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Frem1 Gene Detail
Summary
  • Symbol
    Frem1
  • Name
    Fras1 related extracellular matrix protein 1
  • Synonyms
    crf11, eyem02Jus, eyes2, heb, QBRICK
  • Feature Type
    protein coding gene
  • IDs
    MGI:2670972
    NCBI Gene: 329872
  • Gene Overview
    MyGene.info: FREM1
Location & Maps
more
  • Sequence Map
    Chr4:82897927-83052339 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      154413 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 39.40 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    FREM1, FRAS1 related extracellular matrix 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FREM1, FRAS1 related extracellular matrix 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2
  • Links
    NCBI Gene ID: 158326
    neXtProt AC: NX_Q5H8C1

  • Chr Location
    9p22.3; chr9:14734666-14911647 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 27049
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: FREM1
  • Gene Tree
Human Diseases
more
  • Diseases
    4 with Frem1 mouse models; 3 with human FREM1 associations

Human Disease Mouse Models
       Manitoba Oculotrichoanal Syndrome; MOTA   OMIM: 248450 View 1 model
       Chromosome 9p Deletion Syndrome   OMIM: 158170 View 2 models
Diaphragmatic Hernia, Congenital   OMIM: 142340 View 1 model
Fraser Syndrome   OMIM: 219000 View 4 models
       Bifid Nose with or without Anorectal and Renal Anomalies; BNAR   OMIM: 608980
Trigonocephaly 2; TRIGNO2   OMIM: 614485
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
    44 phenotypes from 7 alleles in 8 genetic backgrounds
    2 images
    17 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
    10
  • Chemically induced (ENU)
    4
  • Chemically induced (other)
    2
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    2
  • Genomic Mutations
    3 involving Frem1
  • Incidental Mutations
Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis.
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 OTTMUSG00000000404 VEGA Gene Model | MGI Sequence Detail 154413 C57BL/6J ±  kb
transcript OTTMUST00000000974 VEGA | MGI Sequence Detail 9690 Not Applicable  
polypeptide OTTMUSP00000000431 VEGA | MGI Sequence Detail 2172 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1198 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000007656 FRAS1-related extracellular matrix protein 1
  • InterPro Domains
    IPR001304 C-type lectin
    IPR016187 C-type lectin fold
    IPR016186 C-type lectin-like
    IPR032825 FRAS1-related extracellular matrix protein 1
    IPR003644 Na-Ca exchanger/integrin-beta4
Molecular
Reagents
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  • All nucleic 36
    cDNA 33
    Primer pair 3

    Microarray probesets 2
Other
Accession IDs
less
MGD-MRK-10691, MGI:2671571, MGI:3038384, MGI:96069
References
more
  • Summaries
    All 43
    Developmental Gene Expression 16
    Diseases 5
    Gene Ontology 8
    Phenotypes 17
  • Earliest
    J:64448 Varnum DS, et al., heb - head bleb. Mouse News Lett. 1976;55:16
  • Latest
    J:205063 Wiradjaja F, et al., Regulation of PDGFC signalling and extracellular matrix composition by FREM1 in mice. Dis Model Mech. 2013 Nov;6(6):1426-33

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
07/19/2016
MGI 6.04
The Jackson Laboratory