Aliases for COMMD9 Gene

Aliases for COMMD9 Gene

  • COMM Domain Containing 9 2 3 5
  • COMM Domain-Containing Protein 9 3 4
  • 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 Summary 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 , Rfam classification and piRNA Summary for COMMD9 Gene

Genomics for COMMD9 Gene

GeneHancer (GH) Regulatory Elements for COMMD9 Gene

Promoters and enhancers for COMMD9 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J036288 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 761.1 +0.4 448 2.4 SIN3A ZBTB40 SREBF1 SIX5 SMARCE1 RBPJ POLR2A USF2 HDAC2 ATF1 COMMD9 TRAF6 SLC1A2 ENSG00000255542 ENSG00000255060 lnc-TRAF6-17
GH11J036384 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -99.7 -99652 9.8 ZNF652 SP7 ZNF680 ZNF10 OSR2 RUNX3 IKZF1 FOS CTCF BATF PRR5L ENSG00000255060 COMMD9 FJX1 TRAF6 ENSG00000255186 lnc-RAG1-5 piR-36756-017
GH11J036360 Promoter/Enhancer 1.1 Ensembl ENCODE dbSUPER 11.3 -73.2 -73241 4.7 POLR2A ETV6 TEAD4 MAFK CREM CEBPB JUN RCOR1 EP300 RUNX3 PRR5L ENSG00000255060 COMMD9 piR-38872-001 lnc-RAG1-5
GH11J036507 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.8 -221.0 -221015 5.2 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF RBPJ POLR2A HCFC1 CC2D1A TRAF6 ENSG00000280331 RAG1 lnc-RAG1-1 PRR5L COMMD9
GH11J036469 Enhancer 0.8 Ensembl ENCODE 10.9 -180.9 -180881 2.5 SP7 ZSCAN21 ZNF639 ZEB2 ZNF629 CTCF SCRT2 ZNF10 EP300 OSR2 PRR5L ENSG00000255060 TRAF6 RAG1 COMMD9 lnc-TRAF6-2 lnc-TRAF6-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COMMD9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COMMD9 gene promoter:
  • AREB6
  • CUTL1
  • E47
  • FOXO3
  • FOXO3a
  • FOXO3b
  • GR
  • GR-alpha
  • GR-beta
  • Hand1

Genomic Locations for COMMD9 Gene

Genomic Locations for COMMD9 Gene
20,166 bases
Minus strand
17,158 bases
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:
    Recommended name:
    COMM domain-containing protein 9
    Protein Accession:
    Secondary Accessions:
    • E9PAN2
    • Q96FI2
    • Q9H0R0

    Protein attributes for COMMD9 Gene

    198 amino acids
    Molecular mass:
    21819 Da
    Quaternary structure:
    • Interacts with RELB and NFKB1/p105 (PubMed:15799966). Interacts with CCDC22, CCDC93, SCNN1B, CUL1 (PubMed:21778237, PubMed:23563313, PubMed:23637203, PubMed:25355947, PubMed:28892079).

    Three dimensional structures from OCA and Proteopedia for COMMD9 Gene

    Alternative splice isoforms for COMMD9 Gene


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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for COMMD9 Gene


Suggested Antigen Peptide Sequences for COMMD9 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51530, highly similar to COMM domain-containing protein 9 (B4DQW0_HUMAN)
  • COMM domain-containing protein 9 (COMD9_HUMAN)
  • cDNA, FLJ95283, highly similar to Homo sapiens COMM domain containing 9 (COMMD9), mRNA (Q53FR9_HUMAN)
genes like me logo Genes that share domains with COMMD9: view

No data available for Graphical View of Domain Structure and 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:
  • Commd9 Commd9<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

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

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 4
nucleus 4
cytosol 4
golgi apparatus 4
endosome 1
lysosome 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

PathCards logo

SuperPathways 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:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0042632 cholesterol homeostasis IEA --
GO:0043312 neutrophil degranulation TAS --
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

CRISPR Products

Clone Products

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: - -
SP9: - - - - - - - -

Relevant External Links for COMMD9 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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, 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:


SOURCE GeneReport for Unigene cluster for COMMD9 Gene:


mRNA Expression by UniProt/SwissProt for COMMD9 Gene:

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

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
(Pan troglodytes)
Mammalia COMMD9 33 32
  • 99.49 (n)
(Canis familiaris)
Mammalia COMMD9 33 32
  • 89.73 (n)
(Rattus norvegicus)
Mammalia Commd9 32
  • 88.72 (n)
(Bos Taurus)
Mammalia COMMD9 33 32
  • 87.71 (n)
(Mus musculus)
Mammalia Commd9 17 33 32
  • 86.36 (n)
(Monodelphis domestica)
Mammalia COMMD9 33
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia COMMD9 33
  • 77 (a)
(Gallus gallus)
Aves COMMD9 33 32
  • 68.87 (n)
(Anolis carolinensis)
Reptilia COMMD9 33
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia commd9 32
  • 64.81 (n)
Str.100 32
(Danio rerio)
Actinopterygii commd9 33 32
  • 61.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 31 (a)
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

Gene Tree for COMMD9 (if available)
Gene Tree for COMMD9 (if available)
Evolutionary constrained regions (ECRs) for COMMD9: view image

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 Variation AA Info Type
rs1000030753 -- 36,289,991(-) T/G upstream_transcript_variant
rs1000092366 -- 36,283,366(-) T/C intron_variant
rs1000383354 -- 36,280,332(-) C/T intron_variant
rs1000447611 -- 36,287,792(-) A/T intron_variant
rs1000552918 -- 36,273,761(-) G/A 3_prime_UTR_variant

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)

Additional Variant Information for COMMD9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for COMMD9 Gene

Additional Disease Information for 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 56
  2. Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling. (PMID: 28892079) McNally KE … Cullen PJ (Nature cell biology 2017) 3 4 56
  3. 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 56
  4. 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 56
  5. 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 56

Products for COMMD9 Gene

Sources for COMMD9 Gene