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   27-MAR-2024, entry version 156.
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   CCDS; CCDS93028.1; -. [Q9NUG4-1]
DR   RefSeq; NP_542192.2; NM_080625.3. [Q9NUG4-2]
DR   RefSeq; XP_006723769.1; XM_006723706.3.
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; 9606-ENSP00000262659; -.
DR   PeptideAtlas; Q9NUG4; -.
DR   ProteomicsDB; 82668; -. [Q9NUG4-1]
DR   ProteomicsDB; 82669; -. [Q9NUG4-2]
DR   ProteomicsDB; 82670; -. [Q9NUG4-3]
DR   Antibodypedia; 2011; 89 antibodies from 17 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   AGR; HGNC:16153; -.
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; GSWERKQ; -.
DR   OrthoDB; 2956487at2759; -.
DR   PhylomeDB; Q9NUG4; -.
DR   TreeFam; TF328517; -.
DR   PathwayCommons; Q9NUG4; -.
DR   SignaLink; Q9NUG4; -.
DR   BioGRID-ORCS; 140706; 15 hits in 1143 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 147 other cell types or tissues.
DR   GO; GO:0003007; P:heart morphogenesis; IBA:GO_Central.
DR   CDD; cd13516; HHD_CCM2; 1.
DR   CDD; cd13166; PTB_CCM2; 1.
DR   Gene3D; 1.20.1160.20; -; 1.
DR   Gene3D; 2.30.29.30; Pleckstrin-homology domain (PH domain)/Phosphotyrosine-binding domain (PTB); 1.
DR   InterPro; IPR032375; CCM2_C.
DR   InterPro; IPR026159; Malcavernin.
DR   InterPro; IPR011993; PH-like_dom_sf.
DR   PANTHER; PTHR21642:SF2; CEREBRAL CAVERNOUS MALFORMATIONS 2 PROTEIN-LIKE; 1.
DR   PANTHER; PTHR21642; CEREBRAL CAVERNOUS MALFORMATIONS PROTEIN 2 HOMOLOG; 1.
DR   Pfam; PF16545; CCM2_C; 1.
DR   Genevisible; Q9NUG4; HS.
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
//