H-InvDB x AHG DB
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H-Invitational ID: HIT000037706 Accession number: BC016832 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Malcavernin; Cerebral cavernous malformations 2 protein;
 
 

Transcript original information
Accession number BC016832.2
CAGE tag ID NA
EST ID NA
Clone Number MGC:2762 IMAGE:2924210
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (CCM2) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (CCM2);
Sequence data provider Provider:MGC/NCI; 
Annotation project H-Invitational FLcDNA
Length of cDNA 1819[bp] (No. of exon:10)[A:410 T:338 G:566 C:505]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Kidney, renal cell adenocarcinoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1800(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0006661
Genomic location  G-integra Help Chromosome 7
Location 7p13
Position 45039858- 45116046
Strand +
Possible duplicated location(s) NA
Gene structure 10 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:83605; 
KEGG GENES KEGG GENES(83605); 
GeneCard GeneCardCCM2;  *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra;  cDNA-genome alignmentcDNA-genome alignment; 

Predicted CDS information
HIP ID HIP000045362
Predicted CDS 76..1410;  444[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.814
Database links RefSeq NP_113631; 
UniProt Q9BSQ5; 
CCDS CCDS5500; 

Motif information
ORF

length(444),orf(76:1410) MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLP ERVEPDRLLSDYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQ LPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAA HLVVLKTAQDPGISPSQSLCAESSRGLSAGSLSESAVGPVEACCLVILAA ESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTPTHHLSLHSDD SSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQ DYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLL LGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTT NGNRATGSSDDRSAPSEGDEWDRMISDISSDIEALGCSMDQDSA* 		a.a.
length		 InterPro Name
length(443), motif(2:444) 443 IPR026159 Malcavernin [Family]
length(170), motif(54:223) 170 IPR011993 Pleckstrin homology-like domain [Domain]
length(157), motif(67:223) 157 IPR006020 PTB/PI domain [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000037706
H-Inv cluster ID Locus viewHIX0006661
Accession number BC016832.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Malcavernin; Cerebral cavernous malformations 2 protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q9BSQ5)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 12690205;  12853948;  14624391;  14702039;  14740320;  15489334;  15498874;  18088087;  18669648;  20489202;  22415356;  23266514;  ALL; 
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol CCM2
HGNC aliases "chromosome 7 open reading frame 22"
HGNC name cerebral cavernous malformation 2
DDBJ CCM2
UniProt CCM2
EC number NA
GGDB
(GlycoGene Database)
 Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000045362
No. of interaction 1
Interaction partner(s) HIP000081139; 
BIND NA
DIP NA
MINT NA
HPRD 03770;  10141; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:83605; 
KEGG GENES KEGG GENES(83605); 
GeneCard GeneCardCCM2;  *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases; 
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT; 
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function protein binding (GO:0005515); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT nuclear;  cytosol; 
Target P Other
SOSUI soluble protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
54 221 1ddmA 6e-13 17.3 127/100 b.55.1.2
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator		 AceGene AGhsB111610; 
Affymetrix
GeneChip		 HG-Focus NA
HG-U133 223164_at; 
HG-U133A NA
HG-U133A_2 NA
HG-U133B 223164_at; 
HG-U133_Plus_2 223164_at; 
HG-U95 48773_at; 
HG-U95A NA
HG-U95B NA
HG-U95C 48773_at; 
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3000170;  3000187;  3000202;  3000203;  3000208;  3000209;  3000214;  3000216;  3000217;  3000220;  3000221;  3000222;  3000223;  3000224;  3000225;  3048982;  3048988; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P123125; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P123125; 
Related H-InvDB links H-ANGELH-ANGEL;  DNAProbeLocatorDNAProbeLocator; 

