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Aliases for CHMP7 Gene

Aliases for CHMP7 Gene

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

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. Among its related pathways are Necroptosis and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include protein transporter activity.

UniProtKB/Swiss-Prot 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).

Additional gene information for CHMP7 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHMP7 Gene

Genomics for CHMP7 Gene

GeneHancer (GH) Regulatory Elements for CHMP7 Gene

Promoters and enhancers for CHMP7 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
GH08I023242 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 568.3 +1.5 1536 5.5 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 ZNF610 GLIS1 NBN CHMP7 SORBS3 TNFRSF10A LOC105379326
GH08I023287 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 30.4 +44.7 44702 1.7 PKNOX1 ARNT ARID4B SIN3A DMAP1 IRF4 SLC30A9 POLR2B CBX5 ZNF213 R3HCC1 CHMP7 ENSG00000253200 CCAR2 C8orf58 LOXL2 LOC107986927 SORBS3 ENTPD4 BIN3
GH08I022603 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.4 -638.6 -638629 3.6 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC CCAR2 PIR62346 PIR54985 PIR42411 GC08P022605 C8orf58 ENSG00000253200 FAM160B2 ENTPD4 BIN3
GH08I023217 Enhancer 1.3 FANTOM5 Ensembl ENCODE 29.4 -24.1 -24062 4.9 HDGF ATF1 PKNOX1 SMAD1 IRF4 TCF12 GATA2 FOS ATF7 RUNX3 CHMP7 ENSG00000253200 TNFRSF10A LOC100507071 CCAR2 C8orf58 SORBS3 LOC107986927 TNFRSF10C R3HCC1
GH08I023073 Enhancer 1.5 Ensembl ENCODE dbSUPER 22.7 -168.7 -168736 2.6 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENSG00000253616 ENSG00000253200 C8orf58 FAM160B2 LOC107986927 CHMP7 BMP1 LOXL2 PHYHIP CCAR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHMP7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHMP7 gene promoter:

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)

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

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for CHMP7 Gene

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
GO:0008565 protein transporter activity IMP 16856878
genes like me logo Genes that share ontologies with CHMP7: view
genes like me logo Genes that share phenotypes with CHMP7: view

miRNA for CHMP7 Gene

Clone Products

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
cytosol 5
endosome 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (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:0005634 nucleus IDA --
GO:0005635 nuclear envelope IDA,IEA 26040712
GO:0005737 cytoplasm IEA --
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:0000920 cell separation after cytokinesis IMP 20616062
GO:0006810 transport IEA --
GO:0006997 nucleus organization IMP 20616062
GO:0007034 vacuolar transport IEA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
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

Unigene Clusters for CHMP7 Gene

Charged multivesicular body protein 7:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
CHMP7

Expression for CHMP7 Gene

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

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, PaxDb, MaxQB, and MOPED for CHMP7 Gene



Protein tissue co-expression partners for CHMP7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHMP7 Gene:

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 expression in embryonic tissues and stem cells from LifeMap Discovery , 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 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia CHMP7 33 34
  • 92.44 (n)
oppossum
(Monodelphis domestica)
Mammalia CHMP7 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHMP7 33 34
  • 91.85 (n)
mouse
(Mus musculus)
Mammalia Chmp7 33 16 34
  • 90.15 (n)
rat
(Rattus norvegicus)
Mammalia Chmp7 33
  • 90.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CHMP7 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHMP7 33 34
  • 74.81 (n)
lizard
(Anolis carolinensis)
Reptilia CHMP7 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chmp7 33
  • 56.5 (n)
zebrafish
(Danio rerio)
Actinopterygii chmp7 33 34
  • 58.7 (n)
zgc73300 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012459 33
  • 41.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5498 33 34
  • 39.76 (n)
worm
(Caenorhabditis elegans)
Secernentea T24B8.2 33 34
  • 41.96 (n)
Species where no ortholog for CHMP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • 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)

Paralogs for CHMP7 Gene

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

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

No data available for Paralogs for CHMP7 Gene

Variants for CHMP7 Gene

Sequence variations from dbSNP and Humsavar for CHMP7 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000189918 -- 23,262,139(+) G/A downstream_transcript_variant
rs1000328485 -- 23,262,004(+) C/T downstream_transcript_variant
rs1000371901 -- 23,262,138(+) C/A/T downstream_transcript_variant
rs1000492217 -- 23,258,029(+) C/T intron_variant
rs1000533343 -- 23,251,934(+) A/G intron_variant

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

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

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

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

Disorders for CHMP7 Gene

Additional Disease Information for CHMP7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CHMP7 Gene.

No data available for MalaCards , 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 58
  2. Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing. (PMID: 26040712) Vietri M … Stenmark H (Nature 2015) 3 4 58
  3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 44 58
  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 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for CHMP7 Gene

Sources for CHMP7 Gene

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