ENSMUSG00000006270


Mus musculus

Features
Gene ID: ENSMUSG00000006270
  
Biological name :Vax1
  
Synonyms : Q2NKI2 / Vax1 / ventral anterior homeobox 1
  
Possible biological names infered from orthology : Q5SQQ9
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: D3
Gene start: 59166187
Gene end: 59170056
  
Corresponding Affymetrix probe sets: 10468783 (MoGene1.0st)   1421774_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000134642
NCBI entrez gene - 22326     See in Manteia.
MGI - MGI:1277163
RefSeq - NM_009501
RefSeq Peptide - NP_033527
swissprot - Q2NKI2
Ensembl - ENSMUSG00000006270
  

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
 vax1ENSDARG00000021916Danio rerio
 VAX1ENSGALG00000009261Gallus gallus
 VAX1ENSG00000148704Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Vax2 / Q9WTP9 / ventral anterior homeobox 2 / Q9UIW0*ENSMUSG0000003477746
En2 / P09066 / Homeobox protein engrailed-2 / P19622* / engrailed homeobox 2*ENSMUSG0000003909516
Noto / Q5TIS6 / Homeobox protein notochord / A8MTQ0* / notochord homeobox*ENSMUSG0000006830215
Emx1 / Q04742 / Homeobox protein EMX1 / Q04741* / empty spiracles homeobox 1*ENSMUSG0000003372615
En1 / P09065 / Homeobox protein engrailed-1 / Q05925* / engrailed homeobox 1*ENSMUSG0000005866514
Emx2 / Q04744 / Homeobox protein EMX2 / Q04743* / empty spiracles homeobox 2*ENSMUSG0000004396913


Protein motifs (from Interpro)
Interpro ID Name
 IPR000047  Helix-turn-helix motif
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site
 IPR033020  Ventral anterior homeobox 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0001764 neuron migration IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IMP
 biological_processGO:0007406 negative regulation of neuroblast proliferation IMP
 biological_processGO:0007411 axon guidance IMP
 biological_processGO:0007417 central nervous system development IMP
 biological_processGO:0007420 brain development IMP
 biological_processGO:0030154 cell differentiation IMP
 biological_processGO:0035914 skeletal muscle cell differentiation IMP
 biological_processGO:0043010 camera-type eye development IGI
 biological_processGO:0060021 roof of mouth development IMP
 cellular_componentGO:0005634 nucleus IDA
 molecular_functionGO:0001162 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IMP
 molecular_functionGO:0031490 chromatin DNA binding IDA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Vax1tm1Grl/Vax1tm1Grl,Vax2tm1Grl/Vax2tm1Grl
Genetic Background: involves: 129S1/Sv

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0000780 abnormal corpus callosum morphology "malformation or absence of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 MP:0000837 abnormal hypothalamus morphology "any malformation or absence of the ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle; this region regulates the autonomic nervous system via hormone production and release" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0000934 abnormal telencephalon development "malformed or incomplete differentiation of the anterior division of the embryonic prosencephalon " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
Show

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 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]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 MP:0001330 abnormal optic nerve morphology "malformation, misprojection or atrophy in the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Vax1tm1Grl/Vax1tm1Grl,Vax2tm1Grl/Vax2tm1Grl
Genetic Background: involves: 129S1/Sv

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0001332 abnormal optic nerve innervation "misprojection or aberrant target finding of the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Vax1tm1Grl/Vax1tm1Grl,Vax2tm1Grl/Vax2tm1Grl
Genetic Background: involves: 129S1/Sv

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 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: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 MP:0002653 abnormal ependyma morphology "malformation or absence of the cellular membrane that lines the brain ventricles and the central canal of the spinal cord" [il:Ira Lu , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 MP:0002739 abnormal olfactory bulb development "abnormality in the progression of the formation of the olfactory bulb" [J:65380, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 MP:0002961 abnormal axon guidance "defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 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: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 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"]
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Allelic Composition: Vax1tm1Grl/Vax1tm1Grl,Vax2tm1Grl/Vax2tm1Grl
Genetic Background: involves: 129S1/Sv

 MP:0004275 abnormal postnatal subventricular zone morphology "any structural anomaly of the mitotically active layer of cells surrounding the brain ventricles in the adult that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:12637172]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 MP:0004277 abnormal lateral ganglionic eminence morphology "any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the striatum; however, neocortex, thalamus, septum and olfactory bulb neurons are also partly derived from the LGE" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:12637172]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 MP:0004279 abnormal rostral migratory stream morphology "any structural anomaly of the transient structure formed by neurons migrating from the subventricular zone into the olfactory bulbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 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: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0005262 coloboma "anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Vax1tm1Grl/Vax1tm1Grl
Genetic Background: involves: 129S1/Sv

Allelic Composition: Vax1tm1Grl/Vax1tm1Grl,Vax2tm1Grl/Vax2tm1Grl
Genetic Background: involves: 129S1/Sv

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0008225 abnormal anterior commissure morphology "any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0009771 absent optic chiasm "absence of the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0009937 abnormal neuron differentiation "abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

 MP:0011084 partial lethality at weaning "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age" [MGI:csmith]
Show

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0011088 partial neonatal 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 within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Nhlh1tm1Thbr/Nhlh1tm1Thbr,Nhlh2tm1Thbr/Nhlh2tm1Thbr
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Vax1tm1Grl/Vax1tm1Grl,Vax2tm1Grl/Vax2tm1Grl
Genetic Background: involves: 129S1/Sv

 MP:0011090 partial perinatal 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 within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0030137 abnormal upper incisor morphology "any structural anomaly of the upper set of long teeth that are the most anterior and prominent in the jaw" [MGI:anna]
Show

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

 MP:0030476 fused upper incisors "union of two adjacent incisor teeth in the maxilla" [MGI:anna]
Show

Allelic Composition: Vax1tm1Pgr/Vax1tm1Pgr
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * NMRI)

  


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






 

0 s.

 
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