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Aliases for COMMD8 Gene

Aliases for COMMD8 Gene

  • COMM Domain Containing 8 2 3 5

External Ids for COMMD8 Gene

Previous GeneCards Identifiers for COMMD8 Gene

  • GC04M047293
  • GC04M047147
  • GC04M046772

Summaries for COMMD8 Gene

Entrez Gene Summary for COMMD8 Gene

  • The protein encoded by this gene binds coiled-coil domain-containing protein 22 (CCDC22), and this complex can regulate the turnover of I-kappa-B and the activation of NF-kappa-B. [provided by RefSeq, Jul 2016]

GeneCards Summary for COMMD8 Gene

COMMD8 (COMM Domain Containing 8) is a Protein Coding gene.

UniProtKB/Swiss-Prot for COMMD8 Gene

  • May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COMMD8 Gene

Genomics for COMMD8 Gene

Regulatory Elements for COMMD8 Gene

Enhancers for COMMD8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F047493 1 FANTOM5 Ensembl 13.8 -29.9 -29913 0.9 TBP MTA2 SMAD5 ZBED1 CBFB JUNB BMI1 TBX21 EP300 POLR2A COMMD8 RPL21P52 GC04P047550
GH04F047498 0.9 Ensembl ENCODE 11.8 -35.9 -35937 2.8 MTA2 IKZF1 EED NBN CHD1 EBF1 TBX21 RELA YY1 COMMD8 ATP10D RPL21P52 GC04P047550
GH04F047462 1.1 ENCODE 8.6 +0.0 39 2.5 HDGF PKNOX1 ATF1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF48 YY1 COMMD8 CNGA1 ATP10D GC04M047447
GH04F047465 0.9 FANTOM5 Ensembl 6.1 -1.5 -1483 0.4 SRF MTA2 NBN JUNB CREM SPI1 COMMD8 CNGA1 LOC107986277 ATP10D
GH04F047471 0.5 FANTOM5 ENCODE 8.3 -8.2 -8233 1.6 COMMD8 LOC107986277 ATP10D
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COMMD8 on UCSC Golden Path with GeneCards custom track

Promoters for COMMD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001240480 219 1401 HDGF PKNOX1 ATF1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF48 YY1

Genomic Location for COMMD8 Gene

Chromosome:
4
Start:
47,450,793 bp from pter
End:
47,463,719 bp from pter
Size:
12,927 bases
Orientation:
Minus strand

Genomic View for COMMD8 Gene

Genes around COMMD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COMMD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COMMD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COMMD8 Gene

Proteins for COMMD8 Gene

  • Protein details for COMMD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX08-COMD8_HUMAN
    Recommended name:
    COMM domain-containing protein 8
    Protein Accession:
    Q9NX08
    Secondary Accessions:
    • Q8WUR4
    • Q9HC15

    Protein attributes for COMMD8 Gene

    Size:
    183 amino acids
    Molecular mass:
    21090 Da
    Quaternary structure:
    • Interacts (via COMM domain) with COMMD1 (via COMM domain). Interacts with RELA, RELB, NFKB1/p105. Interacts with CCDC22, CCDC93, SCNN1B, CUL1, CUL2, CUL3, CUL4A, CUL4B, CUL5.
    SequenceCaution:
    • Sequence=AAG14957.1; Type=Frameshift; Positions=11; Evidence={ECO:0000305};

neXtProt entry for COMMD8 Gene

Post-translational modifications for COMMD8 Gene

  • Ubiquitination at Lys 132
  • Modification sites at PhosphoSitePlus

Other Protein References for COMMD8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COMMD8 Gene

Domains & Families for COMMD8 Gene

Gene Families for COMMD8 Gene

Protein Domains for COMMD8 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COMMD8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NX08

UniProtKB/Swiss-Prot:

COMD8_HUMAN :
  • Contains 1 COMM domain.
Domain:
  • Contains 1 COMM domain.
genes like me logo Genes that share domains with COMMD8: view

Function for COMMD8 Gene

Molecular function for COMMD8 Gene

UniProtKB/Swiss-Prot Function:
May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966).

Gene Ontology (GO) - Molecular Function for COMMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15799966
genes like me logo Genes that share ontologies with COMMD8: view
genes like me logo Genes that share phenotypes with COMMD8: view

Animal Model Products

miRNA for COMMD8 Gene

miRTarBase miRNAs that target COMMD8

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COMMD8 Gene

Localization for COMMD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COMMD8 Gene

Cytoplasm. Nucleus.

