1. Gene
  2. ELMO2 - engulfment and cell motility 2 Gene

ELMO2 - engulfment and cell motility 2 Gene

中文名称:吞噬和细胞运动 2

种属: Homo sapiens

同用名: VMPI; CED12; CED-12; ELMO-2; Ced-12A

基因 ID: 63916 | 基因类型: protein coding

关于 ELMO2

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:46,366,050-46,406,615 (from NCBI)

This gene has 18 transcripts (splice variants), 204 orthologues, 5 paralogues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 20.6), testis (RPKM 16.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质与细胞分裂蛋白 1 的奉献者相互作用。与秀丽隐杆线虫蛋白质的相似性表明该蛋白质可能在凋亡细胞的吞噬作用和细胞迁移中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 12 月]

The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ELMO2 基因产物(3)

mRNA Protein Name
NM_001318253.2 NP_001305182.1 engulfment and cell motility protein 2 isoform b
NM_133171.5 NP_573403.1 engulfment and cell motility protein 2 isoform a
NM_182764.3 NP_877496.1 engulfment and cell motility protein 2 isoform a
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 protein binding IPI
IPI: 通过物理相互作用推断
20679435 GOA
enables receptor tyrosine kinase binding IPI
IPI: 通过物理相互作用推断
20679435 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell chemotaxis IMP
IMP: 通过突变表型推断
20679435 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
20679435 GOA
located in membrane IDA
IDA: 通过直接分析推断
20679435 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

ELMO2 蛋白结构

DUF3361

DUF3361: Domain of unknown function (DUF3361) (114 - 273)

ELMO_CED12

ELMO_CED12: ELMO/CED-12 family (293 - 475)

  • 0
  • 200
  • 400
  • 600
  • 720 a.a.
蛋白主名 其他名称

engulfment and cell motility protein 2

PH domain protein CED12A

关联疾病

疾病名称 别名
Vascular Malformation, Primary Intraosseous

Primary Intraosseous Venous Malformation

Vascular Malformation Osseous

VMOS

Hemangioma, Intraosseous

VMPI

Intraosseous Hemangioma

Osseous Venous Malformation

Intraosseous Haemangiomas

Ramon Syndrome

Cherubism, Gingival Fibromatosis, Epilepsy, Mental Deficiency, Hypertrichosis, And Stunted Growth

Gingival Fibromatosis Combined With Cherubism

Cherubism-Gingival Fibromatosis-Intellectual Disability Syndrome

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

Rdeb, Hallopeau-Siemens Type

Severe Generalized Rdeb

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

Rdeb Generalisata Gravis

Rdeb, Severe Generalized

Rdeb-Sev Gen

Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized

Hallopeau-Siemens Disease

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 ELMO2 VGNC VGNC:28439
Canis familiaris ELMO2 VGNC VGNC:40310
Mus musculus ELMO2 MGD MGI:2153045
Felis catus ELMO2 VGNC VGNC:61816
Rattus norvegicus ELMO2 RGD RGD:1305784
Macaca mulatta ELMO2 VGNC VGNC:72059