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    JMJD8 jumonji domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 339123, updated on 10-Dec-2024

    Summary

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    Official Symbol
    JMJD8provided by HGNC
    Official Full Name
    jumonji domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:14148
    See related
    Ensembl:ENSG00000161999 AllianceGenome:HGNC:14148
    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
    PP14397; C16orf20
    Summary
    Involved in several processes, including positive regulation of canonical NF-kappaB signal transduction; positive regulation of sprouting angiogenesis; and regulation of pyruvate kinase activity. Located in endoplasmic reticulum lumen and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 36.7), kidney (RPKM 34.2) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See JMJD8 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (681670..684334, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (685745..688409, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (731670..734334, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6938 Neighboring gene rhomboid like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6939 Neighboring gene STUB1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:731189-731776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:731777-732364 Neighboring gene STIP1 homology and U-box containing protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10212 Neighboring gene WD repeat domain 24 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:740279-740826 Neighboring gene F-box and leucine rich repeat protein 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10214 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:750057-750886

    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. JMJD8 Is an M2 Macrophage Biomarker, and It Associates With DNA Damage Repair to Facilitate Stemness Maintenance, Chemoresistance, and Immunosuppression in Pan-Cancer. Liang X, et al. Front Immunol, 2022. PMID 35898493, Free PMC Article
    2. JmjC domain-containing protein 8 (JMJD8) represses Ku70/Ku80 expression via attenuating AKT/NF-κB/COX-2 signaling. Su Y, et al. Biochim Biophys Acta Mol Cell Res, 2019 Dec. PMID 31473257
    3. ER-localized JmjC domain-containing protein JMJD8 targets STING to promote immune evasion and tumor growth in breast cancer. Yi J, et al. Dev Cell, 2023 May 8. PMID 37054705
    4. JMJD8 is a positive regulator of TNF-induced NF-κB signaling. Yeo KS, et al. Sci Rep, 2016 Sep 27. PMID 27671354, Free PMC Article
    5. JMJD8 is a novel endoplasmic reticulum protein with a JmjC domain. Yeo KS, et al. Sci Rep, 2017 Nov 13. PMID 29133832, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. USP22-JMJD8 axis promotes Lenvatinib resistance in hepatocellular carcinoma.
      Title: USP22-JMJD8 axis promotes Lenvatinib resistance in hepatocellular carcinoma.
    2. ER-localized JmjC domain-containing protein JMJD8 targets STING to promote immune evasion and tumor growth in breast cancer.
      Title: ER-localized JmjC domain-containing protein JMJD8 targets STING to promote immune evasion and tumor growth in breast cancer.
    3. JMJD8 Is an M2 Macrophage Biomarker, and It Associates With DNA Damage Repair to Facilitate Stemness Maintenance, Chemoresistance, and Immunosuppression in Pan-Cancer.
      Title: JMJD8 Is an M2 Macrophage Biomarker, and It Associates With DNA Damage Repair to Facilitate Stemness Maintenance, Chemoresistance, and Immunosuppression in Pan-Cancer.
    4. Aberrant JmjC domain-containing protein 8 (JMJD8) expression promotes activation of AKT and tumor epithelial-mesenchymal transition.
      Title: Aberrant JmjC domain-containing protein 8 (JMJD8) expression promotes activation of AKT and tumor epithelial-mesenchymal transition.
    5. The research provided data to establish the role of JMJD8 in regulating tumor cell proliferation and their sensitivity to ionizing irradiation or chemo-therapy drug, and the AKT/NF-kappaB/COX-2 signaling mediated expression of Ku70/Ku80 was involved.
      Title: JmjC domain-containing protein 8 (JMJD8) represses Ku70/Ku80 expression via attenuating AKT/NF-κB/COX-2 signaling.
    6. Study demonstrated that JMJD8 is the first JmjC domain-containing protein found in the lumen of the endoplasmic reticulum that may function in protein complex assembly and protein folding.
      Title: JMJD8 is a novel endoplasmic reticulum protein with a JmjC domain.
    7. Jmjd8 is upregulated during endothelial differentiation and regulates endothelial sprouting and metabolism by interacting with pyruvate kinase M2.
      Title: JMJD8 Regulates Angiogenic Sprouting and Cellular Metabolism by Interacting With Pyruvate Kinase M2 in Endothelial Cells.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cis-regulatory region sequence-specific DNA 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 positive regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of pyruvate kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    jmjC domain-containing protein 8
    Names
    jumonji 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_001005920.4 → NP_001005920.3  jmjC domain-containing protein 8 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      Z92544
      Consensus CDS
      CCDS45369.2
      UniProtKB/Swiss-Prot
      B2RNS7, D3DU58, Q4PKE3, Q4VBY1, Q6GMW5, Q71RB8, Q96S16
      Related
      ENSP00000477481.1, ENST00000609261.6
      Conserved Domains (1) summary
      cl21464
      Location:54 → 248
      cupin_like; Conserved domain found in cupin and related proteins

    2. NM_001323918.3 → NP_001310847.2  jmjC domain-containing protein 8 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AI370749, BC137100, BX335015, HY073770, Z92544
      Conserved Domains (1) summary
      cl21464
      Location:54 → 240
      cupin_like; Conserved domain found in cupin and related proteins

    3. NM_001323919.3 → NP_001310848.2  jmjC domain-containing protein 8 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AI370749, BC137100, BG481039, Z92544
      Consensus CDS
      CCDS92075.1
      UniProtKB/TrEMBL
      H3BVG3
      Related
      ENSP00000458106.1, ENST00000562111.1

    4. NM_001323920.3 → NP_001310849.2  jmjC domain-containing protein 8 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AI370749, BI767435, Z92544
      Consensus CDS
      CCDS92074.1
      Related
      ENSP00000454358.1, ENST00000562824.5
      Conserved Domains (1) summary
      cl40423
      Location:34 → 218
      cupin_RmlC-like; RmlC-like cupin superfamily

    5. NM_001323922.3 → NP_001310851.2  jmjC domain-containing protein 8 isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AI370749, BC137101, BG423721, CN371155, HY023676, HY073770, Z92544
      Conserved Domains (1) summary
      cl21464
      Location:34 → 210
      cupin_like; Conserved domain found in cupin and related proteins

    RNA

    1. NR_136650.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF370420, AI370749, AL524336, HY073770, Z92544
      Related
      ENST00000568689.5

    2. NR_136651.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AI370749, AL524922, CD674105, Z92544

    3. NR_136652.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AI370749, BC137100, BG284477, BG826580, HY073770, Z92544

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      681670..684334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      685745..688409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96S16.2 GenPept UniProtKB/Swiss-Prot:Q96S16

    Gene LinkOut

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

    Chemical Information
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