ENSMUSG00000038533


Mus musculus

Features
Gene ID: ENSMUSG00000038533
  
Biological name :Cbfa2t2
  
Synonyms : Cbfa2t2 / core-binding factor, runt domain, alpha subunit 2, translocated to, 2 (human) / O70374
  
Possible biological names infered from orthology : CBFA2/RUNX1 translocation partner 2 / O43439
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: H1
Gene start: 154436481
Gene end: 154539356
  
Corresponding Affymetrix probe sets: 10477543 (MoGene1.0st)   10521982 (MoGene1.0st)   1434757_at (Mouse Genome 430 2.0 Array)   1441615_at (Mouse Genome 430 2.0 Array)   1456416_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000116220
Ensembl peptide - ENSMUSP00000105347
Ensembl peptide - ENSMUSP00000118371
Ensembl peptide - ENSMUSP00000043087
Ensembl peptide - ENSMUSP00000096782
Ensembl peptide - ENSMUSP00000105346
NCBI entrez gene - 12396     See in Manteia.
MGI - MGI:1333833
RefSeq - XM_011239268
RefSeq - NM_001285446
RefSeq - NM_009823
RefSeq - NM_172860
RefSeq - XM_006498640
RefSeq - XM_006498641
RefSeq - XM_006498642
RefSeq Peptide - NP_001272375
RefSeq Peptide - NP_033953
RefSeq Peptide - NP_766448
swissprot - F6QMQ3
swissprot - F6WYU8
swissprot - A2AKD9
swissprot - O70374
swissprot - Q3UGB2
swissprot - A0A0R4J1D5
Ensembl - ENSMUSG00000038533
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cbfa2t2ENSDARG00000074337Danio rerio
 CBFA2T2ENSGALG00000003096Gallus gallus
 O43439ENSG00000078699Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q61909 / Runx1t1 / runt-related transcription factor 1; translocated to, 1 (cyclin D-related) / Q06455* / RUNX1 translocation partner 1*ENSMUSG0000000658662
O54972 / Cbfa2t3 / Protein CBFA2T3 / O75081* / CBFA2/RUNX1 translocation partner 3*ENSMUSG0000000636259
Deaf1 / Q9Z1T5 / Deformed epidermal autoregulatory factor 1 homolog / O75398* / DEAF1, transcription factor*ENSMUSG0000005888614


Protein motifs (from Interpro)
Interpro ID Name
 IPR002893  Zinc finger, MYND-type
 IPR003894  TAFH/NHR1
 IPR013289  CBFA2T family
 IPR013291  Myeloid transforming gene-related protein-1 (MTGR1)
 IPR014896  NHR2-like
 IPR037249  TAFH/NHR1 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IGI
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0010976 positive regulation of neuron projection development IEA
 biological_processGO:0010977 negative regulation of neuron projection development ISS
 biological_processGO:0030855 epithelial cell differentiation IMP
 biological_processGO:0045746 negative regulation of Notch signaling pathway IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0060575 intestinal epithelial cell differentiation IMP
 cellular_componentGO:0005634 nucleus IBA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003714 transcription corepressor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000242 impaired fertilization "defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronucei" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0000488 abnormal intestinal epithelium morphology "anomalous structure or development of the cellular avascular layer of the digestive tube passing from the stomach to the anus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Agttm1Afu/Agttm1Afu,Tg(Fabp4-Agt)2Mte/0
Genetic Background: involves: C57BL/6 * CBA * DBA/2 * ICR

 MP:0000496 abnormal small intestine morphology "structural or developmental anomalies of the intestinum tenue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Agttm1Afu/Agttm1Afu,Tg(Fabp4-Agt)2Mte/0
Genetic Background: involves: C57BL/6 * CBA * DBA/2 * ICR

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
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Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Agttm1Afu/Agttm1Afu,Tg(Fabp4-Agt)2Mte/0
Genetic Background: involves: C57BL/6 * CBA * DBA/2 * ICR

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Agttm1Afu/Agttm1Afu,Tg(Fabp4-Agt)2Mte/0
Genetic Background: involves: C57BL/6 * CBA * DBA/2 * ICR

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0002675 asthenozoospermia "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0002777 absent ovarian follicles "lack of the sac-like structures in the ovaries that surround the ova" [J:42612, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0003306 small intestinal inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the small intestine" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Agttm1Afu/Agttm1Afu,Tg(Fabp4-Agt)2Mte/0
Genetic Background: involves: C57BL/6 * CBA * DBA/2 * ICR

 MP:0003449 abnormal intestinal goblet cells "malformation of the unicellular mucin-secreting glands" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95282]
Show

Allelic Composition: Agttm1Afu/Agttm1Afu,Tg(Fabp4-Agt)2Mte/0
Genetic Background: involves: C57BL/6 * CBA * DBA/2 * ICR

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0004901 decreased male germ cell number "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0005158 ovary hypoplasia "underdeveloped ovaries, usually due to reduced cell number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:78931]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0008391 abnormal primordial germ cell morphology "any structural anomaly of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0008392 decreased primordial germ cell number "reduced number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0009431 decreased fetal weight "reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Agttm1Afu/Agttm1Afu,Tg(Fabp4-Agt)2Mte/0
Genetic Background: involves: C57BL/6 * CBA * DBA/2 * ICR

 MP:0010802 abnormal intestinal enteroendocrine cell morphology "any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Agttm1Afu/Agttm1Afu,Tg(Fabp4-Agt)2Mte/0
Genetic Background: involves: C57BL/6 * CBA * DBA/2 * ICR

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Agttm1Afu/Agttm1Afu,Tg(Fabp4-Agt)2Mte/0
Genetic Background: involves: C57BL/6 * CBA * DBA/2 * ICR

 MP:0012167 abnormal epigenetic regulation of gene expression "any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence" [GO:0040029]
Show

Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+
Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd

 MP:0013486 decreased Paneth cell number "fewer than normal numbers of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine" [MGI:Anna]
Show

Allelic Composition: Agttm1Afu/Agttm1Afu,Tg(Fabp4-Agt)2Mte/0
Genetic Background: involves: C57BL/6 * CBA * DBA/2 * ICR

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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