ENSMUSG00000031858


Mus musculus

Features
Gene ID: ENSMUSG00000031858
  
Biological name :Mau2
  
Synonyms : Mau2 / MAU2 chromatid cohesion factor homolog / Q9D2X5
  
Possible biological names infered from orthology : MAU2 sister chromatid cohesion factor / Q9Y6X3
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: B3.3
Gene start: 70016123
Gene end: 70042734
  
Corresponding Affymetrix probe sets: 10579144 (MoGene1.0st)   1426250_s_at (Mouse Genome 430 2.0 Array)   1431070_a_at (Mouse Genome 430 2.0 Array)   1451993_at (Mouse Genome 430 2.0 Array)   1456492_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000148532
Ensembl peptide - ENSMUSP00000148601
Ensembl peptide - ENSMUSP00000054763
Ensembl peptide - ENSMUSP00000131966
Ensembl peptide - ENSMUSP00000148479
NCBI entrez gene - 74549     See in Manteia.
MGI - MGI:1921799
RefSeq - NM_001167939
RefSeq - XM_006509776
RefSeq - NM_028993
RefSeq Peptide - NP_083269
RefSeq Peptide - NP_001161411
swissprot - Z4YNA3
swissprot - A0A1D5RLR7
swissprot - Q9D2X5
swissprot - A0A1D5RLW7
Ensembl - ENSMUSG00000031858
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mau2ENSDARG00000042056Danio rerio
 MAU2ENSGALG00000002969Gallus gallus
 MAU2ENSG00000129933Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR019440  Chromatid cohesion factor MAU2
 IPR019734  Tetratricopeptide repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007059 chromosome segregation IEA
 biological_processGO:0007064 mitotic sister chromatid cohesion IEA
 biological_processGO:0034088 maintenance of mitotic sister chromatid cohesion IBA
 biological_processGO:0051301 cell division IEA
 biological_processGO:0071921 cohesin loading ISS
 cellular_componentGO:0000785 chromatin ISO
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm ISS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0016604 nuclear body ISO
 cellular_componentGO:0032116 SMC loading complex IBA
 cellular_componentGO:0090694 Scc2-Scc4 cohesin loading complex ISO
 molecular_functionGO:0003690 double-stranded DNA binding IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0047485 protein N-terminus binding ISO


Pathways (from Reactome)
Pathway description
Cohesin Loading onto Chromatin


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000024 lowered ear position "outer ears which are situated below the normal location " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbl+,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0000454 abnormal jaw morphology "malformation of the bony framework of the mouth where the teeth are held" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0001302 eyelids open at birth "widely open eyes instead of closed at perinatal stage" [J:51966]
Show

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0003935 abnormal craniofacial development "anomaly in the process of forming the face and/or cranium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0004592 small mandible "reduced size of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0006411 upturned snout "muzzle has a curve or tilt such that the tip points upwards" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0010168 increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number "a greater number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release" [ISBN:0781735149]
Show

Allelic Composition: Leprtm1b(EUCOMM)Wtsi/Leprtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Leprtm1b(EUCOMM)Wtsi/H

 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]
Show

Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Krit1tm1.1(KOMP)Vlcg/Krit1+
Genetic Background: C57BL/6N-Krit1tm1.1(KOMP)Vlcg/Ucd

 MP:0011262 abnormal branchial arch mesenchyme morphology "any structural anomaly in the primordial embryonic connective tissue associated with the branchial arches, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to facial and cranial nerve-associated structures" [ISBN:0-683-40008-8, MGI:csmith]
Show

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0012523 abnormal upper lip morphology "any structural anomaly of the muscular fold forming the superior border of the mouth" [MGI:anna]
Show

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0012760 decreased cranial neural crest cell proliferation "reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division" [MGI:anna]
Show

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0030065 face hypoplasia "underdevelopment or reduced size of the face, usually due to a reduced number of cells" [MGI:anna]
Show

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000022141 Nipbl / Q6KCD5 / Nipped-B-like protein / Q6KC79* / NIPBL, cohesin loading factor*  / reaction / complex
 ENSMUSG00000029202 Pds5a / PDS5 cohesin associated factor A / Q29RF7*  / reaction / complex
 ENSMUSG00000041408 Wapl / Q65Z40 / WAPL cohesin release factor / Q7Z5K2*  / reaction / complex
 ENSMUSG00000034021 Pds5b / Q4VA53 / Mus musculus PDS5 cohesin associated factor B (Pds5b), transcript variant 2, mRNA. / Q9NTI5* / PDS5 cohesin associated factor B*  / complex / reaction
 ENSMUSG00000031858 Mau2 / Q9D2X5 / MAU2 chromatid cohesion factor homolog / Q9Y6X3* / MAU2 sister chromatid cohesion factor*  / reaction






 

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