Manteia

ENSMUSG00000021239

Mus musculus

Features

Gene ID:	ENSMUSG00000021239

Biological name :	Vsx2

Synonyms :	Q61412 / visual system homeobox 2 / Vsx2

Possible biological names infered from orthology :	P58304

Species:	Mus musculus

Chr. number:	12
Strand:	1
Band:	D1
Gene start:	84569762
Gene end:	84595457

Corresponding Affymetrix probe sets:	10397257 (MoGene1.0st) 1419628_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000021665 Ensembl peptide - ENSMUSP00000131009 NCBI entrez gene - 12677 See in Manteia. MGI - MGI:88401 RefSeq - NM_007701 RefSeq - NM_001301427 RefSeq Peptide - NP_001288356 RefSeq Peptide - NP_031727 swissprot - Q61412 swissprot - Q6PDC1 swissprot - Q80WF9 Ensembl - ENSMUSG00000021239

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 name	ID	Species
VSX2	ENSGALG00000033517	Gallus gallus
VSX2	ENSG00000119614	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Vsx1 / Q91V10 / visual system homeobox 1 / Q9NZR4*	ENSMUSG00000033080	39
Alx4 / O35137 / Homeobox protein aristaless-like 4 / Q9H161* / ALX homeobox 4*	ENSMUSG00000040310	23
Arx / O35085 / Homeobox protein ARX / Q96QS3* / aristaless related homeobox*	ENSMUSG00000035277	23
Rax / O35602 / Retinal homeobox protein Rx / Q9Y2V3* / retina and anterior neural fold homeobox*	ENSMUSG00000024518	23
Uncx / O08934 / UNC homeobox / A6NJT0*	ENSMUSG00000029546	20
Alx1 / Q8C8B0 / ALX homeobox protein 1 / Q15699* / ALX homeobox 1*	ENSMUSG00000036602	19
Prrxl1 / Q8BYH0 / paired related homeobox protein-like 1 / DRGX* / A6NNA5* / dorsal root ganglia homeobox*	ENSMUSG00000041730	18
O35690 / Phox2b / Paired mesoderm homeobox protein 2B / Q99453* / paired like homeobox 2b*	ENSMUSG00000012520	17
Alx3 / O70137 / Homeobox protein aristaless-like 3 / O95076* / ALX homeobox 3*	ENSMUSG00000014603	17
Phox2a / Q62066 / Paired mesoderm homeobox protein 2A / O14813* / paired like homeobox 2a*	ENSMUSG00000007946	17
Isx / A1A546 / intestine specific homeobox / Q2M1V0*	ENSMUSG00000031621	15

Protein motifs (from Interpro)

Interpro ID	Name
IPR001356	Homeobox domain
IPR003654	OAR domain
IPR009057	Homeobox-like domain superfamily
IPR017970	Homeobox, conserved site
IPR023339	CVC domain

