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Evc2 Gene Detail
Summary
  • Symbol
    Evc2
  • Name
    Ellis van Creveld syndrome 2
  • Synonyms
    1110017L09Rik, Lbn, limbin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915775
    NCBI Gene: 68525
Location & Maps
more
  • Sequence Map
    Chr5:37338499-37425055 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      86557 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    EVC2, EvC ciliary complex subunit 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    EVC2, EvC ciliary complex subunit 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    LBN, WAD
  • Links
    NCBI Gene ID: 132884
    neXtProt AC: NX_Q86UK5

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

  • HomoloGene
    Vertebrate Homology Class 17117
    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
Human Diseases
more
  • Diseases
    1 with Evc2 mouse models; 2 with human EVC2 associations

Human Disease Mouse Models
       Ellis-Van Creveld Syndrome; EVC   OMIM: 225500 View 1 model
       Weyers Acrofacial Dysostosis; WAD   OMIM: 193530
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 4 alleles in 4 genetic backgrounds
    20 phenotypes from multigenic genotypes
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    4
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    5
  • Genomic Mutations
    6 involving Evc2
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    967 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 43
    cDNA 41
    Primer pair 2

    Microarray probesets 2
References
more
  • Summaries
    All 30
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 3
    Phenotypes 25
  • 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:226455 Zhang H, et al., Generation of Evc2/Limbin global and conditional KO mice and its roles during mineralized tissue formation. Genesis. 2015 Jul 28;

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
04/26/2016
MGI 6.03
The Jackson Laboratory