PAPPA2 - pappalysin 2 Gene

Homo sapiens

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

Gene ID: 60676 | Gene type: protein coding

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	Reference	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	Reference	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

Bioactive Molecules (1)

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

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