XPB
MCID: XRD013
MIFTS: 35

Xeroderma Pigmentosum, Group B (XPB) malady

Neuronal, Eye, Skin, Fetal, Cancer categories

Summaries for Xeroderma Pigmentosum, Group B

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47OMIM, 33MalaCards
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MalaCards: Xeroderma Pigmentosum, Group B, also known as xeroderma pigmentosum complementation group b, is related to xeroderma pigmentosum and cockayne syndrome. An important gene associated with Xeroderma Pigmentosum, Group B is ERCC3 (excision repair cross-complementing rodent repair deficiency, complementation group 3), and among its related pathways are Transcription P53 signaling pathway and RNA Polymerase I Chain Elongation. The compounds phosphodiester and melphalan have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and breast.

Description from OMIM:47 610651

Aliases & Classifications for Xeroderma Pigmentosum, Group B

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Neuronal, Eye, Skin


Characteristics (Orphanet epidemiological data):

49
xeroderma pigmentosum complementation group b:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

xeroderma pigmentosum, group b 47 61
xeroderma pigmentosum complementation group b 49
xpb 49


External Ids:

OMIM47 610651
ICD10 via Orphanet26 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group B

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Group B:



Diseases related to xeroderma pigmentosum, group b

Clinical Features for Xeroderma Pigmentosum, Group B

Sources:
47OMIM
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Clinical features from OMIM:

610651

Clinical synopsis from OMIM:

610651

Drugs & Therapeutics for Xeroderma Pigmentosum, Group B

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Xeroderma Pigmentosum, Group B

Anatomical Context for Xeroderma Pigmentosum, Group B

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33MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group B:

33
Brain, Lung, Breast, Skin, B cells

Animal Models for Xeroderma Pigmentosum, Group B or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Xeroderma Pigmentosum, Group B

Sources:
51PubMed
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Articles related to Xeroderma Pigmentosum, Group B:

