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CHMP2B Gene

protein-coding   GIFtS: 55

GC03P087360
chromatin modifying protein 2B
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

Aliases &
Descriptions
for CHMP2B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
chromatin modifying protein 2B1 2     OTTHUMP000002138122
CHMP2.51 2 3     vacuolar protein-sorting-associated protein 2-22
VPS2B1 2 5     DKFZp564O1232
Chromatin-modifying protein 2b2 3     VPS2 homolog B2
Vacuolar protein sorting-associated protein 2-22 3     VPS2-22
hVps2-22 3     charged multivesicular body protein 2b2
DMT12 5     Vps2-23
DKFZP564O1231     CHMP2b3
OTTHUMP000002138132     

External Ids:    HGNC: 245371   Entrez Gene: 259782   Ensembl: ENSG000000839377   UniProtKB: Q9UQN33   

Export aliases for CHMP2B gene to outside databases


Summaries
for CHMP2B gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CHMP2B:
This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport
III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the
concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by
this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is
expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial
frontotemporal lobar degeneration. (provided by RefSeq)

UniProtKB/Swiss-Prot: CHM2B_HUMAN, Q9UQN3
Function: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is
involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain
intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the
endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth
factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O,
-I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is
released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal
stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are
believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with
the AAA ATPase VPS4

Gene Wiki entry for CHMP2B

Genomic Views
for CHMP2B gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHMP2B gene promoter:
         MRF-2   RORalpha2   POU2F1   PPAR-gamma2   PPAR-gamma1   FOXJ2 (long isoform)   POU2F2 (Oct-2.1)   POU2F2   oct-B3   Oct-B1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CHMP2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for CHMP2B 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p11.2   Ensembl cytogenetic band:  3p11.2   HGNC cytogenetic band: 3p12.1

CHMP2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHMP2B gene location

GeneLoc gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P087360:  view genomic region     (about GC identifiers)

Start:
 87,276,413 bp from pter
End:
 87,304,698 bp from pter
Size:
 28,286 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000003.11  NT_022459.15  

Proteins
for CHMP2B gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section
UniProtKB/Swiss-Prot: CHM2B_HUMAN, Q9UQN3 (See protein sequence)
Recommended Name: Charged multivesicular body protein 2b  
Size: 213 amino acids; 23907 Da
Subunit: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III
components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several
assembly forms of ESCRT-III may exist that interact and act sequentally. Interacts with CHMP2A. Interacts with VPS4A.
Interacts with VPS4B; the interaction is direct
Subcellular location: Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein (Probable)
PDB structures from and Proteopedia :
2JQK (3D)    
Secondary accessions: Q53HC7 Q9Y4U6

Explore the universe of human proteins at neXtProt for CHMP2B: NX_Q9UQN3 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_054762.2  

    ENSEMBL proteins: 
    ENSP00000263780 ENSP00000419998 ENSP00000418920 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for CHMP2B 
    Novus Biologicals Protein for CHMP2B
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/8 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular IDA11256614
    GO:0005634 nucleus IDA18029348
    GO:0005737 cytoplasm IDA18029348
    GO:0005739 mitochondrion IDA18029348
    GO:0005768 endosome IEA--
    About this table

    CHMP2B for ontologies           About GeneDecksing



    Antibodies for CHMP2B: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for CHMP2B
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for CHMP2B 
    Novus Biologicals Antibodies for CHMP2B
    Browse antibodies at Epitomics

    Assays for CHMP2B: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CHMP2B 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CHMP2B 

    Protein Domains/
    Families
    for CHMP2B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CHMP2B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005024 Snf7

    Graphical View of Domain Structure for InterPro Entry Q9UQN3

    ProtoNet protein and cluster: Q9UQN3

    1 Blocks protein family: IPB005024 Eukaryotic protein of unknown function DUF279

    UniProtKB/Swiss-Prot: CHM2B_HUMAN, Q9UQN3
    Domain: The acidic C-terminus and the basic N-termminus are thought to render the protein in a closed, soluble and
    inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which
    enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners,
    probably including other ESCRT components (By similarity)
    Similarity: Belongs to the SNF7 family


