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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
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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

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