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 cy... See more...

Aliases for CHMP2B Gene

Aliases for CHMP2B Gene

  • Charged Multivesicular Body Protein 2B 2 3 5
  • Charged Multivesicular Body Protein 2b 3 4
  • Chromatin Modifying Protein 2B 2 3
  • CHMP2.5 3 4
  • Vacuolar Protein-Sorting-Associated Protein 2-2 3
  • Vacuolar Protein Sorting-Associated Protein 2-2 4
  • Chromatin-Modifying Protein 2b 4
  • VPS2 Homolog B (S. Cerevisiae) 2
  • VPS2 Homolog B 3
  • HVps2-2 4
  • VPS2-2 3
  • CHMP2b 4
  • Vps2-2 4
  • ALS17 3
  • VPS2B 3
  • DMT1 3

External Ids for CHMP2B Gene

Previous GeneCards Identifiers for CHMP2B Gene

  • GC03P087360

Summaries for CHMP2B Gene

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 Amyotrophic Lateral Sclerosis 17. Among its related pathways are Budding and maturation of HIV virion and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include protein domain specific binding. An important paralog of this gene is CHMP2A.

UniProtKB/Swiss-Prot Summary for CHMP2B Gene

  • 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

Additional gene information for CHMP2B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHMP2B Gene

Genomics for CHMP2B Gene

GeneHancer (GH) Regulatory Elements for CHMP2B Gene

Promoters and enhancers for CHMP2B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J087226 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 507.8 +0.6 638 3.8 ZBTB40 ZNF217 SIN3A NRF1 USF1 POLR2G PHF8 ZFX POLR2A CLOCK CHMP2B MIR4795 POU1F1
GH03J087205 Enhancer 1 Ensembl ENCODE 10.5 -20.6 -20563 3 ZNF217 TCF12 NCOR1 FOS CUX1 ZBTB25 EP300 TEAD1 CTBP1 FOXA2 CHMP2B MIR4795 piR-30853-048
GH03J087332 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 6 +106.2 106244 2.6 ZNF217 TCF12 JUND FOS ZNF639 TRIM28 CUX1 EP300 TEAD1 ATF2 CHMP2B KRT8P25 piR-47086-184 HSALNG0027235
GH03J087088 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 6.9 -137.5 -137477 2.8 GABPA POLR2A SIN3A GATA1 YY1 TAF1 RBFOX2 LINC00506 CHMP2B piR-39341-251
GH03J087320 Enhancer 0.7 Ensembl dbSUPER 9.9 +93.4 93438 2.2 ZIC2 POLR2A FOXA1 ZNF335 SCRT1 TBP SMARCA4 TCF7L2 L3MBTL2 ZNF558 CHMP2B HSALNG0027235 KRT8P25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHMP2B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHMP2B

Top Transcription factor binding sites by QIAGEN in the CHMP2B gene promoter:
  • AREB6
  • Hlf
  • POU3F1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • Sox9
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for CHMP2B Gene

Genomic Locations for CHMP2B Gene
chr3:87,227,263-87,255,556
(GRCh38/hg38)
Size:
28,294 bases
Orientation:
Plus strand
chr3:87,276,413-87,304,698
(GRCh37/hg19)
Size:
28,286 bases
Orientation:
Plus strand

Genomic View for CHMP2B Gene

Genes around CHMP2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHMP2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHMP2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHMP2B Gene

Proteins for CHMP2B Gene

  • Protein details for CHMP2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQN3-CHM2B_HUMAN
    Recommended name:
    Charged multivesicular body protein 2b
    Protein Accession:
    Q9UQN3
    Secondary Accessions:
    • B4DJG8
    • Q53HC7
    • Q9Y4U6

    Protein attributes for CHMP2B Gene

    Size:
    213 amino acids
    Molecular mass:
    23907 Da
    Quaternary structure:
    • 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 sequentially. Interacts with CHMP2A. Interacts with VPS4A. Interacts with VPS4B; the interaction is direct.

    Three dimensional structures from OCA and Proteopedia for CHMP2B Gene

    Alternative splice isoforms for CHMP2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHMP2B Gene

Post-translational modifications for CHMP2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHMP2B Gene

No data available for DME Specific Peptides for CHMP2B Gene

Domains & Families for CHMP2B Gene

Gene Families for CHMP2B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CHMP2B Gene

Blocks:
  • Eukaryotic protein of unknown function DUF279
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHMP2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ95104 (B2RE76_HUMAN)
  • cDNA FLJ57117, highly similar to Charged multivesicular body protein 2b (B4DJG8_HUMAN)
  • Vacuolar protein sorting-associated protein 2-2 (CHM2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UQN3

UniProtKB/Swiss-Prot:

CHM2B_HUMAN :
  • 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).
  • Belongs to the SNF7 family.
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).
Family:
  • Belongs to the SNF7 family.
genes like me logo Genes that share domains with CHMP2B: view

Function for CHMP2B Gene

Molecular function for CHMP2B Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for CHMP2B Gene

Gene Ontology (GO) - Molecular Function for CHMP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16730941
GO:0019904 protein domain specific binding IPI 17928862
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with CHMP2B: view
genes like me logo Genes that share phenotypes with CHMP2B: view

Human Phenotype Ontology for CHMP2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CHMP2B Gene

Localization for CHMP2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHMP2B Gene

Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHMP2B gene
Compartment Confidence
endosome 5
cytosol 5
nucleus 4
mitochondrion 3
plasma membrane 2
extracellular 2
cytoskeleton 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CHMP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000815 ESCRT III complex TAS 20588296
GO:0005622 intracellular IDA --
GO:0005623 cell IEA --
GO:0005737 cytoplasm IDA,IEA 24878737
GO:0005764 colocalizes_with lysosome IDA 16041373
genes like me logo Genes that share ontologies with CHMP2B: view

Pathways & Interactions for CHMP2B Gene

genes like me logo Genes that share pathways with CHMP2B: view

Pathways by source for CHMP2B Gene

1 Cell Signaling Technology pathway for CHMP2B Gene

Gene Ontology (GO) - Biological Process for CHMP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy TAS 17683935
GO:0006997 nucleus organization IMP 20616062
GO:0007032 endosome organization IMP 16041373
GO:0007034 vacuolar transport IEA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
genes like me logo Genes that share ontologies with CHMP2B: view

No data available for SIGNOR curated interactions for CHMP2B Gene

Drugs & Compounds for CHMP2B Gene

No Compound Related Data Available

Transcripts for CHMP2B Gene

mRNA/cDNA for CHMP2B Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

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

Relevant External Links for CHMP2B Gene

GeneLoc Exon Structure for
CHMP2B

Expression for CHMP2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHMP2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHMP2B Gene

This gene is overexpressed in Breast (29.5) and Urine (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHMP2B Gene



Protein tissue co-expression partners for CHMP2B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHMP2B

SOURCE GeneReport for Unigene cluster for CHMP2B Gene:

Hs.476930

mRNA Expression by UniProt/SwissProt for CHMP2B Gene:

Q9UQN3-CHM2B_HUMAN
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.

Evidence on tissue expression from TISSUES for CHMP2B Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Lung(3.9)
  • Skin(3.2)
  • Eye(2.4)
  • Intestine(2.4)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHMP2B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Pelvis:
  • prostate
  • urinary bladder
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CHMP2B: view

No data available for mRNA differential expression in normal tissues for CHMP2B Gene

Orthologs for CHMP2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHMP2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHMP2B 31 30
  • 99.53 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHMP2B 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHMP2B 31 30
  • 95.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHMP2B 31 30
  • 94.68 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHMP2B 31
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chmp2b 17 31 30
  • 89.51 (n)
rat
(Rattus norvegicus)
Mammalia Chmp2b 30
  • 89.2 (n)
chicken
(Gallus gallus)
Aves CHMP2B 31 30
  • 85.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHMP2B 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chmp2b 30
  • 79.03 (n)
Str.639 30
zebrafish
(Danio rerio)
Actinopterygii chmp2ba 31
  • 81 (a)
OneToMany
chmp2bb 31 30
  • 74.49 (n)
OneToMany
Dr.10196 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9872 30
fruit fly
(Drosophila melanogaster)
Insecta CHMP2B 31 30
  • 53.11 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C01A2.4 31 30
  • 53.92 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DID4 31
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons VPS2.3 30
  • 48.96 (n)
rice
(Oryza sativa)
Liliopsida Os10g0476400 30
  • 53.43 (n)
Species where no ortholog for CHMP2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHMP2B Gene

ENSEMBL:
Gene Tree for CHMP2B (if available)
TreeFam:
Gene Tree for CHMP2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHMP2B: view image

Paralogs for CHMP2B Gene

Paralogs for CHMP2B Gene

(2) SIMAP similar genes for CHMP2B Gene using alignment to 3 proteins:

  • CHM2B_HUMAN
  • B2RE76_HUMAN
  • C9J0A7_HUMAN
genes like me logo Genes that share paralogs with CHMP2B: view

Variants for CHMP2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHMP2B Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
704275 Benign: not provided 87,240,692(+) C/T INTRON_VARIANT
704339 Likely Benign: not provided 87,240,728(+) C/T NONSENSE,INTRON_VARIANT
712214 Likely Benign: not provided 87,245,750(+) A/C MISSENSE_VARIANT
744776 Likely Benign: not provided 87,227,563(+) T/A INTRON_VARIANT
786504 Likely Benign: not provided 87,240,775(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CHMP2B Gene

Structural Variations from Database of Genomic Variants (DGV) for CHMP2B Gene

Variant ID Type Subtype PubMed ID
dgv908e214 CNV gain 21293372
esv3568885 CNV loss 25503493
nsv527279 CNV gain 19592680
nsv953231 CNV duplication 24416366

Variation tolerance for CHMP2B Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHMP2B Gene

Human Gene Mutation Database (HGMD)
CHMP2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHMP2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHMP2B Gene

Disorders for CHMP2B Gene

MalaCards: The human disease database

(35) MalaCards diseases for CHMP2B Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CHM2B_HUMAN
  • 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. {ECO:0000269 PubMed:16041373}. 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. {ECO:0000269 PubMed:16807408, ECO:0000269 PubMed:20352044}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHMP2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHMP2B: view

No data available for Genatlas for CHMP2B Gene

Publications for CHMP2B Gene

  1. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). (PMID: 20352044) Cox LE … Shaw PJ (PloS one 2010) 3 4 41 54
  2. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. (PMID: 16941655) Rizzu P … van Swieten JC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006) 3 23 41 54
  3. Immunopositivity for ESCRT-III subunit CHMP2B in granulovacuolar degeneration of neurons in the Alzheimer's disease hippocampus. (PMID: 20420883) Yamazaki Y … Matsumoto M (Neuroscience letters 2010) 3 23 54
  4. Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients. (PMID: 20412296) Kaivorinne AL … Remes AM (European journal of neurology 2010) 3 41 54
  5. Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland. (PMID: 19091059) Kaivorinne AL … Remes AM (BMC neurology 2008) 3 41 54

Products for CHMP2B Gene

Sources for CHMP2B Gene