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PAPPA2 - pappalysin 2 Gene

Also Known as SSDA; PAPPE; PLAC3; PAPP-E; PAPP-A2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 60676

About PAPPA2

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:176,463,175-176,845,601 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues, 39 paralogues and is associated with 1 phenotype. Biased expression in placenta (RPKM 23.7), kidney (RPKM 2.2) and 1 other tissue.

Summary

This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

PAPPA2 Products (2)

mRNA	Protein	Name
NM_020318.3	NP_064714.2	pappalysin-2 isoform 1 precursor
NM_021936.3	NP_068755.2	pappalysin-2 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables metalloendopeptidase activity	EXP EXP: Inferred from Experiment	11513734	GOA
enables metallopeptidase activity	IDA IDA: Inferred from direct assay	11264294	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in proteolysis	IDA IDA: Inferred from direct assay	11264294	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PAPPA2 Protein Structure

Laminin_G_3

Notch

Peptidase_M43

Sushi

Notch

0
300
600
900
1200
1500
1791 a.a.

Protein Preferred Names	Protein Names
pappalysin-2	placenta-specific 3

Related Diseases

Diseases	Alias
Short Stature, Dauber-Argente Type	SSDA
Hellp Syndrome	Hemolysis, Elevated Liver Enzymes, Lowered Platelets Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet] Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Osmed Otospondylomegaepiphyseal Dysplasia Chondrodystrophy With Sensorineural Deafness Nance-Insley Syndrome Nance-Sweeney Chondrodysplasia OSMEDB Insley-Astley Syndrome Osmed Syndrome Mega-Epiphyseal Dwarfism Weissenbacher-Zweymuller Syndrome, Formerly Wzs, Formerly Nance Sweeney Chondrodysplasia Oto-Spondylo-Mega-Epiphyseal Dysplasia Oto-Spondylo-Megaepiphyseal Dysplasia Megaepiphyseal Dwarfism
Pre-Eclampsia	Preeclampsia Gestational Hypertension Hypertension Induced By Pregnancy Pre-Eclamptic Toxaemia Pregnancy Associated Hypertension Proteinuric Hypertension Of Pregnancy Hypertension, Pregnancy-Induced, Susceptibility To Preeclampsia/Eclampsia Pregnancy Toxemia Toxaemia Of Pregnancy Gestational Proteinuric Hypertension Pregnancy-Induced Hypertension Toxemia Of Pregnancy Preeclampsia, Susceptibility To Transient Hypertension Of Pregnancy Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria Gestational Hypertension Nos Mild Proteinuric Hypertension Of Pregnancy Pih - [Pregnancy-Induced Hypertension] Pregnancy-Induced Hypertension Nos Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria Pe - [Pre-Eclampsia] Pre-Eclampsia Nos Pre-Eclamptic Nos Pregnancy Pre-Eclampsia Puerperal Pre-Eclampsia Pre-Eclampsia Toxaemia Toxaemia In Pregnancy Pet - [Pre-Eclamptic Toxaemia] Maternal Toxaemia
Severe Pre-Eclampsia	Severe Preeclampsia Antepartum Severe Pre-Eclampsia Postpartum Severe Pre-Eclampsia Severe Pre-Eclampsia, With Delivery Severe Toxemia Severe Pre-Eclampsia, Antepartum Condition Or Complication Severe Pre-Eclampsia, Postpartum Condition Or Complication Severe Puerperal Pre-Eclampsia Severe Pre-Eclamptic Toxaemia Severe Pet - [Pre-Eclamptic Toxaemia]
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10029	PAPPA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PAPPA2	MGD	MGI:3051647
Canis familiaris	PAPPA2	VGNC	VGNC:44257
Felis catus	PAPPA2	VGNC	VGNC:64035
Bos taurus	PAPPA2	VGNC	VGNC:32573
Macaca mulatta	PAPPA2	VGNC	VGNC:75603
Rattus norvegicus	PAPPA2	RGD	RGD:1591785
Others	PAPPA2	NCBI