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Zmpste24 Gene Detail
Summary
  • Symbol
    Zmpste24
  • Name
    zinc metallopeptidase, STE24
  • Synonyms
    A530043O15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890508
    NCBI Gene: 230709
Location & Maps
more
  • Sequence Map
    Chr4:121059237-121098241 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39005 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 56.80 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    ZMPSTE24, zinc metallopeptidase STE24
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ZMPSTE24, zinc metallopeptidase STE24
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FACE1, FACE-1, HGPS, PRO1, STE24, Ste24p
  • Links
    NCBI Gene ID: 10269
    neXtProt AC: NX_O75844

  • Chr Location
    1p34.2; chr1:40258050-40294184 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Zmpste24 mouse models; 2 with human ZMPSTE24 associations

Human Disease Mouse Models
       Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant; EDMD2   OMIM: 181350 View 1 model
Hutchinson-Gilford Progeria Syndrome; HGPS   OMIM: 176670 View 3 models
Lipodystrophy, Familial Partial, Type 2; FPLD2   OMIM: 151660 View 1 model
Muscular Dystrophy, Limb-Girdle, Type 1B; LGMD1B   OMIM: 159001 View 1 model
       Mandibuloacral Dysplasia with Type B Lipodystrophy; MADB   OMIM: 608612
Restrictive Dermopathy, Lethal   OMIM: 275210
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    74 phenotypes from 2 alleles in 5 genetic backgrounds
    18 phenotypes from multigenic genotypes
    4 images
    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.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    4 involving Zmpste24
  • Incidental Mutations
Mutants are deficient in proteolytic processing of prelamin A and display many abnormalities including retarded growth, bone fragility, hair loss, cardiomyopathy, muscular dystrophy and lipodystrophy. Most die prematurely, but some survive and reproduce.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008909 VEGA Gene Model | MGI Sequence Detail 39005 C57BL/6J ±  kb
transcript OTTMUST00000020234 VEGA | MGI Sequence Detail 3429 Not Applicable  
polypeptide OTTMUSP00000009273 VEGA | MGI Sequence Detail 475 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    242 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 8
    cDNA 7
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2443572
References
more
  • Summaries
    All 52
    Developmental Gene Expression 1
    Diseases 8
    Gene Ontology 6
    Phenotypes 34
  • Earliest
    J:70661 Leung GK, et al., Biochemical studies of Zmpste24-deficient mice. J Biol Chem. 2001 Aug 3;276(31):29051-8
  • Latest
    J:227286 Soria-Valles C, et al., NF-kappaB activation impairs somatic cell reprogramming in ageing. Nat Cell Biol. 2015 Aug;17(8):1004-13

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory