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Aliases for FRMD7 Gene

Aliases for FRMD7 Gene

  • FERM Domain Containing 7 2 3 5
  • Nystagmus 1, Congenital 2
  • XIPAN 3
  • NYS1 3
  • 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

Enhancers for FRMD7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FRMD7 on UCSC Golden Path with GeneCards custom track

Genomic Location for FRMD7 Gene

Chromosome:
X
Start:
132,076,993 bp from pter
End:
132,128,022 bp from pter
Size:
51,030 bases
Orientation:
Minus strand

Genomic View for FRMD7 Gene

Genes around FRMD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q6ZUT3-FRMD7_HUMAN
    Recommended name:
    FERM domain-containing protein 7
    Protein Accession:
    Q6ZUT3
    Secondary Accessions:
    • C0LLJ3
    • Q5JX99

    Protein attributes for FRMD7 Gene

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

    Alternative splice isoforms for FRMD7 Gene

    UniProtKB/Swiss-Prot:

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

No data available for DME Specific Peptides for FRMD7 Gene

Domains & Families for FRMD7 Gene

Suggested Antigen Peptide Sequences for FRMD7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZUT3

UniProtKB/Swiss-Prot:

FRMD7_HUMAN :
  • Contains 1 FERM domain.
Domain:
  • 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.

Phenotypes for FRMD7 Gene

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

Human Phenotype Ontology for FRMD7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FRMD7 Gene

MGI Knock Outs for FRMD7:

Animal Model Products

miRNA for FRMD7 Gene

miRTarBase miRNAs that target FRMD7

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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

COMPARTMENTS
Jensen Localization Image for FRMD7 Gene COMPARTMENTS Subcellular localization image for FRMD7 gene
Compartment Confidence
extracellular 5
cytoskeleton 3
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for FRMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
genes like me logo Genes that share ontologies with FRMD7: view

Pathways & Interactions 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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000298542%0d%0a9606.ENSP00000306523%0d%0a9606.ENSP00000312631%0d%0a
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:0010592 positive regulation of lamellipodium assembly IEA --
genes like me logo Genes that share ontologies with FRMD7: view

No data available for Pathways by source and SIGNOR curated interactions for FRMD7 Gene

Drugs & Compounds for FRMD7 Gene

No Compound Related Data Available

Transcripts for FRMD7 Gene

mRNA/cDNA for FRMD7 Gene

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

Unigene Clusters for FRMD7 Gene

FERM domain containing 7:
Representative Sequences:

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

No ASD Table

Relevant External Links for FRMD7 Gene

GeneLoc Exon Structure for
FRMD7
ECgene alternative splicing isoforms for
FRMD7

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 (x16.5), Fallopian Tube (x6.3), Kidney - Cortex (x5.5), and Artery - Aorta (x4.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q6ZUT3-FRMD7_HUMAN
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 expression patterns with FRMD7: view

Protein tissue co-expression partners for FRMD7 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia FRMD7 35
  • 90.42 (n)
  • 88.94 (a)
FRMD7 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FRMD7 35
  • 88.34 (n)
  • 87.28 (a)
FRMD7 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Frmd7 35
  • 87.15 (n)
  • 86.49 (a)
Frmd7 16
Frmd7 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FRMD7 35
  • 99.3 (n)
  • 99.02 (a)
FRMD7 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Frmd7 35
  • 87.72 (n)
  • 86.77 (a)
oppossum
(Monodelphis domestica)
Mammalia FRMD7 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRMD7 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRMD7 35
  • 66.32 (n)
  • 68.37 (a)
FRMD7 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FRMD7 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd7 35
  • 72.65 (n)
  • 78.74 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.19490 35
LOC557811 35
  • 58.82 (n)
  • 57.2 (a)
frmd7 36
  • 46 (a)
OneToMany
FRMD7 (2 of 2) 36
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-3 36
  • 18 (a)
OneToOne
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

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

Paralogs for FRMD7 Gene

(4) SIMAP similar genes for FRMD7 Gene using alignment to 1 proteins:

Pseudogenes.org 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
VAR_028951 Nystagmus congenital X-linked 1 (NYS1)
VAR_028952 Nystagmus congenital X-linked 1 (NYS1)
VAR_028953 Nystagmus congenital X-linked 1 (NYS1)
VAR_028954 Nystagmus congenital X-linked 1 (NYS1)
VAR_028955 Nystagmus congenital X-linked 1 (NYS1)

Variation tolerance for FRMD7 Gene

Residual Variation Intolerance Score: 76.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.54; 72.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FRMD7 Gene

HapMap Linkage Disequilibrium report
FRMD7
Human Gene Mutation Database (HGMD)
FRMD7

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

MalaCards: The human disease database

(13) MalaCards diseases for FRMD7 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nystagmus 1, congenital, x-linked
  • nystagmus, infantile periodic alternating, x-linked
frmd7-related infantile nystagmus
  • nys1
congenital nystagmus
  • nystagmus congenital
x-linked infantile nystagmus
  • frmd7-related infantile nystagmus
dissociated nystagmus
- elite association - COSMIC cancer census association via MalaCards
Search FRMD7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FRMD7_HUMAN
  • 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)
FRMD7
Human Genome Epidemiology (HuGE) Navigator
FRMD7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FRMD7
genes like me logo Genes that share disorders with FRMD7: view

No data available for 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 67
  2. Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus. (PMID: 2063919) Gutmann D.H. … Zackai E.H. (Am. J. Med. Genet. 1991) 2 3
  3. A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family. (PMID: 25916882) Gupta S. … Mutsuddi M. (Neurosci. Lett. 2015) 3
  4. Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. (PMID: 25678693) AlMoallem B. … De Baere E. (Invest. Ophthalmol. Vis. Sci. 2015) 3
  5. Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus. (PMID: 24434814) Zhang X. … Gu F. (Sci Rep 2014) 3

Products for FRMD7 Gene

Sources for FRMD7 Gene

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