    Gene Function
    for CHMP2B gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: CHM2B_HUMAN, Q9UQN3
    Function: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is
    involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain
    intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the
    endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth
    factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O,
    -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is
    released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal
    stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are
    believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with
    the AAA ATPase VPS4

    Inhib.
    RNA:            		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for CHMP2B
    Sigma-Aldrich shRNA for CHMP2B
    OriGene 29mer shRNA kits in GFP-retroviral vector: CHMP2B
    OriGene shRNA RFP: CHMP2B
    OriGene basic RS shRNA: CHMP2B
    OriGene siRNA: CHMP2B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CHMP2B 
    miRNA:Sigma-Aldrich microRNA Mimics for CHMP2B
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CHMP2B 
    8/11 SABiosciences Assays for microRNAs that regulate CHMP2B (see all 11):
    hsa-miR-30c hsa-miR-1271 hsa-miR-30d hsa-miR-30a hsa-miR-182 hsa-miR-129-5p hsa-miR-940 hsa-miR-30b

    Gene
    Editing:    		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: CHMP2B
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: CHMP2B
    OriGene untagged cDNA clones in CMV expression vector: CHMP2B
    OriGene 3'-UTR clone: CHMP2B 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CHMP2B 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for CHMP2B 

    2 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI17353931
    GO:0019904 protein domain specific binding IPI17928862
    About this table

    CHMP2B for ontologies           About GeneDecksing


    Pathways & Interactions
    for CHMP2B gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    CHMP2B for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  CHMP2B
        Mechanisms of Viral Exit from Host Cells

    1 Kegg Pathway  (Kegg details for CHMP2B):
        hsa04144 Endocytosis

        SABiosciences Custom Pathway-Focused PCR Arrays for CHMP2B 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for CHMP2B
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHMP2B

    5 Interacting proteins for CHMP2B (Q9UQN31, 2) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VHLP403371EBI-718324,EBI-301246
    ATP5C1P365422MINT-63715
    USP54Q70EL12MINT-6947293
    USP8P408182MINT-6946846
    --A8K1072MINT-67299
    About this table

    1 Gene Ontology (GO) biological process term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031 protein transport IEA--
    About this table

    CHMP2B for ontologies           About GeneDecksing



    Drugs & Compounds
    for CHMP2B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHMP2B


    Transcripts
    for CHMP2B gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for CHMP2B
    Sigma-Aldrich shRNA for CHMP2B
    OriGene 29mer shRNA kits in GFP-retroviral vector: CHMP2B
    OriGene shRNA RFP: CHMP2B
    OriGene basic RS shRNA: CHMP2B
    OriGene siRNA: CHMP2B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CHMP2B 
    miRNA: Sigma-Aldrich microRNA Mimics for CHMP2B
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CHMP2B 
    8/11 SABiosciences Assays for microRNAs that regulate CHMP2B (see all 11):
    hsa-miR-30c hsa-miR-1271 hsa-miR-30d hsa-miR-30a hsa-miR-182 hsa-miR-129-5p hsa-miR-940 hsa-miR-30b
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: CHMP2B
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: CHMP2B
    OriGene untagged cDNA clones in CMV expression vector: CHMP2B
    OriGene 3'-UTR Clone: CHMP2B 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CHMP2B 
    Primers: OriGene genome-wide validated SYBR primer pairs: CHMP2B
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CHMP2B: PPH07791A

    REFSEQ mRNAs for CHMP2B gene: 

    NM_014043.3  

    Additional cDNA sequence: 

    AF151842.1 AK002165.1 AK002180.1 AK222654.1 AK296072.1 AK316585.1 AL080122.1 BC001553.1 
    CR533456.1 CR608494.1 

    8 DOTS entries:

    DT.313908  DT.100824516  DT.99961828  DT.95210760  DT.120866110  DT.91760603  DT.99960690  DT.120866118 

    24/287 AceView cDNA sequences (see all 287):

    BQ431448 BG577426 AI381331 CA415551 CK904144 AI758571 AW084257 BE673478 
    BC001553 AA827714 BE122709 NM_014043 BM711509 CR608494 BM982148 BQ027480 
    BM819875 BQ425645 BI821848 AA635166 AW301258 AW139160 N50963 BM021941 

    highest scoring ESTs for CHMP2B:

    AL080122 AA133195 AA133210 AA134133 AA161287 AA433891 AA434569 AA689365 AA721023 AA747495 

    Unigene Cluster for CHMP2B:

    Chromatin modifying protein 2B
    Hs.476930  [show with all ESTs]
    Unigene Representative Sequence: NM_014043


    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CHMP2B

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b
    SP1:                          -                                                   
    SP2:                          -                       -                           
    SP3:                          -     -                                             
    SP4:                                                                              

    About this scheme

    ECgene alternative splicing isoforms for CHMP2B
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263780(uc003dqp.3 uc011bgn.1) ENST00000472024 ENST00000466696
    ENST00000471660 ENST00000494980

    Expression
    for CHMP2B gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    CHMP2B expression in normal and diseased human tissues

    1  / 2  / 3

    7 probe-sets matching CHMP2B gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    39034_at2, 3 U95-A 1 0.88 1.00 1.00 1.00 AL080122 1.00 1.00 1.00 1
    202537_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF151842 0.80 1.00 0.91 1
    202538_s_at2, 3 U133-A 1 0.91 1.00 -- -- NM_014043 0.60 1.00 0.82 1
    202536_at2, 3 U133-A 1 0.82 1.00 -- -- AK002165 0.80 1.00 0.91 1
    202537_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    202538_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    202536_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    About this table

    CHMP2B for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    CHMP2B gene expression
    CHMP2B gene electronic northern expression
    CHMP2B gene sage expression
    About these images

    CGAP SAGE TAG: TGGGAGCTTT

    SOURCE GeneReport for Unigene cluster: Hs.476930

    UniProtKB/Swiss-Prot: CHM2B_HUMAN, Q9UQN3
    Tissue specificity: Widely expressed. Expressed in brain, heart, skeletal muscle, spleen, kidney, liver, small
    intestine, pancreas, lung, placenta and leukocytes. In brain, it is expressed in cerebellum, cerebral cortex, medulla,
    spinal chord, occipital lobe, frontal lobe, temporal lobe and putamen

    Primers: OriGene genome-wide validated SYBR primer pairs: CHMP2B
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CHMP2B: PPH07791A
        SABiosciences Custom PCR Arrays for CHMP2B 


    Orthologs
    for CHMP2B gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for CHMP2B gene from 5/12 species (see all 12)
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 CHMP2B1   -- chromatin modifying protein 2B 94.52(n)
    99.53(a)    		 487675  XM_544799.2  XP_544799.2 
    chimpanzee
    (Pan troglodytes)    		 CHMP2B1   -- chromatin modifying protein 2B 100(n)
    100(a)    		 747711  XM_001173977.1  XP_001173977.1 
    cow
    (Bos taurus)    		 CHMP2B1   -- chromatin modifying protein 2B 95.46(n)
    99.06(a)    		 615954  NM_001035472.1  NP_001030549.1 
    mouse
    (Mus musculus)    		 Chmp2b5 16 (37.26 cM) chromatin modifying protein 2B   -- BG084517 
    chicken
    (Gallus gallus)    		 CHMP2B1   -- chromatin modifying protein 2B 85.29(n)
    94.84(a)    		 418461  NM_001030792.1  NP_001025963.1 
    About this table        Species with no ortholog for CHMP2B

    ENSEMBL Gene Tree for CHMP2B (if available)

    Paralogs
    for CHMP2B gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for CHMP2B gene
    CHMP2A2  

