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Q9BSQ5

- CCM2_HUMAN

UniProt

Q9BSQ5 - CCM2_HUMAN

Protein

Malcavernin

Gene

CCM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    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.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    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. inner ear development Source: Ensembl
    6. integrin-mediated signaling pathway Source: UniProtKB
    7. in utero embryonic development Source: Ensembl
    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

    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

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 444444MalcaverninPRO_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.By similarity2 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

    1
    444
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini59 – 248190PIDPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni283 – 37694Harmonin homology domainAdd
    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.Curated
    Contains 1 PID domain.PROSITE-ProRule annotation

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti268 – 2681F → C in BAG53562. (PubMed:14702039)Curated
    Sequence conflicti440 – 4401D → A in AAQ15228. (PubMed:15498874)Curated
    Sequence conflicti444 – 4441A → ALWTVDGGAPTPSAQLS in AAQ15228. (PubMed:15498874)Curated

    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. 1 PublicationVSP_024402
    Alternative sequencei11 – 6858Missing in isoform 4. CuratedVSP_046695Add
    BLAST
    Alternative sequencei158 – 24891Missing in isoform 3. CuratedVSP_046696Add
    BLAST

    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...
    MobiDBi 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

    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: October 1, 2014
    This is version 110 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