H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000490696 Accession number: AK296072 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Charged multivesicular body protein 2b isoform 2.
 
 

Transcript original information
Accession number AK296072.1
CAGE tag ID NA
EST ID NA
Clone Number BRTHA2001853
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (CHMP2B) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (CHMP2B);
Sequence data provider NA
Annotation project NA
Length of cDNA 894[bp] (No. of exon:5)[A:275 T:211 G:201 C:207]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type thalamus
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
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 HIX0003479
Genomic location  G-integra Help Chromosome 3
Location 3p11.2
Position 87276421- 87303064
Strand +
Possible duplicated location(s) NA
Gene structure 5 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:25978
KEGG GENES KEGG GENES(25978)
GeneCard GeneCardCHMP2B*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 HIP000250290
Predicted CDS 284..802;  172[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.713
Database links RefSeq NP_001231573
UniProt NA
CCDS CCDS58840

Motif information
ORF

length(172),orf(284:802)
MELEIKKMAKIGNKEACKVLAKQLVHLRKQKTRTFAVSSKVTSMSTQTKV
MNSQMKMAGAMSTTAKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEEM
INDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAKAPSAARSLPSA
STSKATISDEEIERQLKALGVD*
a.a.
length
InterPro Name
length(143), motif(2:144) 143 IPR005024 Snf7 family [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000490696
H-Inv cluster ID Locus viewHIX0003479
Accession number AK296072.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Similar to Charged multivesicular body protein 2b isoform 2.
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (NP_001231573)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Experimental evidence Protein evidence
PubMed ID NA
Gene family/group Gene family H-Inv gene family/group ID HIF0001174
Gene family/group name Snf7 (IPR005024).
Evidence motif (InterPro) ID 3
Gene symbol/name HGNC symbol CHMP2B
HGNC aliases "chromatin modifying protein 2B"
HGNC name charged multivesicular body protein 2B
DDBJ NA
UniProt NA
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 HIP000250290
No. of interaction NA
Interaction partner(s) NA
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:25978
KEGG GENES KEGG GENES(25978)
GeneCard GeneCardCHMP2B*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 Snf7 (IPR005024). 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
Biological process vacuolar transport (GO:0007034); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT cytosol;  nuclear;  extracellular; 
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.

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Dementia, familial, nonspecific (600795); 
Related information in OMIM OMIM ID:  609512;  Title: CHMP FAMILY, MEMBER 2B
Co-localized orphan diseases NA
Disease related mutation MutationView:  609512
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:(25978)
Disease Entrez Gene ID:(25978)
Substance Entrez Gene ID:(25978)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

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
102 .. 102 C/A rs77328592 + 5'UTR
151 .. 151 C/T rs36098294 + 5'UTR
158 .. 158 C/A rs11540917 + 5'UTR
218 .. 218 G/C rs11540914 + 5'UTR
219 .. 219 G/A rs199854996 + 5'UTR
240 .. 240 G/A rs200140890 + 5'UTR
279 .. 279 C/T rs2279720 - 5'UTR
287 .. 287 G/T rs11540915 + CDS AA-STOP[Glu2*]
323 .. 323 A/C rs188471297 + CDS Nonsynonymous[Lys14Gln]
336 .. 336 A/G rs143800051 + CDS Nonsynonymous[Lys18Arg]
352 .. 352 A/G rs148750997 + CDS Synonymous[Gln23Gln]
366 .. 366 G/A rs200792883 + CDS Nonsynonymous[Arg28Gln]
373 .. 373 G/C rs139126268 + CDS Nonsynonymous[Gln30His]
375 .. 375 A/G rs144152485 + CDS Nonsynonymous[Lys31Arg]
378 .. 378 C/T rs192188850 + CDS Nonsynonymous[Thr32Met]
412 .. 412 T/C rs144624883 + CDS Synonymous[Ser43Ser]
471 .. 471 C/A rs281864934 + CDS Nonsynonymous[Thr63Asn]
472 .. 472 C/T rs11540913 + CDS Synonymous[Thr63Thr]
524 .. 524 T/C rs189313287 + CDS Synonymous[Leu81Leu]
532 .. 532 A/C rs1044499 + CDS Synonymous[Thr83Thr]
583 .. 583 G/A rs202143621 + CDS Nonsynonymous[Met100Ile]
588 .. 588 A/G rs63750944 + CDS Nonsynonymous[Asn102Ser]
602 .. 602 G/T rs63750653 + CDS Nonsynonymous[Asp107Tyr]
653 .. 653 C/T rs63750355 + CDS AA-STOP[Gln124*]
682 .. 682 T/C rs35414442 + CDS Synonymous[Ile133Ile]
699 .. 699 A/C rs454175 - CDS Nonsynonymous[Lys139Thr]
709 .. 709 A/G rs143178463 + CDS Synonymous[Ser142Ser]
716 .. 716 C/T rs63751048 + CDS AA-STOP[Arg145*]
720 .. 720 G/A rs78268395 + CDS Nonsynonymous[Ser146Asn]
727 .. 727 A/G rs187158507 + CDS Synonymous[Pro148Pro]
741 .. 741 C/T rs149380040 + CDS Nonsynonymous[Ser153Leu]
752 .. 752 A/C rs452942 - CDS Nonsynonymous[Ile157Leu]
778 .. 778 A/C rs63751126 + CDS Nonsynonymous[Gln165His]
857 .. 857 A/C rs407321 + 3'UTR
876 .. 876 C/A rs202169483 + 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