H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
H-Inv gene family/group (HIF)
Accession number
Chromosome number
Chromosome band
Definition*
Data source ID
---
CCDS ID
dbSNP ID (rs number)
EC number
Ensembl ID
EntrezGene ID
FR ID
FR Accession number
GO ID
GO name*
HGNC gene symbol
HGNC gene name*
InterPro ID
InterPro name*
OMIM ID
OMIM title*
Pathway ID
Pathway name*
RefSeq (gene) ID
RefSeq (protein) ID
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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.
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
AK296072.1
CAGE tag ID
NA
EST ID
NA
Clone Number
BRTHA2001853
Experimental resources
NBRC
;
HGPD
;
Antibody (CHMP2B)
;
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
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
CGCAGGCGCCGCCTAGAAGTGACTTCTCCAAAAAGTGTGTTAGTTCCCGG TCACCTGAGCTCCGGGTGACGCGGCTGCGGTAGCTGCGGATACAAGCCTT CCGCGGGTCCTGCCTGGCGACCCCGACCTCCTCCTGCTGTCTCTCCGCTC CGCCACCCCGAACCCGCCAAGGTCCTGTCCTTTTCCTCCTGTCCTTTGCC AGCGTTGGGCCGGACCGGGCCGAGCCGGGCCGCCCGGGCGCAGTCTTTAA CCATGGCGTCCCTCTTCAAGAAGAAAACCGTGGATGGAATTAGAAATTAA GAAAATGGCCAAGATTGGTAATAAGGAAGCTTGCAAAGTTTTAGCCAAAC AACTTGTGCATCTACGGAAACAGAAGACGAGAACTTTTGCTGTAAGTTCA AAAGTTACTTCTATGTCTACACAAACAAAAGTGATGAATTCCCAAATGAA GATGGCTGGAGCAATGTCTACCACAGCAAAAACAATGCAGGCAGTTAACA AGAAGATGGATCCACAAAAGACATTACAAACAATGCAGAATTTCCAGAAG GAAAACATGAAAATGGAAATGACTGAAGAAATGATCAATGATACACTTGA TGACATCTTTGACGGTTCTGATGACGAAGAAGAAAGCCAGGATATTGTGA ATCAAGTTCTTGATGAAATTGGAATTGAAATTTCTGGAAAGATGGCCAAA GCTCCATCAGCTGCTCGAAGCTTACCATCTGCCTCTACTTCAAAGGCTAC AATCTCAGATGAAGAGATTGAACGGCAACTCAAGGCTTTAGGAGTAGATT AGTCAAAAGAAGTCATACTATTTTGCTTACTTATAATTATGTAGTATAAA CCAAGCACAGTGCAGATTTCTTTTACAAAACACATGTATTTTGC
Gene structure information
H-Inv cluster ID
HIX0003479
Genomic location
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
CHMP2B
;
*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links
H-DBAS
;
G-integra
;
cDNA-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
;
MELEIKKMAKIGNKEACKVLAKQLVHLRKQKTRTFAVSSKVTSMSTQTKV MNSQMKMAGAMSTTAKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEEM INDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAKAPSAARSLPSA STSKATISDEEIERQLKALGVD*
Motif information
a.a.
length
InterPro
Name
143
IPR005024
Snf7 family [Family]
Gene function information
H-Inv ID
HIT000490696
H-Inv cluster ID
HIX0003479
Accession number
AK296072.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Splicing isoform
Coding potential
Protein coding;
Definition
Similar to Charged multivesicular body protein 2b isoform 2.
Similarity category
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
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)
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
CHMP2B
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Auto-annotated
Notes
NA
Related H-InvDB links
Snf7 (IPR005024).
Similarity Search Tool;
TACT
;
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;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Disease/pathology information
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)
Gene name
Entrez Gene ID:(25978)
Disease
Entrez Gene ID:(25978)
Substance
Entrez Gene ID:(25978)
Related H-InvDB links
DiseaseInfo Viewer
;
LEGENDA
;
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
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
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;