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Q9BSQ5

- CCM2_HUMAN

UniProt

Q9BSQ5 - CCM2_HUMAN

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Protein

Malcavernin

Gene

CCM2

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).By similarity

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
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.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

BgeeiQ9BSQ5.
CleanExiHS_CCM2.
ExpressionAtlasiQ9BSQ5. baseline and differential.
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 – 2914Combined sources
Helixi293 – 30614Combined sources
Turni307 – 3093Combined sources
Helixi312 – 32615Combined sources
Helixi331 – 34212Combined sources
Helixi344 – 35613Combined sources
Helixi359 – 37113Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00390000016168.
HOGENOMiHOG000231916.
HOVERGENiHBG054451.
InParanoidiQ9BSQ5.
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

        10         20         30         40         50
MEEEGKKGKK PGIVSPFKRV FLKGEKSRDK KAHEKVTERR PLHTVVLSLP
60 70 80 90 100
ERVEPDRLLS DYIEKEVKYL GQLTSIPGYL NPSSRTEILH FIDNAKRAHQ
110 120 130 140 150
LPGHLTQEHD AVLSLSAYNV KLAWRDGEDI ILRVPIHDIA AVSYVRDDAA
160 170 180 190 200
HLVVLKTAQD PGISPSQSLC AESSRGLSAG SLSESAVGPV EACCLVILAA
210 220 230 240 250
ESKVAAEELC CLLGQVFQVV YTESTIDFLD RAIFDGASTP THHLSLHSDD
260 270 280 290 300
SSTKVDIKET YEVEASTFCF PESVDVGGAS PHSKTISESE LSASATELLQ
310 320 330 340 350
DYMLTLRTKL SSQEIQQFAA LLHEYRNGAS IHEFCINLRQ LYGDSRKFLL
360 370 380 390 400
LGLRPFIPEK DSQHFENFLE TIGVKDGRGI ITDSFGRHRR ALSTTSSSTT
410 420 430 440
NGNRATGSSD DRSAPSEGDE WDRMISDISS DIEALGCSMD QDSA
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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.
GeneTreei ENSGT00390000016168.
HOGENOMi HOG000231916.
HOVERGENi HBG054451.
InParanoidi Q9BSQ5.
OMAi DSFGRHR.
OrthoDBi EOG7SFHXM.
PhylomeDBi Q9BSQ5.
TreeFami TF328517.

Miscellaneous databases

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

Gene expression databases

Bgeei Q9BSQ5.
CleanExi HS_CCM2.
ExpressionAtlasi Q9BSQ5. baseline and differential.
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: November 26, 2014
This is version 112 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