MCID: XRD027
MIFTS: 33

Xeroderma Pigmentosum Group E

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum Group E

MalaCards integrated aliases for Xeroderma Pigmentosum Group E:

Name: Xeroderma Pigmentosum Group E 12 15
Xeroderma Pigmentosum, Group E 29 6
Xeroderma Pigmentosum, Complementation Group E 73
Xeroderma Pigmentosum V 12
Xp Group E 12
Xpe 12
Xp5 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110846
ICD10 33 Q82.1
UMLS 73 C1848411

Summaries for Xeroderma Pigmentosum Group E

Disease Ontology : 12 A xeroderma pigmentosum characterized by a mild phenotype that has material basis in homozygous mutation in the DDB2 gene on chromosome 11p11.

MalaCards based summary : Xeroderma Pigmentosum Group E, also known as xeroderma pigmentosum, group e, is related to xeroderma pigmentosum, complementation group e and cockayne syndrome. An important gene associated with Xeroderma Pigmentosum Group E is DDB2 (Damage Specific DNA Binding Protein 2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Related Diseases for Xeroderma Pigmentosum Group E

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum Group E:



Diseases related to Xeroderma Pigmentosum Group E

Symptoms & Phenotypes for Xeroderma Pigmentosum Group E

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum Group E according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.43 DDB1 XPC
2 Decreased homologous recombination repair frequency GR00151-A-2 9.43 DDB1 XPC
3 Decreased homologous recombination repair frequency GR00236-A-1 9.43 DDB1
4 Decreased homologous recombination repair frequency GR00236-A-3 9.43 DDB1
5 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 CUL1 DDB1 DDB2 ERCC1 POLH RAD23B

MGI Mouse Phenotypes related to Xeroderma Pigmentosum Group E:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 CUL1 DDB1 DDB2 ERCC1 GLI3 RAD23B
2 growth/size/body region MP:0005378 9.92 CUL1 DDB2 ERCC1 GLI3 POLH RAD23B
3 integument MP:0010771 9.8 DDB2 ERCC1 GLI3 POLH RAD23B XPA
4 mortality/aging MP:0010768 9.76 CUL1 DDB1 DDB2 ERCC1 GLI3 RAD23B
5 neoplasm MP:0002006 9.35 XPC DDB2 ERCC1 POLH XPA
6 vision/eye MP:0005391 9.02 DDB1 GLI3 RAD23B XPA XPC

Drugs & Therapeutics for Xeroderma Pigmentosum Group E

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum Group E

Genetic Tests for Xeroderma Pigmentosum Group E

Genetic tests related to Xeroderma Pigmentosum Group E:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group E 29 DDB2

Anatomical Context for Xeroderma Pigmentosum Group E

Publications for Xeroderma Pigmentosum Group E

Articles related to Xeroderma Pigmentosum Group E:

(show all 21)
# Title Authors Year
1
The xeroderma pigmentosum group E gene product DDB2 activates nucleotide excision repair by regulating the level of p21Waf1/Cip1. ( 17967871 )
2008
2
Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome. ( 16325378 )
2006
3
The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites. ( 16473935 )
2006
4
DDB1-DDB2 (xeroderma pigmentosum group E) protein complex recognizes a cyclobutane pyrimidine dimer, mismatches, apurinic/apyrimidinic sites, and compound lesions in DNA. ( 16223728 )
2005
5
DDB2, the xeroderma pigmentosum group E gene product, is directly ubiquitylated by Cullin 4A-based ubiquitin ligase complex. ( 15811626 )
2005
6
Abnormal regulation of DDB2 gene expression in xeroderma pigmentosum group E strains. ( 11704828 )
2001
7
XP43TO, previously classified as xeroderma pigmentosum Group E, should be reclassified as xeroderma pigmentosum variant. ( 11886541 )
2001
8
The xeroderma pigmentosum group E gene product DDB2 is a specific target of cullin 4A in mammalian cells. ( 11564859 )
2001
9
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. ( 10771487 )
2000
10
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A. ( 9584159 )
1998
11
Generation and characterization of an immortal cell line of xeroderma pigmentosum group E. ( 9539981 )
1998
12
p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. ( 9632823 )
1998
13
Isolation of a cDNA encoding a UV-damaged DNA binding factor defective in xeroderma pigmentosum group E cells. ( 8538642 )
1996
14
Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. ( 8798680 )
1996
15
repE--the Dictyostelium homolog of the human xeroderma pigmentosum group E gene is developmentally regulated and contains a leucine zipper motif. ( 8710499 )
1996
16
Xeroderma pigmentosum group E binding factor recognizes a broad spectrum of DNA damage. ( 7523888 )
1994
17
Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein. ( 8171034 )
1994
18
A 127 kDa component of a UV-damaged DNA-binding complex, which is defective in some xeroderma pigmentosum group E patients, is homologous to a slime mold protein. ( 8371985 )
1993
19
An ultraviolet light-damaged DNA recognition protein absent in xeroderma pigmentosum group E cells binds selectively to pyrimidine (6-4) pyrimidone photoproducts. ( 1454541 )
1992
20
Age-related changes in photosensitivity and cellular sensitivity to ultraviolet B in a xeroderma pigmentosum group E patient. ( 1756117 )
1991
21
Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA. ( 3175673 )
1988

