About   Help   FAQ
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
    genome feature 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
    3039 from dbSNP Build 142
  • Strain Annotations
    19
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 ENSMUSG00200029605
 protein coding gene Chr5:32944898-33031471 (+)
A/J ENSMUSG00195028153
 protein coding gene Chr5:32405734-32492420 (+)
AKR/J ENSMUSG00220001904
 protein coding gene Chr5:32432567-32519260 (+)
BALB/cJ ENSMUSG00180021607
 protein coding gene Chr5:32208596-32295286 (+)
C3H/HeJ ENSMUSG00175018105
 protein coding gene Chr5:34192766-34279446 (+)
C57BL/6NJ ENSMUSG00215004772
 protein coding gene Chr5:32944747-33031311 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027170
 protein coding gene Chr5:32241476-32325919 (+)
CAST/EiJ ENSTCUG00005023616
 protein coding gene Chr5:32420371-32508379 (+)
CBA/J ENSMUSG00210004833
 protein coding gene Chr5:33156789-33243459 (+)
DBA/2J ENSMUSG00185017391
 protein coding gene Chr5:35028787-35115354 (+)
FVB/NJ ENSMUSG00205014454
 protein coding gene Chr5:31912874-31999460 (+)
JF1/MsJ ENSUMUG00000052936
 protein coding gene Chr5:39626990-39719419 (+)
LP/J ENSMUSG00230041427
 protein coding gene Chr5:39672036-39758597 (+)
NOD/ShiLtJ ENSMUSG00190002987
 protein coding gene Chr5:32215996-32302562 (+)
NZO/HlLtJ ENSMUSG00225015717
 protein coding gene Chr5:44843669-44930422 (+)
PWK/PhJ ENSLUMG00010021469
 protein coding gene Chr5:32311371-32397245 (+)
SPRET/EiJ ENSMSPG00010031290
 protein coding gene Chr5:33533188-33625266 (+)
WSB/EiJ ENSIUOG00005018039
 protein coding gene Chr5:35130269-35216895 (+)



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
    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
    38 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
    16
  • GO References
    5
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
membraneless 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
    735
  • Tissues
    87
  • 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
      Antibodies 3

      Microarray probesets 2
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 5
      Phenotypes 38
    • 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:391812 Correia Cavalcante R, et al., Gli1(+) Cells Exhibit Clonogenicity and Slow-Cycling Features at the Temporomandibular Joint (TMJ) Enthesis-Condyle Interface. Int J Mol Sci. 2026 Apr 7;27(7)
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory