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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 Symbols for FRMD7 Gene

  • NYS
  • NYS1

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 frmd7-related infantile nystagmus and x-linked 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

Genomic Location for FRMD7 Gene

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

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

Regulatory Elements 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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FRMD7 Gene

Domains for FRMD7 Gene

UniProtKB/Swiss-Prot:

FRMD7_HUMAN
Domain:
  • Contains 1 FERM domain.:
    • Q6ZUT3
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

miRNA for FRMD7 Gene

miRTarBase miRNAs that target FRMD7

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

COMPARTMENTS
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)
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: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

(2) 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 (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

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 expressions with FRMD7: view

Orthologs for FRMD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMD7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FRMD7 36
  • 99.3 (n)
  • 99.02 (a)
FRMD7 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FRMD7 36
  • 90.42 (n)
  • 88.94 (a)
FRMD7 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FRMD7 36
  • 88.34 (n)
  • 87.28 (a)
FRMD7 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Frmd7 36
  • 87.15 (n)
  • 86.49 (a)
Frmd7 16
Frmd7 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FRMD7 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRMD7 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Frmd7 36
  • 87.72 (n)
  • 86.77 (a)
chicken
(Gallus gallus)
Aves FRMD7 36
  • 66.32 (n)
  • 68.37 (a)
FRMD7 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FRMD7 37
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd7 36
  • 72.65 (n)
  • 78.74 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.19490 36
frmd7 37
  • 46 (a)
OneToMany
FRMD7 (2 of 2) 37
  • 44 (a)
OneToMany
LOC557811 36
  • 58.82 (n)
  • 57.2 (a)
worm
(Caenorhabditis elegans)
Secernentea frm-3 37
  • 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

Selected 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 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
FRMD7
Human Gene Mutation Database (HGMD)
FRMD7
Locus Specific Mutation Databases (LSDB)
FRMD7

No data available for Structural Variations from Database of Genomic Variants (DGV) for FRMD7 Gene

Disorders for FRMD7 Gene

(1) OMIM Diseases for FRMD7 Gene (300628)

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

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

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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