XPB
MCID: XRD013
MIFTS: 37

Xeroderma Pigmentosum, Group B (XPB) malady

Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases, Rare diseases categories
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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-complementation group 3), and among its related pathways are Chromatin Regulation / Acetylation and Transcription Ligand Dependent Transcription of Retinoid Target genes. The compounds cyclophosphamide and melphalan have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related mouse phenotypes are cellular and behavior/neurological.

Description from OMIM:47 610651

Aliases & Classifications for Xeroderma Pigmentosum, Group B

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47OMIM, 62UMLS, 49Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



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 62
xeroderma pigmentosum complementation group b 49
xpb 49


External Ids:

SNOMED-CT via Orphanet59 1073003
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 diseases related to Xeroderma Pigmentosum, Group B:



Diseases related to xeroderma pigmentosum, group b

Symptoms for Xeroderma Pigmentosum, Group B

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47OMIM
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Symptoms by clinical synopsis from OMIM:

610651

Clinical features from OMIM:

610651

Drugs & Therapeutics for Xeroderma Pigmentosum, Group B

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Group B

Search NIH Clinical Center for Xeroderma Pigmentosum, Group B

Genetic Tests for Xeroderma Pigmentosum, Group B

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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
Eye, Skin

Animal Models for Xeroderma Pigmentosum, Group B or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group B:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.5ERCC3, ERCC2, BCR
2MP:00053868.2ERCC3, ERCC2, BCR

Publications for Xeroderma Pigmentosum, Group B

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52PubMed
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Articles related to Xeroderma Pigmentosum, Group B:

idTitleAuthorsYear
1
Loss of the xeroderma pigmentosum group B protein binding site impairs p210 BCR/ABL1 leukemogenic activity. (23955590)
2013
2
The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein. (9874796)
1999
3
BCR binds to the xeroderma pigmentosum group B protein. (10403766)
1999
4
Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay. (9427533)
1997
5
Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21. (1916809)
1991

Variations for Xeroderma Pigmentosum, Group B

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Group B:

64
id Symbol AA change Variation ID SNP ID
1ERCC3p.Phe99SerVAR_003632

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group B:

1
id Gene Name Type Significance SNP ID Assembly Location
1ERCC3NM_000122.1(ERCC3): c.296T> C (p.Phe99Ser)single nucleotide variantPathogenicrs121913045GRCh37Chr 2, 128050361: 128050361
2ERCC3NM_000122.1(ERCC3): c.1273C> T (p.Arg425Ter)single nucleotide variantPathogenicrs121913047GRCh37Chr 2, 128044348: 128044348
3ERCC3NM_000122.1(ERCC3): c.1633C> T (p.Gln545Ter)single nucleotide variantPathogenicrs121913048GRCh37Chr 2, 128036846: 128036846

Expression for genes affiliated with Xeroderma Pigmentosum, Group B

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2BioGPS, 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

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Sources:
50PathCards, 5Cell Signaling Technology, 60Thomson Reuters, 53QIAGEN, 55Reactome, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0ERCC3, ERCC2
29.0ERCC3, ERCC2
3
Show member pathways
9.0ERCC2, ERCC3
4
Show member pathways
9.0ERCC3, ERCC2
5
Show member pathways
9.0ERCC3, ERCC2
6
Show member pathways
9.0ERCC2, ERCC3
7
Show member pathways
9.0ERCC2, ERCC3
89.0ERCC3, ERCC2
9
Show member pathways
9.0ERCC3, ERCC2
10
Show member pathways
9.0ERCC3, ERCC2
11
Show member pathways
9.0ERCC3, ERCC2
128.5BCR, ERCC2, ERCC3

Compounds for genes affiliated with Xeroderma Pigmentosum, Group B

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45Novoseek, 51PharmGKB, 11DrugBank
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Compounds related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclophosphamide45 51 1111.1ERCC2, BCR
2melphalan45 51 1110.7ERCC3, ERCC2

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group B

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

idNameGO IDScoreTop Affiliating Genes
1holo TFIIH complexGO:0056759.0ERCC3, ERCC2
2SSL2-core TFIIH complexGO:0004418.7ERCC3, ERCC2

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incisionGO:0336839.4ERCC3, ERCC2
2regulation of mitotic cell cycle phase transitionGO:19019909.4ERCC3, ERCC2
3hair cell differentiationGO:0353159.4ERCC2, ERCC3
4UV protectionGO:0096509.3ERCC3, ERCC2
5transcription elongation from RNA polymerase I promoterGO:0063629.3ERCC2, ERCC3
6nucleotide-excision repair, DNA damage removalGO:0007189.3ERCC2, ERCC3
7termination of RNA polymerase I transcriptionGO:0063639.3ERCC3, ERCC2
8transcription initiation from RNA polymerase I promoterGO:0063619.3ERCC2, ERCC3
9transcription from RNA polymerase I promoterGO:0063609.3ERCC3, ERCC2
107-methylguanosine mRNA cappingGO:0063709.3ERCC3, ERCC2
11positive regulation of viral transcriptionGO:0504349.3ERCC2, ERCC3
12transcription-coupled nucleotide-excision repairGO:0062839.2ERCC3, ERCC2
13transcription elongation from RNA polymerase II promoterGO:0063689.2ERCC3, ERCC2
14nucleotide-excision repairGO:0062899.2ERCC2, ERCC3
15response to oxidative stressGO:0069799.1ERCC3, ERCC2
16response to hypoxiaGO:0016669.1ERCC2, ERCC3
17transcription initiation from RNA polymerase II promoterGO:0063679.0ERCC3, ERCC2
18transcription from RNA polymerase II promoterGO:0063669.0ERCC3, ERCC2
19DNA repairGO:0062818.9ERCC3, ERCC2
20protein phosphorylationGO:0064688.8ERCC2, BCR

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II carboxy-terminal domain kinase activityGO:0083539.2ERCC3, ERCC2
2ATP-dependent DNA helicase activityGO:0040039.1ERCC3, ERCC2
3DNA-dependent ATPase activityGO:0080949.1ERCC3, ERCC2
4protein N-terminus bindingGO:0474859.0ERCC2, ERCC3
5protein kinase activityGO:0046729.0ERCC3, ERCC2
6protein C-terminus bindingGO:0080228.7ERCC3, ERCC2
7ATP bindingGO:0055248.4ERCC3, ERCC2, BCR

Products for genes affiliated with Xeroderma Pigmentosum, Group B

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Sources for Xeroderma Pigmentosum, Group B

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet