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Aliases for FREM2 Gene

Aliases for FREM2 Gene

  • FRAS1 Related Extracellular Matrix Protein 2 2 3
  • ECM3 Homolog 4

External Ids for FREM2 Gene

Previous GeneCards Identifiers for FREM2 Gene

  • GC13P038159
  • GC13P039261
  • GC13P020059

Summaries for FREM2 Gene

Entrez Gene Summary for FREM2 Gene

  • 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]

GeneCards Summary for FREM2 Gene

FREM2 (FRAS1 Related Extracellular Matrix Protein 2) is a Protein Coding gene. Diseases associated with FREM2 include frem2-related fraser syndrome and unilateral renal agenesis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FREM3.

UniProtKB/Swiss-Prot for FREM2 Gene

  • Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion.

Gene Wiki entry for FREM2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FREM2 Gene

Genomics for FREM2 Gene

Regulatory Elements for FREM2 Gene

Genomic Location for FREM2 Gene

Start:
38,687,036 bp from pter
End:
38,887,131 bp from pter
Size:
200,096 bases
Orientation:
Plus strand

Genomic View for FREM2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FREM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FREM2 Gene

Proteins for FREM2 Gene

  • Protein details for FREM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SZK8-FREM2_HUMAN
    Recommended name:
    FRAS1-related extracellular matrix protein 2
    Protein Accession:
    Q5SZK8
    Secondary Accessions:
    • Q4QQG1
    • Q5H9N8
    • Q5T6Q1
    • Q6N057
    • Q6ZSB4
    • Q7Z305
    • Q7Z341

    Protein attributes for FREM2 Gene

    Size:
    3169 amino acids
    Molecular mass:
    351157 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC87040.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FREM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FREM2 Gene

Proteomics data for FREM2 Gene at MOPED

Post-translational modifications for FREM2 Gene

  • Glycosylation at Asn358, Asn1244, Asn1369, Asn1584, Asn1741, and Asn2121
  • Modification sites at PhosphoSitePlus

Other Protein References for FREM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FREM2 Gene

Domains for FREM2 Gene

Protein Domains for FREM2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FREM2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5SZK8

UniProtKB/Swiss-Prot:

FREM2_HUMAN :
  • Q5SZK8
Domain:
  • The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.
  • Contains 5 Calx-beta domains.
Family:
  • Belongs to the FRAS1 family.
Similarity:
  • Contains 12 CSPG (NG2) repeats.
genes like me logo Genes that share domains with FREM2: view

No data available for Gene Families for FREM2 Gene

Function for FREM2 Gene

Molecular function for FREM2 Gene

UniProtKB/Swiss-Prot Function: Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion.

Gene Ontology (GO) - Molecular Function for FREM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with FREM2: view
genes like me logo Genes that share phenotypes with FREM2: view

miRNA for FREM2 Gene

miRTarBase miRNAs that target FREM2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for FREM2 Gene

Localization for FREM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FREM2 Gene

Cell membrane; Single-pass type I membrane protein; Extracellular side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FREM2 Gene COMPARTMENTS Subcellular localization image for FREM2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FREM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with FREM2: view

Pathways for FREM2 Gene

SuperPathways for FREM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FREM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium IEA --
GO:0007154 cell communication IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0048839 inner ear development IEA --
genes like me logo Genes that share ontologies with FREM2: view

No data available for Pathways by source for FREM2 Gene

Compounds for FREM2 Gene

(1) HMDB Compounds for FREM2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with FREM2: view

Transcripts for FREM2 Gene

mRNA/cDNA for FREM2 Gene

Unigene Clusters for FREM2 Gene

FRAS1 related extracellular matrix protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FREM2 Gene

No ASD Table

Relevant External Links for FREM2 Gene

GeneLoc Exon Structure for
FREM2
ECgene alternative splicing isoforms for
FREM2

Expression for FREM2 Gene

mRNA expression in normal human tissues for FREM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FREM2 Gene

This gene is overexpressed in Kidney - Cortex (7.7), Thyroid (6.7), Pancreas (5.2), and Muscle - Skeletal (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FREM2 Gene

SOURCE GeneReport for Unigene cluster for FREM2 Gene Hs.253994

genes like me logo Genes that share expressions with FREM2: view

No data available for mRNA Expression by UniProt/SwissProt for FREM2 Gene

Orthologs for FREM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FREM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FREM2 35
  • 99.37 (n)
  • 99.27 (a)
FREM2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FREM2 35
  • 86.98 (n)
  • 90.59 (a)
FREM2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FREM2 35
  • 87.4 (n)
  • 89.61 (a)
FREM2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Frem2 35
  • 83.6 (n)
  • 88.52 (a)
Frem2 16
Frem2 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FREM2 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FREM2 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Frem2 35
  • 84.11 (n)
  • 89.06 (a)
chicken
(Gallus gallus)
Aves FREM2 35
  • 73.75 (n)
  • 77.7 (a)
FREM2 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 31 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496696 35
  • 70.78 (n)
  • 73.29 (a)
zebrafish
(Danio rerio)
Actinopterygii frem2a 36
  • 67 (a)
OneToMany
frem2b 35
  • 66.47 (n)
  • 69.9 (a)
frem2b 36
  • 69 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10028 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for FREM2:
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FREM2 Gene

ENSEMBL:
Gene Tree for FREM2 (if available)
TreeFam:
Gene Tree for FREM2 (if available)

Paralogs for FREM2 Gene

Paralogs for FREM2 Gene

Selected SIMAP similar genes for FREM2 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for FREM2 Gene

genes like me logo Genes that share paralogs with FREM2: view

Variants for FREM2 Gene

Sequence variations from dbSNP and Humsavar for FREM2 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs895899 -- 38,740,677(-) TGATG(C/T)CCACA intron-variant
rs895900 -- 38,726,336(-) AAACC(A/G)CCTCC intron-variant
rs963798 -- 38,815,556(+) ctgct(A/T)taaac intron-variant
rs990909 -- 38,716,432(-) AGAAG(A/G)TTTAA intron-variant
rs991093 -- 38,720,661(-) GGACC(A/G)AGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FREM2 Gene

Variant ID Type Subtype PubMed ID
nsv832584 CNV Gain 17160897
nsv832585 CNV Gain 17160897
esv2747282 CNV Deletion 23290073
nsv64239 CNV Loss 16902084
nsv507692 CNV Insertion 20534489
esv2665365 CNV Deletion 23128226
esv4433 CNV Deletion 18987735
esv2747283 CNV Deletion 23290073
esv2660903 CNV Deletion 23128226
nsv826623 CNV Loss 20364138
nsv819985 CNV Loss 19587683
esv272674 CNV Insertion 20981092
esv271338 CNV Insertion 20981092
nsv1008 CNV Loss 18451855

Relevant External Links for FREM2 Gene

HapMap Linkage Disequilibrium report
FREM2
Human Gene Mutation Database (HGMD)
FREM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FREM2 Gene

Disorders for FREM2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for FREM2 Gene including...

Search for FREM2 Gene in MalaCards »

(1) OMIM Diseases for FREM2 Gene (608945)

UniProtKB/Swiss-Prot

FREM2_HUMAN
  • Fraser syndrome (FRASS) [MIM:219000]: Multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects. {ECO:0000269 PubMed:15838507}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FREM2 Gene

(1) Novoseek inferred disease relationships for FREM2 Gene

Disease -log(P) Hits PubMed IDs
fraser syndrome 93.3 7

Relevant External Links for FREM2

Genetic Association Database (GAD)
FREM2
genes like me logo Genes that share disorders with FREM2: view

Publications for FREM2 Gene

  1. Molecular study of 33 families with Fraser syndrome new data and mutation review. (PMID: 18671281) van Haelst M.M. … Scambler P.J. (Am. J. Med. Genet. A 2008) 3 23
  2. 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
  3. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. (PMID: 15838507) Jadeja S. … Scambler P.J. (Nat. Genet. 2005) 3 4
  4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T. … Smith R.D. (J. Proteome Res. 2005) 3 4
  5. Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. (PMID: 21993531) Kuparinen T. … Hurme M. (Genes Immun. 2012) 3 48

Products for FREM2 Gene

Sources for FREM2 Gene

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