    CHMP2B for paralogs           About GeneDecksing



    Genomic Variants
    for CHMP2B gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/257 NCBI SNPs in CHMP2B are shown (see all 257)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 3 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs107811,2
    		--87303840(+) TGAATA/TAATAA 1 -- ut310--------
    rs114261,2
    		C,F,87304560(+) ATTTAC/TRTTCT 1 -- ut31 ese37Minor allele frequency- T:0.01MN WA 630
    rs3840941,2
    		--87303586(-) TAGGTC/TTGTGC 1 -- ut31 ese34Minor allele frequency- T:0.00EA NA MN 242
    rs3843811,2
    		--87285082(-) gagttC/Ttgaga 1 -- int10--------
    rs3908571,2
    		--87303461(-) GCACTC/TTTCTT 1 -- ut31 trp34Minor allele frequency- T:0.00EA NA MN 246
    rs3934391,2
    		F87303238(-) TTTCTC/TTGTGC 1 -- ut31 ese31Minor allele frequency- T:0.03MN 184
    rs3987821,2
    		--87305057(+) CACTGG/TGAATT 1 -- ng310--------
    rs4023751,2
    		--87303124(-) AGATTC/TTAAAT 1 -- ut311Minor allele frequency- T:0.00MN 184
    rs4066021,2
    		H87283814(-) CATAAT/CAGGTG 1 -- int15Minor allele frequency- C:0.00MN NS EA 604
    rs4073211,2
    		--87303027(+) CAAGCA/CCAGTG 1 -- ut31 ese30--------
    About this table

    HapMap Linkage Disequilibrium images for CHMP2B (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CHMP2B: --

    QIAGEN SeqTarget long-range PCR primers for resequencing CHMP2B 

    Disorders & Mutations
    for CHMP2B gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CHMP2B for disorders           About GeneDecksing

    OMIM: 609512

    UniProtKB/Swiss-Prot: CHM2B_HUMAN, Q9UQN3

  • Defects in CHMP2B are the cause of frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]. FTD3 is
    • characterized by an onset of dementia in the late 50's initially characterized by behavioral and personality changes
    including apathy, restlessness, disinhibition and hyperorality, progressing to stereotyped behaviors, non-fluent
    aphasia, mutism and dystonia, with a marked lack of insight. The brains of individuals with FTD3 have no distinctive
    neuropathological features. They show global cortical and central atrophy, but no beta-amyloid deposits

    GeneTests: CHMP2B

    CHMP2B-Related Frontotemporal Dementia

    Human Gene Mutation Database (HGMD): CHMP2B
    Human Genome Epidemiology (HuGE) Navigator: CHMP2B (6 documents)

    Export disorders and mutations for CHMP2B gene to outside databases

    Medical News
    for CHMP2B gene

    (Possibly Related Articles in Doctor's Guide)
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    Publications
    for CHMP2B gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/51 PubMed articles for CHMP2B gene, integrated from 7 sources (see all 51):
    (articles sorted by number of sources associating them with CHMP2B)
    1. ESCRT-III recognition by VPS4 ATPases. (PubMed id 17928862)1, 2 Stuchell-Brereton M.D.... Sundquist W.I. (2007)
    2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    3. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). (PubMed id 16807408)1, 2 Parkinson N.... Fisher E.M. (2006)
    4. Phosphoproteome analysis of the human mitotic spindle. (PubMed id 16565220)1, 2 Nousiainen M.... Koerner R. (2006)
    5. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. (PubMed id 16041373)1, 2 Skibinski G.... Collinge J. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins. (PubMed id 14519844)1, 2 Martin-Serrano J.... Bieniasz P.D. (2003)
    8. CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. (PubMed id 11559748)1, 3 Howard T.L....Hollenberg S.M. (2001)
    9. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    10. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)

    External Searches for CHMP2B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing CHMP2B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 25978 HGNC: 24537 AceView: DKFZP564O123 Ensembl:ENSG00000083937 euGenes: HUgn25978
    ECgene: CHMP2B Kegg: 25978 H-InvDB: CHMP2B

    Other Databases showing CHMP2B gene

    (According to HUGE)
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    Specialized Databases showing CHMP2B gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    Intellectual Property
    for CHMP2B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    		Patent Information for CHMP2B gene:
    Search GeneIP for patents involving CHMP2B

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    Products
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