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Aliases for COMMD7 Gene

Aliases for COMMD7 Gene

  • COMM Domain Containing 7 2 3 5
  • C20orf92 3 4
  • Chromosome 20 Open Reading Frame 92 2
  • COMM Domain-Containing Protein 7 3
  • DJ1085F17.3 3

External Ids for COMMD7 Gene

Previous HGNC Symbols for COMMD7 Gene

  • C20orf92

Previous GeneCards Identifiers for COMMD7 Gene

  • GC20M032032
  • GC20M030754
  • GC20M031290
  • GC20M028079

Summaries for COMMD7 Gene

GeneCards Summary for COMMD7 Gene

COMMD7 (COMM Domain Containing 7) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include NF-kappaB binding.

UniProtKB/Swiss-Prot for COMMD7 Gene

  • May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Associates with the NF-kappa-B complex and suppresses its transcriptional activity (PubMed:15799966).

Additional gene information for COMMD7 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 COMMD7 Gene

Genomics for COMMD7 Gene

GeneHancer (GH) Regulatory Elements for COMMD7 Gene

Promoters and enhancers for COMMD7 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
GH20I032741 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 550.8 +0.3 282 4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A ZNF766 ZNF143 SP3 COMMD7 MAPRE1 ENSG00000260257 BAK1P1
GH20I032680 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.5 +62.4 62379 2.7 HDGF PKNOX1 ARNT SLC30A9 ZNF766 CBX5 FOS MXD4 REST ZNF592 COMMD7 PLAGL2 ENSG00000260257 C20orf203 BPIFB3 BAK1P1
GH20I032684 Enhancer 1.2 Ensembl ENCODE 24.3 +58.1 58090 2.2 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 SLC30A9 PAF1 SP5 NFYC COMMD7 C20orf203 BAK1P1 ENSG00000260257
GH20I032580 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 +161.2 161190 5.6 HDGF PKNOX1 SMAD1 ARNT ARID4B FEZF1 SLC30A9 ZNF766 ZNF263 SP5 NOL4L ENSG00000228156 ENSG00000233293 COMMD7 NOL4L-DT C20orf203 DNMT3B
GH20I032521 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11.1 +218.3 218328 8.9 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 SLC30A9 ZNF143 ENSG00000233293 NOL4L COMMD7 HCK MAPRE1 C20orf203 NOL4L-DT ENSG00000260257 PLAGL2 LOC105372592
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COMMD7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COMMD7 gene promoter:

Genomic Locations for COMMD7 Gene

Genomic Locations for COMMD7 Gene
chr20:32,702,691-32,744,008
(GRCh38/hg38)
Size:
41,318 bases
Orientation:
Minus strand
chr20:31,290,493-31,331,814
(GRCh37/hg19)

Genomic View for COMMD7 Gene

Genes around COMMD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COMMD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COMMD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COMMD7 Gene

Proteins for COMMD7 Gene

  • Protein details for COMMD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VX2-COMD7_HUMAN
    Recommended name:
    COMM domain-containing protein 7
    Protein Accession:
    Q86VX2
    Secondary Accessions:
    • A2BHJ2
    • B3KTZ2
    • Q5JYB0
    • Q96SI7
    • Q9BW53

    Protein attributes for COMMD7 Gene

    Size:
    200 amino acids
    Molecular mass:
    22540 Da
    Quaternary structure:
    • Interacts (via COMM domain) with COMMD1 (via COMM domain). Interacts with RELA. Interacts with CCDC22, CCDC93, SCNN1B, CUL7.

    Alternative splice isoforms for COMMD7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COMMD7 Gene

Post-translational modifications for COMMD7 Gene

No data available for DME Specific Peptides for COMMD7 Gene

Domains & Families for COMMD7 Gene

Gene Families for COMMD7 Gene

Protein Domains for COMMD7 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COMMD7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COMMD7: view

No data available for UniProtKB/Swiss-Prot for COMMD7 Gene

Function for COMMD7 Gene

Molecular function for COMMD7 Gene

UniProtKB/Swiss-Prot Function:
May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Associates with the NF-kappa-B complex and suppresses its transcriptional activity (PubMed:15799966).

Phenotypes From GWAS Catalog for COMMD7 Gene

Gene Ontology (GO) - Molecular Function for COMMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15799966
GO:0051059 NF-kappaB binding IDA 15799966
genes like me logo Genes that share ontologies with COMMD7: view
genes like me logo Genes that share phenotypes with COMMD7: view

Animal Model Products

CRISPR Products

miRNA for COMMD7 Gene

miRTarBase miRNAs that target COMMD7

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COMMD7 Gene

Localization for COMMD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COMMD7 Gene

Cytoplasmic vesicle.

