ENSMUSG00000050248


Mus musculus

Features
Gene ID: ENSMUSG00000050248
  
Biological name :Evc2
  
Synonyms : Evc2 / Limbin / Q8K1G2
  
Possible biological names infered from orthology : EvC ciliary complex subunit 2 / Q86UK5
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: B3
Gene start: 37338499
Gene end: 37425055
  
Corresponding Affymetrix probe sets: 10521515 (MoGene1.0st)   1429447_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000055130
NCBI entrez gene - 68525     See in Manteia.
MGI - MGI:1915775
RefSeq - NM_145920
RefSeq - XM_006504082
RefSeq Peptide - NP_666032
swissprot - Q8K1G2
Ensembl - ENSMUSG00000050248
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 EVC2ENSGALG00000015029Gallus gallus
 EVC2ENSG00000173040Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR022076  Limbin
 IPR026501  Limbin/Ellis-van Creveld protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007224 smoothened signaling pathway IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060170 ciliary membrane TAS
 cellular_componentGO:0098797 plasma membrane protein complex IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Hedgehog on state
Activation of SMO


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000116 abnormal tooth development "anomalous formation of the teeth" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0000433 microcephaly "an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh5tm6Dvst/Cdh5tm6Dvst
Genetic Background: B6.Cg-Cdh5tm6Dvst

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Evctm1Jago/Evctm1Jago,Evc2tm1.1Vlrp/Evc2tm1.1Vlrp
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Cdh5tm6Dvst/Cdh5tm6Dvst
Genetic Background: B6.Cg-Cdh5tm6Dvst

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Cdh5tm6Dvst/Cdh5tm6Dvst
Genetic Background: B6.Cg-Cdh5tm6Dvst

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kdm2atm1d(KOMP)Mtok/Kdm2atm1d(KOMP)Mtok
Genetic Background: involves: C57BL/6 * C57BL/6JJcl * C57BL/6N

 MP:0002427 dwarfism "abnormally undersized with disproportionate body parts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh5tm6Dvst/Cdh5tm6Dvst
Genetic Background: B6.Cg-Cdh5tm6Dvst

Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0002650 abnormal ameloblast morphology "malformation of the epithelial cells of the inner layer of the enamel organ of the developing tooth" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0002764 short tibia " reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0002765 short fibula "reduced length of the lateral and smaller of bone of the lower leg" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:12736]
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Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 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]
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Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Evctm1Jago/Evctm1Jago,Evc2tm1.1Vlrp/Evc2tm1.1Vlrp
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6J

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0003409 decreased width of hypertrophic chondrocyte zone "decreased width of cartilage cell matrix layer " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003662 abnormal proliferative zone "germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96254]
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Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Evctm1Jago/Evctm1Jago,Evc2tm1.1Vlrp/Evc2tm1.1Vlrp
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6J

 MP:0004351 short humerus "reduced length of 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"]
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Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0004355 short radius "reduced length of the short bone of the lateral forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0004359 short ulna "reduced length of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0004463 basisphenoid bone foramen "the presence of one or more holes in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Evctm1Jago/Evctm1Jago,Evc2tm1.1Vlrp/Evc2tm1.1Vlrp
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6J

 MP:0004672 short ribs "reduced length of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Evctm1Jago/Evctm1Jago,Evc2tm1.1Vlrp/Evc2tm1.1Vlrp
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6J

 MP:0005352 small skull "less than the normal size of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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"]
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Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009780 abnormal chondrocyte physiology "any functional anomaly of nondividing cartilage cells" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Evctm1Jago/Evctm1Jago,Evc2tm1.1Vlrp/Evc2tm1.1Vlrp
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6J

 MP:0010029 abnormal basicranium morphology "any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0010879 decreased trabecular bone volume "decrease in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Evctm1Jago/Evctm1Jago,Evc2tm1.1Vlrp/Evc2tm1.1Vlrp
Genetic Background: involves: 129 * 129S7/SvEvBrd * 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]
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Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011711 decreased osteoblast differentiation 
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Allelic Composition: Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Evctm1Jago/Evctm1Jago,Evc2tm1.1Vlrp/Evc2tm1.1Vlrp
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6J

 MP:0030081 small upper incisors "reduced size of the upper set of long teeth that are the most anterior and prominent in the jaw" [MGI:anna]
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Allelic Composition: Evc2tm1.1Mis/Evc2tm1.1Mis
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0030089 short lower incisors "reduced length of the lower set of long teeth that are the most anterior and prominent in the jaw" [MGI:anna]
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Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0030090 short upper incisors "reduced length of the upper set of long teeth that are the most anterior and prominent in the jaw" [MGI:anna]
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Allelic Composition: Evc2tm2.1Mis/Evc2tm2.1Mis,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0030447 abnormal presphenoid synchondrosis "any anomaly in the development of the cartilaginous joint (growth center) between the presphenoid and basisphenoid bones of the skull base" [PMID:23179633]
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Allelic Composition: Evctm1Jago/Evctm1Jago,Evc2tm1.1Vlrp/Evc2tm1.1Vlrp
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000001761 Smo / P56726 / smoothened, frizzled class receptor / Q99835*  / complex / reaction
 ENSMUSG00000029122 Evc / P57680 / Ellis-van Creveld syndrome protein homolog / P57679* / EvC ciliary complex subunit 1*  / complex
 ENSMUSG00000036555 Iqce / Q6PCQ0 / IQ domain-containing protein E / Q6IPM2* / IQ motif containing E*  / complex / reaction






 

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