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    COMMD8 COMM domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 54951, updated on 10-Dec-2024

    Summary

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    Official Symbol
    COMMD8provided by HGNC
    Official Full Name
    COMM domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:26036
    See related
    Ensembl:ENSG00000169019 MIM:616656; AllianceGenome:HGNC:26036
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by this gene binds coiled-coil domain-containing protein 22 (CCDC22), and this complex can regulate the turnover of I-kappa-B and the activation of NF-kappa-B. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 8.5), testis (RPKM 8.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COMMD8 in Genome Data Viewer
    Location:
    4p12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (47450787..47463702, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (47418136..47431052, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (47452804..47465719, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha4 Neighboring gene Sharpr-MPRA regulatory region 8016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21529 Neighboring gene gamma-aminobutyric acid type A receptor subunit beta1 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:47379937-47380444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15398 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:47416165-47416745 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:47432124-47432333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15399 Neighboring gene uncharacterized LOC107986277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21530 Neighboring gene Sharpr-MPRA regulatory region 5912 Neighboring gene ribosomal protein L21 pseudogene 52 Neighboring gene ATPase phospholipid transporting 10D (putative)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Long non-coding RNA MNX1-AS1 promotes hepatocellular carcinoma proliferation and invasion through targeting miR-218-5p/COMMD8 axis. Ji D, et al. Biochem Biophys Res Commun, 2019 Jun 4. PMID 30982576
    2. Long noncoding RNA LINC00657 induced by SP1 contributes to the non-small cell lung cancer progression through targeting miR-26b-5p/COMMD8 axis. Zhang R, et al. J Cell Physiol, 2020 Apr. PMID 31566716
    3. The COMMD3/8 complex determines GRK6 specificity for chemoattractant receptors. Nakai A, et al. J Exp Med, 2019 Jul 1. PMID 31088898, Free PMC Article
    4. COMMD proteins, a novel family of structural and functional homologs of MURR1. Burstein E, et al. J Biol Chem, 2005 Jun 10. PMID 15799966
    5. Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome. Healy MD, et al. Cell, 2023 May 11. PMID 37172566, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long noncoding RNA LINC00657 induced by SP1 contributes to the non-small cell lung cancer progression through targeting miR-26b-5p/COMMD8 axis.
      Title: Long noncoding RNA LINC00657 induced by SP1 contributes to the non-small cell lung cancer progression through targeting miR-26b-5p/COMMD8 axis.
    2. complex determines GRK6 specificity for chemoattractant receptors
      Title: The COMMD3/8 complex determines GRK6 specificity for chemoattractant receptors.
    3. MNX1-AS1 promoted COMMD8 expression through sponging miR-218-5p. MNX1-AS1 promoted hepatocellular carcinoma progression through activating COMMD8.
      Title: Long non-coding RNA MNX1-AS1 promotes hepatocellular carcinoma proliferation and invasion through targeting miR-218-5p/COMMD8 axis.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20502

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NF-kappaB binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    COMM domain-containing protein 8

    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_001329668.2 → NP_001316597.1  COMM domain-containing protein 8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC107398
      UniProtKB/Swiss-Prot
      Q9NX08
      Conserved Domains (1) summary
      cd04756
      Location:7 → 180
      Commd8; COMM_Domain containing protein 8. 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 ...

    2. NM_017845.5 → NP_060315.1  COMM domain-containing protein 8 isoform 1

      See identical proteins and their annotated locations for NP_060315.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC107398
      Consensus CDS
      CCDS3475.1
      UniProtKB/Swiss-Prot
      Q8WUR4, Q9HC15, Q9NX08
      Related
      ENSP00000370984.4, ENST00000381571.6
      Conserved Domains (1) summary
      cd04756
      Location:7 → 182
      Commd8; COMM_Domain containing protein 8. 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 ...

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      47450787..47463702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      47418136..47431052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NX08.1 GenPept UniProtKB/Swiss-Prot:Q9NX08

    Gene LinkOut

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

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