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 COMMD7 gene
Compartment Confidence
extracellular 5
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COMMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with COMMD7: view

Pathways & Interactions for COMMD7 Gene

SuperPathways for COMMD7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for COMMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0032088 negative regulation of NF-kappaB transcription factor activity IDA 15799966
GO:0033209 tumor necrosis factor-mediated signaling pathway IDA 15799966
GO:0045892 negative regulation of transcription, DNA-templated IDA 15799966
genes like me logo Genes that share ontologies with COMMD7: view

No data available for Pathways by source and SIGNOR curated interactions for COMMD7 Gene

Drugs & Compounds for COMMD7 Gene

No Compound Related Data Available

Transcripts for COMMD7 Gene

Unigene Clusters for COMMD7 Gene

COMM domain containing 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for COMMD7 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: - -
SP2:
SP3: - -
SP4: -

Relevant External Links for COMMD7 Gene

GeneLoc Exon Structure for
COMMD7
ECgene alternative splicing isoforms for
COMMD7

Expression for COMMD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COMMD7 Gene

Protein differential expression in normal tissues from HIPED for COMMD7 Gene

This gene is overexpressed in Bone (18.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COMMD7 Gene



Protein tissue co-expression partners for COMMD7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COMMD7 Gene:

COMMD7

SOURCE GeneReport for Unigene cluster for COMMD7 Gene:

Hs.408427

mRNA Expression by UniProt/SwissProt for COMMD7 Gene:

Q86VX2-COMD7_HUMAN
Tissue specificity: Widely expressed with highest expression in lung.

Evidence on tissue expression from TISSUES for COMMD7 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Eye(4.1)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with COMMD7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COMMD7 Gene

Orthologs for COMMD7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COMMD7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COMMD7 33 34
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia COMMD7 33 34
  • 94.3 (n)
cow
(Bos Taurus)
Mammalia COMMD7 33 34
  • 92.63 (n)
rat
(Rattus norvegicus)
Mammalia Commd7 33
  • 88.78 (n)
mouse
(Mus musculus)
Mammalia Commd7 33 16 34
  • 88.61 (n)
oppossum
(Monodelphis domestica)
Mammalia COMMD7 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves COMMD7 33 34
  • 74.67 (n)
lizard
(Anolis carolinensis)
Reptilia COMMD7 34
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii commd7 33 34
  • 61.33 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6641 34
  • 34 (a)
OneToOne
Species where no ortholog for COMMD7 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COMMD7 Gene

ENSEMBL:
Gene Tree for COMMD7 (if available)
TreeFam:
Gene Tree for COMMD7 (if available)

Paralogs for COMMD7 Gene

No data available for Paralogs for COMMD7 Gene

Variants for COMMD7 Gene

Sequence variations from dbSNP and Humsavar for COMMD7 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000129835 -- 32,711,901(-) T/C intron_variant
rs1000154581 -- 32,742,002(-) A/G intron_variant
rs1000239636 -- 32,716,523(-) G/A intron_variant
rs1000270063 -- 32,716,389(-) G/C intron_variant
rs1000314021 -- 32,703,712(-) T/C 3_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for COMMD7 Gene

Variant ID Type Subtype PubMed ID
nsv955122 CNV deletion 24416366
nsv833956 CNV loss 17160897
nsv512611 CNV loss 21212237
nsv512610 CNV loss 21212237
nsv1149719 CNV deletion 26484159
nsv1114212 CNV deletion 24896259
nsv1070389 CNV deletion 25765185
nsv1061436 CNV gain 25217958
nsv1056411 CNV loss 25217958
esv994647 CNV deletion 20482838
esv3645670 CNV loss 21293372
esv3557003 CNV deletion 23714750
esv3557002 CNV deletion 23714750
esv3069346 CNV deletion 24192839
esv2722345 CNV deletion 23290073
esv2665382 CNV deletion 23128226
esv2659067 CNV deletion 23128226
esv2656560 CNV deletion 23128226
esv2552132 CNV deletion 19546169
dgv2240n106 CNV deletion 24896259

Variation tolerance for COMMD7 Gene

Residual Variation Intolerance Score: 49.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COMMD7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COMMD7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COMMD7 Gene

Disorders for COMMD7 Gene

Additional Disease Information for COMMD7

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

No disorders were found for COMMD7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COMMD7 Gene

Publications for COMMD7 Gene

  1. COMMD proteins, a novel family of structural and functional homologs of MURR1. (PMID: 15799966) Burstein E … Duckett CS (The Journal of biological chemistry 2005) 2 3 4 58
  2. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. (PMID: 25355947) Phillips-Krawczak CA … Burstein E (Molecular biology of the cell 2015) 3 4 58
  3. CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. (PMID: 23563313) Starokadomskyy P … Burstein E (The Journal of clinical investigation 2013) 3 4 58
  4. COMMD1 (copper metabolism MURR1 domain-containing protein 1) regulates Cullin RING ligases by preventing CAND1 (Cullin-associated Nedd8-dissociated protein 1) binding. (PMID: 21778237) Mao X … Burstein E (The Journal of biological chemistry 2011) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for COMMD7 Gene

Sources for COMMD7 Gene

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