ENSMUSG00000030322


Mus musculus

Features
Gene ID: ENSMUSG00000030322
  
Biological name :Mbd4
  
Synonyms : Mbd4 / methyl-CpG binding domain 4, DNA glycosylase
  
Possible biological names infered from orthology : O95243
  
Species: Mus musculus
  
Chr. number: 6
Strand: -1
Band: E3
Gene start: 115840697
Gene end: 115853371
  
Corresponding Affymetrix probe sets: 10547088 (MoGene1.0st)   1441079_at (Mouse Genome 430 2.0 Array)   1449490_at (Mouse Genome 430 2.0 Array)   1457708_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000032469
Ensembl peptide - ENSMUSP00000145433
Ensembl peptide - ENSMUSP00000144930
Ensembl peptide - ENSMUSP00000125619
NCBI entrez gene - 17193     See in Manteia.
MGI - MGI:1333850
RefSeq - XM_006505679
RefSeq - XM_006505681
RefSeq - XM_006505680
RefSeq - NM_010774
RefSeq Peptide - NP_034904
swissprot - Q3TU27
swissprot - A0A0R4J0A8
swissprot - A0A0N4SV30
swissprot - A0A0N4SWA0
Ensembl - ENSMUSG00000030322
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mbd4ENSDARG00000110298Danio rerio
 MBD4ENSGALG00000020747Gallus gallus
 MBD4ENSG00000129071Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mecp2 / Q9Z2D6 / Methyl-CpG-binding protein 2 / P51608*ENSMUSG0000003139314


Protein motifs (from Interpro)
Interpro ID Name
 IPR001739  Methyl-CpG DNA binding
 IPR003265  HhH-GPD domain
 IPR011257  DNA glycosylase
 IPR016177  DNA-binding domain superfamily
 IPR017352  Methyl-CpG-binding domain protein 4


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
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0016607 nuclear speck IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0008263 pyrimidine-specific mismatch base pair DNA N-glycosylase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Cleavage of the damaged pyrimidine
Displacement of DNA glycosylase by APEX1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0000432 abnormal head morphology "anomalous structure or development of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: TxnipHyplip1/TxnipHyplip1
Genetic Background: B6.HcB19-TxnipHyplip1

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0002404 intestinal adenoma "benign tumors of the small and large intestine" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: ApcMin/Apc+,Mbd4tm1Bird/Mbd4tm1Bird
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0002766 situs inversus "lateral transposition of the viscera of the thorax and abdomen, sometimes incomplete" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0003257 abnormal abdominal wall "malformation in the margins that enclose the abdominal cavity; the major part is muscular but also includes skin, subcutaneous fat, fascia and the parietal peritoneum" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0004045 abnormal cell cycle checkpoint function "anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Hps1ep/Hps1ep,Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6 Hps1ep

Allelic Composition: Mbd4tm2Abc/Mbd4tm2Abc
Genetic Background: involves: 129/Sv * 129X1/SvJ * C57BL/6

 MP:0004083 polysyndactyly "greater than 5 digits present on an autopod with interdigital webbing also present" [rbabiuk:Randall Babiuk, Mouse Genome Informatics Curator]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0004100 abnormal spinal cord interneuron morphology "malformation or absence of neurons that exclusively interact with other neurons in the spinal cord" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0004132 absent embryonic cilia "absence of cilia on the cells of the embryonic node " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0004188 delayed embryo turning "completion of axial rotation occurs later than in controls but is eventually completed" [smb:Susan M Bello, Mouse Genome Informatics Curator ""]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0005192 increased motor neuron number "greater than the normal number of cells that innervate an effector (muscle or glandular) tissue" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0005230 ectrodactyly "absence of the middle rays, i.e., the central digits of the paws; usually associated with cleft paws and may also include syndactyly or aplasia of remaining digits" [OMIM:Online Mendelian Inheritance in Man]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: TxnipHyplip1/TxnipHyplip1
Genetic Background: B6.HcB19-TxnipHyplip1

Allelic Composition: Mbd4tm1Wed/Mbd4tm1Wed
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

Allelic Composition: Apctm1Rak/Apc+,Mbd4tm1Wed/Mbd4tm1Wed
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * SJL

 MP:0006279 abnormal limb development "anomaly in the formation of the limbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0008058 abnormal DNA repair "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]
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Allelic Composition: ApcMin/Apc+,Mbd4tm1Bird/Mbd4tm1Bird
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008874 decreased sensitivity to xenobiotics "increase in the dose or concentration of a foreign compound required to induce a specific level of response" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hps1ep/Hps1ep,Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6 Hps1ep

Allelic Composition: Mbd4tm2Abc/Mbd4tm2Abc
Genetic Background: involves: 129/Sv * 129X1/SvJ * C57BL/6

 MP:0008877 abnormal DNA methylation "any anomaly in the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine of DNA" [GO:0006306]
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Allelic Composition: Gcm1tm1Hoso/Gcm1tm1Hoso,Gcm2tm1Hoso/Gcm2tm1Hoso
Genetic Background: either: (involves: 129X1/SvJ * C57BL/6) or (involves: 129X1/SvJ * CD-1)

 MP:0008944 decreased sensitivity to induced cell death "increase in the exposure level to an agent that is required to induce cessation of function at the cellular level" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hps1ep/Hps1ep,Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6 Hps1ep

Allelic Composition: Mbd4tm2Abc/Mbd4tm2Abc
Genetic Background: involves: 129/Sv * 129X1/SvJ * C57BL/6

 MP:0010279 increased gastrointestinal tumor incidence "greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Apctm1Rak/Apc+,Mbd4tm1Wed/Mbd4tm1Wed
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * SJL

 MP:0010395 abnormal branchial arch development "abnormal formation of the of the transient structures of the embryo that develop into regions of the head, neck and ears" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0010808 right-sided stomach "stomach is present on the right side of the body instead of the left" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0011998 decreased embryonic cilium length "reduced length of the cilia of the mouse embryo found on the cells of the embryonic node" [MGI:csmith]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0012531 delayed limb development "late onset of the induction and/or differentiation of the limbs" [MGI:anna]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0012720 elongated neck "increased length of the neck" [MGI:anna]
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Allelic Composition: Igfbp3tm1Lex/Igfbp3tm1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000035960 Apex1 / P28352 / DNA-(apurinic or apyrimidinic site) lyase DNA-(apurinic or apyrimidinic site) lyase, mitochondrial / P27695* / apurinic/apyrimidinic endodeoxyribonuclease 1*  / reaction






 

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