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Aliases for COMMD2 Gene

Aliases for COMMD2 Gene

  • COMM Domain Containing 2 2 3 5
  • COMM Domain-Containing Protein 2 3
  • HSPC042 3

External Ids for COMMD2 Gene

Previous GeneCards Identifiers for COMMD2 Gene

  • GC03M150780
  • GC03M150941
  • GC03M149448
  • GC03M146829

Summaries for COMMD2 Gene

GeneCards Summary for COMMD2 Gene

COMMD2 (COMM Domain Containing 2) is a Protein Coding gene.

UniProtKB/Swiss-Prot for COMMD2 Gene

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

Additional gene information for COMMD2 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 COMMD2 Gene

Genomics for COMMD2 Gene

GeneHancer (GH) Regulatory Elements for COMMD2 Gene

Promoters and enhancers for COMMD2 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
GH03J149751 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 664.9 +0.2 208 1.9 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC COMMD2 WWTR1 EIF2A
GH03J150406 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 29.9 -658.8 -658818 9.6 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 ZNF610 GLIS1 NBN NR2C1 GC03M150408 TSC22D2 COMMD2 RPL32P9 LOC730021 ENSG00000241929 WWTR1 WWTR1-IT1 EIF2A NPM1P29
GH03J149811 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 16.9 -62.4 -62351 5.9 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 RNF13 PFN2 COMMD2 TSC22D2 ENSG00000242791 RNU6-720P ANKUB1
GH03J149128 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 14.2 +621.5 621497 4.4 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 SP5 HPS3 COMMD2 HLTF TM4SF18 CPHL1P GC03M149173
GH03J150598 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 12 -850.1 -850075 8.8 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF213 E2F8 MEF2D ZNF610 ZNF585B SELENOT SERP1 EIF2A RPL32P9 LOC730021 COMMD2 TSC22D2 ERICH6 ERICH6-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COMMD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COMMD2 gene promoter:
  • Pax-2a
  • Pax-2
  • SRY
  • Tal-1beta
  • E47
  • Pax-2b
  • FAC1
  • SRF (504 AA)
  • SRF
  • Lmo2

Genomic Locations for COMMD2 Gene

Genomic Locations for COMMD2 Gene
chr3:149,738,470-149,752,510
(GRCh38/hg38)
Size:
14,041 bases
Orientation:
Minus strand
chr3:149,456,257-149,470,286
(GRCh37/hg19)
Size:
14,030 bases
Orientation:
Minus strand

Genomic View for COMMD2 Gene

Genes around COMMD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COMMD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COMMD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COMMD2 Gene

Proteins for COMMD2 Gene

  • Protein details for COMMD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86X83-COMD2_HUMAN
    Recommended name:
    COMM domain-containing protein 2
    Protein Accession:
    Q86X83
    Secondary Accessions:
    • Q561V4
    • Q9H3L5
    • Q9Y5V1

    Protein attributes for COMMD2 Gene

    Size:
    199 amino acids
    Molecular mass:
    22745 Da
    Quaternary structure:
    • Interacts (via COMM domain) with COMMD1 (via COMM domain). Interacts with RELA, RELB, NFKB1/p105, NFKB2/p100. Interacts with CCDC22, CCDC93, SCNN1B, CUL3, CUL4B, CUL5, CUL7.
    SequenceCaution:
    • Sequence=AAD39913.1; Type=Frameshift; Positions=111, 160, 174, 188; Evidence={ECO:0000305};

    Alternative splice isoforms for COMMD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COMMD2 Gene

Post-translational modifications for COMMD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COMMD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COMMD2 Gene

Domains & Families for COMMD2 Gene

Gene Families for COMMD2 Gene

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

Protein Domains for COMMD2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COMMD2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COMMD2: view

No data available for UniProtKB/Swiss-Prot for COMMD2 Gene

Function for COMMD2 Gene

Molecular function for COMMD2 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).

Phenotypes From GWAS Catalog for COMMD2 Gene

Gene Ontology (GO) - Molecular Function for COMMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15799966
genes like me logo Genes that share ontologies with COMMD2: view
genes like me logo Genes that share phenotypes with COMMD2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COMMD2 Gene

Localization for COMMD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COMMD2 Gene

Cytoplasm.

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 COMMD2 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COMMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with COMMD2: view

Pathways & Interactions for COMMD2 Gene

SuperPathways for COMMD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for COMMD2 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 COMMD2: view

No data available for Pathways by source and SIGNOR curated interactions for COMMD2 Gene

Drugs & Compounds for COMMD2 Gene

No Compound Related Data Available

Transcripts for COMMD2 Gene

mRNA/cDNA for COMMD2 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(164) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COMMD2 Gene

COMM domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COMMD2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - - - -
SP6:

Relevant External Links for COMMD2 Gene

GeneLoc Exon Structure for
COMMD2
ECgene alternative splicing isoforms for
COMMD2

Expression for COMMD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COMMD2 Gene

Protein differential expression in normal tissues from HIPED for COMMD2 Gene

This gene is overexpressed in Monocytes (24.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COMMD2 Gene



Protein tissue co-expression partners for COMMD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COMMD2 Gene:

COMMD2

SOURCE GeneReport for Unigene cluster for COMMD2 Gene:

Hs.432729

mRNA Expression by UniProt/SwissProt for COMMD2 Gene:

Q86X83-COMD2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for COMMD2 Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with COMMD2: view

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 COMMD2 Gene

Orthologs for COMMD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COMMD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COMMD2 34 33
  • 99.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COMMD2 34 33
  • 90.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COMMD2 34 33
  • 90.28 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COMMD2 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Commd2 16 34 33
  • 87.27 (n)
oppossum
(Monodelphis domestica)
Mammalia COMMD2 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Commd2 33
  • 86.77 (n)
chicken
(Gallus gallus)
Aves COMMD2 34 33
  • 75.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COMMD2 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia commd2 33
  • 70.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4659 33
zebrafish
(Danio rerio)
Actinopterygii commd2 34 33
  • 68.01 (n)
OneToOne
wufb12e01 33
fruit fly
(Drosophila melanogaster)
Insecta CG7168 34
  • 28 (a)
OneToOne
Species where no ortholog for COMMD2 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for COMMD2 Gene

ENSEMBL:
Gene Tree for COMMD2 (if available)
TreeFam:
Gene Tree for COMMD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COMMD2: view image

Paralogs for COMMD2 Gene

No data available for Paralogs for COMMD2 Gene

Variants for COMMD2 Gene

Sequence variations from dbSNP and Humsavar for COMMD2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000010538 -- 149,752,851(-) A/G upstream_transcript_variant
rs1000660101 -- 149,754,237(-) C/G upstream_transcript_variant
rs1001009365 -- 149,741,153(-) T/G 3_prime_UTR_variant, non_coding_transcript_variant
rs1001162663 -- 149,748,283(-) A/C intron_variant
rs1001231191 -- 149,752,513(-) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for COMMD2 Gene

Variant ID Type Subtype PubMed ID
esv34142 CNV loss 18971310
nsv829754 CNV gain 17160897

Variation tolerance for COMMD2 Gene

Residual Variation Intolerance Score: 45.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.18; 84.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COMMD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COMMD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COMMD2 Gene

Disorders for COMMD2 Gene

Additional Disease Information for COMMD2

No disorders were found for COMMD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COMMD2 Gene

Publications for COMMD2 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. 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 58

Products for COMMD2 Gene

Sources for COMMD2 Gene

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