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Emilin2 Gene Detail
Summary
  • Symbol
    Emilin2
  • Name
    elastin microfibril interfacer 2
  • Synonyms
    basilin, FOAP-10
  • Feature Type
    protein coding gene
  • IDs
    MGI:2389136
    NCBI Gene: 246707
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
  • Candidate for QTL
    2 QTL
Location &
Maps
more
  • Sequence Map
    Chr17:71559167-71618551 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 41.87 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2084 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2389136
 protein coding gene Chr17:71559167-71618973 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024006
 protein coding gene Chr17:73688366-73752140 (-)
A/J MGP_AJ_G0023964
 protein coding gene Chr17:71459656-71518682 (-)
AKR/J MGP_AKRJ_G0023933
 protein coding gene Chr17:72424974-72483412 (-)
BALB/cJ MGP_BALBcJ_G0023965
 protein coding gene Chr17:71359081-71418464 (-)
C3H/HeJ MGP_C3HHeJ_G0023729
 protein coding gene Chr17:73384246-73445115 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024411
 protein coding gene Chr17:76373698-76446063 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021856
 protein coding gene Chr17:67221841-67281017 (-)
CAST/EiJ MGP_CASTEiJ_G0023210
 protein coding gene Chr17:73809592-73872369 (-)
CBA/J MGP_CBAJ_G0023704
 protein coding gene Chr17:79550500-79617838 (-)
DBA/2J MGP_DBA2J_G0023833
 protein coding gene Chr17:70125719-70183904 (-)
FVB/NJ MGP_FVBNJ_G0023799
 protein coding gene Chr17:69591673-69651123 (-)
LP/J MGP_LPJ_G0023915
 protein coding gene Chr17:74444330-74503190 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023827
 protein coding gene Chr17:79418523-79492307 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024455
 protein coding gene Chr17:72940564-73002068 (-)
PWK/PhJ MGP_PWKPhJ_G0022956
 protein coding gene Chr17:69427586-69490525 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022767
 protein coding gene Chr17:69656776-69716978 (-)
WSB/EiJ MGP_WSBEiJ_G0023277
 protein coding gene Chr17:73762599-73823460 (-)



Homology
more
  • Human Ortholog
    EMILIN2, elastin microfibril interfacer 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EMILIN2, elastin microfibril interfacer 2
  • Synonyms
    EMILIN-2, FOAP-10
  • Links
    NCBI Gene ID: 84034
    neXtProt AC: NX_Q9BXX0
    UniProt: Q9BXX0

  • Chr Location
    18p11.32-p11.31; chr18:2846232-2916003 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    7 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 disruptions in platelet activation, thrombus formation and clot retraction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    8
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
    816
  • Tissues
    71
  • cDNA Data
    47
  • Literature Summary
    8
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 246707 NCBI Gene Model | MGI Sequence Detail 59385 C57BL/6J ±  kb
transcript NM_145158 RefSeq | MGI Sequence Detail 3910 C57BL/6  
polypeptide Q8K482 UniProt | EBI | MGI Sequence Detail 1074 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 48
    cDNA 47
    Primer pair 1

    Microarray probesets 4
References
more
  • Summaries
    All 45
    Developmental Gene Expression 8
    Gene Ontology 8
    Phenotypes 7
  • Earliest
    J:78991 Leimeister C, et al., Developmental expression and biochemical characterization of Emu family members. Dev Biol. 2002 Sep 15;249(2):204-18
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
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
12/10/2024
MGI 6.24 		The Jackson Laboratory