CCM2 - CCM2 scaffold protein Gene

中文名称：CCM2 支架蛋白

种属: Homo sapiens

同用名: OSM; C7orf22; PP10187

基因 ID: 83605 | 基因类型: protein coding

关于 CCM2

Cytogenetic location: 7p13 Genomic coordinates (GRCh38): 7:44,999,746-45,076,470 (from NCBI)

This gene has 20 transcripts (splice variants), 204 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 10.3), spleen (RPKM 8.5) and 25 other tissues.

功能概要

该基因编码一种支架蛋白，该蛋白在应激激活的 p38 丝裂原活化蛋白激酶 (MAPK) 信号级联中发挥作用。该蛋白通过磷酸酪氨酸结合域与 SMAD 特异性 E3 泛素蛋白连接酶 1 (也称为 SMURF1) 相互作用，以促进 RhoA 降解。该蛋白质是正常细胞骨架结构、细胞间相互作用和内皮细胞内腔形成所必需的。该基因的突变会导致脑海绵状血管畸形。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 11 月]

This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein Ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]

CCM2 基因产物(6)

mRNA	Protein	Name
NM_001029835.2	NP_001025006.1	cerebral cavernous malformations 2 protein isoform 1
NM_001167934.2	NP_001161406.1	cerebral cavernous malformations 2 protein isoform 3
NM_001167935.2	NP_001161407.1	cerebral cavernous malformations 2 protein isoform 4
NM_001363458.2	NP_001350387.1	cerebral cavernous malformations 2 protein isoform 5
NM_001363459.2	NP_001350388.1	cerebral cavernous malformations 2 protein isoform 6
NM_031443.4	NP_113631.1	cerebral cavernous malformations 2 protein isoform 2

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	16037064	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within endothelial tube morphogenesis	IMP IMP: 通过突变表型推断	19151727	GOA
involved in vasculogenesis	IMP IMP: 通过突变表型推断	14740320	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	16037064	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

CCM2 scaffolding protein

CCM2 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
种属内	CCM2	Q9BSQ5	TLNRD1	Homo sapiens	Q9H1K6	Validated Y2H	32296183
种属内	CCM2	Q9BSQ5	KRIT1	Homo sapiens	O00522	Anti Tag CoIP	33961781
种属内	CCM2	Q9BSQ5	KRIT1	Homo sapiens	O00522	Anti Tag CoIP	23007647
种属内	CCM2	Q9BSQ5	KRIT1	Homo sapiens	O00522	Anti Tag CoIP	17657516
种属内	CCM2	Q9BSQ5	KRIT1	Homo sapiens	O00522	Y2H Array	25814554
种属内	CCM2	Q9BSQ5	TWIST2	Homo sapiens	Q8WVJ9	Y2H Array	25814554
种属内	CCM2	Q9BSQ5	TWIST2	Homo sapiens	Q8WVJ9	Lumier	25814554
种属内	CCM2	Q9BSQ5	RIN1	Homo sapiens	Q13671	Anti Tag CoIP	33961781
种属内	CCM2	Q9BSQ5	DOK4	Homo sapiens	Q8TEW6	Validated Y2H	25814554
种属内	CCM2	Q9BSQ5	DOK4	Homo sapiens	Q8TEW6	Lumier	25814554
种属内	CCM2	Q9BSQ5	PDCD10	Homo sapiens	Q9BUL8	Pull Down	23266514
种属内	CCM2	Q9BSQ5	VSTM2L	Homo sapiens	Q96N03	Y2H Array	25814554

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

Cerebral Cavernous Malformation, Familial

Familial Cerebral Cavernous Malformation	Familial Cavernous Hemangioma
Familial Cerebral Cavernous Angioma	Familial Brain Cavernous Angioma
Familial Cerebral Cavernoma	Hereditary Brain Cavernous Angioma
Hereditary Cerebral Cavernoma	Hereditary Cerebral Cavernous Malformation

Cavernous Hemangioma

Hemangioma, Cavernous	Cavernoma
Cavernous Haemangioma

Cerebrocostomandibular Syndrome

Cerebro-Costo-Mandibular Syndrome	CCMS
Rib Gap Defects With Micrognathia	Ccm Syndrome

Brain Angioma

Brain Hemangioma

Cerebral Angioma

Hemangioma Of Cerebrum

Cerebral Hemangioma

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome	KTS
Ktw Syndrome	Angioosteohypertrophy Syndrome
Angio-Osteohypertrophy Syndrome	Klippel Trenaunay Syndrome
Klippel-Trénaunay-Weber Syndrome	Haemangiectatic Hypertrophy
Weber-Klippel-Trenaunay	Congenital Dysplastic Angiopathy
Klippel-Trenaunay Disease	Weber Klippel Trenaunay

