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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MalaCards based summary: Xeroderma Pigmentosum, Group B, also known as xeroderma pigmentosum complementation group b, is related to xeroderma pigmentosum and cockayne syndrome, and has symptoms including 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:46 610651

Aliases & Classifications for Xeroderma Pigmentosum, Group B

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Sources:
46OMIM, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
See all sources

Xeroderma Pigmentosum, Group B, Aliases & Descriptions:

Name: Xeroderma Pigmentosum, Group B 46 62
Xeroderma Pigmentosum Complementation Group B 48 62
 
Xpb 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
xeroderma pigmentosum complementation group b:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


External Ids:

ICD10 via Orphanet26 Q82.1
OMIM46 610651

Related Diseases for Xeroderma Pigmentosum, Group B

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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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Symptoms by clinical synopsis from OMIM:

610651

Clinical features from OMIM:

610651

HPO human phenotypes related to Xeroderma Pigmentosum, Group B:

(show all 25)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypogonadism HP:0000135
3 microcephaly HP:0000252
4 sensorineural hearing impairment HP:0000407
5 cataract HP:0000518
6 microphthalmos HP:0000568
7 pigmentary retinopathy HP:0000580
8 optic atrophy HP:0000648
9 decreased nerve conduction velocity HP:0000762
10 cutaneous photosensitivity HP:0000992
11 intellectual disability HP:0001249
12 ataxia HP:0001251
13 cerebellar atrophy HP:0001272
14 hyperreflexia HP:0001347
15 freckling HP:0001480
16 ventriculomegaly HP:0002119
17 basal ganglia calcification HP:0002135
18 basal cell carcinoma HP:0002671
19 increased cellular sensitivity to uv light HP:0003224
20 short stature HP:0004322
21 dermal atrophy HP:0004334
22 progeroid facial appearance HP:0005328
23 squamous cell carcinoma of the skin HP:0006739
24 abnormal cns myelination HP:0011400
25 cutaneous melanoma HP:0012056

Drugs & Therapeutics for Xeroderma Pigmentosum, Group B

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

32
Eye, Skin

Animal Models for Xeroderma Pigmentosum, Group B or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group B:

36
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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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
A 3' --&gt; 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. (8663148)
1996
6
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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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:

6
id Gene Name Type Significance SNP ID Assembly Location
1ERCC3ERCC3, IVS14AS, C-A, -6single nucleotide variantPathogenic
2ERCC3NM_000122.1(ERCC3): c.296T> C (p.Phe99Ser)single nucleotide variantPathogenicrs121913045GRCh37Chr 2, 128050361: 128050361
3ERCC3NM_000122.1(ERCC3): c.1273C> T (p.Arg425Ter)single nucleotide variantPathogenicrs121913047GRCh37Chr 2, 128044348: 128044348
4ERCC3ERCC3, 2-BP DEL, 807TTdeletionPathogenic
5ERCC3ERCC3, 1-BP INSinsertionPathogenic
6ERCC3NM_000122.1(ERCC3): c.1633C> T (p.Gln545Ter)single nucleotide variantPathogenicrs121913048GRCh37Chr 2, 128036846: 128036846
7ERCC3ERCC3, IVS3DS, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Xeroderma Pigmentosum, Group B

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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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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
9.0ERCC2, ERCC3
5
Show member pathways
9.0ERCC2, ERCC3
6
Show member pathways
9.0ERCC3, ERCC2
7
Show member pathways
9.0ERCC2, ERCC3
89.0ERCC2, ERCC3
9
Show member pathways
9.0ERCC2, ERCC3
10
Show member pathways
9.0ERCC2, ERCC3
11
Show member pathways
9.0ERCC3, ERCC2
128.5ERCC2, ERCC3, BCR

Compounds for genes affiliated with Xeroderma Pigmentosum, Group B

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank
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Compounds related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclophosphamide44 50 1111.1ERCC2, BCR
2melphalan44 50 1110.7ERCC3, ERCC2

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group B

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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:0083539.2ERCC2, ERCC3
2ATP-dependent DNA helicase activityGO:0040039.1ERCC3, ERCC2
3DNA-dependent ATPase activityGO:0080949.1ERCC2, ERCC3
4protein N-terminus bindingGO:0474859.0ERCC3, ERCC2
5protein kinase activityGO:0046729.0ERCC2, ERCC3
6protein C-terminus bindingGO:0080228.7ERCC2, ERCC3
7ATP bindingGO:0055248.4BCR, ERCC2, ERCC3

Products for genes affiliated with Xeroderma Pigmentosum, Group B

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  • Antibodies
  • Proteins
  • Lysates

Sources for Xeroderma Pigmentosum, Group B

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet