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Aliases for FRAS1 Gene

Aliases for FRAS1 Gene

  • Fraser Extracellular Matrix Complex Subunit 1 2 3 5
  • Fraser Syndrome 1 2
  • KIAA1500 4

External Ids for FRAS1 Gene

Previous GeneCards Identifiers for FRAS1 Gene

  • GC00U900628
  • GC04P079732
  • GC04P079437
  • GC04P079336
  • GC04P079198
  • GC04P078978
  • GC04P074729

Summaries for FRAS1 Gene

Entrez Gene Summary for FRAS1 Gene

  • This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for FRAS1 Gene

FRAS1 (Fraser Extracellular Matrix Complex Subunit 1) is a Protein Coding gene. Diseases associated with FRAS1 include Fraser Syndrome and Renal Agenesis, Unilateral. Among its related pathways are ERK Signaling and Phospholipase-C Pathway. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FREM3.

Gene Wiki entry for FRAS1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRAS1 Gene

Genomics for FRAS1 Gene

Regulatory Elements for FRAS1 Gene

Enhancers for FRAS1 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 FRAS1 on UCSC Golden Path with GeneCards custom track

Promoters for FRAS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FRAS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FRAS1 Gene

78,056,968 bp from pter
78,544,269 bp from pter
487,302 bases
Plus strand

Genomic View for FRAS1 Gene

Genes around FRAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRAS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRAS1 Gene

Proteins for FRAS1 Gene

  • Protein details for FRAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Extracellular matrix protein FRAS1
    Protein Accession:
    Secondary Accessions:
    • A2RRR8
    • Q86UZ4
    • Q8N3U9
    • Q8NAU7
    • Q96JW7
    • Q9H6N9
    • Q9P228

    Protein attributes for FRAS1 Gene

    4008 amino acids
    Molecular mass:
    443214 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB15216.1; Type=Frameshift; Positions=1858, 1951; Evidence={ECO:0000305};

    Alternative splice isoforms for FRAS1 Gene


neXtProt entry for FRAS1 Gene

Proteomics data for FRAS1 Gene at MOPED

Post-translational modifications for FRAS1 Gene

  • Glycosylation at Asn 361, Asn 728, Asn 1093, Asn 1108, Asn 1504, Asn 1777, Asn 1948, Asn 1978, Thr 2331, Asn 2563, Asn 2664, Asn 2682, Asn 2908, Asn 2985, Asn 3070, Asn 3218, Asn 3676, and Asn 3875
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FRAS1 Gene

Domains & Families for FRAS1 Gene

Suggested Antigen Peptide Sequences for FRAS1 Gene

Graphical View of Domain Structure for InterPro Entry



  • 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.
  • The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.
  • Contains 5 Calx-beta domains.
  • Contains 6 VWFC domains.
  • Belongs to the FRAS1 family.
  • Contains 12 CSPG (NG2) repeats.
  • Contains 14 FU (furin-like) repeats.
genes like me logo Genes that share domains with FRAS1: view

No data available for Gene Families for FRAS1 Gene

Function for FRAS1 Gene

Gene Ontology (GO) - Molecular Function for FRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with FRAS1: view
genes like me logo Genes that share phenotypes with FRAS1: view

Human Phenotype Ontology for FRAS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FRAS1 Gene

MGI Knock Outs for FRAS1:

Animal Model Products

CRISPR Products

miRNA for FRAS1 Gene

miRTarBase miRNAs that target FRAS1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FRAS1 Gene

Localization for FRAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRAS1 Gene

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

Subcellular locations from

Jensen Localization Image for FRAS1 Gene COMPARTMENTS Subcellular localization image for FRAS1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
nucleus 2

Gene Ontology (GO) - Cellular Components for FRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with FRAS1: view

Pathways & Interactions for FRAS1 Gene

genes like me logo Genes that share pathways with FRAS1: view

Pathways by source for FRAS1 Gene

Interacting Proteins for FRAS1 Gene

Selected Interacting proteins: Q86XX4-FRAS1_HUMAN for FRAS1 Gene via MINT I2D

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for FRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003338 metanephros morphogenesis IEA --
GO:0030326 embryonic limb morphogenesis IEA --
GO:0060021 palate development IEA --
genes like me logo Genes that share ontologies with FRAS1: view

No data available for SIGNOR curated interactions for FRAS1 Gene

Drugs & Compounds for FRAS1 Gene

(1) Drugs for FRAS1 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 FRAS1: view

Transcripts for FRAS1 Gene

Unigene Clusters for FRAS1 Gene

Fraser syndrome 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FRAS1 Gene

No ASD Table

Relevant External Links for FRAS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FRAS1 Gene

mRNA expression in normal human tissues for FRAS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FRAS1 Gene

This gene is overexpressed in Thyroid (x4.4).

Protein differential expression in normal tissues from HIPED for FRAS1 Gene

This gene is overexpressed in Pancreas (27.3) and Amniocyte (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for FRAS1 Gene

SOURCE GeneReport for Unigene cluster for FRAS1 Gene Hs.369448

mRNA Expression by UniProt/SwissProt for FRAS1 Gene

Tissue specificity: Expressed in many adult tissues, with highest levels in kidney, pancreas and thalamus. Relatively high expression was also detected in fetal kidney and heart.
genes like me logo Genes that share expression patterns with FRAS1: view

