CCM2L - CCM2 like scaffold protein Gene

Also Known as C20orf160; dJ310O13.5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 140706

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 References 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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 Set / 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
Others CCM2L NCBI