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

Gene ID: 23338, updated on 22-Sep-2022

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
Predicted to enable ubiquitin protein ligase activity. Involved in histone acetylation. Located in nucleoplasm. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 11.1), ovary (RPKM 11.0) and 24 other tissues See more
Orthologs
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Genomic context

See JADE2 in Genome Data Viewer
Location:
5q31.1
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134523952..134583227)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135049935..135108849)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (133860006..133918917)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1843 Neighboring gene uncharacterized LOC124901070 Neighboring gene RNA, 7SL, cytoplasmic 541, pseudogene Neighboring gene U7 small nuclear RNA Neighboring gene secretion associated Ras related GTPase 1B Neighboring gene HNF4 motif-containing MPRA enhancer 267 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

Homology

Clone Names

  • KIAA0239

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
part_of histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_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/Swiss-Prot
    Q9NQC1
    UniProtKB/TrEMBL
    A0A0C4DFT8
    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/Swiss-Prot
    Q9NQC1
    UniProtKB/TrEMBL
    B3KPL2
    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/Swiss-Prot
    Q9NQC1
    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
    UniProtKB/TrEMBL
    D6R9B8
    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
    UniProtKB/TrEMBL
    D6R9B8
    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
    UniProtKB/TrEMBL
    D6R9B8
    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
    UniProtKB/TrEMBL
    A0A087X085
    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
    Q96GQ6, Q9NQC1
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
  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
    Q96GQ6
  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
    Q96GQ6
  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

    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
    135049935..135108849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)