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DTX2 deltex E3 ubiquitin ligase 2 [ Homo sapiens (human) ]

Gene ID: 113878, updated on 22-Sep-2022

Summary

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Official Symbol
DTX2provided by HGNC
Official Full Name
deltex E3 ubiquitin ligase 2provided by HGNC
Primary source
HGNC:HGNC:15973
See related
Ensembl:ENSG00000091073 MIM:613141; AllianceGenome:HGNC:15973
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
RNF58
Summary
DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
Expression
Broad expression in esophagus (RPKM 8.4), testis (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

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See DTX2 in Genome Data Viewer
Location:
7q11.23
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (76461709..76505991)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77750196..77797419)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76091026..76135308)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene zona pellucida glycoprotein 3 Neighboring gene Sharpr-MPRA regulatory region 7220 Neighboring gene Sharpr-MPRA regulatory region 8731 Neighboring gene farnesyl diphosphate synthase pseudogene 2 Neighboring gene uncharacterized LOC124901675 Neighboring gene uroplakin 3B Neighboring gene speedy/RINGO cell cycle regulator family member E16

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. cDNA cloning, characterization and expression analysis of DTX2, a human WWE and RING-finger gene, in human embryos. Yi Z, et al. DNA Seq, 2006 Jun. PMID 17286044
  2. Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. Hiller M, et al. Am J Hum Genet, 2006 Feb. PMID 16400609, Free PMC Article
  3. The BAL-binding protein BBAP and related Deltex family members exhibit ubiquitin-protein isopeptide ligase activity. Takeyama K, et al. J Biol Chem, 2003 Jun 13. PMID 12670957
  4. Role of Deltex-1 as a transcriptional regulator downstream of the Notch receptor. Yamamoto N, et al. J Biol Chem, 2001 Nov 30. PMID 11564735
  5. Deltex acts as a positive regulator of Notch signaling through interactions with the Notch ankyrin repeats. Matsuno K, et al. Development, 1995 Aug. PMID 7671825

See all (38) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DTX2 is a gene encoding a WWE-RING-finger protein and involved in regulating heart development and heart functions.
    Title: cDNA cloning, characterization and expression analysis of DTX2, a human WWE and RING-finger gene, in human embryos.
  2. It is reported that BBAP and the human family of DTX proteins (DTX1, DTX2, and DTX3) function as E3 ligases based on their capacity for self-ubiquitination.
    Title: The BAL-binding protein BBAP and related Deltex family members exhibit ubiquitin-protein isopeptide ligase activity.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1528, MGC71098

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
probable E3 ubiquitin-protein ligase DTX2
Names
RING-type E3 ubiquitin transferase DTX2
deltex 2, E3 ubiquitin ligase
deltex homolog 2
deltex2
hDTX2
protein deltex-2
ring finger protein 58
zinc ion binding protein
NP_001096064.1
NP_001096065.1
NP_001096066.1
NP_065943.2
XP_011514076.1
XP_016867213.1
XP_016867215.1
XP_016867219.1
XP_024302417.1
XP_047275808.1
XP_047275809.1
XP_047275810.1
XP_047275811.1
XP_047275812.1
XP_047275813.1
XP_047275814.1
XP_047275815.1
XP_047275816.1
XP_047275817.1
XP_047275818.1

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_001102594.3 → NP_001096064.1  probable E3 ubiquitin-protein ligase DTX2 isoform a

    See identical proteins and their annotated locations for NP_001096064.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1, and encodes isoform A. Variants 1-3 encode the same isoform (A).
    Source sequence(s)
    AB040961, AY225124, BC008856, BC018555, DA003606
    Consensus CDS
    CCDS5587.1
    UniProtKB/Swiss-Prot
    Q86UW9, Q9P200
    Related
    ENSP00000411986.2, ENST00000430490.7
    Conserved Domains (4) summary
    smart00678
    Location:21 → 105
    WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis
    cd09633
    Location:481 → 613
    Deltex_C; Domain found at the C-terminus of deltex-like
    cd16672
    Location:411 → 482
    RING-H2_DTX2; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase Deltex2 (DTX2) and similar proteins
    cl26464
    Location:166 → 394
    Atrophin-1; Atrophin-1 family

  2. NM_001102595.3 → NP_001096065.1  probable E3 ubiquitin-protein ligase DTX2 isoform a

    See identical proteins and their annotated locations for NP_001096065.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1, and encodes isoform A. Variants 1-3 encode the same isoform (A).
    Source sequence(s)
    AY225124, BC008856, BC018555, DA003606
    Consensus CDS
    CCDS5587.1
    UniProtKB/Swiss-Prot
    Q86UW9, Q9P200
    Related
    ENSP00000390218.2, ENST00000413936.6
    Conserved Domains (4) summary
    smart00678
    Location:21 → 105
    WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis
    cd09633
    Location:481 → 613
    Deltex_C; Domain found at the C-terminus of deltex-like
    cd16672
    Location:411 → 482
    RING-H2_DTX2; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase Deltex2 (DTX2) and similar proteins
    cl26464
    Location:166 → 394
    Atrophin-1; Atrophin-1 family

  3. NM_001102596.2 → NP_001096066.1  probable E3 ubiquitin-protein ligase DTX2 isoform b

    See identical proteins and their annotated locations for NP_001096066.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon, compared to variant 1, and encodes a shorter isoform (B), compared to isoform A.
    Source sequence(s)
    AY225125, BC008856, BP306192
    Consensus CDS
    CCDS43605.1
    UniProtKB/Swiss-Prot
    Q86UW9
    Related
    ENSP00000392545.2, ENST00000446820.6
    Conserved Domains (3) summary
    smart00678
    Location:21 → 105
    WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis
    cd09633
    Location:434 → 566
    Deltex_C; Domain found at the C-terminus of deltex-like
    cd16672
    Location:364 → 435
    RING-H2_DTX2; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase Deltex2 (DTX2) and similar proteins

