CCM2L_MOUSE
ID CCM2L_MOUSE Reviewed; 481 AA.
AC Q8VCC6;
DT 20-JUN-2003, integrated into UniProtKB/Swiss-Prot.
DT 09-JAN-2013, sequence version 2.
DT 03-AUG-2022, entry version 93.
DE RecName: Full=Cerebral cavernous malformations 2 protein-like;
DE Short=CCM2-like;
GN Name=Ccm2l;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8VCC6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8VCC6-2; Sequence=VSP_044624, VSP_044625;
CC -!- SIMILARITY: Belongs to the CCM2 family. {ECO:0000305}.
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DR EMBL; GL456092; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC020535; AAH20535.1; -; mRNA.
DR CCDS; CCDS50755.1; -. [Q8VCC6-1]
DR RefSeq; NP_663511.2; NM_145536.3. [Q8VCC6-1]
DR AlphaFoldDB; Q8VCC6; -.
DR SMR; Q8VCC6; -.
DR STRING; 10090.ENSMUSP00000105425; -.
DR iPTMnet; Q8VCC6; -.
DR PhosphoSitePlus; Q8VCC6; -.
DR MaxQB; Q8VCC6; -.
DR PaxDb; Q8VCC6; -.
DR PRIDE; Q8VCC6; -.
DR ProteomicsDB; 265614; -. [Q8VCC6-1]
DR ProteomicsDB; 265615; -. [Q8VCC6-2]
DR Antibodypedia; 2011; 71 antibodies from 16 providers.
DR DNASU; 228788; -.
DR Ensembl; ENSMUST00000109800; ENSMUSP00000105425; ENSMUSG00000027474. [Q8VCC6-1]
DR GeneID; 228788; -.
DR KEGG; mmu:228788; -.
DR UCSC; uc012cgo.2; mouse. [Q8VCC6-1]
DR CTD; 140706; -.
DR MGI; MGI:2385159; Ccm2l.
DR VEuPathDB; HostDB:ENSMUSG00000027474; -.
DR eggNOG; ENOG502QW6F; Eukaryota.
DR GeneTree; ENSGT00390000016168; -.
DR HOGENOM; CLU_051853_0_0_1; -.
DR InParanoid; Q8VCC6; -.
DR OrthoDB; 1446057at2759; -.
DR PhylomeDB; Q8VCC6; -.
DR BioGRID-ORCS; 228788; 1 hit in 71 CRISPR screens.
DR PRO; PR:Q8VCC6; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; Q8VCC6; protein.
DR Bgee; ENSMUSG00000027474; Expressed in cardiovascular system endothelium and 157 other tissues.
DR ExpressionAtlas; Q8VCC6; baseline and differential.
DR Genevisible; Q8VCC6; MM.
DR GO; GO:0003209; P:cardiac atrium morphogenesis; IGI:MGI.
DR GO; GO:0055017; P:cardiac muscle tissue growth; IGI:MGI.
DR GO; GO:0003007; P:heart morphogenesis; IBA:GO_Central.
DR GO; GO:0034109; P:homotypic cell-cell adhesion; IDA:MGI.
DR GO; GO:0034111; P:negative regulation of homotypic cell-cell adhesion; IDA:MGI.
DR GO; GO:0032091; P:negative regulation of protein binding; IDA:MGI.
DR GO; GO:0090271; P:positive regulation of fibroblast growth factor production; IGI:MGI.
DR GO; GO:0003222; P:ventricular trabecula myocardium morphogenesis; IGI:MGI.
DR GO; GO:0042060; P:wound healing; IMP:MGI.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR026159; Malcavernin.
DR InterPro; IPR011993; PH-like_dom_sf.
DR PANTHER; PTHR21642; PTHR21642; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..481
FT /note="Cerebral cavernous malformations 2 protein-like"
FT /id="PRO_0000079477"
FT REGION 161..193
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 214..290
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 157..192
FT /note="LGVDPVPAGMDGSPGGSGRDPGPPGAAPEKRRVGTA -> AARVWGWTLCLR
FT AWMAAREVRVAIPALRAPRPRNDG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044624"
FT VAR_SEQ 193..481
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044625"
SQ SEQUENCE 481 AA; 52174 MW; D2ECC7491C285C32 CRC64;
MEYEAKKGKK GFVSPIRRLV FPKAARQAAF RSSVSRRPLH SMPLYPPDYL IDPHILLCDY
LEKEVKFLGH LTWVTSSLNP SSRDELLQLL DTARQLKELP LKTTPEQDSI LSLSARCLLL
TWRDNEELIL RIPTHEIAAA SYLQDDALHL LVLKTGLGVD PVPAGMDGSP GGSGRDPGPP
GAAPEKRRVG TAERRHTICS LDWRVAWGGG AGAEARAAGG GGSLERQRAG ARASGSWERR
QTFSGSWERR HAGGGAGKPG GSWERRQASG GVGGSWERRH PGPNPLDPQN HSPDAYCNLV
ILAVANRDAA EESCALICQV FQIIYGDQSI ECVDRAGYHY RSTPKRPWLS SCTMAPRTHL
KRATVAHPHR LSTAPTAAVS TTAAGPSSSY RITWSRCGVS WVLLRSSSLH CCYETIVWGC
LSRTTVQVCR NSMGTDGSSF SLECGPSSQI RTSATSRASW RVWVSARAES SLTALAASSA
A