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Cerebral cavernous malformations-2 (603284); 
Related information in OMIM OMIM ID:  607929;  Title: CCM2 GENE
Co-localized orphan diseases NA
Disease related mutation MutationView:  607929; 
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(83605)
Disease Entrez Gene ID:(83605)
Substance Entrez Gene ID:(83605)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo Viewer;  LEGENDALEGENDA; 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
76 .. 76 A/G rs137852842 + CDS Nonsynonymous[Met1Val]
123 .. 123 A/T rs142320735 + CDS Synonymous[Pro16Pro]
201 .. 201 G/A rs146579519 + CDS Synonymous[Leu42Leu]
214 .. 214 T/C rs139113713 + CDS Synonymous[Leu47Leu]
232 .. 232 G/A rs2107732 + CDS Nonsynonymous[Val53Ile]
301 .. 301 A/T rs143149895 + CDS Nonsynonymous[Ile76Leu]
321 .. 321 C/T rs148244188 + CDS Synonymous[Pro82Pro]
327 .. 327 T/C rs200869517 + CDS Synonymous[Ser84Ser]
394 .. 394 C/T rs137852841 + CDS AA-STOP[Gln107*]
399 .. 399 G/A rs202238952 + CDS Synonymous[Glu108Glu]
402 .. 402 C/T rs201879802 + CDS Synonymous[His109His]
403 .. 403 G/A rs41280666 + CDS Nonsynonymous[Asp110Asn]
414 .. 414 C/T rs146259619 + CDS Synonymous[Leu113Leu]
426 .. 426 G/A rs35888291 - CDS Synonymous[Ala117Ala]
433 .. 433 G/A rs11552377 + CDS Nonsynonymous[Val120Ile]
459 .. 459 G/A rs73694268 + CDS Synonymous[Glu128Glu]
479 .. 479 C/T rs11552376 + CDS Nonsynonymous[Pro135Leu]
499 .. 499 G/A rs139533504 + CDS Nonsynonymous[Val142Ile]
512 .. 512 G/A rs149268160 + CDS Nonsynonymous[Arg146Gln]
519 .. 519 C/T rs144809793 + CDS Synonymous[Asp148Asp]
587 .. 587 C/T rs148547810 + CDS Nonsynonymous[Ala171Val]
611 .. 611 C/T rs187724008 + CDS Nonsynonymous[Ala179Val]
624 .. 624 G/A rs145671290 + CDS Synonymous[Ser183Ser]
626 .. 626 A/G rs141353947 + CDS Nonsynonymous[Glu184Gly]
643 .. 643 G/A rs200358025 + CDS Nonsynonymous[Val190Met]
668 .. 668 T/G rs137852843 + CDS Nonsynonymous[Leu198Arg]
687 .. 687 C/T rs181474100 + CDS Synonymous[Val204Val]
711 .. 711 G/C rs150076154 + CDS Synonymous[Leu212Leu]
810 .. 810 C/T rs199682975 + CDS Synonymous[Ser245Ser]
815 .. 815 A/G rs201370741 + CDS Nonsynonymous[His247Arg]
941 .. 941 G/A rs2289366 + CDS Nonsynonymous[Ser289Asn]
966 .. 966 G/A rs144648280 + CDS Synonymous[Glu297Glu]
990 .. 990 G/A rs2289367 + CDS Synonymous[Thr305Thr]
1029 .. 1029 T/C rs140520179 + CDS Synonymous[Phe318Phe]
1055 .. 1055 A/G rs150428392 + CDS Nonsynonymous[Asn327Ser]
1059 .. 1059 G/A rs112504276 + CDS Synonymous[Gly328Gly]
1105 .. 1105 G/A rs140320854 + CDS Nonsynonymous[Asp344Asn]
1136 .. 1136 G/A rs145579135 + CDS Nonsynonymous[Arg354Lys]
1138 .. 1138 C/G rs138150576 + CDS Nonsynonymous[Pro355Ala]
1166 .. 1166 A/G rs201559289 + CDS Nonsynonymous[His364Arg]
1170 .. 1170 C/T rs199522537 + CDS Synonymous[Phe365Phe]
1190 .. 1190 T/C rs142647512 + CDS Nonsynonymous[Ile372Thr]
1194 .. 1194 C/T rs144625146 + CDS Synonymous[Gly373Gly]
1195 .. 1195 G/A rs200669376 + CDS Nonsynonymous[Val374Met]
1209 .. 1209 C/T rs148192057 + CDS Synonymous[Arg378Arg]
1272 .. 1272 C/T rs141205369 + CDS Synonymous[Thr399Thr]
1292 .. 1292 C/T rs150734280 + CDS Nonsynonymous[Thr406Met]
1310 .. 1310 G/A rs139366651 + CDS Nonsynonymous[Arg412Gln]
1313 .. 1313 C/T rs143962510 + CDS Nonsynonymous[Ser413Leu]
1314 .. 1314 G/A rs147293659 + CDS Synonymous[Ser413Ser]
1320 .. 1320 C/T rs141057892 + CDS Synonymous[Pro415Pro]
1335 .. 1335 G/A rs2304691 + CDS Synonymous[Glu420Glu]
1359 .. 1359 C/T rs144918172 + CDS Synonymous[Ile428Ile]
1368 .. 1368 C/T rs140689222 + CDS Synonymous[Asp431Asp]
1388 .. 1388 G/A rs145734072 + CDS Nonsynonymous[Ser438Asn]
1389 .. 1389 C/A rs148496534 + CDS Nonsynonymous[Ser438Arg]
1416 .. 1416 A/G rs144650652 + 3'UTR
1423 ^ 1424 -/G rs3214691 + 3'UTR
1424 .. 1424 G/T rs116320627 + 3'UTR
1425 .. 1425 G/C rs200969851 + 3'UTR
1521 .. 1521 G/A rs115618289 + 3'UTR
1527 .. 1527 T/C rs7804 + 3'UTR
1559 .. 1559 C/A rs192314261 + 3'UTR
1579 .. 1579 G/C rs114844860 + 3'UTR
1601 .. 1601 G/A rs12537982 + 3'UTR
1753 .. 1753 A/G rs139929492 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD); 
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer;