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Frem2 Gene Detail
Summary
  • Symbol
    Frem2
  • Name
    Fras1 related extracellular matrix protein 2
  • Synonyms
    6030440P17Rik, 8430406N05Rik, b2b1562Clo, my, ne
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444465
    NCBI Gene: 242022
Location & Maps
more
  • Sequence Map
    Chr3:53513938-53657355 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      143418 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    FREM2, FRAS1 related extracellular matrix protein 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    FREM2, FRAS1 related extracellular matrix protein 2
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 341640
    neXtProt AC: NX_Q5SZK8

  • Chr Location
    13q13.3; chr13:38687036-38887131 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 18454
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: FREM2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Frem2 mouse models; 1 with human FREM2 associations

Human Disease Mouse Models
       Fraser Syndrome   OMIM: 219000 View 6 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    47 phenotypes from 7 alleles in 8 genetic backgrounds
    5 phenotypes from multigenic genotypes
    16 images
    32 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Chemically induced (ENU)
    3
  • Gene trapped
    2
  • Radiation induced
    3
  • Spontaneous
    2
  • Targeted
    2
  • Genomic Mutations
    2 involving Frem2
  • Incidental Mutations
Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant.
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 OTTMUSG00000053495 VEGA Gene Model | MGI Sequence Detail 143418 C57BL/6J ±  kb
transcript OTTMUST00000133424 VEGA | MGI Sequence Detail 12348 Not Applicable  
polypeptide OTTMUSP00000070925 VEGA | MGI Sequence Detail 3160 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1448 from dbSNP Build 137
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000007657 FRAS1-related extracellular matrix protein 2
  • InterPro Domains
    IPR002126 Cadherin
    IPR003644 Na-Ca exchanger/integrin-beta4
Molecular
Reagents
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  • All nucleic 57
    cDNA 55
    Primer pair 2

    Microarray probesets 1
Other
Accession IDs
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MGD-MRK-12734, MGI:1918727, MGI:3794301, MGI:5429775, MGI:97248
References
more
  • Summaries
    All 54
    Developmental Gene Expression 13
    Diseases 5
    Gene Ontology 10
    Phenotypes 32
  • Earliest
    J:14847 Little CC, et al., The occurrence of two heritable types of abnormality among descendants of X-rayed mice. Am J Roentgenol. 1923;10:975-989
  • Latest
    J:223062 Palmer K, et al., Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol. 2015 Jul 30;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory