ENSMUSG00000024518


Mus musculus

Features
Gene ID: ENSMUSG00000024518
  
Biological name :Rax
  
Synonyms : O35602 / Rax / Retinal homeobox protein Rx
  
Possible biological names infered from orthology : Q9Y2V3 / retina and anterior neural fold homeobox
  
Species: Mus musculus
  
Chr. number: 18
Strand: -1
Band: E1
Gene start: 65934639
Gene end: 65939089
  
Corresponding Affymetrix probe sets: 10459471 (MoGene1.0st)   1418558_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025396
NCBI entrez gene - 19434     See in Manteia.
MGI - MGI:109632
RefSeq - NM_013833
RefSeq Peptide - NP_038861
swissprot - O35602
Ensembl - ENSMUSG00000024518
  

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
 rx3ENSDARG00000052893Danio rerio
 RAXENSGALG00000033279Gallus gallus
 RAXENSG00000134438Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Arx / O35085 / Homeobox protein ARX / Q96QS3* / aristaless related homeobox*ENSMUSG0000003527730
Alx4 / O35137 / Homeobox protein aristaless-like 4 / Q9H161* / ALX homeobox 4*ENSMUSG0000004031027
Vsx2 / Q61412 / visual system homeobox 2 / P58304*ENSMUSG0000002123925
Uncx / O08934 / UNC homeobox / A6NJT0*ENSMUSG0000002954624
Alx3 / O70137 / Homeobox protein aristaless-like 3 / O95076* / ALX homeobox 3*ENSMUSG0000001460323
Alx1 / Q8C8B0 / ALX homeobox protein 1 / Q15699* / ALX homeobox 1*ENSMUSG0000003660223
Vsx1 / Q91V10 / visual system homeobox 1 / Q9NZR4*ENSMUSG0000003308021
Prrxl1 / Q8BYH0 / paired related homeobox protein-like 1 / DRGX* / A6NNA5* / dorsal root ganglia homeobox*ENSMUSG0000004173020
Phox2a / Q62066 / Paired mesoderm homeobox protein 2A / O14813* / paired like homeobox 2a*ENSMUSG0000000794620
Isx / A1A546 / intestine specific homeobox / Q2M1V0*ENSMUSG0000003162119
O35690 / Phox2b / Paired mesoderm homeobox protein 2B / Q99453* / paired like homeobox 2b*ENSMUSG0000001252019


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR003654  OAR domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007389 pattern specification process IMP
 biological_processGO:0007420 brain development IMP
 biological_processGO:0021854 hypothalamus development IMP
 biological_processGO:0043010 camera-type eye development IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0060173 limb development IMP
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 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: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Raxtm1.2Lwd/Raxtm1.2Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

 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: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

 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: Smpd3fro/Smpd3fro
Genetic Background: C3H.Cg-Smpd3fro

 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: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Raxtm1Lwd/Raxtm1Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Raxtm1.2Lwd/Raxtm1.2Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Raxtm1Lwd/Raxtm1Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Raxtm1.2Lwd/Raxtm1.2Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Raxtm1.1Lwd/Raxtm1.1Lwd,Tg(rx3-icre)1Mjam/0
Genetic Background: involves: 129S1/Sv

Allelic Composition: Raxey1/Raxey1
Genetic Background: ZRDCT/Ch-Raxey1

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

Allelic Composition: Raxtm1.1(rTA,tetO-cre)Lan/?
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: ZRDCT/Ch-Raxey1

Allelic Composition: Raxtm1.1(rTA,tetO-cre)Lan/?
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 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]
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Allelic Composition: Myd88tm1Defr/Myd88tm1Defr,Commd10Tg(Vav1-icre)A2Kio/Commd10+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

 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: Myd88tm1Defr/Myd88tm1Defr,Commd10Tg(Vav1-icre)A2Kio/Commd10+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

 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: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0002081 perinatal lethality "death anytime between E18.5 and postnatal day 1 " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Raxtm1Lwd/Raxtm1Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Raxtm1.2Lwd/Raxtm1.2Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Raxey1/Raxey1
Genetic Background: ZRDCT/Ch-Raxey1

Allelic Composition: ey2/ey2+,Raxey1/Rax+
Genetic Background: involves: ZRDCT/Ch

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Raxtm1Lwd/Raxtm1Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002621 delayed neural tube closure "delayed fusion of the neuroepithelial layer in early development" [J:79790, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Raxtm1Lwd/Raxtm1Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Raxtm1.2Lwd/Raxtm1.2Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002984 retina hypoplasia "less than normal number of cells in the thin layer of neural tissue lining the back of the eyeball which contains visual receptors" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:80994]
Show

Allelic Composition: Lhx2tm1.1Lcar/Lhx2tm1.1Lcar,Tg(Lhx2-cre)1Lcar/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0003755 abnormal palate "anomaly in the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) " [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

 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: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Raxey1/Raxey1
Genetic Background: ZRDCT/Ch-Raxey1

 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: Raxey1/Raxey1
Genetic Background: ZRDCT/Ch-Raxey1

 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: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0008847 abnormal suprachiasmatic nucleus morphology "any structural anomaly of an ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm; it receives input from the retina and influences neuroendocrine function" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.186.211.730.317.357.342.625]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0011255 abnormal anterior visceral endoderm cell migration "any anomaly in the movement of the cells of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue" [MGI:csmith, PMID:17078044]
Show

Allelic Composition: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0012089 decreased midbrain size "size reduction or truncation 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: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0012136 absent forebrain "absence 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: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0020476 abnormal circardian behavior entrainment "anomaly in the synchronization of a circadian behavior to environmental time cues such as light" [GO:0009649]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: ZRDCT/Ch-Raxey1

 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: Abcc6Dyscalc1-DBA/2J/Abcc6Dyscalc1-DBA/2J
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Raxtm1Lwd/Raxtm1Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Raxtm1.2Lwd/Raxtm1.2Lwd
Genetic Background: involves: 129S1/Sv * C57BL/6

  


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






 

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