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JMJD7 Gene

protein-coding   GIFtS: 39
GCID: GC15P042121

Jumonji Domain Containing 7

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disease database 

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Jumonji Domain Containing 71 2
Jumonji Domain-Containing Protein 72 3
JmjC Domain-Containing Protein 72

External Ids:    HGNC: 343971   Entrez Gene: 1001370472   Ensembl: ENSG000002437897   UniProtKB: P0C8703   

Export aliases for JMJD7 gene to outside databases

Previous GC identifers: GC15U900840 GC15P039909 GC15P018969


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for JMJD7 Gene:
This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme
superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also
express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene,
some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2,
group IVB protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for JMJD7 Gene:
JMJD7 (jumonji domain containing 7) is a protein-coding gene.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the JMJD7 gene promoter:
         NRSF form 1   AP-2gamma   NRSF form 2   c-Ets-1   GATA-1   STAT3   SEF-1 (1)   c-Myb   Msx-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for JMJD7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JMJD7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15.1   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q15.1

JMJD7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JMJD7 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P042121:  view genomic region     (about GC identifiers)

Start:
42,120,283 bp from pter      End:
42,129,785 bp from pter
Size:
9,503 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: JMJD7_HUMAN, P0C870 (See protein sequence)
Recommended Name: JmjC domain-containing protein 7  
Size: 316 amino acids; 35932 Da
Caution: This sequence was first thought to be an alternatively spliced isoform of PLA2G4B. It is derived from
JMJD7 which is located upstream of PLA2G4B. Most tissues also express read-through transcripts from JMJD7 into
the downstream PLA2G4B gene, some of which may encode fusion proteins combining the N-terminus of this protein
with PLA2G4B protein
Secondary accessions: A5D6V5 O95712 Q59GF9 Q8TB10 Q9UKV7

Explore the universe of human proteins at neXtProt for JMJD7: NX_P0C870

Explore proteomics data for JMJD7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See JMJD7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001108104.1  
    ENSEMBL proteins: 
     ENSP00000380467   ENSP00000384174   ENSP00000399600  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003347 JmjC_dom

    Graphical View of Domain Structure for InterPro Entry P0C870

    ProtoNet protein and cluster: P0C870

    UniProtKB/Swiss-Prot: JMJD7_HUMAN, P0C870
    Similarity: Contains 1 JmjC domain


    Find genes that share domains with JMJD7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with JMJD7           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for JMJD7

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome5
    extracellular5
    mitochondrion5
    nucleus2
    peroxisome1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for JMJD7
    Interactions:

        Search GeneGlobe Interaction Network for JMJD7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for JMJD7 (P0C8703 ENSP000003804674) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SHBGP042783I2D: score=1 
    CCDC42ENSP000002938454STRING: ENSP00000293845
    ECHS1ENSP000003575354STRING: ENSP00000357535
    DYNLT1ENSP000003560564STRING: ENSP00000356056
    RPA2ENSP000003630214STRING: ENSP00000363021
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for JMJD7



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for JMJD7 gene: 
    NM_001114632.1  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397299(uc001zop.1) ENST00000408047(uc001zom.2) ENST00000431823
    ENST00000405106(uc010bcm.1) ENST00000562035 ENST00000478178
    miRNA
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    hsa-miR-644 hsa-miR-147 hsa-miR-1912 hsa-miR-221* hsa-miR-661 hsa-miR-3622b-3p hsa-miR-508-5p hsa-miR-3116
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    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat JMJD7

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    JMJD7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    JMJD7 Expression
    About this image


    JMJD7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Neural Tube (Nervous System)
             Telencephalon
    JMJD7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JMJD7 Protein Expression
        Custom PCR Arrays for JMJD7
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JMJD7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for JMJD7 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jmjd71 , 5 jumonji domain containing 71, 5 85.23(n)1
    89.87(a)1
      2 (60.09 cM)5
    4334661  NM_001114637.11  NP_001108109.11 
     1200274835 
    chicken
    (Gallus gallus)
    Aves JMJD71 jumonji domain containing 7 65.92(n)
    70.51(a)
      423221  NM_001114659.1  NP_001108131.1 
    lizard
    (Anolis carolinensis)
    Reptilia JMJD76
    jumonji domain containing 7
    70(a)
    1 ↔ 1
    1(40852223-40866052)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia jmjd71 jumonji domain containing 7 65.38(n)
    67.85(a)
      496732  NM_001011279.1  NP_001011279.1 
    zebrafish
    (Danio rerio)
    Actinopterygii jmjd71 jumonji domain containing 7 66.67(n)
    65.7(a)
      550278  NM_001017615.1  NP_001017615.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101331 CG10133 53.79(n)
    46.9(a)
      39514  NM_140394.2  NP_648651.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G458801 AT3G45880 49.51(n)
    42.3(a)
      823731  NM_114457.2  NP_190174.2 
    rice
    (Oryza sativa)
    Liliopsida Os09g04836001 Os09g0483600 56.82(n)
    47.69(a)
      4347413  NM_001070046.1  NP_001063511.1 


    ENSEMBL Gene Tree for JMJD7 (if available)
    TreeFam Gene Tree for JMJD7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for JMJD7 gene
    1 SIMAP similar gene for JMJD7 using alignment to 3 protein entries:     JMJD7_HUMAN (see all proteins):
    JMJD7-PLA2G4B

    Find genes that share paralogs with JMJD7           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    2 SNPs for JMJD7    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693924
    ----see VAR_0693922 M V mis40--------
    rs71747101,2,4
    ----see VAR_0270462 mis40--------

    HapMap Linkage Disequilibrium report for JMJD7 (42120283 - 42129785 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for JMJD7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1506CNV Insertion18451855
    nsv904115CNV Loss21882294
    nsv517631CNV Loss19592680
    dgv2365n71CNV Loss21882294
    dgv2364n71CNV Loss21882294
    nsv904119CNV Loss21882294
    nsv904116CNV Loss21882294
    nsv9244CNV Gain18304495
    dgv740e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with JMJD7           About GenesLikeMe

    Genetic Association Database (GAD): JMJD7
    Human Genome Epidemiology (HuGE) Navigator: JMJD7 (3 documents)

    Export disorders for JMJD7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for JMJD7 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with JMJD7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (N. Engl. J. Med. 2012)
    4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. Identification of the expressed form of human cytosolic phospholipase A2beta (cPLA2beta): cPLA2beta3 is a novel variant localized to mitochondria and early endosomes. (PubMed id 16617059)1 Ghosh M.... Leslie C.C. (J. Biol. Chem. 2006)
    7. Methylation: lost in hydroxylation? (PubMed id 15809658)1 Trewick S.C....Allshire R.C. (EMBO Rep. 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 100137047 HGNC: 34397 Ensembl:ENSG00000243789 euGenes: HUgn100137047 ECgene: JMJD7
    H-InvDB: JMJD7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for JMJD7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for JMJD7 gene:
    Search GeneIP for patents involving JMJD7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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