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  2. PDE3A - phosphodiesterase 3A Gene

PDE3A - phosphodiesterase 3A Gene

中文名称:磷酸二酯酶 3A

种属: Homo sapiens

同用名: HTNB; CGI-PDE; CGI-PDE A; CGI-PDE-A

基因 ID: 5139 | 基因类型: protein coding

关于 PDE3A

Cytogenetic location: 12p12.2 Genomic coordinates (GRCh38): 12:20,368,537-20,688,583 (from NCBI)

This gene has 3 transcripts (splice variants), 258 orthologues, 20 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 15.7), placenta (RPKM 7.2) and 17 other tissues.

功能概要

该基因编码 cGMP 抑制的环核苷酸磷酸二酯酶 (cGI-PDE) 家族的成员。 cGI-PDE 酶水解 cAMP 和 cGMP,并通过调节细胞内环核苷酸信号的幅度和持续时间在许多细胞过程中发挥关键作用。编码的蛋白质介导血小板聚集,并通过调节血管平滑肌收缩和松弛在心血管功能中发挥重要作用。所编码蛋白质的抑制剂可有效治疗充血性心力衰竭。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 9 月]

This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE Enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

PDE3A 基因产物(5)

mRNA Protein Name
NM_001378407.1 NP_001365336.1 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 3
NM_001244683.2 NP_001231612.1 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 2
NM_000921.5 NP_000912.3 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 1
NM_001378408.1 NP_001365337.1 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 4
NM_001378409.1 NP_001365338.1 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 5
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 3',5'-cGMP-inhibited cyclic-nucleotide phosphodiesterase activity IDA
IDA: 通过直接分析推断
8155697 GOA
enables 3',5'-cyclic-AMP phosphodiesterase activity IDA
IDA: 通过直接分析推断
8155697 GOA
enables 3',5'-cyclic-GMP phosphodiesterase activity IDA
IDA: 通过直接分析推断
8155697 GOA
enables 3',5'-cyclic-nucleotide phosphodiesterase activity IDA
IDA: 通过直接分析推断
27975297 GOA
enables estrogen binding IDA
IDA: 通过直接分析推断
31420216 GOA
enables nuclear estrogen receptor activity IDA
IDA: 通过直接分析推断
31420216 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19332778 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in apoptotic signaling pathway IDA
IDA: 通过直接分析推断
31420216 GOA
involved in apoptotic signaling pathway IMP
IMP: 通过突变表型推断
31420216 GOA
involved in cAMP-mediated signaling IMP
IMP: 通过突变表型推断
17704206 GOA
involved in cGMP-mediated signaling IMP
IMP: 通过突变表型推断
17704206 GOA
involved in cellular response to cGMP IDA
IDA: 通过直接分析推断
17704206 GOA
involved in cellular response to transforming growth factor beta stimulus IEP
IEP: 通过表达模式推断
17704206 GOA
involved in negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
IMP: 通过突变表型推断
19252089 GOA
involved in negative regulation of vascular permeability IMP
IMP: 通过突变表型推断
17704206 GOA
involved in positive regulation of vascular permeability IMP
IMP: 通过突变表型推断
17704206 GOA
involved in regulation of ribonuclease activity IDA
IDA: 通过直接分析推断
34272366 GOA
involved in regulation of ribonuclease activity IMP
IMP: 通过突变表型推断
35104454 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
35104454 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

PDE3A 蛋白结构

PDEase_I

PDEase_I: 3'5'-cyclic nucleotide phosphodiesterase (821 - 1016)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1141 a.a.
蛋白主名 其他名称

cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A

cAMP phosphodiesterase, myocardial cGMP-inhibited

cGMP-inhibited 3',5'-cyclic phosphodiesterase A

cGMP-inhibited cAMP phosphodiesterase

cyclic GMP-inhibited phosphodiesterase A

phosphodiesterase 3A, cGMP-inhibited

重组 PDE3A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75961 PDE3A Protein, Human (sf9, His-GST) Q14432 (K669-Q1141) ≥95%

