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

CHMP4B Gene

protein-coding   GIFtS: 57
GCID: GC20P032399

charged multivesicular body protein 4B

(Previous names: chromosome 20 open reading frame 178, chromatin modifying...)
(Previous symbol: C20orf178)
 Explore 8 diseases affiliated with
CHMP4B via our new
 Human Malady Compendium 
Biological research products
for CHMP4B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Charged Multivesicular Body Protein 4B1 2     HVps32-21
C20orf1781 2 3     SNF7 Homolog Associated With Alix 12 3
SNF7-21 2 3     CTPP32 5
Shax11 2     SNF72 5
VPS32B1 2     Chromosome 20 Open Reading Frame 1781
Chromatin Modifying Protein 4B1 2     CHMP4A2
DJ553F4.41     Snf7 Homologue Associated With Alix 12
Chromatin-Modifying Protein 4b2 3     Vacuolar Protein-Sorting-Associated Protein 32-22
Vacuolar Protein Sorting-Associated Protein 32-22 3     CHMP4b3
Vps32-22 3     SHAX13
HSnf7-21     

External Ids:    HGNC: 161711   Entrez Gene: 1288662   Ensembl: ENSG000001014217   OMIM: 6108975   UniProtKB: Q9H4443   

Export aliases for CHMP4B gene to outside databases

Previous GC identifers: GC20P031863 GC20P029183


(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 CHMP4B:
This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein
family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III),
which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT
machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as
HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP,
also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached
5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to
help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant
posterior polar cataracts.(provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: CHM4B_HUMAN, Q9H444
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. When overexpressed, membrane-assembled circular arrays of CHMP4B filaments can promote or
stabilize negative curvature and outward budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and
p9-dependent virus release

Gene Wiki entry for CHMP4B


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHMP4B gene promoter:
         Bach1   NRSF form 1   HNF-4alpha2   NRSF form 2   HNF-4alpha1   YY1   MZF-1   PPAR-gamma1   c-Myb   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHMP4B promoter sequence
   Search SABiosciences Chromatin IP Primers for CHMP4B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHMP4B


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

Entrez Gene cytogenetic band: 20q11.22   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.22

CHMP4B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHMP4B gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P032399:  view genomic region     (about GC identifiers)

Start:
32,399,110 bp from pter      End:
32,442,173 bp from pter
Size:
43,064 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CHM4B_HUMAN, Q9H444 (See protein sequence)
Recommended Name: Charged multivesicular body protein 4b  
Size: 224 amino acids; 24950 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 CHMP6 and CHMP4C. Interacts
with PDCD6IP; the interaction is direct. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the
interaction is direct. Interacts with CHMP7. Interacts with CFTR; the interaction requires misfolded CFTR
Subcellular location: Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein (Probable)
Miscellaneous: Its overexpression strongly inhibits HIV-1 release
3 PDB 3D structures from and Proteopedia for CHMP4B:
3C3Q (3D)        3UM3 (3D)        4ABM (3D)    
Secondary accessions: E1P5N4 Q53ZD6

Explore the universe of human proteins at neXtProt for CHMP4B: NX_Q9H444

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H444

  • CHMP4B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_789782.1  
    ENSEMBL proteins: 
     ENSP00000217402  
    Reactome Protein details: Q9H444
    Human Recombinant Protein Products: 
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    Uscn Proteins for CHMP4B

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0031902late endosome membrane IEA--


    CHMP4B for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CHMP4B


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

    CHMP4B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005024 Snf7

    Graphical View of Domain Structure for InterPro Entry Q9H444

    ProtoNet protein and cluster: Q9H444

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

    UniProtKB/Swiss-Prot: CHM4B_HUMAN, Q9H444
    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
    Similarity: Belongs to the SNF7 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CHM4B_HUMAN, Q9H444
    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. When overexpressed, membrane-assembled circular arrays of CHMP4B filaments can promote or
    stabilize negative curvature and outward budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and
    p9-dependent virus release

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    hsa-miR-148b hsa-miR-4272 hsa-miR-301a hsa-miR-421 hsa-miR-450b-5p hsa-miR-130b hsa-miR-31* hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidCHMP4B 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHMP4B

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    CHMP4B for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CHMP4B:
     Decreased Hepatitis C virus re 

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Chmp4b):
     mortality/aging 

    CHMP4B for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Membrane Trafficking
    Membrane Trafficking1.00
    2Endocytosis
    Endocytosis1.00
    3Normal wtCFTR traffic / Sorting endosome formation
    Delta508-CFTR traffic / Sorting endosome formation in CF0.77
    4Clathrin-dependent protein traffic
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    5Signal Transduction
    Endosomal Sorting Complex Required For Transport (ESCRT)0.14