Primer Products

No data available for Protein tissue co-expression partners for FRAS1 Gene

Orthologs for FRAS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FRAS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia FRAS1 35
  • 88.97 (n)
  • 89.23 (a)
FRAS1 36
  • 88 (a)
(Mus musculus)
Mammalia Fras1 35
  • 84.5 (n)
  • 85.05 (a)
Fras1 16
Fras1 36
  • 85 (a)
(Pan troglodytes)
Mammalia FRAS1 35
  • 99.3 (n)
  • 99.05 (a)
FRAS1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Fras1 35
  • 84.43 (n)
  • 84.77 (a)
(Bos Taurus)
Mammalia FRAS1 36
  • 85 (a)
(Monodelphis domestica)
Mammalia FRAS1 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia FRAS1 36
  • 63 (a)
(Gallus gallus)
Aves FRAS1 35
  • 71.28 (n)
  • 70.06 (a)
FRAS1 36
  • 70 (a)
(Anolis carolinensis)
Reptilia FRAS1 36
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fras1 35
  • 67.75 (n)
  • 66.93 (a)
(Danio rerio)
Actinopterygii fras1 35
  • 64.55 (n)
  • 62.57 (a)
fras1 36
  • 62 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
Species with no ortholog for FRAS1:
  • 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 FRAS1 Gene

Gene Tree for FRAS1 (if available)
Gene Tree for FRAS1 (if available)

Paralogs for FRAS1 Gene

Paralogs for FRAS1 Gene Pseudogenes for FRAS1 Gene

genes like me logo Genes that share paralogs with FRAS1: view

Variants for FRAS1 Gene

Sequence variations from dbSNP and Humsavar for FRAS1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs17003071 - 78,237,561(+) ATGGT(C/G)ATATT reference, missense
rs7699637 - 78,265,046(+) GAGTC(C/T)CTGGA reference, missense
rs7682296 - 78,265,103(+) AAGTA(C/T)ACGAG reference, missense
rs6848030 - 78,266,873(+) CGTGT(A/G)TATGT reference, missense
rs6838959 - 78,284,435(+) ATGCT(A/C)TCAGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FRAS1 Gene

Variant ID Type Subtype PubMed ID
nsv7363 OTHER Inversion 18451855
nsv516836 CNV Gain 19592680
nsv4396 CNV Loss 18451855
nsv520625 CNV Gain 19592680
nsv525530 CNV Gain 19592680
esv2240939 CNV Deletion 18987734
esv2727856 CNV Deletion 23290073
nsv879502 CNV Loss 21882294
nsv829977 CNV Loss 17160897
esv2661198 CNV Deletion 23128226
nsv879503 CNV Loss 21882294
esv2666107 CNV Deletion 23128226
nsv829978 CNV Gain 17160897
esv273327 CNV Insertion 20981092
esv271773 CNV Insertion 20981092
nsv291328 CNV Insertion 16902084
esv1262316 CNV Insertion 17803354
nsv818246 CNV Gain 17921354
esv8548 CNV Gain 19470904
esv26493 CNV Loss 19812545
esv274552 CNV Insertion 20981092
esv268611 CNV Insertion 20981092
nsv4399 CNV Loss 18451855
esv2672233 CNV Deletion 23128226
nsv524023 CNV Loss 19592680
esv28163 CNV Loss 19812545
nsv508290 CNV Loss 20534489
esv2727857 CNV Deletion 23290073
nsv292160 CNV Loss 16902084
nsv819290 CNV Loss 19587683
dgv95n16 CNV Deletion 17901297
esv990445 CNV Deletion 20482838
esv2446951 CNV Deletion 19546169
nsv513140 CNV Loss 21212237
esv2116983 CNV Deletion 18987734
esv2727858 CNV Deletion 23290073
esv4751 CNV Deletion 18987735
nsv499049 CNV Loss 21111241
esv8840 CNV Loss 19470904
esv2516235 CNV Insertion 19546169
esv270124 CNV Insertion 20981092
esv274682 CNV Insertion 20981092
esv2668338 CNV Deletion 23128226
esv27121 CNV Loss 19812545
esv268025 CNV Insertion 20981092
esv273460 CNV Insertion 20981092
esv259733 OTHER Complex 20981092
esv274248 CNV Insertion 20981092
esv270686 CNV Insertion 20981092
nsv290709 CNV Loss 16902084
nsv4400 CNV Insertion 18451855
esv270847 CNV Insertion 20981092
esv24539 CNV Loss 19812545
esv275267 CNV Gain+Loss 21479260
nsv822625 CNV Loss 20364138
nsv822626 CNV Loss 20364138
esv27534 CNV Loss 19812545

Variation tolerance for FRAS1 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.04; 98.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FRAS1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRAS1 Gene

Disorders for FRAS1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for FRAS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fraser syndrome
  • cryptophthalmos syndrome
renal agenesis, unilateral
fras1-related fraser syndrome
microphthalmia, syndromic 9
  • microphthalmia, isolated, with coloboma 8
- elite association - COSMIC cancer census association via MalaCards
Search FRAS1 in MalaCards View complete list of genes associated with diseases


  • Fraser syndrome (FRASS) [MIM:219000]: Multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects. {ECO:0000269 PubMed:23473829}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FRAS1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FRAS1: view

No data available for Genatlas for FRAS1 Gene

Publications for FRAS1 Gene

  1. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. (PMID: 12766769) McGregor L.K. … Scambler P.J. (Nat. Genet. 2003) 2 3 4 23 67
  2. The clinical spectrum of the Fraser syndrome: report of three new cases and review. (PMID: 3118036) Gattuso J. … Baraitser M. (J. Med. Genet. 1987) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. (PMID: 24700879) Kohl S. … Hildebrandt F. (J. Am. Soc. Nephrol. 2014) 3
  5. A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. (PMID: 22283518) Ng W.Y. … Jamieson R.V. (Clin. Genet. 2013) 3

Products for FRAS1 Gene

Sources for FRAS1 Gene