Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

FRMD7 Gene

protein-coding   GIFtS: 48
GCID: GC0XM131211

FERM Domain Containing 7

(Previous names: nystagmus 1, congenital)
(Previous symbols: NYS, NYS1)
  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
FERM Domain Containing 71 2
NYS1 2
NYS11 2
Nystagmus 1, Congenital1
XIPAN2
FERM Domain-Containing Protein 72

External Ids:    HGNC: 80791   Entrez Gene: 901672   Ensembl: ENSG000001656947   OMIM: 3006285   UniProtKB: Q6ZUT33   

Export aliases for FRMD7 gene to outside databases

Previous GC identifers: GC0XM131038 GC0XM120615


(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 FRMD7 Gene:
Mutations in this gene are associated with X-linked congenital nystagmus. (provided by RefSeq, Dec 2008)

GeneCards Summary for FRMD7 Gene: 
FRMD7 (FERM domain containing 7) is a protein-coding gene. Diseases associated with FRMD7 include congenital nystagmus, and x-linked infantile nystagmus. GO annotations related to this gene include molecular_function. An important paralog of this gene is EPB41L5.

UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3
Function: Plays a role in neurite development (By similarity). May play a specific role in the control of eye
movement and gaze stability

Gene Wiki entry for FRMD7 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_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FRMD7 gene promoter:
         ER-alpha   Sox5   C/EBPbeta   Nkx2-2   FOXD3   E47   FOXI1   PPAR-alpha   Hand1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFRMD7 promoter sequence
   Search SABiosciences Chromatin IP Primers for FRMD7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRMD7


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

Entrez Gene cytogenetic band: Xq26.2   Ensembl cytogenetic band:  Xq26.2   HGNC cytogenetic band: Xq26.2

FRMD7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRMD7 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM131211:  view genomic region     (about GC identifiers)

Start:
131,211,021 bp from pter      End:
131,262,050 bp from pter
Size:
51,030 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: FRMD7_HUMAN, Q6ZUT3 (See protein sequence)
Recommended Name: FERM domain-containing protein 7  
Size: 714 amino acids; 81614 Da
Subcellular location: Cell projection (By similarity). Cell projection, growth cone (By similarity). Note=In
undifferentiated neurons, located in the actin-rich regions of the cell body. In differentiated neurons, located
in the actin-rich regions of the cell body and primary neurite processes but is almost absent from secondary
extensions arising from the primary neurite. Also found at the actin-rich distal end of growth cones (By
similarity)
Developmental stage: In 37 day post-ovulation (dpo) embryos, expression is found in the mid- and hindbrain,
regions known to be involved in motor control of eye movement, and in the ventricular zone of the forebrain. In
56 dpo embryos, expressed in the ventricular layer of the forebrain, midbrain, cerebellar primordium, spinal cord
and the developing neural retina. In later development, highly expressed in postmitotic cells within the
developing subplate and cortical plate
Secondary accessions: C0LLJ3 Q5JX99
Alternative splicing: 2 isoforms:  Q6ZUT3-1   Q6ZUT3-2   

Explore the universe of human proteins at neXtProt for FRMD7: NX_Q6ZUT3

Explore proteomics data for FRMD7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6ZUT3

  • FRMD7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FRMD7 Protein Expression
    REFSEQ proteins: NP_919253.1  
    ENSEMBL proteins: 
     ENSP00000359916   ENSP00000298542   ENSP00000417996  

    Human Recombinant Protein Products for FRMD7: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for FRMD7
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for FRMD7
    GenScript Custom Purified and Recombinant Proteins Services for FRMD7
    Novus Biologicals FRMD7 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton IEA--
    GO:0030426growth cone ISS--
    GO:0043005neuron projection ISS--
    GO:0043025neuronal cell body ISS--

    FRMD7 for ontologies           About GeneDecksing



    FRMD7 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for FRMD7
    GenScript Custom Superior Antibodies Services for FRMD7
    Novus Biologicals FRMD7 Antibody
    Search for Antibodies for FRMD7 at Abcam
    Browse Antibodies at Cloud-Clone Corp. 
    Search ThermoFisher Antibodies for FRMD7
    LSBio Antibodies in human, mouse, rat for FRMD7 

    Assay Products for FRMD7: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for FRMD7
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FRMD7
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/10 InterPro protein domains (see all 10):
     IPR019748 FERM_central
     IPR019750 Band_41_fam
     IPR019747 FERM_CS
     IPR011993 PH_like_dom
     IPR014847 FERM-adjacent

    Graphical View of Domain Structure for InterPro Entry Q6ZUT3

    ProtoNet protein and cluster: Q6ZUT3

    1 Blocks protein domain: IPB000299 Band 4.1 domain

    UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3
    Similarity: Contains 1 FERM domain


    FRMD7 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: FRMD7_HUMAN, Q6ZUT3
    Function: Plays a role in neurite development (By similarity). May play a specific role in the control of eye
    movement and gaze stability

