Q6DRP4 · CCM2_DANRE
- ProteinCerebral cavernous malformations protein 2 homolog
- Geneccm2
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids455 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions. May also function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Biological Process | anterior/posterior axis specification | |
Biological Process | cardiac jelly development | |
Biological Process | cell-cell junction assembly | |
Biological Process | heart contraction | |
Biological Process | heart development | |
Biological Process | vasculogenesis |
Keywords
- Molecular function
Names & Taxonomy
Protein names
- Recommended nameCerebral cavernous malformations protein 2 homolog
- Alternative names
Gene names
Organism names
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Actinopterygii > Neopterygii > Teleostei > Ostariophysi > Cypriniformes > Danionidae > Danioninae > Danio
Accessions
- Primary accessionQ6DRP4
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Phenotypes & Variants
Disruption phenotype
The heart chambers in mutant animals are huge, constituted of a monolayered myocardium lined by endocardium.
Features
Showing features for mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 197 | Loss of function in heart development. Loss of HEG-binding. | ||||
Sequence: L → R |
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000089423 | 1-455 | Cerebral cavernous malformations protein 2 homolog | |||
Sequence: MEEDVKKVKKPGIVSPFKRVFLKGEKGRDKKALEKSTERRALHTFSLSLPDHRIDPDILLNDYIEKEVKYLGQLTSVPGYLNPSSRTEVLQLIDNARKSHQLAGQLTSEQDAVVSLSAYNVKLVWRDGEDIILRVPIHDIAAVSYIRDDSLHLVVLKTAQEPGGSPCHSTEMSKSPTLSSLSESGAVLVEVCCLLVLAVDNKAAAEELCLLLSQVFQIVYTESTIDFLDRAIFDGATTPTRHLSIYSEDSSSKVDVKDVFEAEASTFSFQSSLEAGHSSSPSPTSAPASPQTKTASESELSTTAAELLQDYMTTLRTKLSSKEIQQFATLLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRYKRTTSSASDSTTNGNGAAGGSDEGTATSEGDEWDRMISDISNDIEALGSSMDQDGVPS |
Proteomic databases
Expression
Developmental stage
Expressed in the ventricular zone of the brain at 28 hours post fertilization (hpf) and, at lower levels, in the posterior cardinal vein and in the posterior intermediate inner cell mass. At 48 hpf, still detected in the vein. At 28 and 48 hpf, expressed at low levels in a region near the dorsal aorta.
Gene expression databases
Interaction
Subunit
Part of a complex with MAP2K3, MAP3K3 and RAC1. Binds RAC1 directly and independently of its nucleotide-bound state (By similarity).
Interacts with HEG1 and KRIT1; KRIT1 greatly facilitates the interaction with HEG1
Interacts with HEG1 and KRIT1; KRIT1 greatly facilitates the interaction with HEG1
Protein-protein interaction databases
Structure
Family & Domains
Features
Showing features for domain, region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 60-247 | PID | ||||
Sequence: LNDYIEKEVKYLGQLTSVPGYLNPSSRTEVLQLIDNARKSHQLAGQLTSEQDAVVSLSAYNVKLVWRDGEDIILRVPIHDIAAVSYIRDDSLHLVVLKTAQEPGGSPCHSTEMSKSPTLSSLSESGAVLVEVCCLLVLAVDNKAAAEELCLLLSQVFQIVYTESTIDFLDRAIFDGATTPTRHLSIYS | ||||||
Region | 272-299 | Disordered | ||||
Sequence: SLEAGHSSSPSPTSAPASPQTKTASESE | ||||||
Region | 292-385 | Harmonin homology domain | ||||
Sequence: TKTASESELSTTAAELLQDYMTTLRTKLSSKEIQQFATLLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKD | ||||||
Compositional bias | 399-419 | Polar residues | ||||
Sequence: RTTSSASDSTTNGNGAAGGSD | ||||||
Region | 399-432 | Disordered | ||||
Sequence: RTTSSASDSTTNGNGAAGGSDEGTATSEGDEWDR |
Domain
The C-terminal region constitutes an independently folded domain that has structural similarity with the USH1C (harmonin) N-terminus, despite very low sequence similarity.
Sequence similarities
Belongs to the CCM2 family.
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q6DRP4-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length455
- Mass (Da)49,827
- Last updated2004-08-16 v1
- Checksum463DE4DFD566071C
Q6DRP4-2
- Name2
- Differences from canonical
- 362-455: Missing
Features
Showing features for sequence conflict, alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 319 | in Ref. 3; AAH92812 | ||||
Sequence: L → P | ||||||
Alternative sequence | VSP_015804 | 362-455 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 399-419 | Polar residues | ||||
Sequence: RTTSSASDSTTNGNGAAGGSD |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
DQ677878 EMBL· GenBank· DDBJ | ABG29499.1 EMBL· GenBank· DDBJ | mRNA | ||
AY648715 EMBL· GenBank· DDBJ | AAT68033.1 EMBL· GenBank· DDBJ | mRNA | ||
BC092812 EMBL· GenBank· DDBJ | AAH92812.1 EMBL· GenBank· DDBJ | mRNA |