2. Gene
  3. PDE4DIP - phosphodiesterase 4D interacting protein Gene

PDE4DIP - phosphodiesterase 4D interacting protein Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷酸二酯酶 4D 相互作用蛋白

种属: Homo sapiens

同用名: MMGL; CMYA2

基因 ID: 9659 | 基因类型: protein coding

关于 PDE4DIP

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:148,808,434-149,033,016 (from NCBI)

This gene has 61 transcripts (splice variants), 276 orthologues, 1 paralogue and is associated with 101 phenotypes. Biased expression in heart (RPKM 86.3), brain (RPKM 18.4) and 10 other tissues.

功能概要

由该基因编码的蛋白质用于将磷酸二酯酶 4D 锚定到细胞的高尔基体/中心体区域。该基因的缺陷可能是与嗜酸性粒细胞增多相关的骨髓增生性疾病 (MBD) 的原因。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2010 年 8 月]

The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

PDE4DIP 基因产物(49)

mRNA Protein Name
NM_001002810.5 NP_001002810.1 myomegalin isoform 4
NM_001002811.3 NP_001002811.2 myomegalin isoform 5
NM_001002812.4 NP_001002812.2 myomegalin isoform 2
NM_001195260.2 NP_001182189.1 myomegalin isoform 6
NM_001195261.2 NP_001182190.1 myomegalin isoform 7
NM_001198832.4 NP_001185761.2 myomegalin isoform 8
NM_001198834.5 NP_001185763.3 myomegalin isoform 9
NM_001350520.2 NP_001337449.1 myomegalin isoform 10
NM_001350521.4 NP_001337450.1 myomegalin isoform 11
NM_001350522.3 NP_001337451.1 myomegalin isoform 12
NM_001350523.3 NP_001337452.1 myomegalin isoform 13
NM_001377392.2 NP_001364321.1 myomegalin isoform 14
NM_001377393.2 NP_001364322.1 myomegalin isoform 15
NM_001395297.1 NP_001382226.1 myomegalin isoform 16
NM_001395298.1 NP_001382227.1 myomegalin isoform 17
NM_001395299.1 NP_001382228.1 myomegalin isoform 18
NM_001395300.1 NP_001382229.1 myomegalin isoform 19
NM_001395301.1 NP_001382230.1 myomegalin isoform 20
NM_001395302.1 NP_001382231.1 myomegalin isoform 21
NM_001395303.1 NP_001382232.1 myomegalin isoform 22
NM_001395304.1 NP_001382233.1 myomegalin isoform 23
NM_001395305.1 NP_001382234.1 myomegalin isoform 24
NM_001395306.1 NP_001382235.1 myomegalin isoform 25
NM_001395307.1 NP_001382236.1 myomegalin isoform 26
NM_001395308.1 NP_001382237.1 myomegalin isoform 27
NM_001395309.1 NP_001382238.1 myomegalin isoform 28
NM_001395310.1 NP_001382239.1 myomegalin isoform 29
NM_001395311.1 NP_001382240.1 myomegalin isoform 30
NM_001395312.1 NP_001382241.1 myomegalin isoform 31
NM_001395313.1 NP_001382242.1 myomegalin isoform 32
NM_001395314.1 NP_001382243.1 myomegalin isoform 33
NM_001395315.1 NP_001382244.1 myomegalin isoform 34
NM_001395316.1 NP_001382245.1 myomegalin isoform 35
NM_001395317.1 NP_001382246.1 myomegalin isoform 36
NM_001395318.1 NP_001382247.1 myomegalin isoform 37
NM_001395319.1 NP_001382248.1 myomegalin isoform 38
NM_001395320.1 NP_001382249.1 myomegalin isoform 39
NM_001395321.1 NP_001382250.1 myomegalin isoform 40
NM_001395322.1 NP_001382251.1 myomegalin isoform 41
NM_001395323.1 NP_001382252.1 myomegalin isoform 42
NM_001395324.1 NP_001382253.1 myomegalin isoform 43
NM_001395325.1 NP_001382254.1 myomegalin isoform 44
NM_001395326.1 NP_001382255.1 myomegalin isoform 45
NM_001395327.1 NP_001382256.1 myomegalin isoform 46
NM_001395328.1 NP_001382257.1 myomegalin isoform 6
NM_001395329.1 NP_001382258.1 myomegalin isoform 6
NM_001395426.1 NP_001382355.1 myomegalin isoform 47
NM_014644.7 NP_055459.5 myomegalin isoform 1
NM_022359.8 NP_071754.3 myomegalin isoform 3
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 molecular adaptor activity IDA
IDA: 通过直接分析推断
27666745 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17923693 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in astral microtubule organization IMP
IMP: 通过突变表型推断
29162697 GOA
involved in positive regulation of microtubule nucleation IMP
IMP: 通过突变表型推断
29162697 GOA
involved in regulation of Golgi organization IDA
IDA: 通过直接分析推断
27666745 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
27666745 GOA
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
colocalizes with cortical microtubule plus-end IDA
IDA: 通过直接分析推断
29162697 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11374908 GOA
located in nucleus IDA
IDA: 通过直接分析推断
11374908 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

PDE4DIP 蛋白结构

Cnn_1N

Cnn_1N: Centrosomin N-terminal motif 1 (5 - 77)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (1562 - 1611)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2346 a.a.
蛋白主名 其他名称

myomegalin

cardiomyopathy-associated protein 2

关联疾病

疾病名称 别名
Adult Pineoblastoma
Adult Pineal Parenchymal Tumor

Adult Pineal Parenchymal Neoplasm
Breast Neuroendocrine Neoplasm

Neuroendocrine Tumor Of The Breast
Hydrolethalus Syndrome 1

Hydrolethalus Syndrome

HLS1

Salonen-Herva-Norio Syndrome

Hls

Hydrolethalus

Hydrolethalus Syndrome, Type 1
Cervical Large Cell Neuroendocrine Carcinoma
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10226 PDE4DIP Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21249 Pde4dip Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27766 Pde4dip Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PDE4DIP RGD RGD:708410
Felis catus PDE4DIP VGNC VGNC:108373
Mus musculus PDE4DIP MGD MGI:1891434
Bos taurus PDE4DIP VGNC VGNC:55072
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