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Aliases for FREM3 Gene

Aliases for FREM3 Gene

  • FRAS1 Related Extracellular Matrix 3 2 3 5

External Ids for FREM3 Gene

Previous GeneCards Identifiers for FREM3 Gene

  • GC04M144849
  • GC04M144717
  • GC04M144498
  • GC04M140228

Summaries for FREM3 Gene

GeneCards Summary for FREM3 Gene

FREM3 (FRAS1 Related Extracellular Matrix 3) is a Protein Coding gene. Diseases associated with FREM3 include Fraser Syndrome and Renal Hypodysplasia/Aplasia 1. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FREM2.

UniProtKB/Swiss-Prot for FREM3 Gene

  • Extracellular matrix protein which may play a role in cell adhesion.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FREM3 Gene

Genomics for FREM3 Gene

Regulatory Elements for FREM3 Gene

Enhancers for FREM3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FREM3 on UCSC Golden Path with GeneCards custom track

Promoters for FREM3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FREM3 on UCSC Golden Path with GeneCards custom track

Genomic Location for FREM3 Gene

Chromosome:
4
Start:
143,577,302 bp from pter
End:
143,700,675 bp from pter
Size:
123,374 bases
Orientation:
Minus strand

Genomic View for FREM3 Gene

Genes around FREM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FREM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FREM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FREM3 Gene

Proteins for FREM3 Gene

  • Protein details for FREM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C091-FREM3_HUMAN
    Recommended name:
    FRAS1-related extracellular matrix protein 3
    Protein Accession:
    P0C091

    Protein attributes for FREM3 Gene

    Size:
    2139 amino acids
    Molecular mass:
    238179 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FREM3 Gene

Proteomics data for FREM3 Gene at MOPED

Post-translational modifications for FREM3 Gene

  • Glycosylation at Asn 846, Asn 1368, Asn 1374, and Asn 1588
  • Modification sites at PhosphoSitePlus

Other Protein References for FREM3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FREM3 Gene

Domains & Families for FREM3 Gene

Protein Domains for FREM3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FREM3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C091

UniProtKB/Swiss-Prot:

FREM3_HUMAN :
  • The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.
  • Belongs to the FRAS1 family.
  • Contains 12 CSPG (NG2) repeats.
Domain:
  • The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.
  • Contains 3 Calx-beta domains.
Family:
  • Belongs to the FRAS1 family.
Similarity:
  • Contains 12 CSPG (NG2) repeats.
genes like me logo Genes that share domains with FREM3: view

No data available for Gene Families for FREM3 Gene

Function for FREM3 Gene

Molecular function for FREM3 Gene

UniProtKB/Swiss-Prot Function:
Extracellular matrix protein which may play a role in cell adhesion.

Phenotypes for FREM3 Gene

GenomeRNAi human phenotypes for FREM3:
genes like me logo Genes that share phenotypes with FREM3: view

Animal Model Products

miRNA for FREM3 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FREM3 Gene

Localization for FREM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FREM3 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FREM3 Gene COMPARTMENTS Subcellular localization image for FREM3 gene
Compartment Confidence
extracellular 5
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for FREM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031012 colocalizes_with extracellular matrix TAS 22261194
genes like me logo Genes that share ontologies with FREM3: view

Pathways & Interactions for FREM3 Gene

SuperPathways for FREM3 Gene

No Data Available

Interacting Proteins for FREM3 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000332886%0d%0a9606.ENSP00000262623%0d%0a9606.ENSP00000311489%0d%0a
Selected Interacting proteins: ENSP00000332886 for FREM3 Gene via STRING

Gene Ontology (GO) - Biological Process for FREM3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FREM3 Gene

Drugs & Compounds for FREM3 Gene

(1) Drugs for FREM3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with FREM3: view

Transcripts for FREM3 Gene

mRNA/cDNA for FREM3 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FREM3 Gene

FRAS1 related extracellular matrix 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FREM3 Gene

No ASD Table

Relevant External Links for FREM3 Gene

GeneLoc Exon Structure for
FREM3
ECgene alternative splicing isoforms for
FREM3

Expression for FREM3 Gene

mRNA expression in normal human tissues for FREM3 Gene

mRNA differential expression in normal tissues according to GTEx for FREM3 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x13.8), Brain - Cortex (x13.0), and Brain - Frontal Cortex (BA9) (x12.5).

