CCM2L_HUMAN
ID CCM2L_HUMAN Reviewed; 571 AA.
AC Q9NUG4; Q5JYR9; Q8N5F1; Q8N6G8; Q96MD5;
DT 20-JUN-2003, integrated into UniProtKB/Swiss-Prot.
DT 20-JUN-2003, sequence version 3.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Cerebral cavernous malformations 2 protein-like;
DE Short=CCM2-like;
GN Name=CCM2L; Synonyms=C20orf160;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Small intestine;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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 -!- INTERACTION:
CC Q9NUG4; Q13554-3: CAMK2B; NbExp=3; IntAct=EBI-350645, EBI-11523526;
CC Q9NUG4; Q9BYU1: PBX4; NbExp=5; IntAct=EBI-350645, EBI-10302990;
CC Q9NUG4; P20618: PSMB1; NbExp=3; IntAct=EBI-350645, EBI-372273;
CC Q9NUG4; Q9NZ43: USE1; NbExp=3; IntAct=EBI-350645, EBI-742842;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NUG4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NUG4-2; Sequence=VSP_007633;
CC Name=3;
CC IsoId=Q9NUG4-3; Sequence=VSP_007634, VSP_007635;
CC -!- SIMILARITY: Belongs to the CCM2 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH32455.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK057090; BAB71363.1; -; mRNA.
DR EMBL; AL031658; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC030254; AAH30254.1; -; mRNA.
DR EMBL; BC032455; AAH32455.1; ALT_INIT; mRNA.
DR CCDS; CCDS13195.1; -. [Q9NUG4-2]
DR RefSeq; NP_542192.2; NM_080625.3. [Q9NUG4-2]
DR RefSeq; XP_006723769.1; XM_006723706.3. [Q9NUG4-2]
DR RefSeq; XP_011526871.1; XM_011528569.1.
DR AlphaFoldDB; Q9NUG4; -.
DR SMR; Q9NUG4; -.
DR BioGRID; 126664; 5.
DR IntAct; Q9NUG4; 7.
DR STRING; 9606.ENSP00000262659; -.
DR GlyGen; Q9NUG4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NUG4; -.
DR PhosphoSitePlus; Q9NUG4; -.
DR BioMuta; CCM2L; -.
DR DMDM; 32171369; -.
DR EPD; Q9NUG4; -.
DR jPOST; Q9NUG4; -.
DR MassIVE; Q9NUG4; -.
DR PaxDb; Q9NUG4; -.
DR PeptideAtlas; Q9NUG4; -.
DR PRIDE; Q9NUG4; -.
DR ProteomicsDB; 82668; -. [Q9NUG4-1]
DR ProteomicsDB; 82669; -. [Q9NUG4-2]
DR ProteomicsDB; 82670; -. [Q9NUG4-3]
DR Antibodypedia; 2011; 71 antibodies from 16 providers.
DR DNASU; 140706; -.
DR Ensembl; ENST00000262659.12; ENSP00000262659.8; ENSG00000101331.17. [Q9NUG4-2]
DR Ensembl; ENST00000452892.3; ENSP00000392448.2; ENSG00000101331.17. [Q9NUG4-1]
DR GeneID; 140706; -.
DR KEGG; hsa:140706; -.
DR MANE-Select; ENST00000452892.3; ENSP00000392448.2; NM_001365692.1; NP_001352621.1.
DR UCSC; uc002wxf.3; human. [Q9NUG4-1]
DR CTD; 140706; -.
DR GeneCards; CCM2L; -.
DR HGNC; HGNC:16153; CCM2L.
DR HPA; ENSG00000101331; Tissue enriched (lymphoid).
DR neXtProt; NX_Q9NUG4; -.
DR OpenTargets; ENSG00000101331; -.
DR PharmGKB; PA25702; -.
DR VEuPathDB; HostDB:ENSG00000101331; -.
DR eggNOG; ENOG502QW6F; Eukaryota.
DR GeneTree; ENSGT00390000016168; -.
DR HOGENOM; CLU_051853_0_0_1; -.
DR InParanoid; Q9NUG4; -.
DR OMA; QTMSCNA; -.
DR OrthoDB; 1446057at2759; -.
DR PhylomeDB; Q9NUG4; -.
DR TreeFam; TF328517; -.
DR PathwayCommons; Q9NUG4; -.
DR SignaLink; Q9NUG4; -.
DR BioGRID-ORCS; 140706; 14 hits in 1067 CRISPR screens.
DR ChiTaRS; CCM2L; human.
DR GenomeRNAi; 140706; -.
DR Pharos; Q9NUG4; Tdark.
DR PRO; PR:Q9NUG4; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9NUG4; protein.
DR Bgee; ENSG00000101331; Expressed in spleen and 145 other tissues.
DR Genevisible; Q9NUG4; HS.
DR GO; GO:0003007; P:heart morphogenesis; IBA:GO_Central.
DR CDD; cd13516; HHD_CCM2; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR032375; CCM2_C.
DR InterPro; IPR026159; Malcavernin.
DR InterPro; IPR011993; PH-like_dom_sf.
DR PANTHER; PTHR21642; PTHR21642; 1.
DR Pfam; PF16545; CCM2_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..571
FT /note="Cerebral cavernous malformations 2 protein-like"
FT /id="PRO_0000079476"
FT REGION 164..193
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 212..295
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 544..571
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 215..235
FT /note="RAGGGGGGSLERQRAGARASG -> PTRSTRRTPAPTPTATWSSWL (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_007634"
FT VAR_SEQ 236..571
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_007635"
FT VAR_SEQ 357..571
FT /note="SESCHTDGTYAYDADFSCCSSFNGSQDTFEACYSGTSTPSFHGSHCSGSDHS
FT SLGLEQLQDYMVTLRSKLGPLEIQQFAMLLREYRLGLPIQDYCTGLLKLYGDRRKFLLL
FT GMRPFIPDQDIGYFEGFLEGVGIREGGILTDSFGRIKRSMSSTSASAVRSYDGAAQRPE
FT AQAFHRLLADITHDIEALAPDDDDDDEDEPRGSRGGSDAAEDNYL -> IMAPRTPLKH
FT VTAARPHLLSMAPTAAAATTAVWAWSSYRITWSRCGVSWGPSRSSSLRCCCGSTGWGCP
FT SRTIAQAC (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_007633"
SQ SEQUENCE 571 AA; 62179 MW; 369302A71BD00491 CRC64;
MEYEVKKGKK GFVSPIRRLV FPKAGRRAAC RSSVSRRPLH SMPLYPPDYL IDPQILLCDY
LEKEVKFLGH LTWVTSSLNP SSRDELLQLL DTARQLKELP LKTTAEQDSI LSLSARCLLL
TWRDNEELIL RIPTHEIAAA SYLQDDALHL LVLKTGLGVD PVPAGVDASP GGAGRDPGPP
GGAPEKRRVG TAERRHTICS LDWRMGWGGG AAEARAGGGG GGSLERQRAG ARASGSWERR
QTFSGSWERR HGGGGGGGGA GKPGGSWERR QAGSGGGGSW ERRHPGPNPL DPQDPSPDAY
CNLVILAVAN RDAAEESCAL ICQVFQIIYG DQSIECVDRA GYHYTSTPER PWLCSRSESC
HTDGTYAYDA DFSCCSSFNG SQDTFEACYS GTSTPSFHGS HCSGSDHSSL GLEQLQDYMV
TLRSKLGPLE IQQFAMLLRE YRLGLPIQDY CTGLLKLYGD RRKFLLLGMR PFIPDQDIGY
FEGFLEGVGI REGGILTDSF GRIKRSMSST SASAVRSYDG AAQRPEAQAF HRLLADITHD
IEALAPDDDD DDEDEPRGSR GGSDAAEDNY L
