Ezr MGI Mouse Gene Detail - MGI:98931 (original) (raw)

Summary

Symbol
Ezr
Name
ezrin
Synonyms
cytovillin, ezrin, p81, Vil2
Feature Type
protein coding gene
IDs
MGI:98931
NCBI Gene:22350
Alliance
Transcription Start Sites
18 TSS

Location &
Maps

Sequence Map
Chr17:7005530-7050179 bp, - strand
From NCBI annotation of GRCm39
Genome Browsers
Genetic Map
Chromosome 17, 4.38 cM
Mapping Data
2 experiments

Strain
Comparison

SNPs within 2kb
1320 from dbSNP Build 142
Strain Annotations
18
PCR

Homology

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
Chr Location
6q25.3; chr6:158765741-158819368 (-) GRCh38

MGI Vertebrate Homology
HCOP
vertebrate homology predictions:EZR
Protein SuperFamily
Gene Tree

Human Diseases

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References
6 with disease annotations

Mutations,
Alleles, and
Phenotypes

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Phenotype Summary
12 phenotypes from 4 alleles in 4 genetic backgrounds
377 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles
Endonuclease-mediated
Gene trapped
Radiation induced
Targeted
Genomic Mutations
1 involving Ezr
Incidental Mutations
Find Mice (IMSR)
Comparison Matrix

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

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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 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

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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
Other Mouse Links
Other Vertebrate Links

Sequences &
Gene Models

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All Sequences
RefSeq
UniProt
CCDS
Ensembl
NCBI Gene

Protein
Information

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UniProt
6 Sequences
Protein Ontology
InterPro Domains
IPR041789 ERM family, FERM domain C-lobe
IPR046810 Ezrin/radixin/moesin, alpha-helical domain
IPR011259 Ezrin/radixin/moesin, C-terminal
IPR014352 FERM/acyl-CoA-binding protein superfamily
IPR018980 FERM, C-terminal PH-like domain
IPR035963 FERM superfamily, second domain
IPR008954 Moesin tail domain superfamily
IPR029071 Ubiquitin-like domain superfamily
GlyGen
P26040 1 site, 1 O-linked glycan (1 site)

Molecular
Reagents

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All nucleic 434
Primer pair 5
Other 4
Microarray probesets 4

Other
Accession IDs

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MGD-MRK-15394, MGI:2142897, MGI:2147052

References

Summaries
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