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006351	transcription, DNA-templated	IEA
biological_process	GO:0006355	regulation of transcription, DNA-templated	IEA
biological_process	GO:0007275	multicellular organism development	IEA
biological_process	GO:0008284	positive regulation of cell proliferation	IMP
biological_process	GO:0008285	negative regulation of cell proliferation	IMP
biological_process	GO:0043010	camera-type eye development	IGI
biological_process	GO:0045165	cell fate commitment	IMP
biological_process	GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
biological_process	GO:0060040	retinal bipolar neuron differentiation	IMP
biological_process	GO:0060042	retina morphogenesis in camera-type eye	IMP
cellular_component	GO:0005622	intracellular	IDA
cellular_component	GO:0005634	nucleus	IEA
cellular_component	GO:0005737	cytoplasm	IDA
molecular_function	GO:0003677	DNA binding	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0043565	sequence-specific DNA binding	IEA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000313	abnormal cell death	"anomalous cessation of function at the cellular level" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Enah^tm1Fbg/Enah^tm1Fbg,Evl^tm1Fbg/Evl^tm1Fbg,Vasp^tm1Ref/Vasp^tm1Ref Genetic Background: involves: 129 * BALB/c * C57BL/6
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: Enah^tm1Fbg/Enah^tm1Fbg,Evl^tm1Fbg/Evl^tm1Fbg,Vasp^tm1Ref/Vasp^tm1Ref Genetic Background: involves: 129 * BALB/c * C57BL/6 Allelic Composition: Vsx2^or-2J/Vsx2^or-2J Genetic Background: NOR2/LtDn-Vsx2^or-2J/J Allelic Composition: Vsx2^or/Vsx2^or Genetic Background: involves: C57BL/Gr
MP:0001297	microphthalmia	"reduced average size of the eyes" [J:18048]	Show Allelic Composition: Gli2^tm1Alj/Gli2^tm1Alj,Gli3^Xt-J/Gli3^Xt-J Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * Swiss Webster Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv Allelic Composition: Vsx2^or-2J/Vsx2^or-2J Genetic Background: NOR2/LtDn-Vsx2^or-2J/J Allelic Composition: Vsx2^or/Vsx2^or Genetic Background: involves: C57BL/Gr Allelic Composition: Vsx2^tm1.1Itl/Vsx2^tm1.1Itl Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: involves: 129S1/Sv Allelic Composition: Vsx2^or-J/Vsx2^tm1.1Eml Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Lat^tm4Mal/Lat^tm4Mal,Tg(LckF505)3073Rmp/? Genetic Background:* involves: 129P2/OlaHsd * C57BL/6 * DBA/2
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: Enah^tm1Fbg/Enah^tm1Fbg,Evl^tm1Fbg/Evl^tm1Fbg,Vasp^tm1Ref/Vasp^tm1Ref Genetic Background: involves: 129 * BALB/c * C57BL/6 Allelic Composition: Vsx2^tm1.1Itl/Vsx2^tm1.1Itl Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: involves: 129S1/Sv
MP:0001325	abnormal retina morphology	"structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: involves: 129S1/Sv
MP:0001328	disorganized retinal layers	"delaminated or mispositioned sheets of cells comprising the optic part of the retina" [J:33400]	Show Allelic Composition: Gli2^tm1Alj/Gli2^tm1Alj,Gli3^Xt-J/Gli3^Xt-J Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * Swiss Webster Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv
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: Vsx2^or/Vsx2^or Genetic Background: involves: C57BL/Gr
MP:0001333	absent optic nerve	"absence 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: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv Allelic Composition: Vsx2^or/Vsx2^or Genetic Background: involves: C57BL/Gr
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: Vsx2^or-2J/Vsx2^or-2J Genetic Background: NOR2/LtDn-Vsx2^or-2J/J
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: Vsx2^or-2J/Vsx2^or-2J Genetic Background: NOR2/LtDn-Vsx2^or-2J/J
MP:0001929	abnormal gametogenesis	"defective formation or differentiation of germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:42324]	Show Allelic Composition: Fas^lpr/Fas^lpr,Raf1^tm1Bacc/Raf1^tm1Bacc Genetic Background: involves: 129/SvHsd * 129P2/OlaHsd * C57BL/6 * MRL
MP:0002092	abnormal eye morphology	"abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Vsx2^tm1.1Itl/Vsx2^tm1.1Itl Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Mitf^Mi/Mitf⁺,Vsx2^or-J/Vsx2^or-J Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Mitf^Mi/Mitf⁺,Vsx2^tm1.1Itl/Vsx2^tm1.1Itl Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac Allelic Composition: Mitf^Mi/Mitf⁺,Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Cdkn1b^tm1Mlf/Cdkn1b⁺,Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Genetic Background: involves: 129 * C57BL/6
MP:0002697	abnormal eye size	"anomalous bulk of the organ of vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Atp2a2^tm1Fwuy/Atp2a2^tm1Fwuy Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss Allelic Composition: Vsx2^or-J/Vsx2^or-J,Modor2^CASA/Rk/? Genetic Background: involves: 129S1/Sv * CASA/Rk Allelic Composition: Vsx2^or-J/Vsx2^or-J,Modor3^CASA/Rk/? Genetic Background: involves: 129S1/Sv * CASA/Rk Allelic Composition: Mitf^Mi/Mitf⁺,Vsx2^or-J/Vsx2^or-J Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Mitf^Mi/Mitf⁺,Vsx2^tm1.1Itl/Vsx2^tm1.1Itl Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac Allelic Composition: Mitf^Mi/Mitf⁺,Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002699	abnormal vitreous body	"anomalies of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0003633	abnormal nervous system physiology		Show Allelic Composition: Grin1^tm1Rsp/Grin1^tm1Rsp,Tg(Slc6a3-icre)9075Gsc/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Shox2^{tm1.1(cre)Oki}/Shox2⁺,Tg(CAG-Bgeo/GFP)21Lbe/0,Vsx2^tm1(DTA)Kash/Vsx2⁺ Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6J
MP:0004045	abnormal cell cycle checkpoint function	"anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Vsx2^or/Vsx2^or Genetic Background: involves: C57BL/Gr Allelic Composition: Fign^fi/Fign^fi,Vsx2^or/Vsx2^or Genetic Background: involves: C57BL/Gr
