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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHMP2B Gene

protein-coding   GIFtS: 68
GCID: GC03P087360

Charged Multivesicular Body Protein 2B

(Previous name: chromatin modifying protein 2B)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Charged Multivesicular Body Protein 2B1 2     Vacuolar Protein-Sorting-Associated Protein 2-22
Chromatin Modifying Protein 2B1 2     VPS2 Homolog B2
CHMP2.52 3     CHMP2b3
DMT12 5     Vps2-23
VPS2B2 5     Chromatin-Modifying Protein 2b3
VPS2 Homolog B (S. Cerevisiae)1     hVps2-23
ALS172     Vacuolar Protein Sorting-Associated Protein 2-23
VPS2-22     

External Ids:    HGNC: 245371   Entrez Gene: 259782   Ensembl: ENSG000000839377   OMIM: 6095125   UniProtKB: Q9UQN33   

Export aliases for CHMP2B gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHMP2B Gene:
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, Jul 2008)

GeneCards Summary for CHMP2B Gene: 
CHMP2B (charged multivesicular body protein 2B) is a protein-coding gene. Diseases associated with CHMP2B include frontotemporal dementia, chromosome 3-linked, and dementia, familial, nonspecific, and among its related super-pathways are HIV Life Cycle and Budding and maturation of HIV virion. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is CHMP2A.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022459.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHMP2B gene promoter:
         USF1   POU3F1   USF2   POU3F2 (N-Oct-5a)   USF-1:USF-2   POU3F2   AREB6   USF-1   Sox9   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHMP2B promoter sequence
   Search SABiosciences Chromatin IP Primers for CHMP2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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 information about 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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)
1 PDB 3D structure from and Proteopedia for CHMP2B:
2JQK (3D)    
Secondary accessions: B4DJG8 Q53HC7 Q9Y4U6
Alternative splicing: 2 isoforms:  Q9UQN3-1   Q9UQN3-2   

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

Explore proteomics data for CHMP2B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UQN3

  • CHMP2B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHMP2B Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001231573.1  NP_054762.2  

    ENSEMBL proteins: 
     ENSP00000419998   ENSP00000263780   ENSP00000418920  
    Reactome Protein details: Q9UQN3
    Human Recombinant Protein Products for CHMP2B: 
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    ProSpec Recombinant Protein for CHMP2B
    Cloud-Clone Corp. Proteins for CHMP2B 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005829cytosol TAS--

    CHMP2B for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for CHMP2B


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CHMP: Charged multivesicular body proteins

    1 InterPro protein domain:
     IPR005024 Snf7

    Graphical View of Domain Structure for InterPro Entry Q9UQN3

    ProtoNet protein and cluster: Q9UQN3

    1 Blocks protein domain: 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


    CHMP2B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019904protein domain specific binding IPI17928862
         
    CHMP2B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CHMP2B:
     Decreased influenza A virus in  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHMP2B 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHMP2B 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCHMP2B 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHMP2B About                                                                                                See pathways by source

    SuperPathContained pathways About
    1HIV Life Cycle
    HIV Life Cycle0.92
    HIV Infection0.61
    Late Phase of HIV Life Cycle0.92
    2Endosomal Sorting Complex Required For Transport (ESCRT)
    Endosomal Sorting Complex Required For Transport (ESCRT)0.71
    Budding and maturation of HIV virion0.71
    3Membrane Trafficking
    Membrane Trafficking0.32
    4Endocytosis
    Endocytosis
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/7        Reactome Pathways for CHMP2B (see all 7)
        HIV Life Cycle
    HIV Infection
    Late Phase of HIV Life Cycle
    Membrane Trafficking
    Budding and maturation of HIV virion