Variations for Xeroderma Pigmentosum Group E

ClinVar genetic disease variations for Xeroderma Pigmentosum Group E:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DDB2 NM_000107.2(DDB2): c.730A> G (p.Lys244Glu) single nucleotide variant Pathogenic rs121434639 GRCh37 Chromosome 11, 47256335: 47256335
2 DDB2 NM_000107.2(DDB2): c.730A> G (p.Lys244Glu) single nucleotide variant Pathogenic rs121434639 GRCh38 Chromosome 11, 47234784: 47234784
3 DDB2 NM_000107.2(DDB2): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic rs121434640 GRCh37 Chromosome 11, 47256423: 47256423
4 DDB2 NM_000107.2(DDB2): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic rs121434640 GRCh38 Chromosome 11, 47234872: 47234872
5 DDB2 NM_000107.2(DDB2): c.937C> T (p.Arg313Ter) single nucleotide variant Pathogenic rs121434641 GRCh37 Chromosome 11, 47256877: 47256877
6 DDB2 NM_000107.2(DDB2): c.937C> T (p.Arg313Ter) single nucleotide variant Pathogenic rs121434641 GRCh38 Chromosome 11, 47235326: 47235326
7 DDB2 NM_000107.2(DDB2): c.919G> T (p.Asp307Tyr) single nucleotide variant Pathogenic rs121434642 GRCh37 Chromosome 11, 47256859: 47256859
8 DDB2 NM_000107.2(DDB2): c.919G> T (p.Asp307Tyr) single nucleotide variant Pathogenic rs121434642 GRCh38 Chromosome 11, 47235308: 47235308

Expression for Xeroderma Pigmentosum Group E

Search GEO for disease gene expression data for Xeroderma Pigmentosum Group E.

Pathways for Xeroderma Pigmentosum Group E

Pathways related to Xeroderma Pigmentosum Group E according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 DDB1 DDB2 ERCC1 POLH RAD23B XPA
2
Show member pathways
12.47 DDB1 DDB2 ERCC1 RAD23B XPA XPC
3
Show member pathways
12.37 ERCC1 POLH RAD23B XPA XPC
4 11.97 DDB1 DDB2 ERCC1 POLH RAD23B XPA
5 11.75 CUL1 DDB1 DDB2
6 11.44 ERCC1 POLH XPA
7
Show member pathways
11.16 DDB1 DDB2 ERCC1 RAD23B XPA XPC
8 10.96 ERCC1 POLH XPA

GO Terms for Xeroderma Pigmentosum Group E

Cellular components related to Xeroderma Pigmentosum Group E according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.37 DDB1 DDB2
2 cullin-RING ubiquitin ligase complex GO:0031461 9.32 CUL1 DDB1
3 nucleoplasm GO:0005654 9.28 CUL1 DDB1 DDB2 ERCC1 GLI3 POLH
4 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.26 DDB1 DDB2
5 nucleotide-excision repair factor 1 complex GO:0000110 9.16 ERCC1 XPA
6 XPC complex GO:0071942 8.96 RAD23B XPC
7 nucleus GO:0005634 10.01 DDB1 DDB2 ERCC1 GLI3 POLH RAD23B

Biological processes related to Xeroderma Pigmentosum Group E according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.98 DDB1 DDB2 ERCC1 POLH RAD23B XPA
2 DNA repair GO:0006281 9.95 DDB1 DDB2 ERCC1 POLH RAD23B XPA
3 nucleotide-excision repair, DNA incision GO:0033683 9.81 DDB1 DDB2 ERCC1 XPA
4 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.8 DDB1 DDB2 ERCC1 XPA
5 post-translational protein modification GO:0043687 9.78 CUL1 DDB1 DDB2
6 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.78 DDB1 DDB2 ERCC1 XPA
7 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.77 CUL1 DDB1 RAD23B
8 nucleotide-excision repair, preincision complex assembly GO:0006294 9.77 DDB1 DDB2 RAD23B XPA XPC
9 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.76 DDB1 DDB2 ERCC1 XPA
10 transcription-coupled nucleotide-excision repair GO:0006283 9.72 DDB1 ERCC1 XPA
11 nucleotide-excision repair, DNA damage recognition GO:0000715 9.72 DDB1 DDB2 RAD23B XPA XPC
12 embryonic organ development GO:0048568 9.7 ERCC1 GLI3 RAD23B
13 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.65 DDB1 DDB2 RAD23B XPA XPC
14 nucleotide-excision repair GO:0006289 9.63 DDB1 DDB2 ERCC1 RAD23B XPA XPC
15 response to UV GO:0009411 9.6 DDB2 XPA
16 UV protection GO:0009650 9.58 ERCC1 XPA
17 histone H2A monoubiquitination GO:0035518 9.58 DDB1 DDB2
18 response to auditory stimulus GO:0010996 9.57 XPA XPC
19 regulation of mitotic cell cycle phase transition GO:1901990 9.56 DDB1 XPC
20 pyrimidine dimer repair GO:0006290 9.54 DDB2 POLH
21 UV-damage excision repair GO:0070914 9.35 DDB1 DDB2 ERCC1 XPA XPC
22 global genome nucleotide-excision repair GO:0070911 9.1 DDB1 DDB2 ERCC1 RAD23B XPA XPC

Molecular functions related to Xeroderma Pigmentosum Group E according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.5 DDB1 DDB2 ERCC1 GLI3 POLH XPA
2 single-stranded DNA binding GO:0003697 9.33 ERCC1 RAD23B XPC
3 damaged DNA binding GO:0003684 9.17 DDB1 DDB2 ERCC1 POLH RAD23B XPA

Sources for Xeroderma Pigmentosum Group E

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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