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Ezr Gene Detail
Summary
  • Symbol
    Ezr
  • Name
    ezrin
  • Synonyms
    cytovillin, ezrin, p81, Vil2
  • Feature Type
    protein coding gene
  • IDs
    MGI:98931
    NCBI Gene: 22350
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:7005530-7050179 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 4.38 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1320 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98931
 protein coding gene Chr17:7005440-7050183 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023117
 protein coding gene Chr17:3982080-4027984 (-)
A/J MGP_AJ_G0023085
 protein coding gene Chr17:3939288-3984469 (-)
AKR/J MGP_AKRJ_G0023052
 protein coding gene Chr17:4035420-4085011 (-)
BALB/cJ MGP_BALBcJ_G0023088
 protein coding gene Chr17:3833323-3879659 (-)
C3H/HeJ MGP_C3HHeJ_G0022849
 protein coding gene Chr17:4135638-4180404 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023532
 protein coding gene Chr17:4174783-4223270 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021034
 protein coding gene Chr17:3267944-3311995 (-)
CAST/EiJ MGP_CASTEiJ_G0022364
 protein coding gene Chr17:4089185-4136329 (-)
CBA/J MGP_CBAJ_G0022815
 protein coding gene Chr17:4276690-4321428 (-)
DBA/2J MGP_DBA2J_G0022952
 protein coding gene Chr17:3705853-3751145 (-)
FVB/NJ MGP_FVBNJ_G0022926
 protein coding gene Chr17:3740823-3786525 (-)
LP/J MGP_LPJ_G0023020
 protein coding gene Chr17:4058984-4106458 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022944
 protein coding gene Chr17:4165949-4213257 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023555
 protein coding gene Chr17:4022153-4068201 (-)
PWK/PhJ MGP_PWKPhJ_G0022111
 protein coding gene Chr17:3686290-3731325 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021937
 protein coding gene Chr17:3679542-3725762 (-)
WSB/EiJ MGP_WSBEiJ_G0022418
 protein coding gene Chr17:4086770-4137380 (-)



Homology
more
  • Human Ortholog
    EZR, ezrin
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EZR, ezrin
  • Synonyms
    CVIL, CVL, HEL-S-105, VIL2
  • Links
    NCBI Gene ID: 7430
    neXtProt AC: NX_P15311
    UniProt: P15311

  • Chr Location
    6q25.3; chr6:158765741-158819368 (-)  GRCh38
  • MGI Vertebrate Homology
    Ezr stringent orthology
    1 human;1 mouse;1 rat;2 zebrafish
  • HCOP
    vertebrate homology predictions: EZR
  • Protein SuperFamily
    ERM
  • Gene Tree
    Ezr
Human Diseases
less
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 4 alleles in 4 genetic backgrounds
    377 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.
Homozygous null mice display postnatal lethality with abnormal intestinal villi morphology. Mice homozygous for a knock-down allele exhibit growth retardation, partial postnatal lethality, achlorhydria, and abnormal gastric parietal cell morphology and response to histamine stimulation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    156
  • GO References
    27
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
    1558
  • Tissues
    382
  • cDNA Data
    424
  • Literature Summary
    94
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22350 NCBI Gene Model | MGI Sequence Detail 44650 C57BL/6J ±  kb
    transcript NM_009510 RefSeq | MGI Sequence Detail 3070 C57BL/6  
    polypeptide P26040 UniProt | EBI | MGI Sequence Detail 586 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 434
      cDNA 425
      Primer pair 5
      Other 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-15394, MGI:2142897, MGI:2147052
    References
    more
    • Summaries
      All 544
      Developmental Gene Expression 94
      Diseases 6
      Gene Ontology 27
      Phenotypes 377
    • Earliest
      J:35128 Funayama N, et al., Radixin is a novel member of the band 4.1 family. J Cell Biol. 1991 Nov;115(4):1039-48
    • Latest
      J:357738 Liu Y, et al., Cone photoreceptor differentiation regulated by thyroid hormone transporter MCT8 in the retinal pigment epithelium. Proc Natl Acad Sci U S A. 2024 Jul 23;121(30):e2402560121
    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)
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    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