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    Frem2 Fras1 related extracellular matrix protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 242022, updated on 27-Nov-2024

    Summary

    Official Symbol
    Frem2provided by MGI
    Official Full Name
    Fras1 related extracellular matrix protein 2provided by MGI
    Primary source
    MGI:MGI:2444465
    See related
    Ensembl:ENSMUSG00000037016 AllianceGenome:MGI:2444465
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    my; ne; nv1; Gm409; b2b1562Clo; 6030440P17Rik; 8430406N05Rik
    Summary
    Predicted to enable metal ion binding activity. Involved in eye development. Acts upstream of or within several processes, including embryonic digit morphogenesis; heart development; and inner ear development. Located in basement membrane. Is expressed in several structures, including alimentary system; central nervous system; integumental system; intraembryonic coelom; and sensory organ. Used to study Fraser syndrome and isolated cryptophthalmia. Human ortholog(s) of this gene implicated in Fraser syndrome 2 and isolated cryptophthalmia. Orthologous to human FREM2 (FRAS1 related extracellular matrix 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bladder adult (RPKM 4.5), limb E14.5 (RPKM 2.9) and 18 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Frem2 in Genome Data Viewer
    Location:
    3 C; 3 25.24 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (53421359..53566014, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (53513938..53658593, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene stomatin (Epb7.2)-like 3 Neighboring gene predicted gene, 23675 Neighboring gene STARR-seq mESC enhancer starr_07661 Neighboring gene STARR-seq mESC enhancer starr_07663 Neighboring gene STARR-seq mESC enhancer starr_07665 Neighboring gene STARR-seq mESC enhancer starr_07666 Neighboring gene peptidylprolyl isomerase A pseudogene 3_416.1 Neighboring gene ribosomal protein S14 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    myelencephalic blebs
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell communication IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in eye development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in eye development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inner ear development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within morphogenesis of an epithelium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    FRAS1-related extracellular matrix protein 2
    Names
    ECM3 homolog
    NV domain containing protein NV1
    NV domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_172862.3NP_766450.2  FRAS1-related extracellular matrix protein 2 precursor

      See identical proteins and their annotated locations for NP_766450.2

      Status: VALIDATED

      Source sequence(s)
      AC138112, BC068185, BE864729, CF742372, CN530725, CN534900, CN536459
      Consensus CDS
      CCDS17348.1
      UniProtKB/Swiss-Prot
      Q4W2Q5, Q5H8C0, Q6NVD0, Q811G9, Q8C4G5, Q8CD46
      UniProtKB/TrEMBL
      Q1XGY5
      Related
      ENSMUSP00000088670.5, ENSMUST00000091137.6
      Conserved Domains (2) summary
      pfam16184
      Location:14711612
      Cadherin_3; Cadherin-like
      cl02522
      Location:19992091
      Calx-beta; Calx-beta domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      53421359..53566014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501462.5XP_006501525.1  FRAS1-related extracellular matrix protein 2 isoform X2

      Conserved Domains (1) summary
      pfam16184
      Location:15051612
      Cadherin_3; Cadherin-like
    2. XM_006501461.4XP_006501524.1  FRAS1-related extracellular matrix protein 2 isoform X1

      Conserved Domains (1) summary
      pfam16184
      Location:15051612
      Cadherin_3; Cadherin-like