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; chr4:5564146-5711275 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EVC2

Alleles and phenotypes

All alleles(6) : Targeted(2) Gene trapped(4)
 

Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology.

 

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	smoothened signaling pathway
Component	cell projection, cilium, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (25)    Tissues (21)    Images (7)
Theiler Stages: 10, 18, 23, 25, 28

Assay Type	Results
RNA in situ	14
Northern blot	11

cDNA source data(40)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(40) cDNA(40)
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 Knockout Project Status	Evc2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025801	VEGA Gene Model | MGI Sequence Detail	86557	C57BL/6J
transcript	OTTMUST00000063537	VEGA | MGI Sequence Detail	4091	Not Applicable
polypeptide	OTTMUSP00000031416	VEGA | MGI Sequence Detail	1220	Not Applicable

All sequences(31) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(658 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:188176 Caparros-Martin JA, et al., The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia. Hum Mol Genet. 2012 Oct 16;
All references(30)