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

FRMD7 Gene

protein-coding   GIFtS: 49
GCID: GC0XM131211

FERM domain containing 7

(Previous names: nystagmus 1, congenital )
(Previous symbols: NYS, NYS1)
 Explore 12 diseases affiliated with
FRMD7 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FRMD7    

Aliases
for FRMD7 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
FERM Domain Containing 71 2     Nystagmus 1, Congenital1
NYS1 2     XIPAN2
NYS11 2     FERM Domain-Containing Protein 72
FLJ433461     

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


Summaries
for FRMD7 gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011786.16  
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 plasmid: FRMD7 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

Proteins
for FRMD7 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZUT3

    • FRMD7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn Proteins for FRMD7

    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



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    Protein Domains /
    Families
    for FRMD7 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FRMD7 for domains           About GeneDecksing

    5/10 InterPro domains/families (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 family: IPB000299 Band 4.1 domain

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


    Function
    for FRMD7 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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



    Pathways & Interactions
    for FRMD7 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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



    Drugs & Compounds
    for FRMD7 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for FRMD7 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
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    hsa-miR-1290 hsa-miR-3150b-3p hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmid: FRMD7 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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


    Expression
    for FRMD7 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATGCAGGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FRMD7 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerCholinergic Amacrine CellsAmacrine, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

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    In Situ
    Assay Products:     
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    Orthologs
    for FRMD7 gene

    (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 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 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 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Cdep6
    		 Cdep
    		 16(a)
    		 1 → many
    		 3R(736278-771298)
    worm
    (Caenorhabditis elegans)    		 Secernentea frm-36
    		 FERM domain (protein4.1-ezrin-radixin-moesin) fami...
    		 17(a)
    		 1 → many
    		 X(11576180-11580873)


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

    Paralogs
    for FRMD7 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FRMD7 gene
    EPB412  EPB41L52  FRMD32  EPB41L12  EPB41L4B2  FARP12  FRMD52  MYLIP2  
    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


    Genomic Variants
    for FRMD7 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/594 NCBI SNPs in FRMD7 are shown (see all 594)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs78923781,2
    		C,F,H,--131211020(+) ACATAG/TTTATA 1 -- spd16Minor allele frequency- T:0.01EA NS NA 806
    rs1840896241,2
    		--131211073(+) CAATAA/TCATTC 1 -- ut310--------
    rs413127551,2
    		C,--131211084(+) ATTTCT/CTGGCC 1 -- ut312Minor allele frequency- C:0.33NA WA 3
    rs413002931,2
    		C,--131211170(+) GTTTCC/TCTTTT 1 -- ut310--------
    rs1884311681,2
    		--131211215(+) AGTAAA/GACAAC 1 -- ut310--------
    rs37647711,2
    		C,F,A,H,--131211235(-) AAACCA/TGATGA 1 -- ut31 ese320--NS EA NA WA CSA 2272
    rs59753151,2
    		C,--131211466(+) AGACTA/GAAATA 1 -- ut310--------
    rs1509794351,2
    		--131211539(+) TGCCAC/TTAGAC 1 -- ut310--------
    rs1808704791,2
    		C,--131212043(+) TTCTTC/TGCCAT 2 K E mis10--------
    rs1857576261,2
    		C,--131212055(+) CAAAGC/GATAGT 2 P A mis10--------

    HapMap Linkage Disequilibrium report for FRMD7 (131211021 - 131262050 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FRMD7: --
    Human Gene Mutation Database (HGMD): FRMD7

    Locus Specific Mutation Databases (LSDB): FRMD7

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    Disorders / Diseases
    for FRMD7 gene

    (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
    FRMD7 for disorders           About GeneDecksing

    OMIM gene information: 300628   
    OMIM disorders: 310700  
    UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3
  • Defects in FRMD7 are the cause of nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]. NYS1 is 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

    12 diseases for FRMD7:    About MalaCards
    nystagmus    congenital nystagmus    nystagmus 1, congenital, x- linked    x-linked infantile nystagmus
    ocular albinism    x inactivation    albinism    hyperopia
    astigmatism    strabismus    acne    neuronitis

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

    Human Genome Epidemiology (HuGE) Navigator: FRMD7 (1 document)

    Export disorders for FRMD7 gene to outside databases

    Publications
    for FRMD7 gene

    (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 32):
    (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. 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)
    5. 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)
    6. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. (PubMed id 17893669)1, 2 Zhang B.... Xia J. (2007)
    7. FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. (PubMed id 17768376)1, 2 Zhang Q.... Guo X. (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. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for FRMD7 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing FRMD7 gene

    (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

    Other Databases showing FRMD7 gene

    (According to HUGE)
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    Specialized Databases showing FRMD7 gene

    (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

    Intellectual Property
    for FRMD7 gene

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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for FRMD7 gene:
    Search GeneIP for patents involving FRMD7

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