CCM2 - CCM2 scaffold protein Gene

Also Known as OSM; C7orf22; PP10187

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83605

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	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16037064	GOA

Biological Process GO Annotation	Evidence	Références	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	Références	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

CCM2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CCM2	Q9BSQ5	TLNRD1	Homo sapiens	Q9H1K6	Validated Y2H	32296183
Intra	CCM2	Q9BSQ5	KRIT1	Homo sapiens	O00522	Anti Tag CoIP	33961781
Intra	CCM2	Q9BSQ5	KRIT1	Homo sapiens	O00522	Anti Tag CoIP	23007647
Intra	CCM2	Q9BSQ5	KRIT1	Homo sapiens	O00522	Anti Tag CoIP	17657516
Intra	CCM2	Q9BSQ5	KRIT1	Homo sapiens	O00522	Y2H Array	25814554
Intra	CCM2	Q9BSQ5	TWIST2	Homo sapiens	Q8WVJ9	Y2H Array	25814554
Intra	CCM2	Q9BSQ5	TWIST2	Homo sapiens	Q8WVJ9	Lumier	25814554
Intra	CCM2	Q9BSQ5	RIN1	Homo sapiens	Q13671	Anti Tag CoIP	33961781
Intra	CCM2	Q9BSQ5	DOK4	Homo sapiens	Q8TEW6	Validated Y2H	25814554
Intra	CCM2	Q9BSQ5	DOK4	Homo sapiens	Q8TEW6	Lumier	25814554
Intra	CCM2	Q9BSQ5	PDCD10	Homo sapiens	Q9BUL8	Pull Down	23266514
Intra	CCM2	Q9BSQ5	VSTM2L	Homo sapiens	Q96N03	Y2H Array	25814554

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS02108	CCM2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02109	CCM2L Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CCM2	NCBI