Protein differential expression in normal tissues from HIPED for FREM3 Gene

This gene is overexpressed in Gallbladder (28.3), Nasopharynx (9.9), Urinary Bladder (6.5), and Adrenal (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FREM3 Gene



SOURCE GeneReport for Unigene cluster for FREM3 Gene Hs.252714

genes like me logo Genes that share expression patterns with FREM3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for FREM3 Gene

Orthologs for FREM3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FREM3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FREM3 35
  • 82.25 (n)
  • 74.06 (a)
-- 36
  • 15 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia FREM3 35
  • 82.8 (n)
  • 75.83 (a)
-- 36
  • 17 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Frem3 35
  • 76.96 (n)
  • 69.13 (a)
Frem3 16
Frem3 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FREM3 35
  • 99.25 (n)
  • 98.92 (a)
FREM3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Frem3 35
  • 76.69 (n)
  • 69.2 (a)
oppossum
(Monodelphis domestica)
Mammalia FREM3 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 13 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 15 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia FREM3 36
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii frem3 36
  • 40 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for FREM3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FREM3 Gene

ENSEMBL:
Gene Tree for FREM3 (if available)
TreeFam:
Gene Tree for FREM3 (if available)

Paralogs for FREM3 Gene

Paralogs for FREM3 Gene

(2) SIMAP similar genes for FREM3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FREM3: view

Variants for FREM3 Gene

Sequence variations from dbSNP and Humsavar for FREM3 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs4478130 - 143,699,442(+) GCCGT(C/T)TCCGT reference, missense
rs184496 - 143,699,427(+) GGGGT(C/T)TGAGG reference, missense
rs167882 -- 143,695,578(+) CTTCA(A/G)AAGCC reference, synonymous-codon
rs179191 -- 143,680,930(+) CAGCC(A/C)CCTAA intron-variant
rs179192 -- 143,675,787(-) ttcta(A/G)atttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FREM3 Gene

Variant ID Type Subtype PubMed ID
dgv1681e1 CNV Complex 17122850
dgv1682e1 CNV Complex 17122850
dgv1683e1 CNV Complex 17122850
dgv1684e1 CNV Complex 17122850
nsv830103 CNV Loss 17160897
nsv4533 CNV Insertion 18451855
esv4609 CNV Deletion 18987735
esv2728475 CNV Deletion 23290073
esv2669991 CNV Deletion 23128226
nsv293188 CNV Loss 16902084
esv9197 CNV Loss 19470904
nsv428452 CNV Loss 18775914

Variation tolerance for FREM3 Gene

Gene Damage Index Score: 9.92; 89.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FREM3 Gene

Human Gene Mutation Database (HGMD)
FREM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FREM3 Gene

Disorders for FREM3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FREM3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
fraser syndrome
  • cryptophthalmos syndrome
renal hypodysplasia/aplasia 1
  • renal agenesis
- elite association - COSMIC cancer census association via MalaCards
Search FREM3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FREM3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FREM3
genes like me logo Genes that share disorders with FREM3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FREM3 Gene

Publications for FREM3 Gene

  1. The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. (PMID: 15345741) Smyth I. … Jackson I.J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 2 3 4 67
  2. The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype. (PMID: 18661360) Petrou P. … Chalepakis G. (Connect. Tissue Res. 2008) 3 23
  3. Proteomics analysis of cardiac extracellular matrix remodeling in a porcine model of ischemia/reperfusion injury. (PMID: 22261194) Barallobre-Barreiro J. … Mayr M. (Circulation 2012) 3
  4. A study of the combined effects of the EHD3 and FREM3 genes in patients with major depressive disorder. (PMID: 22337703) Shi C. … Xu Q. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2012) 3
  5. Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. (PMID: 22664934) BAPhm D. … Grus F.H. (Oncol. Rep. 2012) 3

Products for FREM3 Gene

Sources for FREM3 Gene

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