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Frem2 Gene Detail
 Symbol
Name
ID
Frem2
Fras1 related extracellular matrix protein 2
MGI:2444465


Nomenclature History
Synonyms 6030440P17Rik, 8430406N05Rik, my
Genetic Map
Chromosome 3
29.9 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 5)

Sequence Map
Chr3:53317861-53461277 bp, - strand
(From Ensembl annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Frem2 ± 2 cM)
TreeFam: TF316876
Sequences
Representative Sequences Length Strain/Species Flank
genomic ENSMUSG00000037016 Ensembl Gene Model | MGI Sequence Detail 143417 C57BL/6J ± Kb
transcript NM_172862 RefSeq | MGI Sequence Detail 12368 C57BL/6
polypeptide Q6NVD0 UniProt | EBI | MGI Sequence Detail 3160 Not Applicable
For the selected sequences
All sequences(27)
Alleles
and
phenotypes
All alleles(5) : Gene trapped(2) Spontaneous(1) Chemically induced(1) Radiation induced(1)
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.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (3)   Phenotype Images (2)  
Polymorphisms SNPs within 2kb(1092 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(15)
Process cell adhesion, cell communication...
Component basement membrane, integral to membrane...
Function calcium ion binding, metal ion binding...
External Resources: MouseFunc
Expression Literature Summary: (6 records)
Data Summary: Assays (1)    Results (25)    Tissues (25)    Images (15)
Theiler Stages: 17,20,21,22,23,24
  Assay Type Assays   Results
      Immunohistochemistry 1   25
cDNA source data(55)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(55) cDNA(55) Antibodies(1)
Microarray probesets(1)
Other database
links
Ensembl Gene Model ENSMUSG00000037016
DoTS DT.101358511, DT.97388306, DT.99853356
UniGene 38378
DFCI TC1582963, TC1590105, TC1659428, TC1678862
NIA Mouse Gene Index U024049
Entrez Gene 242022
International Mouse Knockout Project Status Frem2
Protein
domains
InterPro ID Description
IPR002126 Cadherin
IPR003644 Na-Ca exchanger/integrin-beta4
Graphical View of Protein Domain Structure
References
(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:142530 Pitera JE et al., "Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli." Hum Mol Genet 2008 Dec 15;17(24):3953-64
All references(22)
Other
accession IDs
MGD-MRK-12734, MGI:1918727, MGI:97248

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
11/20/2009
MGI_4.31
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The Jackson Laboratory