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Evc2 Gene Detail
Summary
  • Symbol
    Evc2
  • Name
    EvC ciliary complex subunit 2
  • Synonyms
    1110017L09Rik, Ellis van Creveld syndrome 2, Lbn, limbin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915775
    NCBI Gene: 68525
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:37495843-37582399 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 20.15 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    967 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915775
 protein coding gene Chr5:37495801-37582399 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029501
 protein coding gene Chr5:35692321-35784298 (+)
A/J MGP_AJ_G0029467
 protein coding gene Chr5:34530971-34617411 (+)
AKR/J MGP_AKRJ_G0029417
 protein coding gene Chr5:35820103-35911942 (+)
BALB/cJ MGP_BALBcJ_G0029478
 protein coding gene Chr5:35019840-35107522 (+)
C3H/HeJ MGP_C3HHeJ_G0029201
 protein coding gene Chr5:35819552-35909096 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029932
 protein coding gene Chr5:37619372-37709564 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027170
 protein coding gene Chr5:32241476-32325919 (+)
CAST/EiJ MGP_CASTEiJ_G0028609
 protein coding gene Chr5:34977259-35072020 (+)
CBA/J MGP_CBAJ_G0029168
 protein coding gene Chr5:38540161-38631334 (+)
DBA/2J MGP_DBA2J_G0029315
 protein coding gene Chr5:34647405-34737058 (+)
FVB/NJ MGP_FVBNJ_G0029274
 protein coding gene Chr5:34132457-34219852 (+)
LP/J MGP_LPJ_G0029401
 protein coding gene Chr5:36156185-36249018 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029304
 protein coding gene Chr5:39254014-39343722 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029965
 protein coding gene Chr5:35317108-35410690 (+)
PWK/PhJ MGP_PWKPhJ_G0028333
 protein coding gene Chr5:33830842-33917599 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028166
 protein coding gene Chr5:34774904-34863359 (+)
WSB/EiJ MGP_WSBEiJ_G0028690
 protein coding gene Chr5:35403592-35496838 (+)



Homology
more
  • Human Ortholog
    EVC2, EvC ciliary complex subunit 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EVC2, EvC ciliary complex subunit 2
  • Synonyms
    LBN, WAD
  • Links
    NCBI Gene ID: 132884
    neXtProt AC: NX_Q86UK5
    UniProt: Q86UK5

  • Chr Location
    4p16.2; chr4:5529011-5709548 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Evc2 mouse models; 2 with human EVC2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    48 phenotypes from 5 alleles in 7 genetic backgrounds
    9 phenotypes from multigenic genotypes
    34 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 knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    4
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    782
  • Tissues
    63
  • cDNA Data
    42
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000050248 Ensembl Gene Model | MGI Sequence Detail 86557 C57BL/6J ±  kb
    transcript ENSMUST00000056365 Ensembl | MGI Sequence Detail 4091 Not Applicable  
    polypeptide ENSMUSP00000055130 Ensembl | MGI Sequence Detail 1220 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      Genomic 1
      cDNA 42
      Primer pair 3

      Microarray probesets 2
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 4
      Phenotypes 34
    • 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:312077 Kulkarni AK, et al., A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull Base for Mid-Facial Development. Front Physiol. 2018;9:1484
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory