1. Gene
  2. CCM2L - CCM2 like scaffold protein Gene

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
Protein Preferred Names Protein Names

cerebral cavernous malformations 2 protein-like

CCM2 like 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

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

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