CCM2L - CCM2 like scaffold protein Gene

Homo sapiens

Also known as C20orf160; dJ310O13.5

Gene ID: 140706 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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-like

CCM2 like scaffolding protein

CCM2L Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

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

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 (1)

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

Orthologs Information

Species	Symbol	Source	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

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