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Protein

Cerebral cavernous malformations protein 2 homolog

Gene

Ccm2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Cerebral cavernous malformations protein 2 homolog
Alternative name(s):
MalcaverninBy similarity
Osmosensing scaffold for MEKK31 Publication
Gene namesi
Name:Ccm2
Synonyms:Osm
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 11

Organism-specific databases

MGIiMGI:2384924 Ccm2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894251 – 453Cerebral cavernous malformations protein 2 homologAdd BLAST453

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei15PhosphoserineBy similarity1
Modified residuei164PhosphoserineBy similarity1
Modified residuei393PhosphoserineCombined sources1
Modified residuei402PhosphoserineCombined sources1
Modified residuei403PhosphothreonineCombined sources1
Modified residuei405PhosphoserineCombined sources1
Modified residuei408PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8K2Y9
PRIDEiQ8K2Y9

PTM databases

iPTMnetiQ8K2Y9
PhosphoSitePlusiQ8K2Y9

Expressioni

Tissue specificityi

Highly expressed in heart, lower expression in kidney, lung and liver (at protein level).1 Publication

Developmental stagei

Expressed primarily in the developing neural tube at 10.5 dpc.1 Publication

Gene expression databases

BgeeiENSMUSG00000000378 Expressed in 310 organ(s), highest expression level in peripheral lymph node
CleanExiMM_CCM2
MM_OSM
ExpressionAtlasiQ8K2Y9 baseline and differential
GenevisibleiQ8K2Y9 MM

Interactioni

Subunit structurei

Part of a complex with MAP2K3, MAP3K3 and RAC1. Binds RAC1 directly and independently of its nucleotide-bound state. Interacts with PDCD10 (By similarity). Interacts with HEG1 and KRIT1; KRIT1 greatly facilitates the interaction with HEG1.By similarity2 Publications

Protein-protein interaction databases

BioGridi229755, 1 interactor
CORUMiQ8K2Y9
STRINGi10090.ENSMUSP00000000388

Structurei

3D structure databases

ProteinModelPortaliQ8K2Y9
SMRiQ8K2Y9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini59 – 248PIDPROSITE-ProRule annotationAdd BLAST190

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni292 – 385Harmonin homology domainAdd BLAST94

Domaini

The C-terminal region constitutes an independently folded domain that has structural similarity with the USH1C (harmonin) N-terminus, despite very low sequence similarity.By similarity

Sequence similaritiesi

Belongs to the CCM2 family.Curated

Phylogenomic databases

eggNOGiENOG410IHRT Eukaryota
ENOG410ZBNR LUCA
GeneTreeiENSGT00390000016168
HOGENOMiHOG000231916
HOVERGENiHBG054451
InParanoidiQ8K2Y9
OMAiAMLLHEY
OrthoDBiEOG091G08B3
PhylomeDBiQ8K2Y9
TreeFamiTF328517

Family and domain databases

CDDicd13516 HHD_CCM2, 1 hit
InterProiView protein in InterPro
IPR032375 CCM2_C
IPR026159 Malcavernin
IPR006020 PTB/PI_dom
PANTHERiPTHR21642 PTHR21642, 1 hit
PfamiView protein in Pfam
PF16545 CCM2_C, 1 hit
PROSITEiView protein in PROSITE
PS01179 PID, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8K2Y9-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MEEEGKKGKK PGIVSPFKRV FLKGEKSRDK KAHEKVTERR PLHTVVLALP
60 70 80 90 100
ERVEPDRLLS DYIEKEVKYL GQLTSIPGYL NPSSRTEILH FIDKAKRSHQ
110 120 130 140 150
LPGHLTQEHD AVLSLSAYNV KLAWRDGEDI ILRVPIHDIA AVSYVRDDAA
160 170 180 190 200
HLVVLKTAQD PGISPSQSLC AESSRGLSAG SLSESAVGPV EACCLVIMAT
210 220 230 240 250
ESKVAAEELC SLLSQVFQIV YTESTIDFLD RAIFDGASTP THHLSLHSDD
260 270 280 290 300
SSTKVDMKDS YDADASTFCF PDSGDVGGLP PLPFCMQTSP HSKTVSESEL
310 320 330 340 350
STSATELLQD YMLTLRTKLS SQEIQQFAAL LHEYRNGASI HEFCISLRQL
360 370 380 390 400
YGDSRKFLLL GLRPFIPEKD SQHFENFLET IGVKDGRGII TDSFGRHRRA
410 420 430 440 450
LSTTSTSTIN GNRTTGSPDD RSAPSEGDEW DRMISDISSD IEALGCSMDQ

DSA
Length:453
Mass (Da):49,917
Last modified:October 1, 2002 - v1
Checksum:i51F165291E52691F
GO
Isoform 2 (identifier: Q8K2Y9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MEEEGKKGKK → MENE
     279-287: Missing.

Show »
Length:438
Mass (Da):48,248
Checksum:iADD5A5CA486B38D5
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F7AVU1F7AVU1_MOUSE
Cerebral cavernous malformations pr...
Ccm2
389Annotation score:
E0CYY2E0CYY2_MOUSE
Cerebral cavernous malformations pr...
Ccm2
126Annotation score:
E0CXR5E0CXR5_MOUSE
Cerebral cavernous malformations pr...
Ccm2
243Annotation score:
E0CZ84E0CZ84_MOUSE
Cerebral cavernous malformations pr...
Ccm2
113Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0244041 – 10MEEEGKKGKK → MENE in isoform 2. Curated10
Alternative sequenceiVSP_024405279 – 287Missing in isoform 2. Curated9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY442689 mRNA Translation: AAR29082.1
AK155145 mRNA Translation: BAE33075.1
AL603787, AL646047 Genomic DNA Translation: CAI24218.1
AL603787, AL646047 Genomic DNA Translation: CAI24220.1
AL646047, AL603787 Genomic DNA Translation: CAI25990.1
AL646047, AL603787 Genomic DNA Translation: CAI25992.1
BC029157 mRNA Translation: AAH29157.1
CCDSiCCDS24422.1 [Q8K2Y9-1]
RefSeqiNP_666126.1, NM_146014.3 [Q8K2Y9-1]
UniGeneiMm.221271

Genome annotation databases

EnsembliENSMUST00000000388; ENSMUSP00000000388; ENSMUSG00000000378 [Q8K2Y9-1]
GeneIDi216527
KEGGimmu:216527
UCSCiuc007hyv.2 mouse [Q8K2Y9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY442689 mRNA Translation: AAR29082.1
AK155145 mRNA Translation: BAE33075.1
AL603787, AL646047 Genomic DNA Translation: CAI24218.1
AL603787, AL646047 Genomic DNA Translation: CAI24220.1
AL646047, AL603787 Genomic DNA Translation: CAI25990.1
AL646047, AL603787 Genomic DNA Translation: CAI25992.1
BC029157 mRNA Translation: AAH29157.1
CCDSiCCDS24422.1 [Q8K2Y9-1]
RefSeqiNP_666126.1, NM_146014.3 [Q8K2Y9-1]
UniGeneiMm.221271

3D structure databases

ProteinModelPortaliQ8K2Y9
SMRiQ8K2Y9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi229755, 1 interactor
CORUMiQ8K2Y9
STRINGi10090.ENSMUSP00000000388

PTM databases

iPTMnetiQ8K2Y9
PhosphoSitePlusiQ8K2Y9

Proteomic databases

PaxDbiQ8K2Y9
PRIDEiQ8K2Y9

Protocols and materials databases

DNASUi216527
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000000388; ENSMUSP00000000388; ENSMUSG00000000378 [Q8K2Y9-1]
GeneIDi216527
KEGGimmu:216527
UCSCiuc007hyv.2 mouse [Q8K2Y9-1]

Organism-specific databases

CTDi83605
MGIiMGI:2384924 Ccm2

Phylogenomic databases

eggNOGiENOG410IHRT Eukaryota
ENOG410ZBNR LUCA
GeneTreeiENSGT00390000016168
HOGENOMiHOG000231916
HOVERGENiHBG054451
InParanoidiQ8K2Y9
OMAiAMLLHEY
OrthoDBiEOG091G08B3
PhylomeDBiQ8K2Y9
TreeFamiTF328517

Miscellaneous databases

ChiTaRSiCcm2 mouse
PROiPR:Q8K2Y9
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000000378 Expressed in 310 organ(s), highest expression level in peripheral lymph node
CleanExiMM_CCM2
MM_OSM
ExpressionAtlasiQ8K2Y9 baseline and differential
GenevisibleiQ8K2Y9 MM

Family and domain databases

CDDicd13516 HHD_CCM2, 1 hit
InterProiView protein in InterPro
IPR032375 CCM2_C
IPR026159 Malcavernin
IPR006020 PTB/PI_dom
PANTHERiPTHR21642 PTHR21642, 1 hit
PfamiView protein in Pfam
PF16545 CCM2_C, 1 hit
PROSITEiView protein in PROSITE
PS01179 PID, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCCM2_MOUSE
AccessioniPrimary (citable) accession number: Q8K2Y9
Secondary accession number(s): Q5SUA3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 127 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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