ENSG00000076248


Homo sapiens

Features
Gene ID: ENSG00000076248
  
Biological name :UNG
  
Synonyms : P13051 / UNG / uracil DNA glycosylase
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q24.11
Gene start: 109097574
Gene end: 109110992
  
Corresponding Affymetrix probe sets: 202330_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000337398
Ensembl peptide - ENSP00000440784
Ensembl peptide - ENSP00000400287
Ensembl peptide - ENSP00000242576
NCBI entrez gene - 7374     See in Manteia.
OMIM - 191525
RefSeq - NM_003362
RefSeq - NM_080911
RefSeq Peptide - NP_003353
RefSeq Peptide - NP_550433
swissprot - E5KTA6
swissprot - Q68DM5
swissprot - E5KTA5
swissprot - F5GYA2
swissprot - P13051
Ensembl - ENSG00000076248
  
Related genetic diseases (OMIM): 608106 - Immunodeficiency with hyper IgM, type 5, 608106
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ungaENSDARG00000042527Danio rerio
 UNGENSGALG00000021285Gallus gallus
 UngENSMUSG00000029591Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002043  Uracil-DNA glycosylase family 1
 IPR005122  Uracil-DNA glycosylase-like
 IPR018085  Uracil-DNA glycosylase, active site
 IPR036895  Uracil-DNA glycosylase-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006284 base-excision repair IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016446 somatic hypermutation of immunoglobulin genes IEA
 biological_processGO:0016447 somatic recombination of immunoglobulin gene segments IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0045008 depyrimidination TAS
 biological_processGO:0045830 positive regulation of isotype switching IEA
 biological_processGO:0097510 base-excision repair, AP site formation via deaminated base removal IDA
 cellular_componentGO:0005634 nucleus NAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005739 mitochondrion IEA
 molecular_functionGO:0003684 damaged DNA binding IDA
 molecular_functionGO:0004844 uracil DNA N-glycosylase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016799 hydrolase activity, hydrolyzing N-glycosyl compounds IEA
 molecular_functionGO:0043024 ribosomal small subunit binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000031 Epididymitis "Inflammation of the epididymis." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0002718 Recurrent bacterial infections 
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 HP:0002720 Decreased IgA 
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 HP:0002721 Immunodeficiency 
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 HP:0002959 Impaired Ig class switch recombination (CSR) 
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 HP:0003496 Increased IgM level "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson]
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 HP:0004315 Decreased IgG level "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson]
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 HP:0200117 Recurrent upper and lower respiratory tract infections 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100823 APEX1 / P27695 / apurinic/apyrimidinic endodeoxyribonuclease 1  / reaction






 

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