Aliases for CHMP7 Gene

Aliases for CHMP7 Gene

  • Charged Multivesicular Body Protein 7 2 3 4 5
  • Chromatin-Modifying Protein 7 3 4
  • CHMP Family, Member 7 2 3
  • MGC29816 2
  • CHMP7 5

External Ids for CHMP7 Gene

Previous GeneCards Identifiers for CHMP7 Gene

  • GC08P023027
  • GC08P023157
  • GC08P021647
  • GC08P023101

Summaries for CHMP7 Gene

GeneCards Summary for CHMP7 Gene

CHMP7 (Charged Multivesicular Body Protein 7) is a Protein Coding gene. Diseases associated with CHMP7 include Cerebellar Ataxia Type 48 and Attention Deficit-Hyperactivity Disorder. Among its related pathways are Budding and maturation of HIV virion and Necroptosis. Gene Ontology (GO) annotations related to this gene include protein transporter activity. An important paralog of this gene is CHMP5.

UniProtKB/Swiss-Prot Summary for CHMP7 Gene

  • ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope during late anaphase (PubMed:26040712). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Plays a role in the endosomal sorting pathway (PubMed:16856878).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHMP7 Gene

Genomics for CHMP7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CHMP7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHMP7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHMP7

Top Transcription factor binding sites by QIAGEN in the CHMP7 gene promoter:
  • ATF-2
  • c-Jun
  • POU2F1a
  • Sp1
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for CHMP7 Gene

Genomic Locations for CHMP7 Gene
chr8:23,243,637-23,262,000
(GRCh38/hg38)
Size:
18,364 bases
Orientation:
Plus strand
chr8:23,101,150-23,119,512
(GRCh37/hg19)
Size:
18,363 bases
Orientation:
Plus strand

Genomic View for CHMP7 Gene

Genes around CHMP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHMP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHMP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHMP7 Gene

Proteins for CHMP7 Gene

  • Protein details for CHMP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUX9-CHMP7_HUMAN
    Recommended name:
    Charged multivesicular body protein 7
    Protein Accession:
    Q8WUX9
    Secondary Accessions:
    • B2RDT3
    • B4DKJ6
    • D3DSS1
    • Q8NDM1
    • Q9BT50

    Protein attributes for CHMP7 Gene

    Size:
    453 amino acids
    Molecular mass:
    50911 Da
    Quaternary structure:
    • Interacts with CHMP4B, but not with VPS25.

    Alternative splice isoforms for CHMP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHMP7 Gene

Post-translational modifications for CHMP7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CHMP7 Gene

Domains & Families for CHMP7 Gene

Gene Families for CHMP7 Gene

Protein Domains for CHMP7 Gene

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

Suggested Antigen Peptide Sequences for CHMP7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57739, highly similar to Protein CHMP7 (B4DKJ6_HUMAN)
  • Chromatin-modifying protein 7 (CHMP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WUX9

UniProtKB/Swiss-Prot:

CHMP7_HUMAN :
  • Belongs to the SNF7 family.
Family:
  • Belongs to the SNF7 family.
genes like me logo Genes that share domains with CHMP7: view

Function for CHMP7 Gene

Molecular function for CHMP7 Gene

UniProtKB/Swiss-Prot Function:
ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope during late anaphase (PubMed:26040712). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Plays a role in the endosomal sorting pathway (PubMed:16856878).

Phenotypes From GWAS Catalog for CHMP7 Gene

Gene Ontology (GO) - Molecular Function for CHMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16856878
genes like me logo Genes that share ontologies with CHMP7: view
genes like me logo Genes that share phenotypes with CHMP7: view

Animal Model Products

CRISPR Products

miRNA for CHMP7 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHMP7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHMP7 Gene

Localization for CHMP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHMP7 Gene

Cytoplasm. Nucleus envelope. Note=Diffused localization, with some punctate distribution, especially in the perinuclear area (PubMed:16856878). Localizes to the nucleus envelope during late anaphase (PubMed:26040712). {ECO:0000269 PubMed:16856878, ECO:0000269 PubMed:26040712}.

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 CHMP7 gene
Compartment Confidence
nucleus 5
endosome 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 colocalizes_with chromatin IDA 28242692
GO:0000815 ESCRT III complex NAS 28242692
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,IDA 26040712
genes like me logo Genes that share ontologies with CHMP7: view

Pathways & Interactions for CHMP7 Gene

genes like me logo Genes that share pathways with CHMP7: view

Pathways by source for CHMP7 Gene

Gene Ontology (GO) - Biological Process for CHMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006900 vesicle budding from membrane IBA 21873635
GO:0006997 nucleus organization IMP 20616062
GO:0007034 vacuolar transport IEA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
GO:0010458 exit from mitosis IMP 26040712
genes like me logo Genes that share ontologies with CHMP7: view

No data available for SIGNOR curated interactions for CHMP7 Gene

Drugs & Compounds for CHMP7 Gene

No Compound Related Data Available

Transcripts for CHMP7 Gene

mRNA/cDNA for CHMP7 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHMP7

Alternative Splicing Database (ASD) splice patterns (SP) for CHMP7 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - -
SP2: - - - -
SP3: -
SP4: - -
SP5: - - - -
SP6: -
SP7: - - -
SP8:
SP9: -

Relevant External Links for CHMP7 Gene

GeneLoc Exon Structure for
CHMP7

Expression for CHMP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHMP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lymph (Hematopoietic System)

Protein differential expression in normal tissues from HIPED for CHMP7 Gene

This gene is overexpressed in Lymph node (17.9), Peripheral blood mononuclear cells (17.4), and Blymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHMP7 Gene



Protein tissue co-expression partners for CHMP7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHMP7

SOURCE GeneReport for Unigene cluster for CHMP7 Gene:

Hs.5019

Evidence on tissue expression from TISSUES for CHMP7 Gene

  • Nervous system(3.8)
genes like me logo Genes that share expression patterns with CHMP7: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHMP7 Gene

Orthologs for CHMP7 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHMP7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CHMP7 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CHMP7 30 31
  • 92.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CHMP7 31
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CHMP7 30 31
  • 91.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Chmp7 30 17 31
  • 90.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Chmp7 30
  • 90.07 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CHMP7 31
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CHMP7 30 31
  • 74.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CHMP7 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia chmp7 30
  • 56.5 (n)
Zebrafish
(Danio rerio)
Actinopterygii chmp7 30 31
  • 58.7 (n)
OneToOne
zgc73300 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012459 30
  • 41.62 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5498 30 31
  • 39.76 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea T24B8.2 30 31
  • 41.96 (n)
OneToOne
Species where no ortholog for CHMP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CHMP7 Gene

ENSEMBL:
Gene Tree for CHMP7 (if available)
TreeFam:
Gene Tree for CHMP7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHMP7: view image

Paralogs for CHMP7 Gene

Paralogs for CHMP7 Gene

(1) SIMAP similar genes for CHMP7 Gene using alignment to 5 proteins:

  • CHMP7_HUMAN
  • B4DKJ6_HUMAN
  • E5RFR8_HUMAN
  • E5RIU9_HUMAN
  • E5RJI3_HUMAN
genes like me logo Genes that share paralogs with CHMP7: view

Variants for CHMP7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHMP7 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
776297 Benign: not provided 23,258,380(+) C/T SYNONYMOUS_VARIANT
782034 Benign: not provided 23,258,812(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CHMP7 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHMP7 Gene

Variant ID Type Subtype PubMed ID
esv2736756 CNV deletion 23290073
esv2759604 CNV loss 17122850
nsv1017570 CNV gain 25217958
nsv1027718 CNV gain 25217958

Variation tolerance for CHMP7 Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHMP7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHMP7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHMP7 Gene

Disorders for CHMP7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CHMP7 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CHMP7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CHMP7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CHMP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHMP7 Gene

Publications for CHMP7 Gene

  1. CHMP7, a novel ESCRT-III-related protein, associates with CHMP4b and functions in the endosomal sorting pathway. (PMID: 16856878) Horii M … Maki M (The Biochemical journal 2006) 2 3 4
  2. Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing. (PMID: 26040712) Vietri M … Stenmark H (Nature 2015) 3 4
  3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 41
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for CHMP7 Gene

Sources for CHMP7 Gene