ENSMUSG00000038805


Mus musculus

Features
Gene ID: ENSMUSG00000038805
  
Biological name :Six3
  
Synonyms : Homeobox protein SIX3 / Q62233 / Six3
  
Possible biological names infered from orthology : O95343 / SIX homeobox 3
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: E4
Gene start: 85613608
Gene end: 85629302
  
Corresponding Affymetrix probe sets: 10447288 (MoGene1.0st)   1426637_a_at (Mouse Genome 430 2.0 Array)   1426638_at (Mouse Genome 430 2.0 Array)   1427523_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000125169
Ensembl peptide - ENSMUSP00000135312
Ensembl peptide - ENSMUSP00000135677
NCBI entrez gene - 20473     See in Manteia.
MGI - MGI:102764
RefSeq - XM_017317367
RefSeq - NM_011381
RefSeq Peptide - NP_035511
swissprot - Q52KB8
swissprot - Q62233
Ensembl - ENSMUSG00000038805
  

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
 six3aENSDARG00000058008Danio rerio
 six3bENSDARG00000054879Danio rerio
 SIX3ENSGALG00000032259Gallus gallus
 SIX3ENSG00000138083Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Six6 / Q9QZ28 / sine oculis-related homeobox 6 / O95475* / SIX homeobox 6*ENSMUSG0000002109960
Six2 / Q62232 / Homeobox protein SIX2 / Q9NPC8* / SIX homeobox 2*ENSMUSG0000002413442
Six1 / Q62231 / Homeobox protein SIX1 / Q15475* / SIX homeobox 1*ENSMUSG0000005136741
Six5 / P70178 / Homeobox protein SIX5 / Q8N196* / SIX homeobox 5*ENSMUSG0000004084139
Six4 / Q61321 / Homeobox protein SIX4 / Q9UIU6* / SIX homeobox 4*ENSMUSG0000003446036


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily
 IPR031701  Homeobox protein SIX1, N-terminal SD domain
 IPR032949  Homeobox protein SIX3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000060 protein import into nucleus, translocation IDA
 biological_processGO:0001654 eye development IEA
 biological_processGO:0002070 epithelial cell maturation IMP
 biological_processGO:0002088 lens development in camera-type eye IDA
 biological_processGO:0003404 optic vesicle morphogenesis IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006606 protein import into nucleus IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0009946 proximal/distal axis specification IDA
 biological_processGO:0014016 neuroblast differentiation IMP
 biological_processGO:0021536 diencephalon development IGI
 biological_processGO:0021537 telencephalon development IMP
 biological_processGO:0021797 forebrain anterior/posterior pattern specification IMP
 biological_processGO:0021798 forebrain dorsal/ventral pattern formation IEA
 biological_processGO:0021846 cell proliferation in forebrain IMP
 biological_processGO:0021978 telencephalon regionalization IMP
 biological_processGO:0021983 pituitary gland development IMP
 biological_processGO:0030178 negative regulation of Wnt signaling pathway IMP
 biological_processGO:0042127 regulation of cell proliferation IMP
 biological_processGO:0043010 camera-type eye development IGI
 biological_processGO:0045665 negative regulation of neuron differentiation IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0048512 circadian behavior IMP
 biological_processGO:0060235 lens induction in camera-type eye IMP
 biological_processGO:0061074 regulation of neural retina development IMP
 biological_processGO:0070306 lens fiber cell differentiation IDA
 biological_processGO:0097402 neuroblast migration IMP
 biological_processGO:1901987 regulation of cell cycle phase transition IDA
 biological_processGO:1902692 regulation of neuroblast proliferation IMP
 biological_processGO:1902742 apoptotic process involved in development IMP
 biological_processGO:1990086 lens fiber cell apoptotic process IDA
 biological_processGO:2000177 regulation of neural precursor cell proliferation IDA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
 molecular_functionGO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IDA
 molecular_functionGO:0001222 transcription corepressor binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
 molecular_functionGO:0003713 transcription coactivator activity IDA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042826 histone deacetylase binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000433 microcephaly "an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000787 abnormal telencephalon morphology "any malformation or absence of the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001288 abnormal lens induction "malformation of or failure to form the transparent, biconvex structure of the eye which is situated behind the iris and in front of the vitreous humor" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Six3tm2.1Gco/Six3tm2.1Gco
Genetic Background: involves: 129S1/Sv

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0001292 abnormal lens vesicle development "malformation or abnormal patterning of the lens vesicle of the eye" [J:49424]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001303 abnormal lens morphology "malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(Pax6-cre,GFP)1Pgr/0
Genetic Background: involves: 129S1/Sv * FVB/N

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(Pax6-cre,GFP)1Pgr/0
Genetic Background: involves: 129S1/Sv * FVB/N

 MP:0001306 small lens "reduced size of the transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(Pax6-cre,GFP)1Pgr/0
Genetic Background: involves: 129S1/Sv * FVB/N

 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]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002196 acallosal "absence of the commissural plate interconnecting the cortical hemispheres of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002840 abnormal lens fibers morphology "structural anomaly of the elongated cells of the crystalline lens of the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0003078 aphakia "absence of the crystalline lens of the eye" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0003232 abnormal forebrain development "anomaly in the formation or patterning of the anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [J:93081, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Six3tm2.1Gco/Six3tm2.1Gco
Genetic Background: involves: 129S1/Sv

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(Pax6-cre,GFP)1Pgr/0
Genetic Background: involves: 129S1/Sv * FVB/N

 MP:0003425 abnormal optic vesicle formation "anomalous formation of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94391]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0004268 abnormal optic stalk morphology "any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain" [ISBN:0-914294-08-3 "Gray s Anatomy"]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004872 absent nasal septum "absence of the structure that separates the two nasal cavities" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005157 holoprosencephaly "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]
Show

Allelic Composition: Cd19tm1(cre)Cgn/Cd19+,Gt(ROSA)26Sortm2(Cd74*)Awai/Gt(ROSA)26Sor+,Il10tm1Roer/Il10tm1Roer
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Six3tm4(cre/ERT2)Gco/Six3+
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005221 abnormal rostral-caudal axis patterning "anomaly in the development or formation of the axis that runs from the head to the tail of the body" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0005545 abnormal lens development "aberrant formation of the transparent structure of the eye responsible for focusing light rays" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0006197 ocular hypotelorism "the distance between the eyes is reduced" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006293 absent olfactory placodes "absence of the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes " [J:71787, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0006294 absent optic vesicle "absence of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop" [J:94391, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0008540 abnormal cerebrum morphology "any structural anomaly of the largest part of the brain, derived from the telencephalon, and is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities" [MESH:A08.186.211.730.885.287]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009887 abnormal palatal shelf fusion at midline "any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages" [PMID:16942766]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009903 abnormal medial nasal prominence morphology "any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010059 olfactory bulb hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the forebrain region that coordinates neuronal signaling involved in the perception of smell" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0012091 increased midbrain size "greater than average size of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes" [MGI:anna, MGI:csmith]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0012138 decreased forebrain size "size reduction or truncation of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)" [GO:0048853]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Six3tm2.1Gco/Six3tm2.1Gco
Genetic Background: involves: 129S1/Sv

 MP:0012257 absent philtrum "absence of the vertical groove normally found on the median line of the upper lip" [MGI:anna]
Show

Allelic Composition: Six3tm3.1Gco/Six3+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0013906 absent embryonic telencephalon "absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops" [MGI:Anna]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0030241 absent optic pit "absence of either or both of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles" [MGI:anna]
Show

Allelic Composition: Foxd2tm1Blh/Foxd2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

  


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






 

0 s.

 
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