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

Gene ID: 166752, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (143577302..143700675, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (146894539..147017927, complement)
105.20220307 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 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 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)

Genotypes

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_2023_10

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

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