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CHMP4B Gene

protein-coding   GIFtS: 63
GCID: GC20P032399

Charged Multivesicular Body Protein 4B

(Previous names: chromosome 20 open reading frame 178, chromatin modifying...)
(Previous symbol: C20orf178)
  See CHMP4B-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)
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Aliases
Charged Multivesicular Body Protein 4B1 2     CTRCT312 5
C20orf1781 2 3     SNF72 5
Chromatin Modifying Protein 4B1 2     Chromosome 20 Open Reading Frame 1781
Chromatin-Modifying Protein 4b2 3     CHMP4A2
Vacuolar Protein Sorting-Associated Protein 32-22 3     Shax12
SNF7-22 3     VPS32B2
Vps32-22 3     dJ553F4.42
hSnf7-22 3     Snf7 Homologue Associated With Alix 12
hVps32-22 3     Vacuolar Protein-Sorting-Associated Protein 32-22
SNF7 Homolog Associated With Alix 12 3     CHMP4b3
CTPP32 5     SHAX13

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CHMP4B Gene:
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)

GeneCards Summary for CHMP4B Gene:
CHMP4B (charged multivesicular body protein 4B) is a protein-coding gene. Diseases associated with CHMP4B include cataract 31, multiple types, and cataract 6, multiple types. An important paralog of this gene is CHMP4C.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   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 Chromatin IP Primers for CHMP4B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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. Interacts with PTPN23
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

Explore proteomics data for CHMP4B at MOPED

Post-translational modifications: 

  • ISGylated. Isgylation weakens its interaction with VPS4A1
  • Ubiquitination2 at Lys6, Lys107
  • Modification sites at PhosphoSitePlus

  • See CHMP4B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_789782.1  
    ENSEMBL proteins: 
     ENSP00000217402  
    Reactome Protein details: Q9H444

    CHMP4B Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for CHMP4B 


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

    1 InterPro protein domain:
     IPR005024 Snf7

    Graphical View of Domain Structure for InterPro Entry Q9H444

    ProtoNet protein and cluster: Q9H444

    1 Blocks protein domain: 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


    Find genes that share domains with CHMP4B           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12860994
         
    Find genes that share ontologies with CHMP4B           About GenesLikeMe


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

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

    Find genes that share phenotypes with CHMP4B           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHMP4B
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    miRNA
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    miRTarBase miRNAs that target CHMP4B:
    hsa-mir-340-5p (MIRT019610)

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    Selected qRT-PCR Assays for microRNAs that regulate CHMP4B (see all 22):
    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
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CHMP4B

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CHM4B_HUMAN, Q9H444: Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome5
    mitochondrion2
    vacuole2
    lysosome1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0030496midbody IDA--
    GO:0031902late endosome membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CHMP4B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CHMP4B About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    2Budding and maturation of HIV virion
    Budding and maturation of HIV virion0.64
    Endosomal Sorting Complex Required For Transport (ESCRT)0.64
    3Clathrin dependent protein traffic
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    4Clathrin derived vesicle budding
    Membrane Trafficking0.32
    5Endocytosis
    Endocytosis


    Find genes that share SuperPaths with CHMP4B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    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
        Budding and maturation of HIV virion
    Endosomal Sorting Complex Required For Transport (ESCRT)


    1 Kegg Pathway  (Kegg details for CHMP4B):
        Endocytosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHMP4B
    Interactions:

        GeneGlobe Interaction Network for CHMP4B

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

    Selected Interacting proteins for CHMP4B (Q9H4441, 2, 3 ENSP000002174024) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN23Q9H3S71, 2, ENSP000002655624EBI-749627,EBI-724478 MINT-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): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0016032viral process TAS--
    GO:0016197endosomal transport TAS--
    GO:0019058viral life cycle TAS--
    GO:0061024membrane organization TAS--

    Find genes that share ontologies with CHMP4B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHMP4B (CHM4B)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
    miRNA
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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
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 308):

    AA053749 CR610271 AA907442 BM761369 BM761366 CR616273 AY329085 BM764311 
    BF515600 AI679899 CR625458 AA426154 BM850170 CR615678 AW000887 CR592058 
    AA310832 BF513757 CR623996 BU730441 AI088555 BM788975 R70779 AW958290 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CHMP4B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCTGCACCT
    CHMP4B Expression
    About this image


    CHMP4B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    CHMP4B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHMP4B Protein Expression

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHMP4B

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CHMP4B gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chmp4b1 , 5 charged multivesicular body protein 4B1, 5 91.96(n)1
    99.55(a)1
      2 (76.79 cM)5
    756081  NM_029362.31  NP_083638.11 
     1546517055 
    chicken
    (Gallus gallus)
    Aves CHMP4B1 chromatin modifying protein 4B 82.36(n)
    91.93(a)
      419150  NM_001006286.1  NP_001006286.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHMP4B6
    charged multivesicular body protein 4B
    89(a)
    1 ↔ 1
    4(136918313-136933965)
    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 63.59(n)
    61.75(a)
      35933  NM_136618.4  NP_610462.3 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-32.16
    vps-32.26
    Protein VPS-32.2 (vps-32.2) mRNA, complete cds
    61(a)
    55(a)
    many ↔ many
    many ↔ many
    II(6589290-6591086) WBGene00016961
    V(7849984-7851029) WBGene00016497
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNF71 SNF7 47.74(n)
    42.19(a)
      850712   NP_013125.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SNF7.11 SNF7.1 49.54(n)
    44.2(a)
      829037  NM_001084999.1  NP_001078468.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g02676001 Os09g0267600 48.31(n)
    43.85(a)
      4346566  NM_001069258.1  NP_001062723.1 


    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)
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    Paralogs for CHMP4B gene
    CHMP4C2  CHMP4A2  
    4 SIMAP similar genes for CHMP4B using alignment to 1 protein entry:     CHM4B_HUMAN:
    CHMP4BP1    CHMP4A    TM9SF1    CHMP4C

    Find genes that share paralogs with CHMP4B           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CHMP4B
    PGOHUM00000248177


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for CHMP4B (see all 876)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0375794
    Cataract 31, multiple types (CTRCT31)4--see VAR_0375792 D V mis40--------
    VAR_0375804
    Cataract 31, multiple types (CTRCT31)4--see VAR_0375802 E K mis40--------
    rs1497452531,2
    C--29194426(+) AAGCC-/CAGA  
      TTATTG
    CTATT
    1 -- int10--------
    rs2001516891,2
    --29205620(+) TTTTT-/TGTAGAG 1 -- int10--------
    rs1861816261,2
    --32404384(+) GTGAGA/CCACCG 1 -- us2k10--------
    rs1914759411,2
    C--32404424(+) TTTGAG/TACAGA 1 -- us2k10--------
    rs1171194271,2
    F--32404443(+) CTTTTC/TGCCCA 1 -- us2k11Minor allele frequency- T:0.07NA 120
    rs1505412011,2
    --32404468(+) AGCACA/GATTTC 1 -- us2k10--------
    rs1395298151,2
    --32404547(+) TTACAA/GGCGTG 1 -- us2k10--------
    rs680144791,2
    C--32404572(-) AAAAA-/ATTAGC 1 -- us2k12Minor allele frequency- A:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for CHMP4B (32399110 - 32442173 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CHMP4B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833961CNV Loss17160897
    nsv470548CNV Gain18288195
    nsv518926CNV Gain19592680
    nsv458965CNV Gain19166990

    Human Gene Mutation Database (HGMD): CHMP4B
    Locus Specific Mutation Databases (LSDB): CHMP4B

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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

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    OMIM gene information: 610897   
    OMIM disorders: 605387  
    UniProtKB/Swiss-Prot: CHM4B_HUMAN, Q9H444
  • Cataract 31, multiple types (CTRCT31) [MIM:605387]: An opacification of the crystalline lens of the eye
    that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a
    portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an
    opacity, the greater the impact on visual function. CTRCT31 includes posterior polar, progressive posterior
    subcapsular, nuclear, and anterior subcapsular cataracts. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 4 diseases for CHMP4B:    
    About MalaCards
    cataract 31, multiple types    cataract 6, multiple types    posterior polar cataract    hiv-1

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

    Find genes that share disorders with CHMP4B           About GenesLikeMe


    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

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    PubMed articles for CHMP4B gene, integrated from 10 sources (see all 54):
    (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. (Arch. Biochem. Biophys. 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. (J. Cell Biol. 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. (Am. J. Hum. Genet. 2007)
    4. Structure and function of human Vps20 and Snf7 proteins. (PubMed id 14583093)1, 2, 9 Peck J.W.... Burbelo P.D. (Biochem. J. 2004)
    5. ALIX-CHMP4 interactions in the human ESCRT pathway. (PubMed id 18511562)1, 2 McCullough J.... Hill C.P. (Proc. Natl. Acad. Sci. U.S.A. 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. (FEBS J. 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.... Goettlinger H.G. (J. Virol. 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. (Biochem. J. 2005)
    9. Misfolding diverts CFTR from recycling to degradation: quality control at early endosomes. (PubMed id 15007060)1, 2 Sharma M.... Lukacs G.L. (J. Cell Biol. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 128866 HGNC: 16171 AceView: C20orf178 Ensembl:ENSG00000101421 euGenes: HUgn128866
    ECgene: CHMP4B Kegg: 128866 H-InvDB: CHMP4B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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