 defects.	8
32990126	2020	PAPP-A2 and Inhibin A as Novel Predictors for Pregnancy Complications in Women With Suspected or Confirmed Preeclampsia.	9

Citation

Dessen P

PAPPA2 (pappalysin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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