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for CHMP4B
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Delta508-CFTR traffic / Sorting endosome formation in CF

    2        Reactome Pathways for CHMP4B
        Membrane Trafficking
    Endosomal Sorting Complex Required For Transport (ESCRT)


    1         Kegg Pathway  (Kegg details for CHMP4B):
        Endocytosis


    CHMP4B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHMP4B

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

    5/51 Interacting proteins for CHMP4B (Q9H4442, 3 ENSP000002174024) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN23Q9H3S72, ENSP000002655624MINT-8311886 MINT-8311224 STRING: ENSP00000265562
    USP54Q70EL12, 3, ENSP000003452164MINT-6947335 I2D: score=1 STRING: ENSP00000345216
    USP8P408182, 3, ENSP000003022394MINT-6946874 I2D: score=1 STRING: ENSP00000302239
    PDCD6IPQ8WUM43, ENSP000003073874I2D: score=3 STRING: ENSP00000307387
    UBE2IP632793, ENSP000003248974I2D: score=3 STRING: ENSP00000324897
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0016044cellular membrane organization TAS--
    GO:0016197endosomal transport TAS--


    CHMP4B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 CHMP4B
    Search CenterWatch for drugs/clinical trials and news about CHMP4B / CHM4B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHMP4B gene: 
    NM_176812.4  

    Unigene Cluster for CHMP4B:

    Charged multivesicular body protein 4B
    Hs.472471  [show with all ESTs]
    Unigene Representative Sequence: BU150315
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000217402(uc002xaa.3)

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    hsa-miR-148b hsa-miR-4272 hsa-miR-301a hsa-miR-421 hsa-miR-450b-5p hsa-miR-130b hsa-miR-31* hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidCHMP4B 3' UTR sequence
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHMP4B
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    Additional cDNA sequence: 

    AB100261.1 AY329085.1 AY726594.1 BC033859.1 

    8 DOTS entries:

    DT.92338471  DT.75102292  DT.100041697  DT.100646924  DT.100830338  DT.86840033  DT.97855636  DT.97856222 

    24/308 AceView cDNA sequences (see all 308):

    BU678563 BM683804 R70779 AW000887 BF476328 CR623996 CR616273 BM662707 
    CK299196 CR601594 BC033859 BU730441 CR592058 AI679899 BM764311 BE829860 
    BM761739 AJ705441 AA907442 CR607577 BQ227872 AB100261 BM850170 CR610271 

    GeneLoc Exon Structure


    (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

    CHMP4B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCTGCACCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CHMP4B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHMP4B

    SOURCE GeneReport for Unigene cluster: Hs.472471

    UniProtKB/Swiss-Prot: CHM4B_HUMAN, Q9H444
    Tissue specificity: Widely expressed. Expressed at higher level in heart and skeletal muscle. Also expressed in brain,
    colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood lymphocytes

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    In Situ
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    (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 CHMP4B gene from 9/35 species (see all 35)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CHMP4B1 chromatin modifying protein 4B 83.03(n)
    92.79(a)
      419150  NM_001006286.1  NP_001006286.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHMP4B6
    --
    91(a)
    1 ↔ 1
    4(136918321-136933965)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.287422 Xenopus laevis transcribed sequence with weak similarity more 81.26(n)    BX855536.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc561122 hypothetical protein MGC56112 77.52(n)   393164  BC045919.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta shrb1 shrub 63.89(n)
    61.57(a)
      35933  NM_136618.4  NP_610462.3 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-32.11 Protein VPS-32.1 62.4(n)
    63.01(a)
      174091  NM_062936.5  NP_495337.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNF71 Snf7p 46.36(n)
    40.47(a)
      850712   NP_013125.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SNF7.21 vacuolar protein sorting-associated protein 32-1 50.18(n)
    42.93(a)
      816502  NM_127541.4  NP_179573.1 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 4)
    SNF7 domain containing protein, putative, expresse...
    SNF7 domain containing protein, putative, expresse...
    (see all 4)
    38(a)
    36(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    6(24217364-24222378)
    9(5102023-5105862)


    ENSEMBL Gene Tree for CHMP4B (if available)
    TreeFam Gene Tree for CHMP4B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHMP4B gene
    CHMP4C2  CHMP4A2  
    3 SIMAP similar genes for CHMP4B using alignment to 1 protein entry:     CHM4B_HUMAN:
    TM9SF1    CHMP4C    CHMP4A

