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Evc Gene Detail
Summary
  • Symbol
    Evc
  • Name
    EvC ciliary complex subunit 1
  • Synonyms
    Ellis van Creveld gene syndrome
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890596
    NCBI Gene: 59056
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr5:37289098-37336894 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      47797 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 20.06 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    EVC, EvC ciliary complex subunit 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    EVC, EvC ciliary complex subunit 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DWF-1, EVC1, EVCL
  • Links
    NCBI Gene ID: 2121
    neXtProt AC: NX_P57679
    UniProt: P57679

  • Chr Location
    4p16.2; chr4:5711197-5829043 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 10949
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EVC
  • Gene Tree
    Evc
Human Diseases
more
  • Diseases
    1 with Evc mouse models; 1 with human EVC associations

Human Disease Mouse Models
      
IDs
View 1 model
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
    27 phenotypes from 1 allele in 2 genetic backgrounds
    9 phenotypes from multigenic genotypes
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      461 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 45
      cDNA 43
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 5
      Diseases 2
      Gene Ontology 6
      Phenotypes 28
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:237132 Burnicka-Turek O, et al., Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet. 2016 Jul 15;25(14):3011-3028

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory