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Evc
Gene Detail
Symbol

Name
ID
Evc
Ellis van Creveld gene syndrome
MGI:1890596
Feature Type
protein coding gene
Genetic Map
Chromosome 5
20.06 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr5:37289098-37336894 bp, - strand
From VEGA annotation of GRCm38

  47797 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10949  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

HCOP human homology predictions: EVC
Gene Tree: Evc

Human
homologs
EVC, Ellis van Creveld protein
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2121
neXtProt AC: NX_P57679

Human Synonyms: DWF-1, EVC1, EVCL

Human Chr (Location): 4p16; chr4:5711189-5829045 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human EVC

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(1) Gene trapped(1) Radiation induced(2) Targeted(6)
Genomic Mutations involving Evc (3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null allele exhibit some lethality shortly after birth and exhibit aphagia, infertile, teeth abnormalities, short limbs and long bones, delays in ossification, and short ribs.
 
Human Diseases Modeled in Mice Using Evc (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(4)
Interactions
Evc interacts with 191 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process endochondral bone growth, positive regulation of smoothened signaling pathway, ...
Component cell projection, ciliary basal body, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (30)    Tissues (24)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 15
RNA in situ 10
RT-PCR 5
cDNA source data(41)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase evc    NEW 
Molecular
reagents
All nucleic(45) cDNA(43) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000024883 (Evidence)
Ensembl Gene Model ENSMUSG00000029122 (Evidence)
Entrez Gene 59056 (Evidence)
UniGene 479678
DFCI TC1580317, TC1596422
DoTS DT.40146116, DT.40180062, DT.91401495, DT.91588633, DT.97413996
NIA Mouse Gene Index U026129
Consensus CDS Project CCDS19247.1
International Mouse Phenotyping Consortium Status Evc
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024883 VEGA Gene Model | MGI Sequence Detail 47797 C57BL/6J ±  kb
transcript OTTMUST00000061283 VEGA | MGI Sequence Detail 4325 Not Applicable 
polypeptide OTTMUSP00000030026 VEGA | MGI Sequence Detail 1005 Not Applicable 

For the selected sequences
All sequences(69) RefSeq(10) UniProt(7)
Polymorphisms
SNPs within 2kb(466 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026582 Ellis-van Creveld protein
InterPro IPR026501 Limbin/Ellis-van Creveld protein
Protein Ontology PR:000007232 ellis-van Creveld syndrome protein
References
(Earliest) J:60752 Ruiz-Perez VL, et al., Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis [see comments] [published erratum appears in Nat Genet 2000 May;25(1):125]. Nat Genet. 2000 Mar;24(3):283-6
(Latest) J:196977 Nakatomi M, et al., Evc regulates a symmetrical response to Shh signaling in molar development. J Dent Res. 2013 Mar;92(3):222-8
All references(34)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory