ENSMUSG00000027833


Mus musculus

Features
Gene ID: ENSMUSG00000027833
  
Biological name :Shox2
  
Synonyms : P70390 / short stature homeobox 2 / Shox2
  
Possible biological names infered from orthology : O60902
  
Species: Mus musculus
  
Chr. number: 3
Strand: -1
Band: E1
Gene start: 66971727
Gene end: 66981771
  
Corresponding Affymetrix probe sets: 10498568 (MoGene1.0st)   1420559_a_at (Mouse Genome 430 2.0 Array)   1438042_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000029422
Ensembl peptide - ENSMUSP00000124924
Ensembl peptide - ENSMUSP00000125031
Ensembl peptide - ENSMUSP00000141625
Ensembl peptide - ENSMUSP00000123838
NCBI entrez gene - 20429     See in Manteia.
MGI - MGI:1201673
RefSeq - XM_006501217
RefSeq - NM_001302357
RefSeq - NM_001302358
RefSeq - NM_001302359
RefSeq - NM_013665
RefSeq - XM_006501215
RefSeq - XM_006501216
RefSeq Peptide - NP_001289286
RefSeq Peptide - NP_001289287
RefSeq Peptide - NP_001289288
RefSeq Peptide - NP_038693
swissprot - P70390
swissprot - A0A0A6YWN6
swissprot - F6UTR6
swissprot - A0A140T8S9
Ensembl - ENSMUSG00000027833
  

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
 shox2ENSDARG00000075713Danio rerio
 SHOX2ENSG00000168779Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Otp / O09113 / Homeobox protein orthopedia / Q5XKR4* / orthopedia homeobox*ENSMUSG0000002168523
Esx1 / Q8N693* / ESX homeobox 1*ENSMUSG0000002344323
Rhox13 / F6YCR7 / Homeobox protein Rhox13 / Q8NHV9* / RHOXF1* / Rhox homeobox family member 1*ENSMUSG0000005019713


Protein motifs (from Interpro)
Interpro ID Name
 IPR000047  Helix-turn-helix motif
 IPR001356  Homeobox domain
 IPR003654  OAR domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0001649 osteoblast differentiation IMP
 biological_processGO:0002053 positive regulation of mesenchymal cell proliferation IMP
 biological_processGO:0002062 chondrocyte differentiation IMP
 biological_processGO:0002063 chondrocyte development IMP
 biological_processGO:0003170 heart valve development IMP
 biological_processGO:0003209 cardiac atrium morphogenesis IMP
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0030326 embryonic limb morphogenesis IMP
 biological_processGO:0032330 regulation of chondrocyte differentiation IMP
 biological_processGO:0035115 embryonic forelimb morphogenesis IMP
 biological_processGO:0045880 positive regulation of smoothened signaling pathway IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0048557 embryonic digestive tract morphogenesis IMP
 biological_processGO:0048598 embryonic morphogenesis IMP
 biological_processGO:0048743 positive regulation of skeletal muscle fiber development IMP
 biological_processGO:0050772 positive regulation of axonogenesis IMP
 biological_processGO:0060272 embryonic skeletal joint morphogenesis IMP
 biological_processGO:0060351 cartilage development involved in endochondral bone morphogenesis IMP
 biological_processGO:0060415 muscle tissue morphogenesis IMP
 biological_processGO:2000172 regulation of branching morphogenesis of a nerve IMP
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IC
 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:0000164 abnormal cartilage development "anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Hsd11b1tm1Yko/Hsd11b1tm1Yko
Genetic Background: B6.129P2(Cg)-Hsd11b1tm1Yko

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Rpl38Tss/Rpl38+
Genetic Background: either: (involves: A/J * BALB/cMs) or (involves: BALB/cMs * C57BL/6J)

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hsd11b1tm1Yko/Hsd11b1tm1Yko
Genetic Background: B6.129P2(Cg)-Hsd11b1tm1Yko

 MP:0001636 irregular heartbeat "uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]
Show

Allelic Composition: Etv2tm1Dlim/Etv2tm2.1Dlim,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
Show

Allelic Composition: Rpl38Tss/Rpl38+
Genetic Background: either: (involves: A/J * BALB/cMs) or (involves: BALB/cMs * C57BL/6J)

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002115 abnormal skeleton extremities morphology "abnormal development of limb, foot or tail bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003055 abnormal epiphyseal plate morphology "malformed or absent cartilagenous center of ossification on the long bones permitting growth of the bone in both directions during development" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003228 abnormal sinus venosus "malformation in the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite; in the adult this becomes the portion of the right atrium known as the sinus of the vena cava" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
Show

Allelic Composition: Rpl38Tss/Rpl38+
Genetic Background: either: (involves: A/J * BALB/cMs) or (involves: BALB/cMs * C57BL/6J)

