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FREM1 Gene

protein-coding   GIFtS: 56
GCID: GC09M014730

FRAS1 Related Extracellular Matrix 1

(Previous name: chromosome 9 open reading frame 154)
(Previous symbol: C9orf154)
  See FREM1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
FRAS1 Related Extracellular Matrix 11 2     TRIGNO22 5
C9orf1541 2 3 5     Chromosome 9 Open Reading Frame 1541
C9orf1432 3     TILRR2
C9orf1452 3     Extracellular Matrix Protein QBRICK2
BNAR2 5     FRAS1-Related Extracellular Matrix Protein 12
MOTA2 5     Protein QBRICK3

External Ids:    HGNC: 233991   Entrez Gene: 1583262   Ensembl: ENSG000001649467   OMIM: 6089445   UniProtKB: Q5H8C13   

Export aliases for FREM1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FREM1 Gene:
This gene encodes a basement membrane protein that may play a role in craniofacial and renal development.
Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies.
Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113
describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter
isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the
interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor
signal transduction, contributing to the control of inflammatory response activation. (provided by RefSeq, Apr
2011)

GeneCards Summary for FREM1 Gene:
FREM1 (FRAS1 related extracellular matrix 1) is a protein-coding gene. Diseases associated with FREM1 include bifid nose with or without anorectal and renal anomalies, and trigonocephaly 2. GO annotations related to this gene include carbohydrate binding. An important paralog of this gene is FREM2.

UniProtKB/Swiss-Prot: FREM1_HUMAN, Q5H8C1
Function: Extracellular matrix protein that plays a role in epidermal differentiation and is required for
epidermal adhesion during embryonic development (By similarity)

Gene Wiki entry for FREM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FREM1 gene promoter:
         NF-1   AML1a   Pax-6   Lmo2   CUTL1   STAT5A   C/EBPalpha   CHOP-10   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FREM1 promoter sequence
   Search Chromatin IP Primers for FREM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FREM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p22.3   Ensembl cytogenetic band:  9p22.3   HGNC cytogenetic band: 9p22.3

FREM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FREM1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M014730:  view genomic region     (about GC identifiers)

Start:
14,734,664 bp from pter      End:
14,910,993 bp from pter
Size:
176,330 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FREM1_HUMAN, Q5H8C1 (See protein sequence)
Recommended Name: FRAS1-related extracellular matrix protein 1 precursor  
Size: 2179 amino acids; 244154 Da
Miscellaneous: Was termed QBRICK because it contains 12 repeats: 'Q' stands for queen and is taken from the queen
being the 12th in a suit of playing card, and 'BRICK' stands for the repeating unit
Sequence caution: Sequence=AAH31064.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAH71826.2; Type=Erroneous gene model prediction;
Secondary accessions: B7ZBX4 Q5VV00 Q5VV01 Q6MZI4 Q8NEG9 Q96LI3
Alternative splicing: 4 isoforms:  Q5H8C1-1   Q5H8C1-2   Q5H8C1-3   Q5H8C1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FREM1: NX_Q5H8C1

Explore proteomics data for FREM1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn335, Asn560, Asn622, Asn1014, Asn1566

  • See FREM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171175.1  NP_659403.4  

    ENSEMBL proteins: 
     ENSP00000370278   ENSP00000370257   ENSP00000412597   ENSP00000370262   ENSP00000370263  
     ENSP00000412940  

    FREM1 Human Recombinant Protein Products:

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    antibodies-online peptides for FREM1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR003644 Calx_beta
     IPR016187 C-type_lectin_fold
     IPR016186 C-type_lectin-like
     IPR001304 C-type_lectin

    Graphical View of Domain Structure for InterPro Entry Q5H8C1

    ProtoNet protein and cluster: Q5H8C1

    UniProtKB/Swiss-Prot: FREM1_HUMAN, Q5H8C1
    Domain: The Calx-beta domain binds calcium with high affinity and undergo a major conformational shift upon
    binding (By similarity)
    Similarity: Belongs to the FRAS1 family
    Similarity: Contains 1 C-type lectin domain
    Similarity: Contains 1 Calx-beta domain
    Similarity: Contains 12 CSPG (NG2) repeats


    Find genes that share domains with FREM1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FREM1_HUMAN, Q5H8C1
    Function: Extracellular matrix protein that plays a role in epidermal differentiation and is required for
    epidermal adhesion during embryonic development (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ----
    GO:0030246carbohydrate binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with FREM1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FREM1:
     Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 7 alleles(MGI details for Frem1) (see all 16):
     craniofacial  digestive/alimentary  endocrine/exocrine gland  growth/size/body  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 
     normal  renal/urinary system  reproductive system  respiratory system  skeleton 

