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  2. PAPPA2 - pappalysin 2 Gene

PAPPA2 - pappalysin 2 Gene

中文名称:冠毛素 2

种属: Homo sapiens

同用名: SSDA; PAPPE; PLAC3; PAPP-E; PAPP-A2

基因 ID: 60676 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 metzincin 金属蛋白酶的冠毛素家族成员。编码的蛋白质切割胰岛素样生长因子结合蛋白 5,被认为是胰岛素样生长因子 (IGF) 生物利用度的局部调节剂。可变剪接导致多个转录本变体。[RefSeq 提供,2010 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables metalloendopeptidase activity EXP
EXP: 通过实验结果推断
11513734 GOA
enables metallopeptidase activity IDA
IDA: 通过直接分析推断
11264294 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in proteolysis IDA
IDA: 通过直接分析推断
11264294 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PAPPA2 蛋白结构

Laminin_G_3

Laminin_G_3: Concanavalin A-like lectin/glucanases superfamily (264 - 436)

Notch

Notch: LNR domain (585 - 613)

Peptidase_M43

Peptidase_M43: Pregnancy-associated plasma protein-A (679 - 830)

Sushi

Sushi: Sushi repeat (SCR repeat) (1525 - 1590)

Notch

Notch: LNR domain (1728 - 1759)

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  • 1791 a.a.
蛋白主名 其他名称

pappalysin-2

placenta-specific 3

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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