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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; 1 western clawed frog

HCOP human homology predictions: EVC2
Gene Tree: Evc2

Human
homologs
EVC2, Ellis van Creveld syndrome 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 132884
neXtProt AC: NX_Q86UK5

Human Synonyms: LBN, WAD

Human Chr (Location): 4p16.2; chr4:5534397-5709548 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human EVC2

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Chemically induced (ENU)(1) Gene trapped(4) Radiation induced(2) Targeted(2)
Genomic Mutations involving Evc2 (3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology.
 
Mutations Annotated to Human Diseases (2)    Phenotype Images(4)
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)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 16
RNA in situ 19
Northern blot 11
RT-PCR 5
cDNA source data(41)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase evc2    NEW 
Molecular
reagents
All nucleic(43) cDNA(41) Primer pair(2)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000025801 (Evidence)
Ensembl Gene Model ENSMUSG00000050248 (Evidence)
Entrez Gene 68525 (Evidence)
UniGene 25506
DoTS DT.87057814, DT.91402698
NIA Mouse Gene Index U076182
Consensus CDS Project CCDS19248.1
International Mouse Phenotyping Consortium Status Evc2
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(30)

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
07/21/2015
MGI 5.22
The Jackson Laboratory