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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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 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)
About This Section

Aliases
FRAS1 Related Extracellular Matrix 11 2     MOTA2
C9orf1541 2 3 5     TILRR2
C9orf1432 3     TRIGNO22
C9orf1452 3     Extracellular Matrix Protein QBRICK2
BNAR2 5     FRAS1-Related Extracellular Matrix Protein 12
Chromosome 9 Open Reading Frame 1541     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and manitoba oculotrichoanal syndrome. GO annotations related to this gene include carbohydrate binding and metal ion 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FREM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FREM1_HUMAN, Q5H8C1 (See protein sequence)
Recommended Name: FRAS1-related extracellular matrix protein 1 precursor  
Size: 2179 amino acids; 244154 Da
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity).
Note=Localizes at the basement membrane zone of embryonic epidermis and hair follicles (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5H8C1

  • FREM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FREM1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001171175.1  NP_659403.4  

    ENSEMBL proteins: 
     ENSP00000370278   ENSP00000370257   ENSP00000412597   ENSP00000370262   ENSP00000370263  
     ENSP00000412940  

    Human Recombinant Protein Products for FREM1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FREM1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    FREM1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    FREM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ----
    GO:0030246carbohydrate binding IEA--
    GO:0046872metal ion binding IEA--
         
    FREM1 for ontologies           About GeneDecksing


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

         15/16 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Frem1) (see all 16):
     craniofacial  digestive/alimentary  endocrine/exocrine gland  growth/size  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 
     normal  renal/urinary system  reproductive system  respiratory system  skeleton 

    FREM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Frem1tm1Ksek for FREM1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FREM1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FREM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FREM1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FREM1 

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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FREM1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    About this table

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

    FREM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FREM1

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

    Search CenterWatch for drugs/clinical trials and news about FREM1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

    miRNA
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    8/24 QIAGEN miScript miRNA 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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      QIAGEN 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 

    24/63 AceView cDNA sequences (see all 63):

    AL599598 AA495874 BX112086 BM682054 AA706038 AI284180 AK058190 AA977105 
    BF589960 BI461171 AI263501 AI453580 AW237665 AI802401 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FREM1 expression in normal human tissues (normalized intensities)      FREM1 embryonic expression: see
    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 
     5/13 selected tissues (see all 13) fully expand
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 2 entries
             Mesendoderm-like cells ( Generation of mesendoderm and definitive endoderm cells...
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             hIPS1
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiomyocyte-like progenitor cells ( Derivation of cardiomyocytes from pluripotent...
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See FREM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FREM1

    SOURCE GeneReport for Unigene cluster: Hs.50850
        SABiosciences Custom PCR Arrays for FREM1
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FREM1 gene from 6/13 species (see all 13)    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 81.86(n)1
    78.74(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 70.08(n)
    67.56(a)
      427355  XM_424932.3  XP_424932.2 
    lizard
    (Anolis carolinensis)
    Reptilia FREM16
    --
    --
    63(a)
    46(a)
    1 ↔ 1
    possible ortholog
    2(34582468-34675284)
    4(101143619-101300573)
    zebrafish
    (Danio rerio)
    Actinopterygii frem1a1 Fras1 related extracellular matrix 1a 59.98(n)
    53.92(a)
      100216326  NM_001190308.1  NP_001177237.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta kon6
    kon-tiki
    12(a)
    1 → many
    2L(18487747-18503978)
    worm
    (Caenorhabditis elegans)
    Secernentea C48E7.66
    Protein C48E7.6
    11(a)
    1 → many
    I(6236212-6249762)


    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)
    About This Section
    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

    FREM1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4988 SNPs in FREM1 are shown (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) 10/17 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608944   
    OMIM disorders: 608980  
    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

  • 14 diseases for FREM1:    About MalaCards
    bifid nose    manitoba oculotrichoanal syndrome    bifid nose with or without anorectal and renal anomalies    cryptophthalmos
    epidermolysis bullosa dystrophica    anophthalmia/microphthalmia    omphalocele    renal agenesis
    fraser syndrome    syndactyly    microphthalmia    craniosynostosis
    epidermolysis bullosa    coloboma

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

    FREM1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for FREM1 gene, integrated from 9 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. (2011)
    2. Heterozygous mutations of FREM1 are associated with a n increased risk of isolated metopic craniosynostosis in humans and mice. (PubMed id 21931569)1, 2 Vissers L.E....Roscioli T. (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. (2010)
    4. Identification of 15 loci influencing height in a Kor ean population. (PubMed id 19893584)1, 4 Kim J.J....Lee J.K. (2010)
    5. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. (PubMed id 19732862)1, 2 Alazami A.M....Alkuraya F.S. (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. (2005)
    7. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    8. 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. (2004)
    9. 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. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 158326 HGNC: 23399 AceView: C9orf154 Ensembl:ENSG00000164946 euGenes: HUgn158326
    ECgene: FREM1 H-InvDB: FREM1

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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