1. Gene
  2. CCM2L - CCM2 like scaffold protein Gene

CCM2L - CCM2 like scaffold protein Gene

中文名称:CCM2 样支架蛋白

种属: Homo sapiens

同用名: C20orf160; dJ310O13.5

基因 ID: 140706 | 基因类型: protein coding

关于 CCM2L

This gene has 2 transcripts (splice variants), 222 orthologues and 1 paralogue. Biased expression in spleen (RPKM 38.8), fat (RPKM 5.9) and 2 other tissues.

功能概要

预计在几个过程的上游或内部起作用,包括心脏发育;同型细胞-细胞粘附的负调控;和成纤维细胞生长因子产生的正调节。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to act upstream of or within several processes, including heart development; negative regulation of homotypic cell-cell adhesion; and positive regulation of Fibroblast Growth Factor production. [provided by Alliance of Genome Resources, Apr 2022]

CCM2L 基因产物(2)

mRNA Protein Name
NM_001365692.1 NP_001352621.1 cerebral cavernous malformations 2 protein-like isoform 1
NM_080625.4 NP_542192.2 cerebral cavernous malformations 2 protein-like isoform 2
基因本体论
  • 分子功能
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
32296183 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
蛋白主名 其他名称

cerebral cavernous malformations 2 protein-like

CCM2 like scaffolding protein

CCM2L 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra CCM2L Q9NUG4 PBX4 Homo sapiens Q9BYU1
Y2H Prey Pooling
32296183
Intra CCM2L Q9NUG4 PBX4 Homo sapiens Q9BYU1
Y2H Array
32296183
Intra CCM2L Q9NUG4 CAMK2B Homo sapiens Q13554-3
Y2H Prey Pooling
32296183
Intra CCM2L Q9NUG4 CAMK2B Homo sapiens Q13554-3
Y2H Array
32296183
Intra CCM2L Q9NUG4 USE1 Homo sapiens Q9NZ43
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cerebral Cavernous Malformations 2

Cerebral Cavernous Malformation 2

CCM2

Cerebral Cavernous Malformations-2

Cavernous Angiomatous Malformations

Cavernous Hemangioma Of The Brain

Cerebral Capillary Malformations

Cerebral Cavernoma

Familial Cavernous Angioma

Cerebral Cavernous Malformations, Type 2

Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2

Cerebrocostomandibular Syndrome

Cerebro-Costo-Mandibular Syndrome

CCMS

Rib Gap Defects With Micrognathia

Ccm Syndrome

Hemangioma Of Liver

Hepatic Hemangioma

Angioma Of Liver

Hepatic Angioma

Corneal Dystrophy, Posterior Polymorphous, 3

Posterior Polymorphous Corneal Dystrophy 3

PPCD3

Dystrophy, Corneal, Posterior Polymorphous, Type 3

Pseudo-Torch Syndrome 1

Pseudo-Torch Syndrome

Band-Like Calcification With Simplified Gyration And Polymicrogyria

Blcpmg

PTORCH1

Baraitser-Brett-Piesowicz Syndrome

Baraitser-Reardon Syndrome

Bilateral Band-Like Calcification With Polymicrogyria

Blc-Pmg

Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome

Congenital Intrauterine Infection-Like Syndrome

Baraitser Brett Piesowicz Syndrome

Microcephaly - Intracranial Calcification - Intellectual Disability

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
Macaca mulatta CCM2L VGNC VGNC:84564
Bos taurus CCM2L VGNC VGNC:26955
Mus musculus CCM2L MGD MGI:2385159
Canis familiaris CCM2L VGNC VGNC:54616
Rattus norvegicus CCM2L RGD RGD:1305202
Felis catus CCM2L VGNC VGNC:60545