  4. NM_020892.4 → NP_065943.2  probable E3 ubiquitin-protein ligase DTX2 isoform a

    See identical proteins and their annotated locations for NP_065943.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (A). Variants 1-3 encode the same isoform (A).
    Source sequence(s)
    AY225124, BC008856, BC018555, DA917716
    Consensus CDS
    CCDS5587.1
    UniProtKB/Swiss-Prot
    Q86UW9, Q9P200
    Related
    ENSP00000322885.5, ENST00000324432.9
    Conserved Domains (4) summary
    smart00678
    Location:21 → 105
    WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis
    cd09633
    Location:481 → 613
    Deltex_C; Domain found at the C-terminus of deltex-like
    cd16672
    Location:411 → 482
    RING-H2_DTX2; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase Deltex2 (DTX2) and similar proteins
    cl26464
    Location:166 → 394
    Atrophin-1; Atrophin-1 family

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    76461709..76505991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419856.1 → XP_047275812.1  probable E3 ubiquitin-protein ligase DTX2 isoform X1

    UniProtKB/Swiss-Prot
    Q9P200

  2. XM_047419854.1 → XP_047275810.1  probable E3 ubiquitin-protein ligase DTX2 isoform X1

    UniProtKB/Swiss-Prot
    Q9P200

  3. XM_047419855.1 → XP_047275811.1  probable E3 ubiquitin-protein ligase DTX2 isoform X1

    UniProtKB/Swiss-Prot
    Q9P200

  4. XM_047419853.1 → XP_047275809.1  probable E3 ubiquitin-protein ligase DTX2 isoform X1

    UniProtKB/Swiss-Prot
    Q9P200

  5. XM_047419860.1 → XP_047275816.1  probable E3 ubiquitin-protein ligase DTX2 isoform X3

  6. XM_047419858.1 → XP_047275814.1  probable E3 ubiquitin-protein ligase DTX2 isoform X2

  7. XM_047419862.1 → XP_047275818.1  probable E3 ubiquitin-protein ligase DTX2 isoform X4

  8. XM_017011726.3 → XP_016867215.1  probable E3 ubiquitin-protein ligase DTX2 isoform X2

    UniProtKB/Swiss-Prot
    Q86UW9
    Conserved Domains (3) summary
    smart00678
    Location:21 → 105
    WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis
    cd09633
    Location:434 → 566
    Deltex_C; Domain found at the C-terminus of deltex-like
    cd16672
    Location:364 → 435
    RING-H2_DTX2; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase Deltex2 (DTX2) and similar proteins

  9. XM_047419857.1 → XP_047275813.1  probable E3 ubiquitin-protein ligase DTX2 isoform X1

    UniProtKB/Swiss-Prot
    Q9P200

  10. XM_047419861.1 → XP_047275817.1  probable E3 ubiquitin-protein ligase DTX2 isoform X1

    UniProtKB/Swiss-Prot
    Q9P200

  11. XM_011515774.2 → XP_011514076.1  probable E3 ubiquitin-protein ligase DTX2 isoform X1

    See identical proteins and their annotated locations for XP_011514076.1

    UniProtKB/Swiss-Prot
    Q86UW9, Q9P200
    Conserved Domains (4) summary
    smart00678
    Location:21 → 105
    WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis
    cd09633
    Location:481 → 613
    Deltex_C; Domain found at the C-terminus of deltex-like
    cd16672
    Location:411 → 482
    RING-H2_DTX2; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase Deltex2 (DTX2) and similar proteins
    cl26464
    Location:166 → 394
    Atrophin-1; Atrophin-1 family

  12. XM_047419852.1 → XP_047275808.1  probable E3 ubiquitin-protein ligase DTX2 isoform X1

    UniProtKB/Swiss-Prot
    Q9P200

  13. XM_047419859.1 → XP_047275815.1  probable E3 ubiquitin-protein ligase DTX2 isoform X2

  14. XM_024446649.2 → XP_024302417.1  probable E3 ubiquitin-protein ligase DTX2 isoform X1

    UniProtKB/Swiss-Prot
    Q9P200
    Conserved Domains (4) summary
    smart00678
    Location:21 → 105
    WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis
    cd09633
    Location:481 → 613
    Deltex_C; Domain found at the C-terminus of deltex-like
    cd16672
    Location:411 → 482
    RING-H2_DTX2; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase Deltex2 (DTX2) and similar proteins
    cl26464
    Location:166 → 394
    Atrophin-1; Atrophin-1 family

  15. XM_017011730.3 → XP_016867219.1  probable E3 ubiquitin-protein ligase DTX2 isoform X5

  16. XM_017011724.2 → XP_016867213.1  probable E3 ubiquitin-protein ligase DTX2 isoform X1

    UniProtKB/Swiss-Prot
    Q86UW9, Q9P200
    Conserved Domains (4) summary
    smart00678
    Location:21 → 105
    WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis
    cd09633
    Location:481 → 613
    Deltex_C; Domain found at the C-terminus of deltex-like
    cd16672
    Location:411 → 482
    RING-H2_DTX2; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase Deltex2 (DTX2) and similar proteins
    cl26464
    Location:166 → 394
    Atrophin-1; Atrophin-1 family

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187561.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    1310..5010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    77750196..77797419
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86UW9.3 GenPept UniProtKB/Swiss-Prot:Q86UW9

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