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Aliases for COMMD9 Gene

Aliases for COMMD9 Gene

  • COMM Domain Containing 9 2 3 5
  • COMM Domain-Containing Protein 9 3
  • LINC00610 3
  • C11orf55 3
  • HSPC166 3

External Ids for COMMD9 Gene

Previous GeneCards Identifiers for COMMD9 Gene

  • GC11M036260
  • GC11M036251
  • GC11M035993

Summaries for COMMD9 Gene

GeneCards Summary for COMMD9 Gene

COMMD9 (COMM Domain Containing 9) is a Protein Coding gene. Among its related pathways are Innate Immune System.

UniProtKB/Swiss-Prot for COMMD9 Gene

  • May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203).

Gene Wiki entry for COMMD9 Gene

Additional gene information for COMMD9 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COMMD9 Gene

Genomics for COMMD9 Gene

Regulatory Elements for COMMD9 Gene

Enhancers for COMMD9 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
GH11H035617 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +668.4 668405 7 SIN3A FEZF1 GLI4 ZNF2 ZNF121 GLIS2 FOS SP3 REST SNIP1 TRAF6 TRIM44 COMMD9 FJX1 PAMR1 ENSG00000254686
GH11H036360 1.2 Ensembl ENCODE dbSUPER 11.3 -73.2 -73241 4 TBP KLF1 JUN TSC22D4 ZMYM3 BATF POLR2A RCOR1 ETV6 RUNX3 PRR5L ENSG00000255060 COMMD9 PIR61917 GC11P036377
GH11H036384 1.2 FANTOM5 ENCODE dbSUPER 10.3 -96.0 -95972 1 OSR2 KLF1 GATA3 FOS ATF7 RUNX3 SP7 FOXA1 ENSG00000255060 COMMD9 TRAF6 PRR5L ENSG00000255186 GC11P036377
GH11H036288 1.1 ENCODE 11.2 +0.2 180 1 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 ZNF143 COMMD9 TRAF6 ENSG00000255060 GC11M036246
GH11H035661 1.2 ENCODE 9.7 +626.5 626545 2 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 TRAF6 ENSG00000251194 CD44-AS1 COMMD9 TRIM44 GC11M035597
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COMMD9 on UCSC Golden Path with GeneCards custom track

Promoters for COMMD9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039009 249 1600 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 ZNF143

Genomic Location for COMMD9 Gene

Chromosome:
11
Start:
36,269,284 bp from pter
End:
36,289,449 bp from pter
Size:
20,166 bases
Orientation:
Minus strand

Genomic View for COMMD9 Gene

Genes around COMMD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COMMD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COMMD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COMMD9 Gene

Proteins for COMMD9 Gene

  • Protein details for COMMD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P000-COMD9_HUMAN
    Recommended name:
    COMM domain-containing protein 9
    Protein Accession:
    Q9P000
    Secondary Accessions:
    • E9PAN2
    • Q96FI2
    • Q9H0R0

    Protein attributes for COMMD9 Gene

    Size:
    198 amino acids
    Molecular mass:
    21819 Da
    Quaternary structure:
    • Interacts with RELB and NFKB1/p105. Interacts with CCDC22, CCDC93, SCNN1B, CUL1.

    Three dimensional structures from OCA and Proteopedia for COMMD9 Gene

    Alternative splice isoforms for COMMD9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COMMD9 Gene

Post-translational modifications for COMMD9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COMMD9 Gene

No data available for DME Specific Peptides for COMMD9 Gene

Domains & Families for COMMD9 Gene

Gene Families for COMMD9 Gene

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

Protein Domains for COMMD9 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COMMD9: view

No data available for UniProtKB/Swiss-Prot for COMMD9 Gene

Function for COMMD9 Gene

Molecular function for COMMD9 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). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203).

Phenotypes From GWAS Catalog for COMMD9 Gene

Gene Ontology (GO) - Molecular Function for COMMD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21778237
genes like me logo Genes that share ontologies with COMMD9: view
genes like me logo Genes that share phenotypes with COMMD9: view

Animal Models for COMMD9 Gene

MGI Knock Outs for COMMD9:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COMMD9
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COMMD9 Gene

Localization for COMMD9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COMMD9 Gene

Nucleus. 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 COMMD9 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
golgi apparatus 5
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COMMD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with COMMD9: view

Pathways & Interactions for COMMD9 Gene

genes like me logo Genes that share pathways with COMMD9: view

Pathways by source for COMMD9 Gene

3 Reactome pathways for COMMD9 Gene

Gene Ontology (GO) - Biological Process for COMMD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
genes like me logo Genes that share ontologies with COMMD9: view

No data available for SIGNOR curated interactions for COMMD9 Gene

Drugs & Compounds for COMMD9 Gene

No Compound Related Data Available

Transcripts for COMMD9 Gene

Unigene Clusters for COMMD9 Gene

COMM domain containing 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COMMD9
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for COMMD9 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c
SP1: - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - -
SP7:
SP8:
SP9: - - - - - - - -

Relevant External Links for COMMD9 Gene

GeneLoc Exon Structure for
COMMD9
ECgene alternative splicing isoforms for
COMMD9

Expression for COMMD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COMMD9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COMMD9 Gene



Protein tissue co-expression partners for COMMD9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COMMD9 Gene:

COMMD9

SOURCE GeneReport for Unigene cluster for COMMD9 Gene:

Hs.279836

mRNA Expression by UniProt/SwissProt for COMMD9 Gene:

Q9P000-COMD9_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for COMMD9 Gene

  • Nervous system(4.7)
  • Skin(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with COMMD9: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COMMD9 Gene

Orthologs for COMMD9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COMMD9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COMMD9 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia COMMD9 33 34
  • 89.73 (n)
rat
(Rattus norvegicus)
Mammalia Commd9 33
  • 88.72 (n)
cow
(Bos Taurus)
Mammalia COMMD9 33 34
  • 87.71 (n)
mouse
(Mus musculus)
Mammalia Commd9 33 16 34
  • 86.36 (n)
oppossum
(Monodelphis domestica)
Mammalia COMMD9 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COMMD9 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves COMMD9 33 34
  • 68.87 (n)
lizard
(Anolis carolinensis)
Reptilia COMMD9 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia commd9 33
  • 64.81 (n)
Str.100 33
zebrafish
(Danio rerio)
Actinopterygii commd9 33 34
  • 61.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToOne
Species where no ortholog for COMMD9 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COMMD9 Gene

ENSEMBL:
Gene Tree for COMMD9 (if available)
TreeFam:
Gene Tree for COMMD9 (if available)

Paralogs for COMMD9 Gene

No data available for Paralogs for COMMD9 Gene

Variants for COMMD9 Gene

Sequence variations from dbSNP and Humsavar for COMMD9 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000030753 -- 36,289,991(+) CATAG(G/T)CATAG upstream-variant-2KB
rs1000092366 -- 36,283,366(+) AAATA(C/T)AATAT intron-variant
rs1000383354 -- 36,280,332(+) CCCCT(C/T)AGGAA intron-variant
rs1000447611 -- 36,287,792(+) CATAG(A/T)GGTTA intron-variant
rs1000552918 -- 36,273,761(+) ATTGC(A/G)CCTGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for COMMD9 Gene

Variant ID Type Subtype PubMed ID
esv1531905 CNV insertion 17803354
esv2422305 CNV duplication 17116639
esv2744346 CNV deletion 23290073
esv2744347 CNV deletion 23290073
nsv1042014 CNV loss 25217958
nsv467791 CNV gain 19166990
nsv513312 CNV insertion 21212237
nsv554003 CNV gain 21841781
nsv957870 CNV deletion 24416366

Variation tolerance for COMMD9 Gene

Residual Variation Intolerance Score: 73.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.59; 30.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COMMD9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COMMD9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COMMD9 Gene

Disorders for COMMD9 Gene

Relevant External Links for COMMD9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COMMD9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COMMD9

No disorders were found for COMMD9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COMMD9 Gene

Publications for COMMD9 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 60
  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 60
  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 60
  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 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for COMMD9 Gene

Sources for COMMD9 Gene

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