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

    Gene ID: 341640, updated on 23-Nov-2023

    Summary

    Official Symbol
    FREM2provided by HGNC
    Official Full Name
    FRAS1 related extracellular matrix 2provided by HGNC
    Primary source
    HGNC:HGNC:25396
    See related
    Ensembl:ENSG00000150893 MIM:608945; AllianceGenome:HGNC:25396
    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
    CRYPTOP; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FREM2 in Genome Data Viewer
    Location:
    13q13.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (38687077..38887131)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (37903789..38103862)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (39261214..39461268)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 437 Neighboring gene long intergenic non-protein coding RNA 366 Neighboring gene Sharpr-MPRA regulatory region 5265 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:39198858-39199419 Neighboring gene peroxiredoxin 3 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 9586 Neighboring gene RNA, U6 small nuclear 56, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr13:39378565-39379066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7596 Neighboring gene FREM2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5274 Neighboring gene phospholipase A2 group XIIA pseudogene 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:39495093-39496292 Neighboring gene ankyrin repeat domain 26 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Fraser syndrome 2
    MedGen: C4540036 OMIM: 617666 GeneReviews: Not available
    Compare labs
    Isolated cryptophthalmia
    MedGen: C1852453 OMIM: 123570 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781I048, DKFZp686J0811

    Gene Ontology Provided by GOA

    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell communication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in morphogenesis of an epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    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
    FRAS1 related extracellular matrix protein 2

    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.

    Genomic

    1. NG_008125.2 RefSeqGene

      Range
      5042..205096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_207361.6NP_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
      Q4QQG1, Q5H9N8, Q5SZK8, Q5T6Q1, Q6N057, Q6ZSB4, Q7Z305, Q7Z341
      Related
      ENSP00000280481.7, ENST00000280481.9
      Conserved Domains (2) summary
      pfam16184
      Location:14821623
      Cadherin_3; Cadherin-like
      cl02522
      Location:22492341
      Calx-beta; Calx-beta domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      38687077..38887131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    RNA

    1. XR_941571.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      37903789..38103862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374491.1XP_054230466.1  FRAS1-related extracellular matrix protein 2 isoform X1

    RNA

    1. XR_008488759.1 RNA Sequence