    Find genes that share phenotypes with FREM1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Frem1tm1Ksek for FREM1

       genOway: Develop your customized and physiologically relevant rodent model for FREM1

    miRNA
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    miRTarBase miRNAs that target FREM1:
    hsa-mir-335-5p (MIRT017119)

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    Selected qRT-PCR Assays for microRNAs that regulate FREM1 (see all 24):
    hsa-miR-539 hsa-miR-429 hsa-miR-29a hsa-miR-29c hsa-miR-1271 hsa-miR-374a hsa-miR-340 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidFREM1 3' UTR sequence
    Inhib. RNA
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FREM1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FREM1_HUMAN, Q5H8C1: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity).
    Note=Localizes at the basement membrane zone of embryonic epidermis and hair follicles (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    plasma membrane2
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with FREM1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FREM1
    Interactions:

        Search GeneGlobe Interaction Network for FREM1

    2 Interacting proteins for FREM1 (Q5H8C13) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STK3Q131883I2D: score=2 
    IL1R1P147783I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007154cell communication IEA--
    GO:0007160cell-matrix adhesion IEA--
    GO:0097094craniofacial suture morphogenesis IMP--

    Find genes that share ontologies with FREM1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FREM1

    1 HMDB Compound for FREM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FREM1 gene (2 alternative transcripts): 
    NM_001177704.1  NM_144966.5  

    Unigene Cluster for FREM1:

    FRAS1 related extracellular matrix 1
    Hs.50850  [show with all ESTs]
    Unigene Representative Sequence: NM_144966
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380894 ENST00000380875 ENST00000427623 ENST00000380880 ENST00000486223
    ENST00000485068 ENST00000466679 ENST00000497634 ENST00000380881 ENST00000422223(uc003zlk.3 uc003zll.3 uc003zlm.3 uc010mic.3)

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    Selected qRT-PCR Assays for microRNAs that regulate FREM1 (see all 24):
    hsa-miR-539 hsa-miR-429 hsa-miR-29a hsa-miR-29c hsa-miR-1271 hsa-miR-374a hsa-miR-340 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidFREM1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat FREM1

    Additional mRNA sequence: 

    AB160987.1 AK054690.1 AK058190.1 BC031064.1 BX537574.1 BX648240.1 

    7 DOTS entries:

    DT.101971091  DT.106197  DT.91951299  DT.95367191  DT.452257  DT.75117215  DT.40124244 

    Selected AceView cDNA sequences (see all 63):

    AL599598 AA495874 BX112086 BM682054 AA706038 AI284180 AK058190 AA977105 
    BI461171 BF589960 AI263501 AI453580 AI802401 AW237665 AA424802 AA779460 
    AL709204 BX537574 BP371549 BM729125 NM_144966 AI374957 BP368867 BI767662 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FREM1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c · 16d
    SP1:              -                             -     -                                         -                 -                           
    SP2:                                            -     -     -     -                                               -                           
    SP3:                                                                                            -                 -                           
    SP4:              -                                                                                                                           
    SP5:                                                                                            -                                             


    ECgene alternative splicing isoforms for FREM1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FREM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGCCACTG
    FREM1 Expression
    About this image


    FREM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             hIPS1
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Definitive endoderm-like cells
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Primitive Streak (Early Embryonic Tissues)
             Primitive streak-like cells
    FREM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FREM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.50850
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FREM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FREM1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Frem11 , 5 Fras1 related extracellular matrix protein 11, 5 81.88(n)1
    78.83(a)1
      4 (39.40 cM)5
    3298721  NM_001198811.11  NP_001185740.11 
     828979275 
    chicken
    (Gallus gallus)
    Aves FREM11 FRAS1 related extracellular matrix 1 70.18(n)
    67.75(a)
      427355  XM_424932.4  XP_424932.2 
    lizard
    (Anolis carolinensis)
    Reptilia FREM16
    FRAS1 related extracellular matrix 1
    64(a)
    1 ↔ 1
    2(34582468-34675284)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004885231 FRAS1-related extracellular matrix protein 1-like 64.85(n)
    61.39(a)
      100488523  XM_002939090.2  XP_002939136.2 
    zebrafish
    (Danio rerio)
    Actinopterygii frem1a1 Fras1 related extracellular matrix 1a 60.03(n)
    54.03(a)
      100216326  NM_001190308.1  NP_001177237.1 


    ENSEMBL Gene Tree for FREM1 (if available)
    TreeFam Gene Tree for FREM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FREM1 gene
    FREM22  CSPG42  FREM32  FRAS12  
    1 SIMAP similar gene for FREM1 using alignment to 3 protein entries:     FREM1_HUMAN (see all proteins):
    FREM3

    Find genes that share paralogs with FREM1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for FREM1
    PGOHUM00000244050


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FREM1 (see all 4988)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219126101,2,,4
    CBifid nose, with or without anorectal and renal anomalies (BNAR)4 pathogenic114778707(-) GATATA/GGCCAG 2 S G mis10--------
    rs1219126091,2,,4
    CBifid nose, with or without anorectal and renal anomalies (BNAR)4 pathogenic114819143(-) TTTCTC/TGGCAT 2 R W mis10--------
    rs1843944241,2,,4
    CTrigonocephaly 2 (TRIGNO2)4 pathogenic114836775(+) ATATCC/TGGAAG 2 Q R mis10--------
    rs1886609521,2
    --14728290(+) GAGACA/GGCTGC 2 -- ds50010--------
    rs1407009521,2
    --14728375(+) AAATTC/TAGCCT 2 -- ds50010--------
    rs791907311,2
    C--14728471(+) AAAAGA/CTTGAG 2 -- ds50010--------
    rs1451530611,2
    --14728488(+) AAAGCG/TATTAT 2 -- ds50010--------
    rs1810947571,2
    --14728529(+) CTTCTA/GTTTTT 2 -- ds50010--------
    rs1157351121,2
    C,F--14728592(+) TGGCAT/CGCCAT 2 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1134659221,2
    F--14728632(+) GGATGC/TATGGA 2 -- ds50011Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for FREM1 (14734664 - 14910993 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FREM1 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2505227CNV Deletion19546169
    esv2144591CNV Deletion18987734
    nsv6484CNV Insertion18451855
    esv272085CNV Insertion20981092
    esv274583CNV Insertion20981092
    esv273155CNV Insertion20981092
    nsv892618CNV Loss21882294
    nsv831518CNV Loss17160897
    nsv831517CNV Loss17160897
    nsv416930CNV Loss16902084

    Human Gene Mutation Database (HGMD): FREM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FREM1
    DNA2.0 Custom Variant and Variant Library Synthesis for FREM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 608944   
    OMIM disorders: 608980  248450  614485  
    UniProtKB/Swiss-Prot: FREM1_HUMAN, Q5H8C1
  • Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980]: A disease characterized by
    the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is
    a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during
    early gestation. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]: A rare condition defined by eyelid colobomas,
    cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and
    gastrointestinal anomalies such as omphalocele and anal stenosis. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Trigonocephaly 2 (TRIGNO2) [MIM:614485]: A keel-shaped deformation of the forehead, caused by premature
    fusion of the metopic sutures. It results in a triangular shape of the head. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 9 diseases for FREM1:    
    About MalaCards
    bifid nose with or without anorectal and renal anomalies    trigonocephaly 2    bifid nose    manitoba oculotrichoanal syndrome
    trigonocephaly 1    diaphragmatic hernia 3    rectal prolapse    fraser syndrome
    unilateral renal agenesis

    3 diseases from the University of Copenhagen DISEASES database for FREM1:
    Renal agenesis     Syndactyly     Rectal prolapse

    Find genes that share disorders with FREM1           About GenesLikeMe

    Genetic Association Database (GAD): FREM1
    Human Genome Epidemiology (HuGE) Navigator: FREM1 (2 documents)

    Export disorders for FREM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FREM1 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with FREM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. (PubMed id 21507892)1, 2 Slavotinek A.M....Zenker M. (J. Med. Genet. 2011)
    2. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. (PubMed id 21931569)1, 2 Vissers L.E.L.M.... Roscioli T. (PLoS Genet. 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Identification of 15 loci influencing height in a Korean population. (PubMed id 19893584)1, 4 Kim J.J....Lee J.K. (J. Hum. Genet. 2010)
    5. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. (PubMed id 19732862)1, 2 Alazami A.M.... Alkuraya F.S. (Am. J. Hum. Genet. 2009)
    6. Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle. (PubMed id 15878328)1, 2 Kiyozumi D.... Sekiguchi K. (Exp. Cell Res. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    9. The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. (PubMed id 15345741)1, 3 Smyth I.... Jackson I.J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 158326 HGNC: 23399 AceView: C9orf154 Ensembl:ENSG00000164946 euGenes: HUgn158326
    ECgene: FREM1 H-InvDB: FREM1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for FREM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for FREM1 gene:
    Search GeneIP for patents involving FREM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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