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    FRMD7 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FRMD7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FRMD7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FRMD7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FRMD7 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FRMD7
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate FRMD7:
    hsa-miR-1290 hsa-miR-3150b-3p hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidFRMD7 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FRMD7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FRMD7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FRMD7
    Sirion Biotech Customized adenovirus for overexpression of FRMD7

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for FRMD7 (see all 6)
    OriGene ORF clones in mouse, rat for FRMD7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FRMD7 (NM_194277)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FRMD7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FRMD7
    Sirion Biotech Customized lentivirus for stable overexpression of FRMD7 
                         Customized lentivirus expression plasmids for stable overexpression of FRMD7 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FRMD7
    Search LifeMap BioReagents cell lines for FRMD7
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMD7


    (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 FRMD7

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010975regulation of neuron projection development ISS--

    FRMD7 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 FRMD7

    Search CenterWatch for drugs/clinical trials and news about FRMD7

    (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 FRMD7 gene: 
    NM_194277.2  

    Unigene Cluster for FRMD7:

    FERM domain containing 7
    Hs.170776  [show with all ESTs]
    Unigene Representative Sequence: NM_194277
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370879(uc022cdy.1) ENST00000298542(uc004ewn.3 uc011muy.2)
    ENST00000464296
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FRMD7
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate FRMD7:
    hsa-miR-1290 hsa-miR-3150b-3p hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidFRMD7 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FRMD7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FRMD7
    Clone
    Products:
         
    OriGene clones in human, mouse for FRMD7 (see all 6)
    OriGene ORF clones in mouse, rat for FRMD7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FRMD7 (NM_194277)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FRMD7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FRMD7
    Sirion Biotech Customized lentivirus for stable overexpression of FRMD7 
                         Customized lentivirus expression plasmids for stable overexpression of FRMD7 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for FRMD7
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat FRMD7
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FRMD7
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FRMD7

    Additional mRNA sequence: 

    AK125336.1 AL161984.1 BC114371.1 FJ717411.1 

    2 DOTS entries:

    DT.70103470  DT.121295811 

    7 AceView cDNA sequences:

    NM_194277 AL161984 AK125336 AI492387 AI478353 BG428306 AI767020 

    GeneLoc Exon Structure


    (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

    FRMD7 expression in normal human tissues (normalized intensities)      FRMD7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGCAGGCC
    FRMD7 Expression
    About this image


    FRMD7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Cholinergic Amacrine Cells Inner Nuclear Layer
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod

    See FRMD7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FRMD7

    SOURCE GeneReport for Unigene cluster: Hs.170776

    UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3
    Tissue specificity: Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in
    embryonic brain and developing neural retina

        SABiosciences Custom PCR Arrays for FRMD7
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FRMD7
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat FRMD7
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FRMD7
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FRMD7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMD7

    (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 FRMD7 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Frmd71 , 5 FERM domain containing 71, 5 87.15(n)1
    86.49(a)1
      X (27.82 cM)5
    3853541  NM_001190332.11  NP_001177261.11 
     508951805 
    chicken
    (Gallus gallus)
    Aves FRMD71 FERM domain containing 7 66.23(n)
    68.41(a)
      428710  XM_426268.2  XP_426268.2 
    lizard
    (Anolis carolinensis)
    Reptilia FRMD76
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343780.1(60812-83538)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.194902 Transcribed sequence with weak similarity to protein more 73.37(n)    AL910586.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ZC247.16
    frm-36
    (see all 3)
    Protein FRM-3
    (see all 3)
    3(a)
    18(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    I(10264310-10279234)
    X(11576247-11580940)


    ENSEMBL Gene Tree for FRMD7 (if available)
    TreeFam Gene Tree for FRMD7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FRMD7 gene
    EPB41L52  EPB412  FRMD32  EPB41L12  PTPN32  EPB41L4B2  FARP12  PTPN42  
    FRMD52  EPB41L32  EPB41L4A2  FARP22  EPB41L22  
    4 SIMAP similar genes for FRMD7 using alignment to 1 protein entry:     FRMD7_HUMAN:
    FARP2    FARP1    EPB41L4A    EPB41L4B

    FRMD7 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FRMD7
    PGOHUM00000235164


    (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

    10/735 SNPs in FRMD7 are shown (see all 735)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0626574
    Nystagmus congenital X-linked 1 (NYS1)4--see VAR_0626572 R Q mis40--------
    VAR_0289574
    Nystagmus congenital X-linked 1 (NYS1)4--see VAR_0289572 A P mis40--------
    VAR_0626524
    Nystagmus congenital X-linked 1 (NYS1)4--see VAR_0626522 R W mis40--------
    VAR_0289584
    Nystagmus congenital X-linked 1 (NYS1)4--see VAR_0289582 C Y mis40--------
    VAR_0289534
    Nystagmus congenital X-linked 1 (NYS1)4--see VAR_0289532 L R mis40--------
    VAR_0626604
    Nystagmus congenital X-linked 1 (NYS1)4--see VAR_0626602 G R mis40--------
    VAR_0626514
    Nystagmus congenital X-linked 1 (NYS1)4--see VAR_0626512 G W mis40--------
    VAR_0289604
    Nystagmus congenital X-linked 1 (NYS1)4--see VAR_0289602 Y C mis40--------
    VAR_0626594
    Nystagmus congenital X-linked 1 (NYS1)4--see VAR_0626592 H P mis40--------
    VAR_0289554
    Nystagmus congenital X-linked 1 (NYS1)4--see VAR_0289552 A T mis40--------

