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Evc2
Gene Detail
 Symbol
Name
ID
Evc2
Ellis van Creveld syndrome 2
MGI:1915775
Synonyms 1110017L09Rik, Lbn, limbin
Feature Type protein coding gene
Genetic Map
Chromosome 5
20.15 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr5:37338499-37425055 bp, + strand
From VEGA annotation of GRCm38

  86557 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:17117  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Evc2

Human
homologs
Human Homolog EVC2, Ellis van Creveld syndrome 2
NCBI Gene ID 132884
neXtProt AC  NX_Q86UK5
Human Synonyms  LBN
Human Chr (Location)  4p16.2-p16.1; chr4:5562419-5709548 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human EVC2
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Chemically induced (ENU)(1) Gene trapped(4) Radiation induced(1) Targeted(2)
Genomic Mutations involving Evc2 (2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology.
 
Alleles Annotated to Human Diseases(2)   
Interactions
Evc2 interacts with 74 markers (Mir18, Mir18b, Mir23b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process smoothened signaling pathway
Component cell projection, cilium, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (51)    Tissues (41)    Images (7)
Theiler Stages: 10, 16, 17, 18, 19, 20, 21, 23, 25, 28
Assay TypeResults
Immunohistochemistry 16
RNA in situ 19
Northern blot 11
RT-PCR 5
cDNA source data(41)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(43) cDNA(41) Primer pair(2)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000025801 (Evidence)
Ensembl Gene ModelENSMUSG00000050248 (Evidence)
Entrez Gene68525 (Evidence)
UniGene25506
DoTSDT.87057814, DT.91402698
NIA Mouse Gene IndexU076182
Consensus CDS ProjectCCDS19248.1
International Mouse Knockout Project StatusEvc2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025801 VEGA Gene Model | MGI Sequence Detail 86557 C57BL/6J ±  kb
transcript OTTMUST00000063537 VEGA | MGI Sequence Detail 4091 Not Applicable 
polypeptide OTTMUSP00000031416 VEGA | MGI Sequence Detail 1220 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(4) UniProt(3)
Polymorphisms SNPs within 2kb(972 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR022076 Limbin
InterPro IPR026501 Limbin/Ellis-van Creveld protein
Protein Ontology PR:000007233 limbin
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(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(32)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory