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Q9BSQ5

- CCM2_HUMAN

UniProt

Q9BSQ5 - CCM2_HUMAN

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Protein
Malcavernin
Gene
CCM2, C7orf22, PP10187
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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 By similarity. May 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 - Molecular functioni

  1. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. blood vessel endothelial cell differentiation Source: Ensembl
  2. cell-cell junction organization Source: Ensembl
  3. endothelial cell development Source: Ensembl
  4. endothelial tube morphogenesis Source: MGI
  5. in utero embryonic development Source: Ensembl
  6. inner ear development Source: Ensembl
  7. integrin-mediated signaling pathway Source: UniProtKB
  8. multicellular organism growth Source: Ensembl
  9. pericardium development Source: Ensembl
  10. stress-activated MAPK cascade Source: UniProtKB
  11. vasculogenesis Source: UniProtKB
  12. venous blood vessel morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Malcavernin
Alternative name(s):
Cerebral cavernous malformations 2 protein
Gene namesi
Name:CCM2
Synonyms:C7orf22
ORF Names:PP10187
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:21708. CCM2.

Subcellular locationi

Cytoplasm By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. protein complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Cerebral cavernous malformations 2 (CCM2) [MIM:603284]: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti198 – 1981L → R in CCM2. 1 Publication
VAR_023577
Natural varianti215 – 2151Q → H in CCM2; associated with Q-229. 1 Publication
VAR_067352
Natural varianti229 – 2291L → Q in CCM2; associated with H-215. 1 Publication
VAR_067353

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi603284. phenotype.
Orphaneti221061. Hereditary cerebral cavernous malformation.
PharmGKBiPA26145.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 444444Malcavernin
PRO_0000089424Add
BLAST

Proteomic databases

MaxQBiQ9BSQ5.
PaxDbiQ9BSQ5.
PRIDEiQ9BSQ5.

PTM databases

PhosphoSiteiQ9BSQ5.

Expressioni

Gene expression databases

ArrayExpressiQ9BSQ5.
BgeeiQ9BSQ5.
CleanExiHS_CCM2.
GenevestigatoriQ9BSQ5.

Organism-specific databases

HPAiHPA020273.
HPA021669.

Interactioni

Subunit structurei

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 By similarity. Interacts with PDCD10.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
KRIT1O005223EBI-1573056,EBI-1573121
PDCD10Q9BUL85EBI-1573056,EBI-740195

Protein-protein interaction databases

BioGridi123696. 4 interactions.
IntActiQ9BSQ5. 4 interactions.
MINTiMINT-8404420.
STRINGi9606.ENSP00000370503.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi288 – 2914
Helixi293 – 30614
Turni307 – 3093
Helixi312 – 32615
Helixi331 – 34212
Helixi344 – 35613
Helixi359 – 37113

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4FQNX-ray1.90A/B/C/D283-379[»]
ProteinModelPortaliQ9BSQ5.
SMRiQ9BSQ5. Positions 283-376.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini59 – 248190PID
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni283 – 37694Harmonin homology domain
Add
BLAST

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.1 Publication

Sequence similaritiesi

Belongs to the CCM2 family.
Contains 1 PID domain.

Phylogenomic databases

eggNOGiNOG39125.
HOGENOMiHOG000231916.
HOVERGENiHBG054451.
OMAiDSFGRHR.
OrthoDBiEOG7SFHXM.
PhylomeDBiQ9BSQ5.
TreeFamiTF328517.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR026159. Malcavernin.
IPR011993. PH_like_dom.
IPR006020. PTB/PI_dom.
[Graphical view]
PANTHERiPTHR21642. PTHR21642. 1 hit.
PROSITEiPS01179. PID. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BSQ5-1) [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

MEEEGKKGKK PGIVSPFKRV FLKGEKSRDK KAHEKVTERR PLHTVVLSLP    50
ERVEPDRLLS DYIEKEVKYL GQLTSIPGYL NPSSRTEILH FIDNAKRAHQ 100
LPGHLTQEHD AVLSLSAYNV KLAWRDGEDI ILRVPIHDIA AVSYVRDDAA 150
HLVVLKTAQD PGISPSQSLC AESSRGLSAG SLSESAVGPV EACCLVILAA 200
ESKVAAEELC CLLGQVFQVV YTESTIDFLD RAIFDGASTP THHLSLHSDD 250
SSTKVDIKET YEVEASTFCF PESVDVGGAS PHSKTISESE LSASATELLQ 300
DYMLTLRTKL SSQEIQQFAA LLHEYRNGAS IHEFCINLRQ LYGDSRKFLL 350
LGLRPFIPEK DSQHFENFLE TIGVKDGRGI ITDSFGRHRR ALSTTSSSTT 400
NGNRATGSSD DRSAPSEGDE WDRMISDISS DIEALGCSMD QDSA 444
Length:444
Mass (Da):48,837
Last modified:June 1, 2001 - v1
Checksum:i43F9C153B4DE460E
GO
Isoform 2 (identifier: Q9BSQ5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MEEEGKKGKK → MHSSCRQRRNQNLSKEIPQTEFHTGYSMENE

Show »
Length:465
Mass (Da):51,413
Checksum:iDA0E03C39B7DABE3
GO
Isoform 3 (identifier: Q9BSQ5-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     158-248: Missing.

Note: Gene prediction based on EST data.

Show »
Length:353
Mass (Da):39,460
Checksum:iDC6158E93D3376CE
GO
Isoform 4 (identifier: Q9BSQ5-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     11-68: Missing.

Note: Gene prediction based on EST data.

Show »
Length:386
Mass (Da):42,073
Checksum:iF1BA46DBF72FF047
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531V → I.1 Publication
Corresponds to variant rs2107732 [ dbSNP | Ensembl ].
VAR_023575
Natural varianti120 – 1201V → I.1 Publication
Corresponds to variant rs11552377 [ dbSNP | Ensembl ].
VAR_023576
Natural varianti198 – 1981L → R in CCM2. 1 Publication
VAR_023577
Natural varianti215 – 2151Q → H in CCM2; associated with Q-229. 1 Publication
VAR_067352
Natural varianti229 – 2291L → Q in CCM2; associated with H-215. 1 Publication
VAR_067353
Natural varianti289 – 2891S → N.
Corresponds to variant rs2289366 [ dbSNP | Ensembl ].
VAR_050768

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1010MEEEGKKGKK → MHSSCRQRRNQNLSKEIPQT EFHTGYSMENE in isoform 2.
VSP_024402
Alternative sequencei11 – 6858Missing in isoform 4.
VSP_046695Add
BLAST
Alternative sequencei158 – 24891Missing in isoform 3.
VSP_046696Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti268 – 2681F → C in BAG53562. 1 Publication
Sequence conflicti440 – 4401D → A in AAQ15228. 1 Publication
Sequence conflicti444 – 4441A → ALWTVDGGAPTPSAQLS in AAQ15228. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK098005 mRNA. Translation: BAG53562.1.
AF370392 mRNA. Translation: AAQ15228.1.
AC004847 Genomic DNA. No translation available.
AC013416 Genomic DNA. No translation available.
CH236960 Genomic DNA. Translation: EAL23746.1.
CH471128 Genomic DNA. Translation: EAW61061.1.
CH471128 Genomic DNA. Translation: EAW61064.1.
BC004903 mRNA. Translation: AAH04903.1.
BC008859 mRNA. Translation: AAH08859.1.
BC016832 mRNA. Translation: AAH16832.1.
BC025958 mRNA. Translation: AAH25958.1.
CCDSiCCDS34630.1. [Q9BSQ5-2]
CCDS5500.1. [Q9BSQ5-1]
CCDS55108.1. [Q9BSQ5-3]
CCDS55109.1. [Q9BSQ5-4]
RefSeqiNP_001025006.1. NM_001029835.2. [Q9BSQ5-2]
NP_001161406.1. NM_001167934.1. [Q9BSQ5-4]
NP_001161407.1. NM_001167935.1. [Q9BSQ5-3]
NP_113631.1. NM_031443.3. [Q9BSQ5-1]
UniGeneiHs.148272.

Genome annotation databases

EnsembliENST00000258781; ENSP00000258781; ENSG00000136280. [Q9BSQ5-1]
ENST00000381112; ENSP00000370503; ENSG00000136280. [Q9BSQ5-2]
ENST00000541586; ENSP00000444725; ENSG00000136280. [Q9BSQ5-4]
ENST00000544363; ENSP00000438035; ENSG00000136280. [Q9BSQ5-3]
GeneIDi83605.
KEGGihsa:83605.
UCSCiuc003tmo.3. human. [Q9BSQ5-1]

Polymorphism databases

DMDMi74733042.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK098005 mRNA. Translation: BAG53562.1 .
AF370392 mRNA. Translation: AAQ15228.1 .
AC004847 Genomic DNA. No translation available.
AC013416 Genomic DNA. No translation available.
CH236960 Genomic DNA. Translation: EAL23746.1 .
CH471128 Genomic DNA. Translation: EAW61061.1 .
CH471128 Genomic DNA. Translation: EAW61064.1 .
BC004903 mRNA. Translation: AAH04903.1 .
BC008859 mRNA. Translation: AAH08859.1 .
BC016832 mRNA. Translation: AAH16832.1 .
BC025958 mRNA. Translation: AAH25958.1 .
CCDSi CCDS34630.1. [Q9BSQ5-2 ]
CCDS5500.1. [Q9BSQ5-1 ]
CCDS55108.1. [Q9BSQ5-3 ]
CCDS55109.1. [Q9BSQ5-4 ]
RefSeqi NP_001025006.1. NM_001029835.2. [Q9BSQ5-2 ]
NP_001161406.1. NM_001167934.1. [Q9BSQ5-4 ]
NP_001161407.1. NM_001167935.1. [Q9BSQ5-3 ]
NP_113631.1. NM_031443.3. [Q9BSQ5-1 ]
UniGenei Hs.148272.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4FQN X-ray 1.90 A/B/C/D 283-379 [» ]
ProteinModelPortali Q9BSQ5.
SMRi Q9BSQ5. Positions 283-376.
ModBasei Search...

Protein-protein interaction databases

BioGridi 123696. 4 interactions.
IntActi Q9BSQ5. 4 interactions.
MINTi MINT-8404420.
STRINGi 9606.ENSP00000370503.

PTM databases

PhosphoSitei Q9BSQ5.

Polymorphism databases

DMDMi 74733042.

Proteomic databases

MaxQBi Q9BSQ5.
PaxDbi Q9BSQ5.
PRIDEi Q9BSQ5.

Protocols and materials databases

DNASUi 83605.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258781 ; ENSP00000258781 ; ENSG00000136280 . [Q9BSQ5-1 ]
ENST00000381112 ; ENSP00000370503 ; ENSG00000136280 . [Q9BSQ5-2 ]
ENST00000541586 ; ENSP00000444725 ; ENSG00000136280 . [Q9BSQ5-4 ]
ENST00000544363 ; ENSP00000438035 ; ENSG00000136280 . [Q9BSQ5-3 ]
GeneIDi 83605.
KEGGi hsa:83605.
UCSCi uc003tmo.3. human. [Q9BSQ5-1 ]

Organism-specific databases

CTDi 83605.
GeneCardsi GC07P045039.
GeneReviewsi CCM2.
HGNCi HGNC:21708. CCM2.
HPAi HPA020273.
HPA021669.
MIMi 603284. phenotype.
607929. gene.
neXtProti NX_Q9BSQ5.
Orphaneti 221061. Hereditary cerebral cavernous malformation.
PharmGKBi PA26145.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39125.
HOGENOMi HOG000231916.
HOVERGENi HBG054451.
OMAi DSFGRHR.
OrthoDBi EOG7SFHXM.
PhylomeDBi Q9BSQ5.
TreeFami TF328517.

Miscellaneous databases

GeneWikii CCM2.
GenomeRNAii 83605.
NextBioi 35470159.
PROi Q9BSQ5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BSQ5.
Bgeei Q9BSQ5.
CleanExi HS_CCM2.
Genevestigatori Q9BSQ5.

Family and domain databases

Gene3Di 2.30.29.30. 1 hit.
InterProi IPR026159. Malcavernin.
IPR011993. PH_like_dom.
IPR006020. PTB/PI_dom.
[Graphical view ]
PANTHERi PTHR21642. PTHR21642. 1 hit.
PROSITEi PS01179. PID. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Thymus.
  2. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain and Kidney.
  7. "Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations."
    Liquori C.L., Berg M.J., Siegel A.M., Huang E., Zawistowski J.S., Stoffer T., Verlaan D., Balogun F., Hughes L., Leedom T.P., Plummer N.W., Cannella M., Maglione V., Squitieri F., Johnson E.W., Rouleau G.A., Ptacek L., Marchuk D.A.
    Am. J. Hum. Genet. 73:1459-1464(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CCM2.
  8. "Crystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrity."
    Li X., Zhang R., Zhang H., He Y., Ji W., Min W., Boggon T.J.
    J. Biol. Chem. 285:24099-24107(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PDCD10.
  9. "Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus."
    Fisher O.S., Zhang R., Li X., Murphy J.W., Demeler B., Boggon T.J.
    FEBS Lett. 587:272-277(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 283-379, PARTIAL PROTEIN SEQUENCE, DOMAIN, INTERACTION WITH PDCD10.
  10. Cited for: VARIANT CCM2 ARG-198, VARIANTS ILE-53 AND ILE-120.
  11. "De Novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations."
    Mosca L., Pileggi S., Avemaria F., Tarlarini C., Cigoli M.S., Capra V., De Marco P., Pavanello M., Marocchi A., Penco S.
    J. Mol. Neurosci. 47:475-480(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CCM2 HIS-215 AND GLN-229.

Entry informationi

Entry nameiCCM2_HUMAN
AccessioniPrimary (citable) accession number: Q9BSQ5
Secondary accession number(s): A4D2L4
, B3KUV0, D3DVL4, E9PDJ3, F5H0E1, F5H551, Q71RE5, Q8TAT4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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