    HapMap Linkage Disequilibrium report for FRMD7 (131211021 - 131262050 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FRMD7: --

    Human Gene Mutation Database (HGMD): FRMD7

    Locus Specific Mutation Databases (LSDB): FRMD7
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FRMD7
    DNA2.0 Custom Variant and Variant Library Synthesis for FRMD7

    (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: 300628   
    OMIM disorders: 310700  
    UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3
  • Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]: A condition defined as conjugated, spontaneous and
    involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated
    features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for FRMD7:    About MalaCards
    congenital nystagmus    x-linked infantile nystagmus    nystagmus 1, congenital, x- linked    spontaneous ocular nystagmus
    frmd7-related infantile nystagmus    dissociated nystagmus    astigmatism    strabismus
    hyperopia    ocular albinism    acne    albinism
    neuronitis

    5 diseases from the University of Copenhagen DISEASES database for FRMD7:
    Congenital nystagmus     Dissociated nystagmus     Spontaneous ocular nystagmus     Ocular albinism
    Hyperopia

    FRMD7 for disorders           About GeneDecksing

    GeneTests: FRMD7
    GeneReviews: FRMD7
    Genetic Association Database (GAD): FRMD7
    Human Genome Epidemiology (HuGE) Navigator: FRMD7 (1 document)

    Export disorders for FRMD7 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 FRMD7 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with FRMD7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. (PubMed id 17013395)1, 2, 3 Tarpey P....Gottlob I. (2006)
    2. The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development. (PubMed id 19892780)1, 2 Betts-Henderson J.... Nicotera P. (2010)
    3. Five novel mutations of the FRMD7 gene in Chinese families with X- linked infantile nystagmus. (PubMed id 18431453)1, 2 Li N.... Zhao K. (2008)
    4. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. (PubMed id 18372314)1, 4 Thomas S....Gottlob I. (2008)
    5. Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. (PubMed id 17962394)1, 2 Kaplan Y.... Akarsu N.A. (2008)
    6. A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. (PubMed id 18246032)1, 2 He X.... Ma X. (2008)
    7. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. (PubMed id 17893669)1, 2 Zhang B.... Xia J. (2007)
    8. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. (PubMed id 17397053)1, 2 Schorderet D.F....Munier F.L. (2007)
    9. FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. (PubMed id 17768376)1, 2 Zhang Q.... Guo X. (2007)
    10. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 90167 HGNC: 8079 AceView: LOC90167 Ensembl:ENSG00000165694 euGenes: HUgn90167
    ECgene: FRMD7 H-InvDB: FRMD7

    (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 FRMD7 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 FRMD7 gene:
    Search GeneIP for patents involving FRMD7

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for FRMD7  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for FRMD7  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for FRMD7  
     OriGene qSTAR qPCR primer pairs in human, mouse for FRMD7   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for FRMD7   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FRMD7   OriGene Custom Protein Services for FRMD7  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FRMD7
     QIAGEN SeqTarget long-range PCR primers for resequencing FRMD7
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRMD7
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FRMD7
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FRMD7
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FRMD7
     GenScript Custom Purified and Recombinant Proteins Services for FRMD7 GenScript cDNA clones with any tag delivered in your preferred vector for FRMD7
     GenScript Custom Assay Services for FRMD7 GenScript Custom Superior Antibodies Services for FRMD7
     GenScript Custom overexpressing Cell Line Services for FRMD7 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in FRMD7 promoter
     Search Chromatin IP Primers for FRMD7
     RT2 qPCR Primer Assay in human, mouse / rat FRMD7
     Search GNC Networks for FRMD7
     SABiosciences Custom PCR Arrays for FRMD7
     Search Tocris compounds for FRMD7
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     FRMD7 antibodies
     FRMD7 lysates
     Search for Antibodies for FRMD7 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for FRMD7
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for FRMD7
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMD7
     SwitchGear 3'UTR luciferase reporter plasmids for FRMD7
     SwitchGear Promoter luciferase reporter plasmids for FRMD7
     Search ThermoFisher Antibodies for FRMD7
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FRMD7
     inGenious Targeting Laboratory - Custom generated mouse model solutions for FRMD7
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FRMD7
    Customized:
     lentivirus for stable overexpression of FRMD7
     lentivirus expression plasmids for stable overexpression of FRMD7
     adenovirus for overexpression of FRMD7
     LSBio Antibodies in human, mouse, rat for FRMD7
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      FRMD7 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4