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 COMMD8 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for COMMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with COMMD8: view

Pathways & Interactions for COMMD8 Gene

SuperPathways for COMMD8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for COMMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with COMMD8: view

No data available for Pathways by source and SIGNOR curated interactions for COMMD8 Gene

Transcripts for COMMD8 Gene

mRNA/cDNA for COMMD8 Gene

Unigene Clusters for COMMD8 Gene

COMM domain containing 8:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COMMD8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: - -
SP2: - -
SP3: - -
SP4: -
SP5:

Relevant External Links for COMMD8 Gene

GeneLoc Exon Structure for
COMMD8
ECgene alternative splicing isoforms for
COMMD8

Expression for COMMD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COMMD8 Gene

Protein differential expression in normal tissues from HIPED for COMMD8 Gene

This gene is overexpressed in Rectum (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COMMD8 Gene



Protein tissue co-expression partners for COMMD8 Gene

NURSA nuclear receptor signaling pathways regulating expression of COMMD8 Gene:

COMMD8

SOURCE GeneReport for Unigene cluster for COMMD8 Gene:

Hs.23956

mRNA Expression by UniProt/SwissProt for COMMD8 Gene:

Q9NX08-COMD8_HUMAN
Tissue specificity: Widely expressed with highest expression in thyroid.
genes like me logo Genes that share expression patterns with COMMD8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for COMMD8 Gene

Orthologs for COMMD8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COMMD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COMMD8 34 35
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia COMMD8 34 35
  • 89.25 (n)
cow
(Bos Taurus)
Mammalia COMMD8 34 35
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia Commd8 34
  • 80.69 (n)
mouse
(Mus musculus)
Mammalia Commd8 34 16 35
  • 79.05 (n)
oppossum
(Monodelphis domestica)
Mammalia COMMD8 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COMMD8 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves COMMD8 34 35
  • 71.12 (n)
lizard
(Anolis carolinensis)
Reptilia COMMD8 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia commd8 34
  • 63.75 (n)
Str.15114 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24752 34
zebrafish
(Danio rerio)
Actinopterygii commd8 34 35
  • 53.68 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9137 34
Species where no ortholog for COMMD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for COMMD8 Gene

ENSEMBL:
Gene Tree for COMMD8 (if available)
TreeFam:
Gene Tree for COMMD8 (if available)

Paralogs for COMMD8 Gene

Pseudogenes.org Pseudogenes for COMMD8 Gene

genes like me logo Genes that share paralogs with COMMD8: view

No data available for Paralogs for COMMD8 Gene

Variants for COMMD8 Gene

Sequence variations from dbSNP and Humsavar for COMMD8 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10005092 -- 47,450,383(+) TACCA(C/T)actaa downstream-variant-500B
rs10016711 -- 47,450,368(+) AGAAG(A/G)TAAAT downstream-variant-500B
rs10017614 -- 47,454,206(+) AGATA(C/T)TCATA intron-variant
rs10025348 -- 47,458,499(+) agctc(A/G)acact intron-variant
rs10028747 -- 47,456,143(+) tcagg(A/G)ggctg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COMMD8 Gene

Variant ID Type Subtype PubMed ID
nsv829923 CNV gain 17160897
nsv998919 CNV gain 25217958

Variation tolerance for COMMD8 Gene

Residual Variation Intolerance Score: 70.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COMMD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COMMD8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COMMD8 Gene

Disorders for COMMD8 Gene

Relevant External Links for COMMD8

Genetic Association Database (GAD)
COMMD8
Human Genome Epidemiology (HuGE) Navigator
COMMD8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COMMD8

No disorders were found for COMMD8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COMMD8 Gene

Publications for COMMD8 Gene

  1. COMMD proteins, a novel family of structural and functional homologs of MURR1. (PMID: 15799966) Burstein E. … Duckett C.S. (J. Biol. Chem. 2005) 2 3 4 64
  2. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. (PMID: 25355947) Phillips-Krawczak C.A. … Burstein E. (Mol. Biol. Cell 2015) 3 4 64
  3. CCDC22 deficiency in humans blunts activation of proinflammatory NF-I_B signaling. (PMID: 23563313) Starokadomskyy P. … Burstein E. (J. Clin. Invest. 2013) 3 4 64
  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. (J. Biol. Chem. 2011) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for COMMD8 Gene

Sources for COMMD8 Gene

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