(show all 45)
idTitleAuthorsYear
1
Loss of the xeroderma pigmentosum group B protein binding site impairs p210 BCR/ABL1 leukemogenic activity. (23955590)
2013
2
Xeroderma pigmentosum complementation group D (XPD) gene polymorphisms contribute to bladder cancer risk: a meta-analysis. (24347488)
2013
3
Hydrogen/Deuterium Exchange Reflects Binding of Human Centrin 2 to Ca(2+) and Xeroderma Pigmentosum Group C Peptide: An Example of EX1 Kinetics. (23439742)
2012
4
Xeroderma pigmentosum group F protein binds to Eg5 and is required for proper mitosis: implications for XP-F and XFE. (22353549)
2012
5
Clinicopathological significance and prognostic value of Xeroderma pigmentosum complementary group C (XPC) expression in sporadic breast cancer patients. (22038723)
2012
6
Arsenite and its mono- and dimethylated trivalent metabolites enhance the formation of benzo[a]pyrene diol epoxide-DNA adducts in Xeroderma pigmentosum complementation group A cells. (19146383)
2009
7
The carboxy-terminal domain of xeroderma pigmentosum complementation group C protein, involved in TFIIH and centrin binding, is highly disordered. (18177054)
2008
8
Xeroderma pigmentosum complementation group C genotypes/diplotypes play no independent or interaction role with polycyclic aromatic hydrocarbons-DNA adducts for breast cancer risk. (18053706)
2008
9
Protein expression levels of excision repair cross-complementation group 1 and xeroderma pigmentosum D correlate with response to platinum-based chemotherapy in the patients with advanced epithelial ovarian cancer. (18081788)
2008
10
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases. (18987743)
2008
11
Attenuated expression of xeroderma pigmentosum group C is associated with critical events in human bladder cancer carcinogenesis and progression. (17510383)
2007
12
Deficient base excision repair of oxidative DNA damage induced by methylene blue plus visible light in xeroderma pigmentosum group C fibroblasts. (17573042)
2007
13
The xeroderma pigmentosum group C protein complex and ultraviolet-damaged DNA-binding protein: functional assays for damage recognition factors involved in global genome repair. (16793369)
2006
14
Specific and efficient binding of xeroderma pigmentosum complementation group A to double-strand/single-strand DNA junctions with 3'- and/or 5'-ssDNA branches. (17176115)
2006
15
Xeroderma pigmentosum group D haplotype predicts for response, survival, and toxicity after platinum-based chemotherapy in advanced nonsmall cell lung cancer. (16649224)
2006
16
Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. (16533048)
2006
17
Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein. (17154534)
2006
18
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
19
DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray. (15654957)
2005
20
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. (15626539)
2005
21
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. (16135823)
2005
22
Xeroderma pigmentosum complementation group E protein (XPE/DDB2): purification of various complexes of XPE and analyses of their damaged DNA binding and putative DNA repair properties. (16260596)
2005
23
DDB2, the xeroderma pigmentosum group E gene product, is directly ubiquitylated by Cullin 4A-based ubiquitin ligase complex. (15811626)
2005
24
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. (15214909)
2004
25
Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. (15535132)
2004
26
Xeroderma pigmentosum group C protein possesses a high affinity binding site to human centrin 2 and calmodulin. (12890685)
2003
27
Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein. (12509284)
2002
28
A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer. (11751380)
2001
29
Partial complementation of the DNA repair defects in cells from xeroderma pigmentosum groups A, C, D and F but not G by the denV gene from bacteriophage T4. (10989608)
2000
30
Repair of oxidative DNA base lesions induced by fluorescent light is defective in xeroderma pigmentosum group A cells. (10454612)
1999
31
BCR binds to the xeroderma pigmentosum group B protein. (10403766)
1999
32
p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C. (9766670)
1998
33
p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. (9632823)
1998
34
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. (9426063)
1998
35
Preferential DNA damage in the p53 gene by benzo[a]pyrene metabolites in cytochrome P4501A1-expressing xeroderma pigmentosum group A cells. (8634092)
1996
36
Isolation of a cDNA encoding a UV-damaged DNA binding factor defective in xeroderma pigmentosum group E cells. (8538642)
1996
37
Nuclear cap binding protein maps close to the xeroderma pigmentosum complementation group A (XPA) locus in human and mouse. (8812508)
1996
38
Xeroderma pigmentosum group E binding factor recognizes a broad spectrum of DNA damage. (7523888)
1994
39
Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein. (8171034)
1994
40
A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations. (7513056)
1994
41
A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q. (7829076)
1994
42
Preferential binding of the xeroderma pigmentosum group A complementing protein to damaged DNA. (8218288)
1993
43
DNA strand bias in the repair of the p53 gene in normal human and xeroderma pigmentosum group C fibroblasts. (8221675)
1993
44
Molecular basis of group A Xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. (1339397)
1992
45
Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA. (3175673)
1988

Genetic Variations for Xeroderma Pigmentosum, Group B

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Xeroderma Pigmentosum, Group B:

63
id Symbol AA change Variation SNP ID
1ERCC3p.Phe99SerVAR_003632

Expression for genes affiliated with Xeroderma Pigmentosum, Group B

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Group B

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Group B.

Pathways for genes affiliated with Xeroderma Pigmentosum, Group B

Sources:
12EMD Millipore, 54Reactome, 4Cell Signaling Technology, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Transcription P53 signaling pathway
Hide members
9.3ERCC2, ERCC3
2
Hide members
9.3ERCC2, ERCC3
39.3ERCC2, ERCC3
4
Hide members
9.3ERCC2, ERCC3
5
Hide members
9.3ERCC3, ERCC2
6
Hide members
8.8POLR2L, ERCC3, ERCC2
7
Hide members
8.8POLR2L, ERCC3, ERCC2
8
Hide members
8.8ERCC2, ERCC3, POLR2L
9
Hide members
8.8POLR2L, ERCC3, ERCC2
10
Hide members
8.8ERCC2, ERCC3, POLR2L
11
Hide members
8.8ERCC2, ERCC3, POLR2L
12
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
Hide members
8.8ERCC2, ERCC3, POLR2L
13
Hide members
8.8POLR2L, ERCC3, ERCC2
14
Hide members
8.8POLR2L, ERCC3, ERCC2
158.0BCR, ERCC2, ERCC3, POLR2L

Compounds for genes affiliated with Xeroderma Pigmentosum, Group B

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR
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Compounds related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphodiester459.6ERCC3, POLR2L
2melphalan45 1110.4ERCC2, ERCC3
3thymidylate459.3POLR2L, ERCC2
4phosphoserine45 2410.2POLR2L, BCR
5cyclophosphamide45 50 1111.0BCR, ERCC2
6cytochalasin d45 6010.0BCR, POLR2L
7cisplatin45 50 60 1112.0ERCC2, ERCC3, POLR2L
8atp45 299.3BCR, ERCC3, POLR2L

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group B

Sources:
16Gene Ontology
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Cellular components related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SSL2-core TFIIH complexGO:0004419.2ERCC2, ERCC3
2holo TFIIH complexGO:0056759.0ERCC2, ERCC3
3nucleoplasmGO:0056548.8ERCC2, ERCC3, POLR2L

Biological processes related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incisionGO:0336839.6ERCC2, ERCC3
2regulation of mitotic cell cycle phase transitionGO:19019909.6ERCC2, ERCC3
3hair cell differentiationGO:0353159.6ERCC3, ERCC2
4UV protectionGO:0096509.6ERCC2, ERCC3
5transcription elongation from RNA polymerase I promoterGO:0063629.6ERCC3, ERCC2
6nucleotide-excision repair, DNA damage removalGO:0007189.6ERCC2, ERCC3
7termination of RNA polymerase I transcriptionGO:0063639.5ERCC2, ERCC3
8transcription initiation from RNA polymerase I promoterGO:0063619.5ERCC2, ERCC3
9transcription from RNA polymerase I promoterGO:0063609.4ERCC2, ERCC3
10response to hypoxiaGO:0016669.3ERCC2, ERCC3
117-methylguanosine mRNA cappingGO:0063709.2ERCC2, ERCC3, POLR2L
12positive regulation of viral transcriptionGO:0504349.1ERCC2, ERCC3, POLR2L
13transcription-coupled nucleotide-excision repairGO:0062839.1POLR2L, ERCC3, ERCC2
14transcription elongation from RNA polymerase II promoterGO:0063689.1ERCC2, ERCC3, POLR2L
15nucleotide-excision repairGO:0062899.1POLR2L, ERCC3, ERCC2
16transcription initiation from RNA polymerase II promoterGO:0063679.1ERCC2, ERCC3, POLR2L
17response to oxidative stressGO:0069799.0ERCC2, ERCC3
18DNA repairGO:0062819.0POLR2L, ERCC3, ERCC2
19viral processGO:0160328.9POLR2L, ERCC3, ERCC2
20transcription from RNA polymerase II promoterGO:0063668.8ERCC2, ERCC3, POLR2L
21gene expressionGO:0104678.7POLR2L, ERCC3, ERCC2

Molecular functions related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II carboxy-terminal domain kinase activityGO:0083539.4ERCC2, ERCC3
2ATP-dependent DNA helicase activityGO:0040039.4ERCC2, ERCC3
3DNA-dependent ATPase activityGO:0080949.3ERCC2, ERCC3
4protein kinase activityGO:0046729.3ERCC2, ERCC3
5protein N-terminus bindingGO:0474859.2ERCC3, ERCC2
6protein C-terminus bindingGO:0080229.0ERCC2, ERCC3

Products for genes affiliated with Xeroderma Pigmentosum, Group B

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Sources for Xeroderma Pigmentosum, Group B

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet