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    COMMD2 COMM domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 51122, updated on 3-Nov-2024

    Summary

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    Official Symbol
    COMMD2provided by HGNC
    Official Full Name
    COMM domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:24993
    See related
    Ensembl:ENSG00000114744 MIM:616699; AllianceGenome:HGNC:24993
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSPC042
    Summary
    Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.0), lung (RPKM 6.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COMMD2 in Genome Data Viewer
    Location:
    3q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (149738472..149752489, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (152489726..152503742, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (149456259..149470276, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene WW domain containing transcription regulator 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:149369611-149370110 Neighboring gene Sharpr-MPRA regulatory region 14320 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:149375639-149376218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20682 Neighboring gene WWTR1 intronic transcript 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:149388438-149388978 Neighboring gene WWTR1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:149396068-149396569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:149431193-149431694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:149431695-149432194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14807 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:149508028-149509227 Neighboring gene RNA, U6 small nuclear 507, pseudogene Neighboring gene ankyrin repeat and ubiquitin domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 5490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:149530359-149530870 Neighboring gene MPRA-validated peak4858 silencer Neighboring gene ring finger protein 13 Neighboring gene RNA, U6 small nuclear 720, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Multi-omics analysis of the oncogenic value of copper Metabolism-Related protein COMMD2 in human cancers. Tai P, et al. Cancer Med, 2023 May. PMID 36205192, Free PMC Article
    2. COMMD proteins, a novel family of structural and functional homologs of MURR1. Burstein E, et al. J Biol Chem, 2005 Jun 10. PMID 15799966
    3. Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome. Healy MD, et al. Cell, 2023 May 11. PMID 37172566, Free PMC Article
    4. COMMD1 (copper metabolism MURR1 domain-containing protein 1) regulates Cullin RING ligases by preventing CAND1 (Cullin-associated Nedd8-dissociated protein 1) binding. Mao X, et al. J Biol Chem, 2011 Sep 16. PMID 21778237, Free PMC Article
    5. CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. Starokadomskyy P, et al. J Clin Invest, 2013 May. PMID 23563313, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Multi-omics analysis of the oncogenic value of copper Metabolism-Related protein COMMD2 in human cancers.
      Title: Multi-omics analysis of the oncogenic value of copper Metabolism-Related protein COMMD2 in human cancers.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC57611

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    COMM domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_016094.4 → NP_057178.2  COMM domain-containing protein 2

      See identical proteins and their annotated locations for NP_057178.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the supported protein.
      Source sequence(s)
      AK055223, BC001228, BC022206, BU633168, DA811158
      Consensus CDS
      CCDS3145.1
      UniProtKB/Swiss-Prot
      Q561V4, Q86X83, Q9H3L5, Q9Y5V1
      Related
      ENSP00000419475.1, ENST00000473414.6
      Conserved Domains (1) summary
      cd04750
      Location:26 → 190
      Commd2; COMM_Domain containing protein 2. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...

    RNA

    1. NR_135149.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC069216, BG700015, BU633168, CN483677

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      149738472..149752489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448244.1 → XP_047304200.1  COMM domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      F8WBW1
      Related
      ENSP00000417962.1, ENST00000491617.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      152489726..152503742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346720.1 → XP_054202695.1  COMM domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      F8WBW1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86X83.2 GenPept UniProtKB/Swiss-Prot:Q86X83

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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