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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
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:37289098-37336894 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 20.06 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    461 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890596
protein coding gene Chr5:37289098-37337630 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029500
protein coding gene Chr5:35651570-35690700 (-)
A/J MGP_AJ_G0029466
protein coding gene Chr5:34490857-34529357 (-)
AKR/J MGP_AKRJ_G0029416
protein coding gene Chr5:35780588-35818489 (-)
BALB/cJ MGP_BALBcJ_G0029477
protein coding gene Chr5:34979651-35018226 (-)
C3H/HeJ MGP_C3HHeJ_G0029200
protein coding gene Chr5:35779157-35817938 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029931
protein coding gene Chr5:37577791-37617751 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027169
protein coding gene Chr5:32201251-32239878 (-)
CAST/EiJ MGP_CASTEiJ_G0028608
protein coding gene Chr5:34935991-34975653 (-)
CBA/J MGP_CBAJ_G0029167
protein coding gene Chr5:38500098-38538547 (-)
DBA/2J MGP_DBA2J_G0029314
protein coding gene Chr5:34607938-34645784 (-)
FVB/NJ MGP_FVBNJ_G0029273
protein coding gene Chr5:34093952-34130836 (-)
LP/J MGP_LPJ_G0029400
protein coding gene Chr5:36115631-36154580 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029303
protein coding gene Chr5:39214769-39252393 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029964
protein coding gene Chr5:35276584-35315487 (-)
PWK/PhJ MGP_PWKPhJ_G0028332
protein coding gene Chr5:33790440-33829223 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028165
protein coding gene Chr5:34734970-34773297 (-)
WSB/EiJ MGP_WSBEiJ_G0028689
protein coding gene Chr5:35363708-35401978 (-)



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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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 ENSMUSG00000029122 Ensembl Gene Model | MGI Sequence Detail 47797 C57BL/6J ±  kb
    transcript ENSMUST00000031005 Ensembl | MGI Sequence Detail 4325 Not Applicable  
    polypeptide ENSMUSP00000031005 Ensembl | MGI Sequence Detail 1005 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      cDNA 44
      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
    03/13/2019
    MGI 6.13
    The Jackson Laboratory