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    FREM2 FRAS1 related extracellular matrix protein 2 [ Homo sapiens (human) ]

    Gene ID: 341640, updated on 5-Nov-2017
    Official Symbol
    FREM2provided by HGNC
    Official Full Name
    FRAS1 related extracellular matrix protein 2provided by HGNC
    Primary source
    HGNC:HGNC:25396
    See related
    Ensembl:ENSG00000150893 MIM:608945; Vega:OTTHUMG00000016759
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FRASRS2
    Summary
    This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in kidney (RPKM 4.7), thyroid (RPKM 3.2) and 11 other tissues See more
    Orthologs
    Location:
    13q13.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (38687036..38887131)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (39261173..39461268)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 437 Neighboring gene uncharacterized LOC105370167 Neighboring gene long intergenic non-protein coding RNA 366 Neighboring gene peroxiredoxin 3 pseudogene 3 Neighboring gene RNA, U6 small nuclear 56, pseudogene Neighboring gene FREM2 antisense RNA 1 Neighboring gene phospholipase A2 group XIIA pseudogene 2 Neighboring gene ankyrin repeat domain 26 pseudogene 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Cryptophthalmos syndrome
    MedGen: C0265233 OMIM: 219000 GeneReviews: Not available
    Compare labs
    FRASER SYNDROME 2
    MedGen: CN464191 OMIM: 617666 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp781I048, DKFZp686J0811

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cell communication IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear development IEA
    Inferred from Electronic Annotation
    more info
     
    morphogenesis of an epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    FRAS1-related extracellular matrix protein 2
    Names
    ECM3 homolog

    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.

    Genomic

    1. NG_008125.2 RefSeqGene

      Range
      5001..205096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_207361.5NP_997244.4  FRAS1-related extracellular matrix protein 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AL354819, BN000687, BX640686, CN291155, KF455770
      Consensus CDS
      CCDS31960.1
      UniProtKB/Swiss-Prot
      Q5SZK8
      Related
      ENSP00000280481.7, OTTHUMP00000018288, ENST00000280481.8, OTTHUMT00000044599
      Conserved Domains (2) summary
      pfam16184
      Location:14821623
      Cadherin_3; Cadherin-like
      cl02522
      Location:22492341
      Calx-beta; Calx-beta domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

      Range
      38687036..38887131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020554.1XP_016876043.1  FRAS1-related extracellular matrix protein 2 isoform X1

    RNA

    1. XR_941571.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      39228938..39428968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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