Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



FRMD7 Gene

protein-coding   GIFtS: 50
GCID: GC0XM131211

FERM Domain Containing 7

(Previous names: nystagmus 1, congenital)
(Previous symbols: NYS, NYS1)
  See FRMD7-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

TryGeneCards Plus

Aliases
FERM Domain Containing 71 2
NYS11 2 5
NYS1 2
XIPAN2 5
Nystagmus 1, Congenital1
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 nystagmus, infantile periodic alternating, x-linked, and x-linked infantile nystagmus. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011786.17  NC_018934.2  
Regulatory elements:
   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 Chromatin IP Primers for FRMD7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3 (See protein sequence)
Recommended Name: FERM domain-containing protein 7  
Size: 714 amino acids; 81614 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FRMD7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_919253.1  
    ENSEMBL proteins: 
     ENSP00000359916   ENSP00000298542   ENSP00000417996  

    FRMD7 Human Recombinant Protein Products:

    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.

     
    Search eBioscience for Proteins for FRMD7 

    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
    Novus Biologicals FRMD7 Antibody
    Abcam antibodies for FRMD7
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for FRMD7
    LSBio Antibodies in human, mouse, rat for FRMD7

    FRMD7 Assay Products:

    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.
    Search eBioscience for ELISAs for FRMD7 


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

    TryGeneCards Plus
    Selected 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


    Find genes that share domains with FRMD7           About GenesLikeMe


    (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,
    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.)
    About This Section

    TryGeneCards Plus

    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with FRMD7           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FRMD7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target FRMD7:
    hsa-mir-1 (MIRT024029)

    Block miRNA regulation of human, mouse, rat FRMD7 using miScript Target Protectors
    3 qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for FRMD7
    Predesigned siRNA for gene silencing in human, mouse, rat FRMD7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FRMD7

    Clone
    Products:
         
    OriGene clones in human, mouse for FRMD7 (see all 5)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FRMD7
    Browse ESI BIO Cell Lines and PureStem Progenitors for FRMD7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMD7


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    FRMD7_HUMAN, Q6ZUT3: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    cytoskeleton2
    nucleus2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005856cytoskeleton IEA--
    GO:0030426growth cone ISS--
    GO:0043005neuron projection ISS--
    GO:0043025neuronal cell body ISS--

    Find genes that share ontologies with FRMD7           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).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FRMD7
    Interactions:

        Search GeneGlobe Interaction Network for FRMD7

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for FRMD7 (ENSP000002985424) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    INSM1ENSP000003126314STRING: ENSP00000312631
    INSM2ENSP000003065234STRING: ENSP00000306523
    PIK3AP1ENSP000003398264STRING: ENSP00000339826
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

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

    Find genes that share ontologies with FRMD7           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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    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 )
    About This Section

    TryGeneCards Plus

    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:
         
    Block miRNA regulation of human, mouse, rat FRMD7 using miScript Target Protectors
    3 qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for FRMD7
    Predesigned siRNA for gene silencing in human, mouse, rat FRMD7
    Clone
    Products:
         
    OriGene clones in human, mouse for FRMD7 (see all 5)
    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for FRMD7
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat FRMD7
      QuantiTect SYBR Green Assays in human, mouse, rat FRMD7
      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 AI478353 AI492387 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™, 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)
    About This Section

    TryGeneCards Plus

    FRMD7 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Neurons
             Cholinergic Amacrine Cells Inner Nuclear Layer
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    FRMD7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FRMD7 Protein Expression

    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

        Custom PCR Arrays for FRMD7
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FRMD7
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat FRMD7
    QuantiTect SYBR Green Assays in human, mouse, rat FRMD7
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for FRMD7 gene from Selected species (see all 12)    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 66.32(n)
    68.37(a)
      428710  XM_426268.3  XP_426268.3 
    lizard
    (Anolis carolinensis)
    Reptilia FRMD76
    FERM domain containing 7
    66(a)
    1 ↔ 1
    GL343780.1(60812-83538)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia frmd71 FERM domain containing 7 72.65(n)
    78.74(a)
      779686  NM_001078770.1  NP_001072238.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.194902 Transcribed sequence with weak similarity to protein more 73.37(n)    AL910586.1 
    worm
    (Caenorhabditis elegans)
    Secernentea frm-36
    Protein FRM-3 (frm-3) mRNA, complete cds
    18(a)
    1 ↔ 1
    X(11576247-11581727) WBGene00001490


    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

    TryGeneCards Plus
    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

    Find genes that share paralogs with FRMD7           About GenesLikeMe


    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), 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for FRMD7 (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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    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

  • 7 diseases for FRMD7:    
    About MalaCards
    nystagmus, infantile periodic alternating, x-linked    x-linked infantile nystagmus    nystagmus 1, congenital, x- linked    frmd7-related infantile nystagmus
    dissociated nystagmus    spontaneous ocular nystagmus    congenital nystagmus

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

    Find genes that share disorders with FRMD7           About GenesLikeMe

    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

    TryGeneCards Plus

    PubMed articles for FRMD7 gene, integrated from 10 sources (see all 36):
    (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. (Nat. Genet. 2006)
    2. The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development. (PubMed id 19892780)1, 2 Betts-Henderson J.... Nicotera P. (Hum. Mol. Genet. 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. (Mol. Vis. 2008)
    4. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. (PubMed id 18372314)1, 4 Thomas S....Gottlob I. (Brain 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. (Br. J. Ophthalmol. 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. (Mol. Vis. 2008)
    7. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. (PubMed id 17893669)1, 2 Zhang B.... Xia J. (Mol. Vis. 2007)
    8. Novel mutations in FRMD7 in X-linked congenital nystagmus. (PubMed id 17397053)1, 2 Schorderet D.F.... Munier F.L. (Hum. Mutat. 2007)
    9. FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. (PubMed id 17768376)1, 2 Zhang Q.... Guo X. (Mol. Vis. 2007)
    10. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 90167 HGNC: 8079 AceView: LOC90167 Ensembl:ENSG00000165694 euGenes: HUgn90167
    ECgene: FRMD7 H-InvDB: FRMD7

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot 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 Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     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  

     
     
     Block miRNA regulation of human, mouse, rat FRMD7 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing FRMD7
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FRMD7 Predesigned siRNA for gene silencing in human, mouse, rat FRMD7
     QuantiFast Probe-based Assays in human, mouse, rat FRMD7 QuantiTect SYBR Green Assays in human, mouse, rat FRMD7
     Custom PCR Arrays for FRMD7 Search Chromatin IP Primers for FRMD7
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat FRMD7  Search GeneGlobe Interaction Network for FRMD7
     Regulatory tfbs in FRMD7 promoter
     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 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

     Search Tocris compounds for FRMD7
     Browse Sino Biological Proteins
     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
     Antibodies for FRMD7
     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.



     Browse ESI BIO Cell Lines and PureStem Progenitors 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: Let us create your new Knockout/Knockin mouse model for FRMD7
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for 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
     Browse compounds at ApexBio
     Search Addgene for plasmids for FRMD7
      Search eBioscience for proteins for FRMD7
      Search eBioscience for elisas for FRMD7
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4