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    JADE2 jade family PHD finger 2 [ Homo sapiens (human) ]

    Gene ID: 23338, updated on 27-Nov-2024

    Summary

    Official Symbol
    JADE2provided by HGNC
    Official Full Name
    jade family PHD finger 2provided by HGNC
    Primary source
    HGNC:HGNC:22984
    See related
    Ensembl:ENSG00000043143 MIM:610515; AllianceGenome:HGNC:22984
    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
    PHF15; JADE-2
    Summary
    Enables histone H4K12 acetyltransferase activity; histone H4K5 acetyltransferase activity; and histone H4K8 acetyltransferase activity. Contributes to histone H3K14 acetyltransferase activity. Involved in regulation of DNA biosynthetic process; regulation of DNA replication; and regulation of cell cycle. Located in nucleoplasm. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 11.1), ovary (RPKM 11.0) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See JADE2 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134523952..134583227)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135049572..135108849)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (133860006..133918917)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133841857-133842511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133844767-133845440 Neighboring gene long intergenic non-protein coding RNA 1843 Neighboring gene uncharacterized LOC124901070 Neighboring gene RNA, 7SL, cytoplasmic 541, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16363 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:133868144-133868644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133873253-133873806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133874500-133875431 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133875432-133876362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133876363-133877294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133884143-133885142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16365 Neighboring gene U7 small nuclear RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133916765-133917297 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133917298-133917829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23156 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133928109-133928702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23158 Neighboring gene secretion associated Ras related GTPase 1B Neighboring gene HNF4 motif-containing MPRA enhancer 267 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133968413-133968969 Neighboring gene RNA, U6 small nuclear 1311, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0239

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    part_of histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase Jade-2
    Names
    PHD finger protein 15
    jade family PHD finger protein 2
    NP_001276913.1
    NP_001276914.1
    NP_001295072.1
    NP_001375114.1
    NP_001375115.1
    NP_001375116.1
    NP_001375117.1
    NP_056103.4
    XP_011541593.2
    XP_024301775.1
    XP_047272980.1
    XP_047272981.1
    XP_047272982.1
    XP_047272984.1
    XP_047272985.1
    XP_047272986.1
    XP_047272987.1
    XP_047272988.1
    XP_047272989.1
    XP_047272990.1
    XP_047272991.1
    XP_047272992.1
    XP_047272993.1
    XP_047272994.1
    XP_047272995.1
    XP_054208194.1
    XP_054208195.1
    XP_054208196.1
    XP_054208197.1
    XP_054208198.1
    XP_054208199.1
    XP_054208200.1
    XP_054208201.1
    XP_054208202.1
    XP_054208203.1
    XP_054208204.1
    XP_054208205.1
    XP_054208206.1
    XP_054208207.1
    XP_054208208.1
    XP_054208209.1
    XP_054208210.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001289984.2NP_001276913.1  E3 ubiquitin-protein ligase Jade-2 isoform 1

      See identical proteins and their annotated locations for NP_001276913.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      BC021962, BN000288, DB451538
      Consensus CDS
      CCDS75305.1
      UniProtKB/TrEMBL
      A0A0C4DFT8, A8K356, A8K9C0
      Related
      ENSP00000354425.2, ENST00000361895.6
      Conserved Domains (3) summary
      cd15705
      Location:254364
      ePHD_JADE2; Extended PHD finger found in protein Jade-2 and similar proteins
      cl26386
      Location:582786
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
      cl26518
      Location:137531
      EPL1; Enhancer of polycomb-like
    2. NM_001289985.2NP_001276914.1  E3 ubiquitin-protein ligase Jade-2 isoform 2

      See identical proteins and their annotated locations for NP_001276914.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in 5' terminal exon that results in translation initiation at an alternate start codon, and it also contains an additional in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK056471, BN000288
      UniProtKB/TrEMBL
      B3KPL2, B4DFY8
      Conserved Domains (3) summary
      cd15680
      Location:217262
      PHD_JADE2; PHD finger found in protein Jade-2 and similar proteins
      cd15705
      Location:270380
      ePHD_JADE2; Extended PHD finger found in protein Jade-2 and similar proteins
      pfam10513
      Location:153191
      EPL1; Enhancer of polycomb-like
    3. NM_001308143.2NP_001295072.1  E3 ubiquitin-protein ligase Jade-2 isoform 4

      See identical proteins and their annotated locations for NP_001295072.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and contains an additional in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) is longer than isoform 1.
      Source sequence(s)
      AA781608, AC005355, AK294327, BN000288, KF510885
      Consensus CDS
      CCDS78061.1
      UniProtKB/TrEMBL
      B4DFY8, D6R9B8, G3XAA4
      Conserved Domains (4) summary
      COG5141
      Location:137506
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      PRK07764
      Location:625829
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15705
      Location:254364
      ePHD_JADE2; Extended PHD finger found in protein Jade-2 and similar proteins
      pfam10513
      Location:10175
      EPL1; Enhancer of polycomb-like
    4. NM_001388185.1NP_001375114.1  E3 ubiquitin-protein ligase Jade-2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005355, AC106763
      Consensus CDS
      CCDS78061.1
      UniProtKB/TrEMBL
      B4DFY8, D6R9B8, G3XAA4
      Related
      ENSP00000505514.1, ENST00000681547.2
      Conserved Domains (4) summary
      COG5141
      Location:137506
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      PRK07764
      Location:625829
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15705
      Location:254364
      ePHD_JADE2; Extended PHD finger found in protein Jade-2 and similar proteins
      pfam10513
      Location:10175
      EPL1; Enhancer of polycomb-like
    5. NM_001388186.1NP_001375115.1  E3 ubiquitin-protein ligase Jade-2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005355, AC106763
      Consensus CDS
      CCDS78061.1
      UniProtKB/TrEMBL
      B4DFY8, D6R9B8, G3XAA4
      Related
      ENSP00000422991.2, ENST00000512386.6
      Conserved Domains (4) summary
      COG5141
      Location:137506
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      PRK07764
      Location:625829
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15705
      Location:254364
      ePHD_JADE2; Extended PHD finger found in protein Jade-2 and similar proteins
      pfam10513
      Location:10175
      EPL1; Enhancer of polycomb-like
    6. NM_001388187.1NP_001375116.1  E3 ubiquitin-protein ligase Jade-2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005355, AC106763
      Consensus CDS
      CCDS78061.1
      UniProtKB/TrEMBL
      B4DFY8, D6R9B8, G3XAA4
      Conserved Domains (4) summary
      COG5141
      Location:137506
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      PRK07764
      Location:625829
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15705
      Location:254364
      ePHD_JADE2; Extended PHD finger found in protein Jade-2 and similar proteins
      pfam10513
      Location:10175
      EPL1; Enhancer of polycomb-like
    7. NM_001388188.1NP_001375117.1  E3 ubiquitin-protein ligase Jade-2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC005355, AC106763, KF510885
      Consensus CDS
      CCDS93782.1
      UniProtKB/TrEMBL
      A0A087X085, B4DFY8
      Conserved Domains (4) summary
      COG5141
      Location:137506
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      PRK07764
      Location:624828
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15705
      Location:254364
      ePHD_JADE2; Extended PHD finger found in protein Jade-2 and similar proteins
      pfam10513
      Location:10175
      EPL1; Enhancer of polycomb-like
    8. NM_015288.6NP_056103.4  E3 ubiquitin-protein ligase Jade-2 isoform 3

      See identical proteins and their annotated locations for NP_056103.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      BN000288
      Consensus CDS
      CCDS4176.1
      UniProtKB/Swiss-Prot
      D3DQA3, Q6IE80, Q8TEK0, Q92513, Q96GQ6, Q9NQC1
      UniProtKB/TrEMBL
      A8K356
      Related
      ENSP00000378451.1, ENST00000395003.5
      Conserved Domains (4) summary
      COG5141
      Location:137530
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      cd15680
      Location:201246
      PHD_JADE2; PHD finger found in protein Jade-2 and similar proteins
      cd15705
      Location:254364
      ePHD_JADE2; Extended PHD finger found in protein Jade-2 and similar proteins
      pfam10513
      Location:137175
      EPL1; Enhancer of polycomb-like

    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
      134523952..134583227
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417024.1XP_047272980.1  E3 ubiquitin-protein ligase Jade-2 isoform X1

      UniProtKB/TrEMBL
      D6R9B8, G3XAA4
    2. XM_011543291.4XP_011541593.2  E3 ubiquitin-protein ligase Jade-2 isoform X2

    3. XM_047417025.1XP_047272981.1  E3 ubiquitin-protein ligase Jade-2 isoform X3

    4. XM_047417036.1XP_047272992.1  E3 ubiquitin-protein ligase Jade-2 isoform X12

      UniProtKB/TrEMBL
      A0A0C4DFT8
    5. XM_047417038.1XP_047272994.1  E3 ubiquitin-protein ligase Jade-2 isoform X13

      UniProtKB/Swiss-Prot
      D3DQA3, Q6IE80, Q8TEK0, Q92513, Q96GQ6, Q9NQC1
    6. XM_047417028.1XP_047272984.1  E3 ubiquitin-protein ligase Jade-2 isoform X5