Intracranial Cavernous Angioma

Intracranial Cavernoma

Intracranial Cavernous Hemangioma

Intracranial Structure Hemangioma

Angioma Of Intracranial Structure	Hemangioma Of Intracranial Structure
Hemangioma Of Intracranial Structures

Hemorrhage, Intracerebral

Intracerebral Hemorrhage	Hemorrhagic Stroke
ICH	Hemorrhage, Intracerebral, Susceptibility To
Stroke, Hemorrhagic	Stroke, Hemorrhagic, Susceptibility To
Brain Hemorrhage

Venous Malformations, Multiple Cutaneous And Mucosal

VMCM	Multiple Cutaneous And Mucosal Venous Malformations
Mucocutaneous Venous Malformations	Vmcm1
Cutaneous And Mucosal Venous Malformation	Dominantly Inherited Venous Malformations

Hemangioma Of Liver

Hepatic Hemangioma	Angioma Of Liver
Hepatic Angioma

Vascular Disease

Vascular Diseases	Aneurysm
Spinal Cord Ischemia	Vascular Anomaly
Spinal Cord Vascular Diseases	Vascular Tissue Disease

Cerebral Cavernous Malformations 3

Cerebral Cavernous Malformation 3	CCM3
Cerebral Cavernous Malformations-3	Cavernous Angiomatous Malformations
Cavernous Hemangioma Of The Brain	Cerebral Capillary Malformations
Cerebral Cavernoma	Familial Cavernous Angioma
Cerebral Cavernous Malformations, Type 3

3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

MCC2D	Mcc2 Deficiency
3-Methylcrotonyl Coa Carboxylase 2 Deficiency	3-Methylcrotonylglycinuria Ii
Methylcrotonylglycinuria, Type Ii	3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency
3-Methylcrotonylglycinuria Type Ii	Mcgii
Methylcrotonylglycinuria Type Ii

Hemorrhagic Disease

Hemorrhagic Disorders	Hemorrhagic Diathesis
Hemorrhagic Diseases	Bleeding Tendency
Acquired Coagulation Factor Inhibitor Disorder	Acquired Inhibitor Of Coagulation
Antithrombinaemia	Antithromboplastinogenaemia
Circulating Anticoagulant Disorder	Haemorrhagic Disorder Due To Antithrombinaemia
Haemorrhagic Disorder Due To Excess Administered Heparin	Antithromboplastinaemia
Haemorrhagic Disorder Due To Hyperheparinemia

Arteriovenous Malformation

Arteriovenous Malformations	Arteriovenous Hemangioma
Cirsoid Aneurysm	Racemose Aneurysm
Racemose Angioma	Racemose Hemangioma
Congenital Arteriovenous Malformation

Sturge-Weber Syndrome

SWS	Encephalotrigeminal Angiomatosis
Encephalofacial Angiomatosis	Sturge-Weber-Dimitri Syndrome
Sturge-Weber-Krabbe Syndrome	Fourth Phacomatosis
Leptomeningeal Angiomatosis	Meningeal Capillary Angiomatosis
Sturge-Weber-Krabbe Angiomatosis	Sturge-Weber Syndrome, Somatic, Mosaic
Sws Type I - Facial And Leptomeningeal Angiomas	Sws Type Ii - Facial Angioma Alone, No Cns Involvement
Sws Type Iii - Isolated Leptomeningeal Angiomas	Sturge Weber Syndrome
Angiomatosis Aculoorbital-Thalamic Syndrome	Encephalofacial Hemangiomatosis
Encephalofacial Hemangiomatosis Syndrome	Meningo-Oculo-Facial Angiomatosis
Meningofacial Angiomatosis-Cerebral Calcification Syndrome	Neuroretinoangiomatosis
Phakomatosis, Sturge-Weber	Weber-Sturge-Dimitri 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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02108	CCM2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS02109	CCM2L Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CCM2	RGD	RGD:1308067
Macaca mulatta	CCM2	VGNC	VGNC:70835
Felis catus	CCM2	VGNC	VGNC:69371
Bos taurus	CCM2	VGNC	VGNC:26954
Mus musculus	CCM2	MGD	MGI:2384924
Canis familiaris	CCM2	VGNC	VGNC:38891

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CCM2 - CCM2 scaffold protein Gene

关于 CCM2

功能概要

CCM2 基因产物(6)

CCM2 蛋白互作信息

关联疾病

直系同源

热门区域

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CCM2 - CCM2 scaffold protein Gene

关于 CCM2

功能概要

CCM2 基因产物(6)

CCM2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z