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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:82816164-82970576 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 39.40 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4392 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2670972
 protein coding gene Chr4:82816157-82970743 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028401
 protein coding gene Chr4:82472052-82634680 (-)
A/J MGP_AJ_G0028362
 protein coding gene Chr4:79622648-79775377 (-)
AKR/J MGP_AKRJ_G0028311
 protein coding gene Chr4:81684282-81840357 (-)
BALB/cJ MGP_BALBcJ_G0028382
 protein coding gene Chr4:79852705-80007337 (-)
C3H/HeJ MGP_C3HHeJ_G0028097
 protein coding gene Chr4:82267115-82432904 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028821
 protein coding gene Chr4:85740502-85900635 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026121
 protein coding gene Chr4:75573774-75723970 (-)
CAST/EiJ MGP_CASTEiJ_G0027538
 protein coding gene Chr4:80167868-80332592 (-)
CBA/J MGP_CBAJ_G0028066
 protein coding gene Chr4:88398413-88557606 (-)
DBA/2J MGP_DBA2J_G0028215
 protein coding gene Chr4:79391861-79545525 (-)
FVB/NJ MGP_FVBNJ_G0028181
 protein coding gene Chr4:78390881-78546353 (-)
LP/J MGP_LPJ_G0028315
 protein coding gene Chr4:82822051-82981137 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028210
 protein coding gene Chr4:93491067-93657025 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028858
 protein coding gene Chr4:81736399-81896281 (-)
PWK/PhJ MGP_PWKPhJ_G0027261
 protein coding gene Chr4:77737073-77893423 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027086
 protein coding gene Chr4:79260008-79416175 (-)
WSB/EiJ MGP_WSBEiJ_G0027614
 protein coding gene Chr4:81913002-82076612 (-)



Homology
more
  • Human Ortholog
    FREM1, FRAS1 related extracellular matrix 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FREM1, FRAS1 related extracellular matrix 1
  • Synonyms
    BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2
  • Links
    NCBI Gene ID: 158326
    neXtProt AC: NX_Q5H8C1
    UniProt: Q5H8C1

  • Chr Location
    9p22.3; chr9:14737152-14910995 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Frem1 mouse models; 1 with human FREM1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 2 models
IDs
 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    50 phenotypes from 6 alleles in 7 genetic backgrounds
    1 phenotype from multigenic genotypes
    2 images
    19 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 mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    10
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
    919
  • Tissues
    131
  • cDNA Data
    34
  • Literature Summary
    20
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000059049 Ensembl Gene Model | MGI Sequence Detail 154413 C57BL/6J ±  kb
    transcript ENSMUST00000071708 Ensembl | MGI Sequence Detail 9307 Not Applicable  
    polypeptide ENSMUSP00000071627 Ensembl | MGI Sequence Detail 2191 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      cDNA 36
      Primer pair 6
      Other 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-10691, MGI:2671571, MGI:3038384, MGI:96069
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 20
      Diseases 4
      Gene Ontology 10
      Phenotypes 19
    • Earliest
      J:6609 Varnum DS, et al., Head blebs: a new mutation on chromosome 4 of the mouse. J Hered. 1981 Jul-Aug;72(4):293
    • Latest
      J:335090 McLaughlin MT, et al., Frem1 activity is regulated by Sonic hedgehog signaling in the cranial neural crest mesenchyme during midfacial morphogenesis. Dev Dyn. 2023 Apr;252(4):483-494
    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)
    Citing These Resources
    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