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Aliases for FRMD7 Gene

Aliases for FRMD7 Gene

  • FERM Domain Containing 7 2 3
  • XIPAN 3 6
  • NYS1 3 6
  • FERM Domain-Containing Protein 7 3
  • Nystagmus 1, Congenital 2
  • NYS 3

External Ids for FRMD7 Gene

Previous HGNC Symbols for FRMD7 Gene

  • NYS
  • NYS1

Previous GeneCards Identifiers for FRMD7 Gene

  • GC0XM131038
  • GC0XM131211
  • GC0XM120615

Summaries for FRMD7 Gene

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 1, congenital, x-linked and frmd7-related infantile nystagmus. An important paralog of this gene is FRMD3.

UniProtKB/Swiss-Prot for FRMD7 Gene

  • Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.

Gene Wiki entry for FRMD7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRMD7 Gene

Genomics for FRMD7 Gene

Regulatory Elements for FRMD7 Gene

Genomic Location for FRMD7 Gene

132,076,993 bp from pter
132,128,022 bp from pter
51,030 bases
Minus strand

Genomic View for FRMD7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FRMD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMD7 Gene

Proteins for FRMD7 Gene

  • Protein details for FRMD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    FERM domain-containing protein 7
    Protein Accession:
    Secondary Accessions:
    • C0LLJ3
    • Q5JX99

    Protein attributes for FRMD7 Gene

    714 amino acids
    Molecular mass:
    81614 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FRMD7 Gene


neXtProt entry for FRMD7 Gene

Proteomics data for FRMD7 Gene at MOPED

Post-translational modifications for FRMD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FRMD7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FRMD7 Gene

Domains for FRMD7 Gene

Suggested Antigen Peptide Sequences for FRMD7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q6ZUT3
  • Contains 1 FERM domain.
genes like me logo Genes that share domains with FRMD7: view

No data available for Gene Families for FRMD7 Gene

Function for FRMD7 Gene

Molecular function for FRMD7 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.

Gene Ontology (GO) - Molecular Function for FRMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with FRMD7: view

Animal Model Products

miRNA for FRMD7 Gene

miRTarBase miRNAs that target FRMD7

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FRMD7

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for FRMD7 Gene

Localization for FRMD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMD7 Gene

Cell projection. Cell projection, growth cone. 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). {ECO:0000250 UniProtKB:A2AD83}.

Subcellular locations from

Jensen Localization Image for FRMD7 Gene COMPARTMENTS Subcellular localization image for FRMD7 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for FRMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005856 cytoskeleton IEA --
GO:0030426 growth cone ISS --
GO:0043005 neuron projection ISS --
GO:0043025 neuronal cell body ISS --
genes like me logo Genes that share ontologies with FRMD7: view

Pathways for FRMD7 Gene

SuperPathways for FRMD7 Gene

No Data Available

Interacting Proteins for FRMD7 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000298542 for FRMD7 Gene via STRING

Gene Ontology (GO) - Biological Process for FRMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010975 regulation of neuron projection development ISS --
genes like me logo Genes that share ontologies with FRMD7: view

No data available for Pathways by source for FRMD7 Gene

Transcripts for FRMD7 Gene

mRNA/cDNA for FRMD7 Gene

(7) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FRMD7 Gene

FERM domain containing 7:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FRMD7

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRMD7 Gene

No ASD Table

Relevant External Links for FRMD7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FRMD7 Gene

mRNA expression in normal human tissues for FRMD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FRMD7 Gene

This gene is overexpressed in Uterus (16.5), Fallopian Tube (6.3), Kidney - Cortex (5.5), and Artery - Aorta (4.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for FRMD7 Gene

SOURCE GeneReport for Unigene cluster for FRMD7 Gene Hs.170776

mRNA Expression by UniProt/SwissProt for FRMD7 Gene

Tissue specificity: Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina.
genes like me logo Genes that share expressions with FRMD7: view

Expression partners for FRMD7 Gene

In Situ Assay Products

No data available for Protein differential expression in normal tissues for FRMD7 Gene

Orthologs for FRMD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMD7 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia FRMD7 35
  • 90.42 (n)
  • 88.94 (a)
FRMD7 36
  • 84 (a)
(Canis familiaris)
Mammalia FRMD7 35
  • 88.34 (n)
  • 87.28 (a)
FRMD7 36
  • 87 (a)
(Mus musculus)
Mammalia Frmd7 35
  • 87.15 (n)
  • 86.49 (a)
Frmd7 16
Frmd7 36
  • 86 (a)
(Pan troglodytes)
Mammalia FRMD7 35
  • 99.3 (n)
  • 99.02 (a)
FRMD7 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Frmd7 35
  • 87.72 (n)
  • 86.77 (a)
(Monodelphis domestica)
Mammalia FRMD7 36
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia FRMD7 36
  • 71 (a)
(Gallus gallus)
Aves FRMD7 35
  • 66.32 (n)
  • 68.37 (a)
FRMD7 36
  • 66 (a)
(Anolis carolinensis)
Reptilia FRMD7 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd7 35
  • 72.65 (n)
  • 78.74 (a)
(Danio rerio)
Actinopterygii Dr.19490 35
LOC557811 35
  • 58.82 (n)
  • 57.2 (a)
frmd7 36
  • 46 (a)
FRMD7 (2 of 2) 36
  • 44 (a)
(Caenorhabditis elegans)
Secernentea frm-3 36
  • 18 (a)
Species with no ortholog for FRMD7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FRMD7 Gene

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

Paralogs for FRMD7 Gene

Selected SIMAP similar genes for FRMD7 Gene using alignment to 1 proteins: Pseudogenes for FRMD7 Gene

genes like me logo Genes that share paralogs with FRMD7: view

Variants for FRMD7 Gene

Sequence variations from dbSNP and Humsavar for FRMD7 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1406867 -- 132,086,166(+) CCCCA(C/T)GCTTT intron-variant
rs1884017 -- 132,120,786(+) CAGAG(A/G)AAGCA intron-variant
rs2064470 -- 132,107,126(+) AGATA(G/T)ATTGG intron-variant
rs2064650 -- 132,097,229(+) CTTAA(A/G)TAACA intron-variant
rs2207844 -- 132,096,523(+) ccagt(C/T)tgggc intron-variant

Relevant External Links for FRMD7 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FRMD7 Gene

Disorders for FRMD7 Gene

(1) OMIM Diseases for FRMD7 Gene (300628)


  • 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. {ECO:0000269 PubMed:17013395, ECO:0000269 PubMed:17397053, ECO:0000269 PubMed:17768376, ECO:0000269 PubMed:17893669, ECO:0000269 PubMed:17962394, ECO:0000269 PubMed:18087240, ECO:0000269 PubMed:18246032, ECO:0000269 PubMed:18431453, ECO:0000269 PubMed:21303855, ECO:0000269 PubMed:21365021, ECO:0000269 PubMed:22490987, ECO:0000269 PubMed:23946638}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FRMD7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with FRMD7: view

No data available for Novoseek inferred disease relationships and Genatlas for FRMD7 Gene

Publications for FRMD7 Gene

  1. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. (PMID: 17013395) Tarpey P. … Gottlob I. (Nat. Genet. 2006) 2 3 4
  2. Novel mutations in FRMD7 in X-linked congenital nystagmus. (PMID: 17397053) Schorderet D.F. … Munier F.L. (Hum. Mutat. 2007) 3 4
  3. FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. (PMID: 17768376) Zhang Q. … Guo X. (Mol. Vis. 2007) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for FRMD7 Gene

Sources for FRMD7 Gene

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