关联疾病

疾病名称 别名
Brachydactyly
Osseous Heteroplasia, Progressive

Progressive Osseous Heteroplasia

POH

Osteoma Cutis

Familial Ectopic Ossification

Ectopic Ossification Familial Type

Ectopic Ossification

Heterotopic Ossification

Ectopic Ossification, Familial

Cutaneous Ossification

Myositis Ossificans Progressiva

Osteodermia

Osteosis Cutis

Ossification Heterotopic

Heteroplasia, Osseous, Progressive

Fibrodysplasia Ossificans Progressiva

Impotence

Erectile Dysfunction

Sexual Impotence

Erectile Dysfunction Adverse Event

Acrodysostosis

Acrodysplasia

Arkless-Graham Syndrome

Maroteaux-Malamut Syndrome

Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome

Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome

Chromosome 2q37 Deletion Syndrome

Albright Hereditary Osteodystrophy-Like Syndrome

2q37 Microdeletion Syndrome

Brachydactyly-Intellectual Disability Syndrome

Deletion 2q37

2q37 Deletion Syndrome

Brachydactyly-Mental Retardation Syndrome

Bdmr

Albright Hereditary Osteodystrophy Type 3

Del(2)(Q37)

Monosomy 2q37qter

Albright'S Hereditary Osteodystrophy-Like Syndrome

Monosomy 2q37

Chromosome Deletion Syndrome 2q37

Tooth Ankylosis

Ankylosis Of Teeth

Ankylosis Of Tooth

Severe Congenital Neutropenia 8

Autosomal Dominant Severe Congenital Neutropenia 8 With Or Without Pancreatic Dysfunction And/Or Neurological Abnormalities

Scn8

Sdsl

Shwachman-Diamond Syndrome-Like

Pseudopseudohypoparathyroidism

PPHP

Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

Normocalcemic Pseudohypoparathyroidism

Aho-Pphp Syndrome

Albright Hereditary Osteodystrophy-Pphp Syndrome

Pseudohypoparathyroidism

Hypertension And Brachydactyly Syndrome

Brachydactyly With Hypertension

Bilginturan Syndrome

HTNB

Brachydactyly-Arterial Hypertension Syndrome

Brachydactyly, Type E, With Short Stature And Hypertension

Bilginturan Brachydactyly

Brachydactyly Type E With Short Stature And Hypertension

Type E Brachydactyly With Short Stature And Hypertension

Brachydactyly Type E, With Short Stature And Hypertension

Hypertension With Brachydactyly

Congestive Heart Failure

Congestive Heart Disease

Heart Failure

Cardiac Failure Congestive

Chf

Weak Heart

Heart Failure Congestive

Ccf - [Congestive Cardiac Failure]

Chf - [Congestive Heart Failure]

Congestive Cardiac Diseases

Congested Heart Failure

Congestive Cardiac Failure

Cardiac Anasarca

Cardiac Oedema

Cardiac Stasis

Cardiovascular Oedema

Cardiac Hydrops

Congestive Failure

Heart Congestion

Heart Fluid

Oedematous Heart

Pseudohypoparathyroidism, Type Ia

Albright'S Hereditary Osteodystrophy

Albright Hereditary Osteodystrophy

Pseudohypoparathyroidism Type 1a

PHP1A

Albright Hereditary Osteodystrophy With Multiple Hormone Resistance

Pseudohypoparathyroidism Ia

AHO

Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy

Pseudo-Pseudohypoparathyroidism

Pseudohypoparathyroidism Type I A

Php Ia

Pseudopseudohypoparathyroidism

Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

Pphp

Pseudopseudo-Hypoparathyroidism

Aho-Php Syndrome Ia

Albright Hereditary Osteodystrophy-Php Syndrome Ia

Pseudohypoparathyroidism 1a

Pseudohypoparathyroidism

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Hypothyroidism, Congenital, Nongoitrous, 1

Tsh Resistance

CHNG1

Hypothyroidism Due To Tsh Receptor Mutations

Thyrotropin Resistance

Rtsh

Hypothyroidism Due To Unresponsiveness To Thyrotropin

Congenital Nongoitrous Hypothyroidism 1

Thyroid-Stimulating Hormone

Thyroid-Stimulating Hormone, Resistance To

Hypothyroidism, Nonautoimmune

Hypothyroidism, Congenital, Due To Tsh Resistance

Hypothyroidism, Congenital, Non-Goitrous, 1

Congenital Hypothyroidism Due To Tsh Resistance

Non-Autoimmune Hypothyroidism

Thyroid-Stimulating Hormone Resistance

Hypothyroidism, Congenital, Nongoitrous, Type 1

Hypothyroidism, Congenital, Nongoitrous, 3

Thyroid Hormone Resistance Syndrome

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
Bos taurus PDE3A VGNC VGNC:54467
Macaca mulatta PDE3A VGNC VGNC:75913
Canis familiaris PDE3A VGNC VGNC:44352
Felis catus PDE3A VGNC VGNC:68756
Mus musculus PDE3A MGD MGI:1860764
Rattus norvegicus PDE3A RGD RGD:61942
Others PDE3A NCBI