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

Gene ID: 339123, updated on 5-Mar-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 I-kappaB kinase/NF-kappaB signaling; positive regulation of sprouting angiogenesis; and regulation of glycolytic process. Located in endoplasmic reticulum lumen and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
16p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (681670..684334, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (685745..688409, complement)
105.20220307 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: 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. 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. Aberrant JmjC domain-containing protein 8 (JMJD8) expression promotes activation of AKT and tumor epithelial-mesenchymal transition. Su Y, et al. Oncogene, 2020 Oct. PMID 32879443
  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 (21) 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)

Genotypes

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 
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
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
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 
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_2023_10

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.

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