    7. XM_047417032.1XP_047272988.1  E3 ubiquitin-protein ligase Jade-2 isoform X9

    8. XM_047417034.1XP_047272990.1  E3 ubiquitin-protein ligase Jade-2 isoform X11

    9. XM_047417030.1XP_047272986.1  E3 ubiquitin-protein ligase Jade-2 isoform X7

      UniProtKB/TrEMBL
      A0A087X085
      Related
      ENSP00000483173.2, ENST00000612830.2
    10. XM_047417035.1XP_047272991.1  E3 ubiquitin-protein ligase Jade-2 isoform X12

      UniProtKB/TrEMBL
      A0A0C4DFT8
    11. XM_047417031.1XP_047272987.1  E3 ubiquitin-protein ligase Jade-2 isoform X7

      UniProtKB/TrEMBL
      A0A087X085
    12. XM_047417037.1XP_047272993.1  E3 ubiquitin-protein ligase Jade-2 isoform X12

      UniProtKB/TrEMBL
      A0A0C4DFT8
    13. XM_047417039.1XP_047272995.1  E3 ubiquitin-protein ligase Jade-2 isoform X13

      UniProtKB/Swiss-Prot
      D3DQA3, Q6IE80, Q8TEK0, Q92513, Q96GQ6, Q9NQC1
    14. XM_047417026.1XP_047272982.1  E3 ubiquitin-protein ligase Jade-2 isoform X4

    15. XM_047417029.1XP_047272985.1  E3 ubiquitin-protein ligase Jade-2 isoform X6

    16. XM_047417033.1XP_047272989.1  E3 ubiquitin-protein ligase Jade-2 isoform X10

    17. XM_024446007.2XP_024301775.1  E3 ubiquitin-protein ligase Jade-2 isoform X8

      UniProtKB/TrEMBL
      B4DFY8
      Conserved Domains (3) summary
      cd15705
      Location:248358
      ePHD_JADE2; Extended PHD finger found in protein Jade-2 and similar proteins
      cl26386
      Location:619823
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
      cl26518
      Location:131500
      EPL1; Enhancer of polycomb-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      135049572..135108849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352219.1XP_054208194.1  E3 ubiquitin-protein ligase Jade-2 isoform X1

      UniProtKB/TrEMBL
      D6R9B8, G3XAA4
    2. XM_054352220.1XP_054208195.1  E3 ubiquitin-protein ligase Jade-2 isoform X2

    3. XM_054352221.1XP_054208196.1  E3 ubiquitin-protein ligase Jade-2 isoform X3

    4. XM_054352232.1XP_054208207.1  E3 ubiquitin-protein ligase Jade-2 isoform X12

      UniProtKB/TrEMBL
      A0A0C4DFT8
    5. XM_054352234.1XP_054208209.1  E3 ubiquitin-protein ligase Jade-2 isoform X13

      UniProtKB/Swiss-Prot
      D3DQA3, Q6IE80, Q8TEK0, Q92513, Q96GQ6, Q9NQC1
    6. XM_054352223.1XP_054208198.1  E3 ubiquitin-protein ligase Jade-2 isoform X5

    7. XM_054352228.1XP_054208203.1  E3 ubiquitin-protein ligase Jade-2 isoform X9

    8. XM_054352230.1XP_054208205.1  E3 ubiquitin-protein ligase Jade-2 isoform X11

    9. XM_054352225.1XP_054208200.1  E3 ubiquitin-protein ligase Jade-2 isoform X7

      UniProtKB/TrEMBL
      A0A087X085
    10. XM_054352231.1XP_054208206.1  E3 ubiquitin-protein ligase Jade-2 isoform X12

      UniProtKB/TrEMBL
      A0A0C4DFT8
    11. XM_054352226.1XP_054208201.1  E3 ubiquitin-protein ligase Jade-2 isoform X7

      UniProtKB/TrEMBL
      A0A087X085
    12. XM_054352233.1XP_054208208.1  E3 ubiquitin-protein ligase Jade-2 isoform X12

      UniProtKB/TrEMBL
      A0A0C4DFT8
    13. XM_054352235.1XP_054208210.1  E3 ubiquitin-protein ligase Jade-2 isoform X13

      UniProtKB/Swiss-Prot
      D3DQA3, Q6IE80, Q8TEK0, Q92513, Q96GQ6, Q9NQC1
    14. XM_054352222.1XP_054208197.1  E3 ubiquitin-protein ligase Jade-2 isoform X4

    15. XM_054352224.1XP_054208199.1  E3 ubiquitin-protein ligase Jade-2 isoform X6

    16. XM_054352229.1XP_054208204.1  E3 ubiquitin-protein ligase Jade-2 isoform X10

    17. XM_054352227.1XP_054208202.1  E3 ubiquitin-protein ligase Jade-2 isoform X8