ENSMUSG00000046470


Mus musculus

Features
Gene ID: ENSMUSG00000046470
  
Biological name :Sox18
  
Synonyms : P43680 / Sox18 / Transcription factor SOX-18
  
Possible biological names infered from orthology : P35713 / SRY-box 18
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: H4
Gene start: 181669836
Gene end: 181671640
  
Corresponding Affymetrix probe sets: 10490731 (MoGene1.0st)   1449135_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000062759
NCBI entrez gene - 20672     See in Manteia.
MGI - MGI:103559
RefSeq - NM_009236
RefSeq Peptide - NP_033262
swissprot - P43680
Ensembl - ENSMUSG00000046470
  

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
 sox18ENSDARG00000058598Danio rerio
 SOX18ENSGALG00000034118Gallus gallus
 SOX18ENSG00000203883Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sox17 / Q61473 / Transcription factor SOX-17 / Q9H6I2* / SRY-box 17*ENSMUSG0000002590243
Sox7 / P40646 / SRY (sex determining region Y)-box 7 / Q9BT81* / SRY-box 7*ENSMUSG0000006306040
Sox9 / Q04887 / Transcription factor SOX-9 / P48436* / SRY-box 9*ENSMUSG0000000056727
Sox10 / Q04888 / Transcription factor SOX-10 / P56693* / SRY-box 10*ENSMUSG0000003300625
Sox8 / Q04886 / SRY (sex determining region Y)-box 8 / P57073* / SRY-box 8*ENSMUSG0000002417625
Sox3 / SRY-box 3 / P41225*ENSMUSG0000004517923
Sox1 / P53783 / Transcription factor SOX-1 / O00570* / SRY-box 1*ENSMUSG0000009601421
Sox11 / Q7M6Y2 / Transcription factor SOX-11 / P35716* / SRY-box 11*ENSMUSG0000006363220
Sox4 / Q06831 / Transcription factor SOX-4 / Q06945* / SRY-box 4*ENSMUSG0000007643120
Sox2 / SRY-box 2 / P48431*ENSMUSG0000007463719
Sox15 / P43267 / SRY (sex determining region Y)-box 15 / O60248* / SRY-box 15*ENSMUSG0000004128719
Sox12 / Q04890 / Transcription factor SOX-12 / O15370* / SRY-box 12*ENSMUSG0000005181718
Sox14 / Q04892 / Transcription factor SOX-14 / O95416* / SRY-box 14*ENSMUSG0000005374716
Sox21 / Q811W0 / Transcription factor SOX-21 / Q9Y651* / SRY-box 21*ENSMUSG0000006151715
Sry / Q05738 / sex determining region of Chr Y / Q05066* / sex determining region Y*ENSMUSG0000006903615


Protein motifs (from Interpro)
Interpro ID Name
 IPR009071  High mobility group box domain
 IPR021934  Sox, C-terminal
 IPR033392  Sox 7/17/18, central domain
 IPR036910  High mobility group box domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001568 blood vessel development IMP
 biological_processGO:0001570 vasculogenesis IGI
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001942 hair follicle development IMP
 biological_processGO:0001944 vasculature development IMP
 biological_processGO:0001945 lymph vessel development IMP
 biological_processGO:0001946 lymphangiogenesis IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0022405 hair cycle process IEA
 biological_processGO:0035050 embryonic heart tube development IGI
 biological_processGO:0042789 mRNA transcription by RNA polymerase II IEA
 biological_processGO:0043534 blood vessel endothelial cell migration IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048469 cell maturation IDA
 biological_processGO:0048866 stem cell fate specification IDA
 biological_processGO:0060214 endocardium formation IGI
 biological_processGO:0060836 lymphatic endothelial cell differentiation IMP
 biological_processGO:0060956 endocardial cell differentiation IGI
 biological_processGO:0061028 establishment of endothelial barrier IEA
 biological_processGO:0072091 regulation of stem cell proliferation IDA
 cellular_componentGO:0000790 nuclear chromatin IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0044798 nuclear transcription factor complex IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000377 abnormal hair follicle "malformed invagination of the epidermis from which the hair shaft develops" [J:65031]
Show

Allelic Composition: Dnmt3ltm1Scot/Dnmt3ltm1Scot
Genetic Background: C57BL/6-Dnmt3ltm1Scot