    1         Kegg Pathway  (Kegg details for CHMP2B):
        Endocytosis


    CHMP2B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHMP2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/40 Interacting proteins for CHMP2B (Q9UQN32, 3 ENSP000002637804) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5C1P365422, 3MINT-63715 I2D: score=5 
    USP54Q70EL12, 3, ENSP000003452164MINT-6947293 I2D: score=1 STRING: ENSP00000345216
    USP8P408182, 3, ENSP000003022394MINT-6946846 I2D: score=1 STRING: ENSP00000302239
    VHLP403373, ENSP000002564744I2D: score=2 STRING: ENSP00000256474
    MALSU1Q96EH33, ENSP000004193704I2D: score=1 STRING: ENSP00000419370
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0015031protein transport IEA--
    GO:0016032viral process TAS--
    GO:0016197endosomal transport TAS--

    CHMP2B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHMP2B (CHM2B)

    Search CenterWatch for drugs/clinical trials and news about CHMP2B / CHM2B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHMP2B gene (2 alternative transcripts): 
    NM_001244644.1  NM_014043.3  

    Unigene Cluster for CHMP2B:

    Charged multivesicular body protein 2B
    Hs.476930  [show with all ESTs]
    Unigene Representative Sequence: NM_014043
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471660 ENST00000263780(uc003dqp.4 uc011bgn.2) ENST00000494980
    ENST00000472024 ENST00000466696

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    hsa-miR-30c hsa-miR-3910 hsa-miR-1271 hsa-miR-30d hsa-miR-30a hsa-miR-124 hsa-miR-9 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidCHMP2B 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

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

    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):

    CA415551 AI758571 AW139160 NM_014043 AA827714 BQ431448 AW084257 CR608494 
    BC001553 BM711509 BQ015665 BE122709 BG577426 BI821848 BE673478 AW301258 
    BM819875 N50963 AW089953 AI381331 BQ027480 AA635166 BM021941 BQ425645 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for CHMP2B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHMP2B expression in normal human tissues (normalized intensities)      CHMP2B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGAGCTTT
    CHMP2B Expression
    About this image


    CHMP2B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             bone marrow cd34+   
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   
     
     Umbilical Cord (Extraembryonic Tissues)
             stem cells (umbilical cord cd34+)   
     
     Neural Tube (Nervous System)
             Metencephalon

    See CHMP2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHMP2B

    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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHMP2B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CHMP2B gene from 10/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chmp2b1 , 5 charged multivesicular body protein 2B1, 5 89.51(n)1
    99.53(a)1
      16 (37.26 cM)5
    689421  NM_026879.21  NP_081155.11 
     655391335 
    chicken
    (Gallus gallus)
    Aves CHMP2B1 chromatin modifying protein 2B 85.45(n)
    94.84(a)
      418461  NM_001030792.1  NP_001025963.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHMP2B6
    charged multivesicular body protein 2B
    92(a)
    1 ↔ 1
    3(161362296-161396991)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC054301.12   -- 81.97(n)    BC054301.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.101962 Transcribed sequence with moderate similarity to protein more 77.12(n)    CA975755.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CHMP2B1 Charged multivesicular body protein 2b 53.11(n)
    52.75(a)
      38599  NM_139690.3  NP_647947.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C01A2.41 Protein C01A2.4 53.92(n)
    44.12(a)
      182050  NM_060956.3  NP_493357.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DID46
    Class E Vps protein of the ESCRT-III complex, requ...
    25(a)
    1 → many
    XI(437778-438544)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VPS2.31 vacuolar protein sorting-associated protein 2.3 49.18(n)
    37.75(a)
      839362  NM_100276.3  NP_563696.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g04764001 hypothetical protein 51.8(n)
    38.73(a)
      4348891  NM_001071383.1  NP_001064848.1 


    ENSEMBL Gene Tree for CHMP2B (if available)
    TreeFam Gene Tree for CHMP2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHMP2B gene
    CHMP2A2  
    2 SIMAP similar genes for CHMP2B using alignment to 3 protein entries:     CHM2B_HUMAN (see all proteins):
    CHMP3    CHMP2A

    CHMP2B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/628 SNPs in CHMP2B are shown (see all 628)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0383734
    Amyotrophic lateral sclerosis 17 (ALS17)4--see VAR_0383732 I V mis40--------
    VAR_0383744
    Amyotrophic lateral sclerosis 17 (ALS17)4--see VAR_0383742 Q H mis40--------
    VAR_0686894
    Amyotrophic lateral sclerosis 17 (ALS17)4--see VAR_0686892 T N mis40--------
    VAR_0233834
    Frontotemporal dementia, chromosome 3-linked (FTD3)4--see VAR_0233832 D Y mis40--------
    rs637508181,2
    Cpathogenic187241337(+) CTATAA/GTCAGA 3 I V mis1 int10--------
    rs637506531,2
    Cpathogenic187254010(+) TTGATG/TACATC 4 D Y mis10--------
    rs637503551,2
    Cpathogenic187254061(+) TGAATC/TAAGTT 4 Q * stg10--------
    rs637506521,2
    Cpathogenic187254300(+) ATATAA/C/GATGGC 4 -- spa10--------
    rs637510481,2
    Cpathogenic187254325(+) CTGCTC/TGAAGC 4 R * stg10--------
    rs637511261,2
    Cpathogenic187254387(+) CGGCAA/CCTCAA 4 Q H mis10--------

    HapMap Linkage Disequilibrium report for CHMP2B (87276413 - 87304698 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CHMP2B:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv877133CNV Loss21882294
    nsv877134CNV Loss21882294
    nsv877135CNV Loss21882294
    nsv877132CNV Loss21882294
    nsv527279CNV Gain19592680
    nsv877136CNV Gain21882294


    Human Gene Mutation Database (HGMD): CHMP2B

    Locus Specific Mutation Databases (LSDB): CHMP2B
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CHMP2B
    DNA2.0 Custom Variant and Variant Library Synthesis for CHMP2B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609512   
    OMIM disorders: 600795  
    UniProtKB/Swiss-Prot: CHM2B_HUMAN, Q9UQN3
  • Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]: 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]: An adult-onset progressive neurodegenerative
    disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper
    and lower limbs, bulbar signs, and respiratory insufficiency. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 16 diseases for CHMP2B:    About MalaCards
    frontotemporal dementia, chromosome 3-linked    dementia, familial, nonspecific    frontotemporal dementia    mutism
    progressive muscular atrophy    aphasia    dementia    hemochromatosis
    amyotrophic lateral sclerosis    lateral sclerosis    conjunctivitis    muscular atrophy
    cerebritis    alzheimer's disease    neuronitis    gastric cancer

    3 diseases from the University of Copenhagen DISEASES database for CHMP2B:
    Frontotemporal dementia     Amyotrophic lateral sclerosis     Progressive muscular atrophy

    CHMP2B for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    GeneTests: CHMP2B
    GeneReviews: CHMP2B
    Genetic Association Database (GAD): CHMP2B
    Human Genome Epidemiology (HuGE) Navigator: CHMP2B (6 documents)

    Export disorders for CHMP2B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CHMP2B gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with CHMP2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). (PubMed id 20352044)1, 2, 4 Cox L.E....Shaw P.J. (2010)
    2. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. (PubMed id 16941655)1, 4, 9 Rizzu P....van Swieten J.C. (2006)
    3. Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients. (PubMed id 20412296)1, 4 Kaivorinne A.L....Remes A.M. (2010)
    4. Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland. (PubMed id 19091059)1, 4 Kaivorinne A.L....Remes A.M. (2008)
    5. ESCRT-III recognition by VPS4 ATPases. (PubMed id 17928862)1, 2 Stuchell-Brereton M.D.... Sundquist W.I. (2007)
    6. 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)
    7. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). (PubMed id 16807408)1, 2 Parkinson N.... Fisher E.M. (2006)
    8. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. (PubMed id 16041373)1, 2 Skibinski G.... Collinge J. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHMP2B Pharmacogenomics, SNPs, Pathways

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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