MP:0004100	abnormal spinal cord interneuron morphology	"malformation or absence of neurons that exclusively interact with other neurons in the spinal cord" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Grin1^tm1Rsp/Grin1^tm1Rsp,Tg(Slc6a3-icre)9075Gsc/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv Allelic Composition: Vsx2^or/Vsx2^or Genetic Background: involves: C57BL/Gr
MP:0004269	abnormal optic cup morphology	"any structural anomaly of double walled stuctured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv
MP:0005103	abnormal retinal pigmentation	"anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Vsx2^tm1.1Itl/Vsx2^tm1.1Itl Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: involves: 129S1/Sv
MP:0005172	lack of eye pigmentation	"visual organs are devoid of coloring pigment in relation to control animals, usually resulting in a red or pink color" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]	Show Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv
MP:0005176	eyelids fail to open	"eyes remain shut throughout life" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]	Show Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv
MP:0005201	abnormal retinal pigment epithelium morphology	"anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Vsx2^tm1.1Itl/Vsx2^tm1.1Itl Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: involves: 129S1/Sv
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: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv Allelic Composition: Vsx2^or-2J/Vsx2^or-2J Genetic Background: NOR2/LtDn-Vsx2^or-2J/J
MP:0005547	abnormal Muller cell morphology	"anomalous structure of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Gli2^tm1Alj/Gli2^tm1Alj,Gli3^Xt-J/Gli3^Xt-J Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * Swiss Webster
MP:0006071	abnormal retinal progenitor morphology	"anomoly in the proliferation or differentiation of the cells that give rise to the various cells of the retina" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92622:]	Show Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv
MP:0008056	abnormal retinal ganglion cell morphology	"any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv
MP:0008453	decreased retinal rod cell number	"reduced number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]	Show Allelic Composition: Gli2^tm1Alj/Gli2^tm1Alj,Gli3^Xt-J/Gli3^Xt-J Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * Swiss Webster
MP:0008503	abnormal spinal cord gray matter morphology	"any structural anomaly of the regions of the spinal cord that are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Shox2^{tm1.1(cre)Oki}/Shox2⁺,Tg(CAG-Bgeo/GFP)21Lbe/0,Vsx2^tm1(DTA)Kash/Vsx2⁺ Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6J
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: Vsx2^or/Vsx2^or Genetic Background: involves: C57BL/Gr
MP:0009772	abnormal retinal development	"anomaly in any of the steps during embryogenesis that produce the nerve layer lining in the back of the eye which senses light, and creates impulses that travel through the optic nerve to the brain" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Vsx2^tm1.1Itl/Vsx2^tm1.1Itl Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: involves: 129S1/Sv
MP:0011087	complete neonatal lethality	"death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]	Show Allelic Composition: Grin1^tm1Rsp/Grin1^tm1Rsp,Tg(Slc6a3-icre)9075Gsc/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0011965	decreased total retina thickness	"decreased width of the retina through the center plane" [MGI:csmith]	Show Allelic Composition: Vsx2^tm1.1Itl/Vsx2^tm1.1Itl Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Vsx2^tm1.1Eml/Vsx2^tm1.1Eml Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: involves: 129S1/Sv
MP:0012534	abnormal optic fissure morphology	"any structural anomaly of the ventral groove formed by invagination of the optic cup and its stalk by vascular mesenchyme from which the hyaloid vessels develop; a transient gap in the ventral margin of the developing optic cup that eventually closes to complete the eye wall inferiorly and enclose the hyaloid vessels in a canal in the optic stalk" [MGI:anna]	Show Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv
MP:0012537	abnormal hyaloid artery morphology	"any structural anomaly of the artery which arises from the dorsal ophthalmic artery and enters the eye cup through the optic (choroid) fissure; the hyaloid artery is contained within the optic stalk of the eye, extends from the optic disc through the vitreous humor to the lens, and serves to supply nutrients to the developing lens in the growing fetus; it usually regresses (around 2 weeks after birth in mice and before birth in humans), with its proximal portion remaining as the central artery of the retina; regression of the hyaloid artery leaves a clear central zone through the vitreous humor, called the hyaloid canal or Cloquet s canal" [MGI:anna]	Show Allelic Composition: Vsx2^or-J/Vsx2^or-J Genetic Background: 129S1/Sv
MP:0013447	Harderian gland hypertrophy	"increase in the bulk size, due to cell enlargement, of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane" [MGI:Anna]	Show Allelic Composition: Vsx2^or/Vsx2^or Genetic Background: involves: C57BL/Gr
MP:0013454	lacrimal gland hypertrophy	"increase in the bulk size of any of the paired glands that secrete the aqueous layer of the tear film due to cell enlargement " [MGI:Anna]	Show Allelic Composition: Vsx2^or/Vsx2^or Genetic Background: involves: C57BL/Gr

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

1 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr