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    FREM3 FRAS1 related extracellular matrix 3 [ Homo sapiens (human) ]

    Gene ID: 166752, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FREM3provided by HGNC
    Official Full Name
    FRAS1 related extracellular matrix 3provided by HGNC
    Primary source
    HGNC:HGNC:25172
    See related
    Ensembl:ENSG00000183090 MIM:608946; AllianceGenome:HGNC:25172
    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
    Summary
    This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See FREM3 in Genome Data Viewer
    Location:
    4q31.21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (143577302..143700675, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (146894539..147017927, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (144498455..144621828, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21951 Neighboring gene SMARCA5 antisense RNA 1 Neighboring gene SNF2 related chromatin remodeling ATPase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21954 Neighboring gene GUSB pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:144621195-144621852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:144634585-144635086 Neighboring gene ethanolamine kinase 1 pseudogene Neighboring gene uncharacterized LOC105377458

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. FRAS1-related extracellular matrix 3 (FREM3) single-nucleotide polymorphism effects on gene expression, amygdala reactivity and perceptual processing speed: An accelerated aging pathway of depression risk. Nikolova YS, et al. Front Psychol, 2015. PMID 26441752, Free PMC Article
    2. The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype. Petrou P, et al. Connect Tissue Res, 2008. PMID 18661360
    3. A study of the combined effects of the EHD3 and FREM3 genes in patients with major depressive disorder. Shi C, et al. Am J Med Genet B Neuropsychiatr Genet, 2012 Apr. PMID 22337703
    4. The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. Smyth I, et al. Proc Natl Acad Sci U S A, 2004 Sep 14. PMID 15345741, Free PMC Article
    5. Proteomics analysis of cardiac extracellular matrix remodeling in a porcine model of ischemia/reperfusion injury. Barallobre-Barreiro J, et al. Circulation, 2012 Feb 14. PMID 22261194

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The combined effect of the EHD3 and FREM3 genes may play an important role in developing major depressive disorder.
      Title: A study of the combined effects of the EHD3 and FREM3 genes in patients with major depressive disorder.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell adhesion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell communication IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in basement membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with collagen-containing extracellular matrix TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular space HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    FRAS1-related extracellular matrix protein 3

    NCBI Reference Sequences (RefSeq)

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    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_052820.1 RefSeqGene

      Range
      5001..128374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168235.2 → NP_001161707.1  FRAS1-related extracellular matrix protein 3 precursor

      See identical proteins and their annotated locations for NP_001161707.1

      Status: REVIEWED

      Source sequence(s)
      AC139713, AI184955, AW953229, BE223071, DN831271, DR007885, DR731220, R44783
      Consensus CDS
      CCDS54808.1
      UniProtKB/Swiss-Prot
      P0C091
      Related
      ENSP00000332886.5, ENST00000329798.5
      Conserved Domains (4) summary
      TIGR00845
      Location:1775 → 1987
      caca; sodium/calcium exchanger 1
      cl02522
      Location:2011 → 2105
      Calx-beta; Calx-beta domain
      pfam16184
      Location:416 → 524
      Cadherin_3; Cadherin-like
      pfam19309
      Location:62 → 269
      Frem_N; Frem protein N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      143577302..143700675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      146894539..147017927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C091.2 GenPept UniProtKB/Swiss-Prot:P0C091

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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