ENSMUSG00000030103


Mus musculus

Features
Gene ID: ENSMUSG00000030103
  
Biological name :Bhlhe40
  
Synonyms : Bhlhe40 / Class E basic helix-loop-helix protein 40 / O35185
  
Possible biological names infered from orthology : basic helix-loop-helix family member e40 / O14503
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: E2
Gene start: 108660629
Gene end: 108666925
  
Corresponding Affymetrix probe sets: 10540472 (MoGene1.0st)   1418025_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000132157
Ensembl peptide - ENSMUSP00000032194
NCBI entrez gene - 20893     See in Manteia.
MGI - MGI:1097714
RefSeq - NM_011498
RefSeq Peptide - NP_035628
swissprot - E9Q2C3
swissprot - O35185
swissprot - Q542A5
Ensembl - ENSMUSG00000030103
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bhlhe40ENSDARG00000004060Danio rerio
 BHLHE40ENSGALG00000008308Gallus gallus
 O14503ENSG00000134107Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q99PV5 / Bhlhe41 / Class E basic helix-loop-helix protein 41 / Q9C0J9* / basic helix-loop-helix family member e41*ENSMUSG0000003025641


Protein motifs (from Interpro)
Interpro ID Name
 IPR003650  Orange domain
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007623 circadian rhythm TAS
 biological_processGO:0009416 response to light stimulus IEP
 biological_processGO:0032922 circadian regulation of gene expression IEA
 biological_processGO:0043153 entrainment of circadian clock by photoperiod IMP
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0048511 rhythmic process IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016604 nuclear body IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding IDA
 molecular_functionGO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding IEA
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
 molecular_functionGO:0003714 transcription corepressor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043425 bHLH transcription factor binding IEA
 molecular_functionGO:0043426 MRF binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IDA
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0070888 E-box binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000062 increased bone density "increased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0000693 spleen hyperplasia "increased cell number in the spleen" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33401]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0000708 thymus hyperplasia "increased cell number in the thymus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33401]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0000716 abnormal immune system cell morphology "anomalous structure, development, or number of immune cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001790 abnormal immune system physiology "deviation from the normal function of the immune system " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001828 abnormal T cell activation "anomaly in the process of producing effector T cells from naive T cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0002425 altered susceptibility to autoimmune disorder "a change in the likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0002497 increased IgE "greater than normal immunoglobulin class E level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0002590 increased mean corpuscular volume "greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0002906 susceptibility to pharmacologically induced seizures "inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:69504]
Show

Allelic Composition: Apaf1fog/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C3H/HeJ * NMRI

 MP:0003960 increased lean body mass "more than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0004794 increased anti-nuclear antigen antibody level "elevated level of antibodies to nuclear antigens present in the sera" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005090 increased double-negative T cells count "greater than expected numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005092 decreased double-positive T cell count "less than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005095 decreased T cell proliferation "reduced clonal expansion of naive T cells in response to stimuli" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005325 abnormal glomerulus "anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005463 abnormal CD4+ T cell physiology "anomalous response of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005561 increased mean corpuscular hemoglobin "greater than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0008074 increased CD4-positive T cell number "greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0008076 abnormal CD4-positive T cell differentiation "atypical production of or inability to produce the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0008078 increased CD8-positive T cell number "greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0008102 lymph node hyperplasia "overdevelopment or increased size, usually due to increased cell number, in the lymph nodes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0008478 increased spleen white pulp amount "increase in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0008481 increased spleen germinal center number "greater number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0008499 increased IgG1 level "greater than normal immunoglobulin class G1 level" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0008522 abnormal lymph node germinal center "any strucutral anomaly of the area of the lymph node secondary follicle where B cells are stimulated by antigens and helper T cells are stimulated to generate memory cells" [MESH:A10.549.400.500, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0008688 decreased interleukin-2 secretion "reduction in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes" [MESH:D12.644.276.374.465.502]
Show

Allelic Composition: Thrbtm1Df/Thrbtm1Df
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0010123 increased bone mineral content "elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0013278 decreased fasted circulating glucose level "reduction in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0013279 increased fasted circulating glucose level "increase in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0020467 abnormal circadian behavior "any anomaly in the specific behavior of an organism that recurs with a regularity of approximately 24 hours" [GO:0048512]
Show

Allelic Composition: Nr2e3tm1Dgen/Nr2e3tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Bhlhe40tm1Tan/Bhlhe40tm1Tan,Bhlhe41tm1Mjro/Bhlhe41+
Genetic Background: B6.129-Bhlhe40tm1Tan Bhlhe41tm1Mjro

Allelic Composition: Bhlhe40tm1Tan/Bhlhe40+,Bhlhe41tm1Mjro/Bhlhe41tm1Mjro
Genetic Background: B6.129-Bhlhe40tm1Tan Bhlhe41tm1Mjro

 MP:0020475 delayed circadian behavior phase "decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset)" [MGI:smb]
Show

Allelic Composition: Nr2e3tm1Dgen/Nr2e3tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Bhlhe40tm1Tan/Bhlhe40tm1Tan
Genetic Background: B6.129-Bhlhe40tm1Tan

Allelic Composition: Bhlhe40tm1Tan/Bhlhe40tm1Tan,Bhlhe41tm1Mjro/Bhlhe41+
Genetic Background: B6.129-Bhlhe40tm1Tan Bhlhe41tm1Mjro

Allelic Composition: Bhlhe40tm1Tan/Bhlhe40+,Bhlhe41tm1Mjro/Bhlhe41tm1Mjro
Genetic Background: B6.129-Bhlhe40tm1Tan Bhlhe41tm1Mjro

  


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






 

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