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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

Entrez Gene Summary for FREM3 Gene

  • 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]

GeneCards Summary for FREM3 Gene

FREM3 (FRAS1 Related Extracellular Matrix 3) is a Protein Coding gene. Diseases associated with FREM3 include Fraser Syndrome and Glucosephosphate Dehydrogenase Deficiency. 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 CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G143625 0.7 ENCODE 16.7 +74.4 74389 1.5 NFIB BMI1 CBX5 EED RELB IKZF2 CREM MTA2 NR2F1 TRIM22 FREM3 LOC105377459 LOC101927636 PIR58407
GH04G143774 0.9 ENCODE 11 -73.5 -73478 0.1 HDGF CBX3 ATF1 RB1 TBL1XR1 ZNF2 RAD21 CHAMP1 ZNF143 CREM FREM3 LOC105377459 LOC100419356 LOC105377458
GH04G143558 0.9 ENCODE 10 +141.4 141374 1.5 PKNOX1 ATF1 ARID4B SIN3A ZNF48 RAD21 RFX5 YY1 TCF12 ZNF143 GUSBP5 FREM3 LOC105377459 ENSG00000248924
GH04G143768 0.6 ENCODE 11.3 -67.9 -67918 1.2 PRDM6 JUND JUN CREB1 FOS ATF2 LOC100419356 LOC105377459 FREM3 LOC105377458
GH04G143911 0.6 ENCODE 10.9 -211.5 -211507 0.8 POLR2A L3MBTL2 BACH1 ZBTB33 GATAD2B ETV6 ZFX RBFOX2 LOC100419356 FREM3 LOC105377459 GYPE LOC100420464
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

Post-translational modifications for FREM3 Gene

  • Glycosylation at isoforms=846, Asn1368, isoforms=1374, and isoforms=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

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.
Domain:
  • The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.
Family:
  • Belongs to the FRAS1 family.
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.

Gene Ontology (GO) - Molecular Function for FREM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FREM3: view

Phenotypes for FREM3 Gene

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

Animal Model Products

CRISPR Products

miRNA for FREM3 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FREM3 gene
Compartment Confidence
extracellular 5
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FREM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane ISS --
GO:0005615 extracellular space IDA 22664934
GO:0016021 integral component of membrane IEA --
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

Gene Ontology (GO) - Biological Process for FREM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007155 cell adhesion NAS 18661360
genes like me logo Genes that share ontologies with FREM3: view

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 :
-
(1) 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:

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of FREM3 Gene:

FREM3

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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia FREM3 34 35
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia FREM3 34
  • 82.8 (n)
-- 35
  • 17 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia FREM3 34
  • 82.25 (n)
-- 35
  • 15 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Frem3 34 16 35
  • 76.96 (n)
rat
(Rattus norvegicus)
Mammalia Frem3 34
  • 76.69 (n)
oppossum
(Monodelphis domestica)
Mammalia FREM3 35
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 13 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 15 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia FREM3 35
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii frem3 35
  • 40 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToMany
Species where no ortholog for FREM3 was found in the sources mined by GeneCards:
  • 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
rs1057518624 Uncertain significance 143,700,585(-) CCCCG(-/CGCTGCAGG)GACGG cds-indel
rs886043245 Uncertain significance 143,621,088(+) AGATC(A/G)TCTTA reference, stop-gained
rs1000023954 -- 143,681,647(+) CCACC(A/G)CATTG intron-variant
rs1000065034 -- 143,682,366(+) TTGTA(A/C)CTTTG intron-variant
rs1000074296 -- 143,690,531(+) CAACA(A/G)CAACA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2669991 CNV deletion 23128226
esv2728475 CNV deletion 23290073
esv2759288 CNV gain+loss 17122850
esv3564747 CNV deletion 23714750
esv3602511 CNV loss 21293372
esv3894047 CNV gain 25118596
esv4609 CNV loss 18987735
esv9197 CNV loss 19470904
nsv1114576 CNV deletion 24896259
nsv1161158 CNV duplication 26073780
nsv293188 CNV deletion 16902084
nsv428452 CNV loss 18775914
nsv4533 CNV insertion 18451855
nsv830103 CNV loss 17160897
nsv956927 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FREM3

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

Disorders for FREM3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fraser syndrome
  • cryptophthalmos syndrome
glucosephosphate dehydrogenase deficiency
  • deficiency of g-6pd
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 64
  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 22 64
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  4. 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. (PMID: 26441752) Nikolova Y.S. … Sibille E. (Front Psychol 2015) 3 64
  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 64

Products for FREM3 Gene

Sources for FREM3 Gene

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