 MP:0003633 abnormal nervous system physiology 
Show

Allelic Composition: Shox2tm1.1(cre)Oki/Shox2+,Tg(CAG-Bgeo/GFP)21Lbe/0,Vsx2tm1(DTA)Kash/Vsx2+
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6J

Allelic Composition: Mapttm2Arbr/Mapt+,Shox2tm1.1(cre)Oki/Shox2+,Slc17a6tm1.1Thna/Slc17a6tm1.2Edw
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

Allelic Composition: Gt(ROSA)26Sortm39.1(CAG-hop/EYFP)Hze/Gt(ROSA)26Sor+,Shox2tm1.1(cre)Oki/Shox2+
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6

 MP:0003854 abnormal forelimb stylopod morphology 
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003856 abnormal hindlimb stylopod morphology 
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003857 abnormal hindlimb zeugopod morphology 
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004115 abnormal sinoatrial node morphology "structural anomaly in the small mass of modified cardiac muscle fibers located at the junction of the superior vena cava and the right atruim that is the source of contraction impulses for the heart" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pappa2tm1.1Jkcs/Pappa2tm1.1Jkcs
Genetic Background: involves: BALB/cJ * C57BL/6

Allelic Composition: Shox2tm1Ddu/Shox2tm3.1(cre)Ypc
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6

Allelic Composition: Shox2tm1Ypc/Shox2tm1Ypc
Genetic Background: involves: 129X1/SvJ

 MP:0004349 absent femur "missing the long bone of the thigh" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004352 absent humerus "missing one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004358 bowed tibia "increased curvature of the medial and larger of the two bones of the lower leg" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
Show

Allelic Composition: Etv2tm1Dlim/Etv2tm2.1Dlim,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Etv2tm1Dlim/Etv2tm2.1Dlim,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

 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: Shox2tm1.1(cre)Oki/Shox2+,Tg(CAG-Bgeo/GFP)21Lbe/0,Vsx2tm1(DTA)Kash/Vsx2+
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6J

 MP:0009655 abnormal secondary palate development "any anomaly in the formation of the part of the palate that is formed during embryonic development when palatal projections from the inner part of the maxillary processes emerge, extend and elevate into a horizontal position above the tongue" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", PMID:16942766]
Show

Allelic Composition: Hsd11b1tm1Yko/Hsd11b1tm1Yko
Genetic Background: B6.129P2(Cg)-Hsd11b1tm1Yko

 MP:0009674 decreased birth weight "reduction in average weight at birth compared to controls" [RGD:cur "Rat Genome Database submission"]
Show

Allelic Composition: Etv2tm1Dlim/Etv2tm2.1Dlim,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Etv2tm1Dlim/Etv2tm2.1Dlim,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

 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: Hsd11b1tm1Yko/Hsd11b1tm1Yko
Genetic Background: B6.129P2(Cg)-Hsd11b1tm1Yko

 MP:0009890 cleft secondary palate "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722]
Show

Allelic Composition: Hsd11b1tm1Yko/Hsd11b1tm1Yko
Genetic Background: B6.129P2(Cg)-Hsd11b1tm1Yko

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Etv2tm1Dlim/Etv2tm2.1Dlim,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Etv2tm1Dlim/Etv2tm2.1Dlim,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Rpl38Tss/Rpl38+
Genetic Background: either: (involves: A/J * BALB/cMs) or (involves: BALB/cMs * C57BL/6J)

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Pappa2tm1.1Jkcs/Pappa2tm1.1Jkcs
Genetic Background: involves: BALB/cJ * C57BL/6

Allelic Composition: Shox2tm1Ddu/Shox2tm3.1(cre)Ypc
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Hsd11b1tm1Yko/Hsd11b1tm1Yko
Genetic Background: B6.129P2(Cg)-Hsd11b1tm1Yko

Allelic Composition: Shox2tm3.1(cre)Ypc/Shox2tm4.1Ypc
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6

Allelic Composition: Shox2tm4.1Ypc/Shox2tm4.1Ypc
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Shox2tm1Ddu/Shox2tm3.1(cre)Ypc
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6

 MP:0011109 partial lethality throughout fetal growth and development "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Shox2tm4.1Ypc/Shox2tm4.1Ypc
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0030330 abnormal temporomandibular joint disk morphology "any structural anomaly of the oval, biconcave, avascular fibrocartilaginous structure located between the condyle of the mandible and the mandibular (glenoid) fossa of the temporal bone; the disk provides the gliding surface for the mandibular condyle, resulting in smooth joint movement; it splits the temporomandibular joint into two synovial joint cavities, each lined by a synovial membrane, and separates translational and rotational motion" [http://teachmeanatomy.info/head/joints/temporomandibular/, https://radiopaedia.org/articles/temporomandibular-joint-disc, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147437/]
Show

Allelic Composition: Etv2tm1Dlim/Etv2tm2.1Dlim,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

  


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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

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