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    COMMD10 COMM domain containing 10 [ Homo sapiens (human) ]

    Gene ID: 51397, updated on 26-Nov-2024

    Summary

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    Official Symbol
    COMMD10provided by HGNC
    Official Full Name
    COMM domain containing 10provided by HGNC
    Primary source
    HGNC:HGNC:30201
    See related
    Ensembl:ENSG00000145781 MIM:616704; AllianceGenome:HGNC:30201
    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
    PTD002
    Summary
    Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.4), adrenal (RPKM 1.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COMMD10 in Genome Data Viewer
    Location:
    5q23.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (116085025..116293287)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (116597411..116805723)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (115420722..115628984)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22941 Neighboring gene DEAD-box helicase 43 pseudogene 1 Neighboring gene laeverin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22942 Neighboring gene ARF like GTPase 14 effector protein like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22944 Neighboring gene Sharpr-MPRA regulatory region 6 Neighboring gene MPRA-validated peak5429 silencer Neighboring gene ribosomal protein S25 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16257 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:115527171-115527671 Neighboring gene RNA, U6 small nuclear 644, pseudogene Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 27 Neighboring gene microRNA 12130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:115696405-115697201 Neighboring gene uncharacterized LOC101927190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16258 Neighboring gene SEMA6A antisense RNA 1 Neighboring gene semaphorin 6A

    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
    • 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. Comprehensive analysis of COMMD10 as a novel prognostic biomarker for gastric cancer. Zhao W, et al. PeerJ, 2023. PMID 36919165, Free PMC Article
    2. Expression profile and bioinformatics analysis of COMMD10 in BALB/C mice and human. Fan Y, et al. Cancer Gene Ther, 2020 Apr. PMID 30787448
    3. COMMD10 inhibits HIF1α/CP loop to enhance ferroptosis and radiosensitivity by disrupting Cu-Fe balance in hepatocellular carcinoma. Yang M, et al. J Hepatol, 2022 May. PMID 35101526
    4. COMMD10 inhibits tumor progression and induces apoptosis by blocking NF-κB signal and values up BCLC staging in predicting overall survival in hepatocellular carcinoma. Yang M, et al. Clin Transl Med, 2021 May. PMID 34047468, Free PMC Article
    5. FMNL2 destabilises COMMD10 to activate NF-κB pathway in invasion and metastasis of colorectal cancer. Yang SS, et al. Br J Cancer, 2017 Oct 10. PMID 28817833, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive analysis of COMMD10 as a novel prognostic biomarker for gastric cancer.
      Title: Comprehensive analysis of COMMD10 as a novel prognostic biomarker for gastric cancer.
    2. COMMD10 inhibits HIF1alpha/CP loop to enhance ferroptosis and radiosensitivity by disrupting Cu-Fe balance in hepatocellular carcinoma.
      Title: COMMD10 inhibits HIF1α/CP loop to enhance ferroptosis and radiosensitivity by disrupting Cu-Fe balance in hepatocellular carcinoma.
    3. COMMD10 inhibits tumor progression and induces apoptosis by blocking NF-kappaB signal and values up BCLC staging in predicting overall survival in hepatocellular carcinoma.
      Title: COMMD10 inhibits tumor progression and induces apoptosis by blocking NF-κB signal and values up BCLC staging in predicting overall survival in hepatocellular carcinoma.
    4. Expression profile and bioinformatics analysis of COMMD10 in BALB/C mice and human.
      Title: Expression profile and bioinformatics analysis of COMMD10 in BALB/C mice and human.
    5. Data demonstrate that the FMNL2/COMMD10/p65 NF kappaB axis acts as a critical regulator in the maintenance of metastatic phenotypes in colorectal cancer.
      Title: FMNL2 destabilises COMMD10 to activate NF-κB pathway in invasion and metastasis of colorectal cancer.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
    EBI GWAS Catalog
    Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis.
    EBI GWAS Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    EBI GWAS Catalog

    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

    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
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    COMM domain-containing protein 10

    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_001308080.2 → NP_001295009.1  COMM domain-containing protein 10 isoform b

      See identical proteins and their annotated locations for NP_001295009.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AW662195, BC005179, BI859871, DA001572
      Consensus CDS
      CCDS78049.1
      UniProtKB/TrEMBL
      D6RJ90
      Related
      ENSP00000427319.1, ENST00000515539.5
      Conserved Domains (1) summary
      cd04758
      Location:1 → 187
      Commd10; COMM_Domain containing protein 10. 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_016144.4 → NP_057228.1  COMM domain-containing protein 10 isoform a

      See identical proteins and their annotated locations for NP_057228.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AW662195, BC005179, HY139221
      Consensus CDS
      CCDS34215.1
      UniProtKB/Swiss-Prot
      D3DT07, Q9P077, Q9Y6G5
      Related
      ENSP00000274458.4, ENST00000274458.9
      Conserved Domains (1) summary
      cd04758
      Location:15 → 201
      Commd10; COMM_Domain containing protein 10. 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_146218.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC109456, BC005179, DB300445, HY139221

    2. NR_146219.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon and an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC109456, BC005179, DB300445, HY134365

    3. NR_146220.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC109456, BC005179, DB300445, HY139221

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      116085025..116293287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      116597411..116805723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6G5.1 GenPept UniProtKB/Swiss-Prot:Q9Y6G5

    Gene LinkOut

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

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