CCM2 - CCM2 scaffold protein Gene

Homo sapiens

Also known as OSM; C7orf22; PP10187

Gene ID: 83605 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16037064	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within endothelial tube morphogenesis	IMP IMP: Inferred from mutant phenotype	19151727	GOA
involved in vasculogenesis	IMP IMP: Inferred from mutant phenotype	14740320	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16037064	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

cerebral cavernous malformations 2 protein

CCM2 scaffolding protein

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02108	CCM2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS02109	CCM2L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.