ENSMUSG00000029122


Mus musculus

Features
Gene ID: ENSMUSG00000029122
  
Biological name :Evc
  
Synonyms : Ellis-van Creveld syndrome protein homolog / Evc / P57680
  
Possible biological names infered from orthology : EvC ciliary complex subunit 1 / P57679
  
Species: Mus musculus
  
Chr. number: 5
Strand: -1
Band: B3
Gene start: 37289098
Gene end: 37336894
  
Corresponding Affymetrix probe sets: 10529613 (MoGene1.0st)   1448876_at (Mouse Genome 430 2.0 Array)   1451697_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000031005
Ensembl peptide - ENSMUSP00000109791
Ensembl peptide - ENSMUSP00000114825
Ensembl peptide - ENSMUSP00000120191
Ensembl peptide - ENSMUSP00000109785
NCBI entrez gene - 59056     See in Manteia.
MGI - MGI:1890596
RefSeq - XM_017321049
RefSeq - NM_021292
RefSeq - XM_006504042
RefSeq - XM_006504043
RefSeq - XM_011240761
RefSeq Peptide - NP_067267
swissprot - P57680
swissprot - F6X0M4
swissprot - F6Z2D6
swissprot - E9Q2E6
swissprot - D3YUJ0
Ensembl - ENSMUSG00000029122
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 EVCENSGALG00000015037Gallus gallus
 EVCENSG00000072840Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR026501  Limbin/Ellis-van Creveld protein
 IPR026582  Ellis-van Creveld protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003416 endochondral bone growth IMP
 biological_processGO:0007224 smoothened signaling pathway IEA
 biological_processGO:0045880 positive regulation of smoothened signaling pathway IMP
 biological_processGO:0051216 cartilage development IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0036064 ciliary basal body IDA
 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:0000060 delayed bone ossification "late onset of the formation of bone" [J:40203]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0000079 abnormal basioccipital bone morphology "malformed basilar process of the occipital bone" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0000150 abnormal rib morphology "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

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

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

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

 MP:0000558 abnormal tibia morphology "atructural anomaly of the medial and larger of the two bones of the lower leg" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 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: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0001438 aphagia "inability to eat " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:30404]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0002100 abnormal tooth morphology "atypical size, shape or hard tissue structure of the teeth " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0002689 abnormal molar morphology "structural defect of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface" [il:Ira Lu , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 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]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 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: 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]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 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]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * 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]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * 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"]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 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: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 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"]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 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"]
Show

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

 MP:0004604 abnormal vertebral pedicle morphology "any structural anomaly of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 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"]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

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

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0005358 abnormal incisor morphology "structural defect of the long pointed teeth; most anterior and prominent in the jaw" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * 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: Evctm1Jago/Evctm1Jago,Evc2tm1.1Vlrp/Evc2tm1.1Vlrp
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6J

 MP:0010099 abnormal thoracic cage shape "anomaly in the overall regular dome shape of the ribcage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0010103 small thoracic cage "reduced size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 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: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * 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]
Show

Allelic Composition: Sgpl1Gt(ROSA)78Sor/Sgpl1Gt(ROSA)78Sor
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

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

 MP:0011711 decreased osteoblast differentiation 
Show

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

 MP:0014107 premature chondrocyte differentiation "early occurance of the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte" [GO:0002062]
Show

Allelic Composition: Helttm1Yono/Helttm1Yono
Genetic Background: involves: 129S/SvEv * C57BL/6

 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]
Show

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
 ENSMUSG00000050248 Evc2 / Q8K1G2 / Limbin / Q86UK5* / EvC ciliary complex subunit 2*  / complex
 ENSMUSG00000036555 Iqce / Q6PCQ0 / IQ domain-containing protein E / Q6IPM2* / IQ motif containing E*  / complex / reaction






 

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