    CHMP4B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CHMP4B
    PGOHUM00000248177


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/689 NCBI SNPs in CHMP4B are shown (see all 689    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs622096251,2
    C,F,--29182884(+) TAAGTA/GAGGAT 1 -- us2k14Minor allele frequency- G:0.16NA CSA 126
    rs61420261,2
    C,H--29183217(+) AACACC/GGTGGC 1 -- us2k14Minor allele frequency- G:0.00NS EA 418
    rs778161861,2
    --29183393(+) ATTTAA/GTACTG 1 -- us2k12Minor allele frequency- G:0.21CSA WA 120
    rs800322891,2
    --29184484(+) CCTCTC/GTCCAC 1 -- int12Minor allele frequency- G:0.19CSA WA 120
    rs787375931,2
    --29184773(+) AAAAGG/TGGACT 1 -- int12Minor allele frequency- T:0.21CSA WA 120
    rs1133130621,2
    C,--29185609(+) GATAAG/ATACTA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs754620581,2
    C,F,--29186080(+) AGGCAG/ACTGCA 1 -- int11Minor allele frequency- A:0.03WA 118
    rs61203811,2
    --29186363(+) agtctC/Tgctct 1 -- int10--------
    rs1120337981,2
    C,--29186615(+) CATGAG/ACCATC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs119079361,2
    H--29186635(+) cGTTTA/CTGCAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for CHMP4B (32399110 - 32442173 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CHMP4B: --
    Human Gene Mutation Database (HGMD): CHMP4B

    Locus Specific Mutation Databases (LSDB): CHMP4B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHMP4B
    DNA2.0 Custom Variant and Variant Library Synthesis for CHMP4B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CHMP4B for disorders           About GeneDecksing

    OMIM gene information: 610897   
    OMIM disorders: 605387  
    UniProtKB/Swiss-Prot: CHM4B_HUMAN, Q9H444
  • Defects in CHMP4B are the cause of cataract posterior polar type 3 (CTPP3) [MIM:605387]. A subcapsular
  • opacity, usually disk-shaped, located at the back of the lens. It can have a marked effect on visual acuity

    8 diseases for CHMP4B:    About MalaCards
    cataract, posterior polar, 3    cataract    posterior polar cataract    congenital cataracts
    mumps    conjunctivitis    immunodeficiency    malaria

    1 disease from the University of Copenhagen DISEASES database for CHMP4B:
    Mumps

    Export disorders for CHMP4B 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 CHMP4B gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with CHMP4B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CHMP4b is a major binding partner of the ALG-2-interacting protein Alix among the three CHMP4 isoforms. (PubMed id 14678797)1, 2, 3, 9 Katoh K....Maki M. (2004)
    2. Plasma membrane deformation by circular arrays of ESCRT-III protein filaments. (PubMed id 18209100)1, 2, 9 Hanson P.I....Heuser J.E. (2008)
    3. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. (PubMed id 17701905)1, 2, 9 Shiels A.... Hanson P.I. (2007)
    4. Structure and function of human Vps20 and Snf7 proteins. (PubMed id 14583093)1, 2, 9 Peck J.W.... Burbelo P.D. (2004)
    5. ALIX-CHMP4 interactions in the human ESCRT pathway. (PubMed id 18511562)1, 2 McCullough J....Hill C.P. (2008)
    6. Brox, a novel farnesylated Bro1 domain-containing protein that associates with charged multivesicular body protein 4 (CHMP4). (PubMed id 18190528)1, 2 Ichioka F.... Maki M. (2008)
    7. Potent rescue of human immunodeficiency virus type 1 late domain mutants by ALIX/AIP1 depends on its CHMP4 binding site. (PubMed id 17428861)1, 2 Usami Y....Gottlinger H.G. (2007)
    8. Human CHMP6, a myristoylated ESCRT-III protein, interacts directly with an ESCRT-II component EAP20 and regulates endosomal cargo sorting. (PubMed id 15511219)1, 2 Yorikawa C....Maki M. (2005)
    9. Misfolding diverts CFTR from recycling to degradation: quality control at early endosomes. (PubMed id 15007060)1, 2 Sharma M.... Lukacs G.L. (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
    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: 128866 HGNC: 16171 AceView: C20orf178 Ensembl:ENSG00000101421 euGenes: HUgn128866
    ECgene: CHMP4B Kegg: 128866 H-InvDB: CHMP4B

    (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 CHMP4B 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 CHMP4B gene:
    Search GeneIP for patents involving CHMP4B

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



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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