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0000400 abnormal awl hair "anomalies of truncal hairs that contain two or more air cells in the medulla" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0000402 abnormal zigzag hairs "anomalies of truncal hairs that contain one air cell in the medulla" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Dnmt3ltm1Scot/Dnmt3ltm1Scot
Genetic Background: C57BL/6-Dnmt3ltm1Scot

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
Show

Allelic Composition: Dnmt3ltm1Scot/Dnmt3ltm1Scot
Genetic Background: C57BL/6-Dnmt3ltm1Scot

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
Show

Allelic Composition: Ets2tm2Rgo/Ets2tm2Rgo
Genetic Background: involves: FVB/N

Allelic Composition: Sox18Ra/Sox18+
Genetic Background: Not Specified

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Sox18Ragl/Sox18+
Genetic Background: involves: 129P3/J * C57BL/6J

Allelic Composition: Sox18Ra-J/Sox18+
Genetic Background: C3H/HeSnJ

 MP:0000422 delayed hair appearance "late onset of the first appearance of the fur" [J:17792]
Show

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0000424 retarded hair growth "slow growth of the hair, appears at normal time" [J:5476]
Show

Allelic Composition: Dnmt3ltm1Scot/Dnmt3ltm1Scot
Genetic Background: C57BL/6-Dnmt3ltm1Scot

Allelic Composition: Sox18Ra-J/Sox18+
Genetic Background: C3H/HeSnJ

Allelic Composition: Sox18Ra/Sox18+
Genetic Background: involves: AG/Cam

 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: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Sox18Ra-J/Sox18Ra-J
Genetic Background: C3H/HeSnJ

 MP:0001270 distended abdomen "abdomen appears curved outward or swollen; can be due to skeletal axial defects, enlarged visceral organs or megacolon" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001282 short vibrissae "decreased length of the vibrissae" [J:30249]
Show

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Sox18Ra-J/Sox18+
Genetic Background: C3H/HeSnJ

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Sox18Ragl/Sox18+
Genetic Background: involves: 129P3/J * C57BL/6J

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
Show

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 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: Sox18Ra-Op/Sox18Ra-Op
Genetic Background: B6D2-Sox18Ra-Op/J

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
Show

Allelic Composition: Dnmt3ltm1Scot/Dnmt3ltm1Scot
Genetic Background: C57BL/6-Dnmt3ltm1Scot

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Sox18Ra-Op/Sox18Ra-Op
Genetic Background: B6D2-Sox18Ra-Op/J

Allelic Composition: Sox18Ragl/Sox18+
Genetic Background: involves: 129P3/J * C57BL/6J

Allelic Composition: Sox18Ragl/Sox18Ragl
Genetic Background: involves: 129P3/J * C57BL/6J

 MP:0001786 skin edema "accumulation of an excessive amount of fluid in the skin" [J:65039]
Show

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Sox18Ra-Op/Sox18Ra-Op
Genetic Background: B6D2-Sox18Ra-Op/J

Allelic Composition: Sox18tm1Koop/Sox18tm1Koop
Genetic Background: B6.129-Sox18tm1Koop

Allelic Composition: Sox18tm1Koop/Sox18+
Genetic Background: B6.129-Sox18tm1Koop

 MP:0001879 abnormal lymphatic vessel morphology "malformation of the network of vessels which carries lymph around the body" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ednrbs-9ThW/Ednrbs-9ThW
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: Sox18tm1Koop/Sox18tm1Koop
Genetic Background: B6.129-Sox18tm1Koop

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Sox18Ra-Op/Sox18Ra-Op
Genetic Background: B6D2-Sox18Ra-Op/J

 MP:0002073 abnormal hair growth "absence or reduced amount of hair or abnormal onset of hair growth cycle or development" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ets2tm2Rgo/Ets2tm2Rgo
Genetic Background: involves: FVB/N

Allelic Composition: Sox18tm1Koop/Sox18tm1Koop
Genetic Background: involves: 129/Sv * CD-1

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0002098 abnormal vibrissae morphology "irregular or unusual structure, appearance, or alignment of the vibrissae" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 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: Ptprcltng/Ptprctm1Mak,Tg(TcraTcrb)425Cbn/0
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6

 MP:0003719 abnormal pericyte morphology "malformation in the connective tissue cells that occurs around capillaries or other small blood vessels " [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sox18Ra-Op/Sox18Ra-Op
Genetic Background: B6D2-Sox18Ra-Op/J

 MP:0003815 nude "having no hair at some time during or throughout lifespan, generally referring to primary genetic hairlessness" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Sox18Ragl/Sox18Ragl
Genetic Background: involves: 129P3/J * C57BL/6J

Allelic Composition: Sox18Ra-J/Sox18Ra-J
Genetic Background: C3H/HeSnJ

 MP:0004003 abnormal vascular endothelial cell physiology "anomaly in the function of the cells that line the vasculature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sox18Ra-Op/Sox18Ra-Op
Genetic Background: B6D2-Sox18Ra-Op/J

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0005409 darkened coat color "amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreasesd when compared to wild-type agouti" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ets2tm2Rgo/Ets2tm2Rgo
Genetic Background: involves: FVB/N

Allelic Composition: Sox18Mhdadcc1/Sox18+
Genetic Background: C3HeB/FeJ-Sox18Mhdadcc1/Ieg

Allelic Composition: Sox18tm1Koop/Sox18tm1Koop
Genetic Background: involves: 129/Sv * CD-1

Allelic Composition: Sox18Ra/Sox18+
Genetic Background: Not Specified

Allelic Composition: Sox18Ra-J/Sox18+
Genetic Background: C3H/HeSnJ

 MP:0005566 decreased blood urea nitrogen level "low circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0006056 increased vascular endothelial cell number "greater than normal number of cells lining the vasculature" [smb:Susan M Bello, Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
Show

Allelic Composition: Sox18Ra-Op/Sox18Ra-Op
Genetic Background: B6D2-Sox18Ra-Op/J

 MP:0006363 absent auchene hairs "absence of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla" [ISBN:0-8493-8372-2 "Sundberg, JP (ed.) Handbook of Mouse Mutations with Skin and Hair Abnormalities", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sox18Ra/Sox18+
Genetic Background: Not Specified

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0008538 decreased zigzag hair amount "reduced number of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla" [ISBN:0-8493-8372-2 "Sundberg, JP (ed.) Handbook of Mouse Mutations with Skin and Hair Abnormalities", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0008817 hematoma "an abnormal localized accumulation of clotted or partially clotted blood in an organ or a soft tissue space as a result of localized hemorrhage" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sox18Ra-Op/Sox18Ra-Op
Genetic Background: B6D2-Sox18Ra-Op/J

 MP:0009003 abnormal vibrissa number "any anomaly in the number of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors" [MESH:A13.950, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Sox18Ra-J/Sox18Ra-J
Genetic Background: C3H/HeSnJ

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sox18Ra/Sox18+
Genetic Background: involves: AG/Cam

 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: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 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: Sox18Ragl/Sox18Ragl
Genetic Background: involves: 129P3/J * C57BL/6J

 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: Sox18Ra-J/Sox18Ra-J
Genetic Background: C3H/HeSnJ

 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: Sox18Ra-Op/Sox18+
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Ednrbs-48UThc/Ednrbs-48UThc
Genetic Background: involves: 101/Rl * C3H/Rl

 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: Sox18Ra-Op/Sox18Ra-Op
Genetic Background: B6D2-Sox18Ra-Op/J

Allelic Composition: Sox18tm1Koop/Sox18tm1Koop
Genetic Background: B6.129-Sox18tm1Koop

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Ednrbs-48UThc/Ednrbs-48UThc
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0011102 partial embryonic 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 embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Sox18Ragl/Sox18Ragl
Genetic Background: involves: 129P3/J * C57BL/6J

 MP:0011110 partial preweaning 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 between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Dnmt3ltm1Scot/Dnmt3ltm1Scot
Genetic Background: C57BL/6-Dnmt3ltm1Scot

 MP:0011748 intestinal fibrosis "formation of fibrous tissue in any part of the intestine as a result of repair or a reactive process" [MGI:csmith]
Show

Allelic Composition: Sox18Ra/Sox18+
Genetic Background: involves: AG/Cam

 MP:0012080 chylous ascites "the extravasation of milky triglyceride-rich chyle into the peritoneal cavity; often a secondary symptom of neoplasms" [MGI:csmith]
Show

Allelic Composition: Sox18Ra/Sox18+
Genetic Background: Not Specified

Allelic Composition: Sox18Ragl/Sox18+
Genetic Background: involves: 129P3/J * C57BL/6J

Allelic Composition: Sox18Ragl/Sox18Ragl
Genetic Background: involves: 129P3/J * C57BL/6J

Allelic Composition: Sox18Ra/Sox18+
Genetic Background: involves: AG/Cam

  


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






 

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