Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008] See more...

Aliases for FRMD7 Gene

Aliases for FRMD7 Gene

  • FERM Domain Containing 7 2 3 5
  • FERM Domain-Containing Protein 7 3 4
  • Nystagmus 1, Congenital 2
  • FLJ43346 2
  • XIPAN 3
  • FRMD7 5
  • 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 X-Linked Infantile Nystagmus. An important paralog of this gene is FARP1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FRMD7 Gene

Genomics for FRMD7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FRMD7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ132215 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.4 -89.2 -89211 5.7 CTCF PRDM10 ZNF629 REST LEF1 IKZF1 ZNF692 POLR2A ETV6 LARP7 RAP2C RAP2C-AS1 FRMD7 lnc-RAP2C-2 lnc-STK26-6
GH0XJ132485 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.9 -360.9 -360874 6.1 RNF2 HNRNPL GATAD2A PRDM10 ZNF512 ZNF692 POLR2A FOXA1 PRDM1 RFX1 MBNL3 RAP2C FRMD7 RF00017-8716
GH0XJ132118 Enhancer 0.7 Ensembl ENCODE 20.3 +8.3 8264 2.7 NRF1 CTBP1 ZNF217 ZNF24 RAD21 SMARCE1 ZFP36 PKNOX1 FRMD7 RAP2C lnc-STK26-6 STK26
GH0XJ132292 Enhancer 0.8 Ensembl ENCODE 18.1 -165.1 -165081 0.6 CTCF ZNF143 REST RAD21 TRIM22 SCRT2 BCLAF1 SMC3 PKNOX1 SCRT1 FRMD7 piR-57195-277 RAP2C RAP2C-AS1 lnc-RAP2C-3 MBNL3
GH0XJ132236 Enhancer 0.4 Ensembl ENCODE 29 -108.9 -108876 1.9 SPI1 FRMD7 RAP2C RAP2C-AS1 lnc-STK26-5 MN298717 lnc-STK26-6 MBNL3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRMD7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FRMD7

Top Transcription factor binding sites by QIAGEN in the FRMD7 gene promoter:
  • C/EBPbeta
  • E47
  • ER-alpha
  • FOXD3
  • FOXI1
  • Hand1
  • Ik-1
  • Nkx2-2
  • PPAR-alpha
  • Sox5

Genomic Locations for FRMD7 Gene

Genomic Locations for FRMD7 Gene
chrX:132,074,926-132,128,020
(GRCh38/hg38)
Size:
53,095 bases
Orientation:
Minus strand
chrX:131,211,021-131,262,050
(GRCh37/hg19)
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
    Miscellaneous:
    • [Isoform 2]: May play a role during neuronal differentiation and development. Shares a similar tissue distribution, co-localize with, and interact with isoform 1 in NT2 cells.

    Alternative splice isoforms for FRMD7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRMD7 Gene

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

Gene Families for FRMD7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FRMD7 Gene

GenScript: Design optimal peptide antigens:
  • FERM domain-containing protein 7 (FRMD7_HUMAN)
genes like me logo Genes that share domains with FRMD7: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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 From GWAS Catalog for FRMD7 Gene

Gene Ontology (GO) - Molecular Function for FRMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0030676 NOT Rac guanyl-nucleotide exchange factor activity IBA 21873635
genes like me logo Genes that share ontologies with FRMD7: view
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:
  • Frmd7 Frmd7<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for FRMD7 Gene

miRTarBase miRNAs that target FRMD7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMD7

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FRMD7 Gene

Localization for FRMD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMD7 Gene

Cell projection, neuron 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FRMD7 gene
Compartment Confidence
extracellular 4
cytoskeleton 3
cytosol 3
nucleus 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FRMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005856 cytoskeleton IEA --
GO:0030426 growth cone ISS --
GO:0042995 cell projection IEA --
GO:0043005 neuron projection ISS --
genes like me logo Genes that share ontologies with FRMD7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRMD7 Gene

Pathways & Interactions for FRMD7 Gene

PathCards logo

SuperPathways for FRMD7 Gene

No Data Available

Interacting Proteins for FRMD7 Gene

Gene Ontology (GO) - Biological Process for FRMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IEA --
GO:0010592 positive regulation of lamellipodium assembly IEA --
GO:0010975 regulation of neuron projection development ISS --
GO:0032091 negative regulation of protein binding IEA --
GO:0051057 positive regulation of small GTPase mediated signal transduction 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

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMD7

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

No ASD Table

Relevant External Links for FRMD7 Gene

GeneLoc Exon Structure for
FRMD7

Expression for FRMD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for FRMD7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FRMD7

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.

Evidence on tissue expression from TISSUES for FRMD7 Gene

  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMD7 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with FRMD7: view

Primer 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
Chimpanzee
(Pan troglodytes)
Mammalia FRMD7 30 31
  • 99.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FRMD7 30 31
  • 90.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FRMD7 30 31
  • 88.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Frmd7 30
  • 87.72 (n)
Mouse
(Mus musculus)
Mammalia Frmd7 30 17 31
  • 87.15 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FRMD7 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FRMD7 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FRMD7 30 31
  • 66.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FRMD7 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia frmd7 30
  • 72.65 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC557811 30
  • 58.82 (n)
frmd7 31
  • 46 (a)
OneToMany
FRMD7 (2 of 2) 31
  • 44 (a)
OneToMany
Dr.19490 30
Worm
(Caenorhabditis elegans)
Secernentea frm-3 31
  • 18 (a)
OneToOne
Species where no ortholog for FRMD7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for FRMD7: view image

Paralogs for FRMD7 Gene

Paralogs for FRMD7 Gene

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

  • FRMD7_HUMAN

Pseudogenes.org Pseudogenes for FRMD7 Gene

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

Variants for FRMD7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FRMD7 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
29978 Pathogenic: Infantile nystagmus, X-linked 132,080,001(-) C/T INTRON_VARIANT
712417 Conflicting Interpretations: Infantile nystagmus, X-linked; not provided 132,078,429(-) G/A MISSENSE_VARIANT
714968 Benign: Infantile nystagmus, X-linked; not provided 132,078,459(-) G/C MISSENSE_VARIANT
715212 Benign: not provided 132,078,935(-) C/A MISSENSE_VARIANT
722252 Benign: not provided 132,086,029(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FRMD7 Gene

Structural Variations from Database of Genomic Variants (DGV) for FRMD7 Gene

Variant ID Type Subtype PubMed ID
esv3574577 CNV loss 25503493

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)

Additional Variant Information for FRMD7 Gene

Human Gene Mutation Database (HGMD)
FRMD7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMD7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMD7 Gene

Disorders for FRMD7 Gene

MalaCards: The human disease database

(25) MalaCards diseases for FRMD7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nystagmus 1, congenital, x-linked
  • nys1
x-linked infantile nystagmus
  • nys1
inherited retinal disorder
  • retinal dystrophy
fundus dystrophy
  • retinal dystrophy
congenital nystagmus
  • nystagmus congenital
- 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.

Additional Disease Information for FRMD7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Nature genetics 2006) 2 3 4
  2. A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family. (PMID: 23946638) Liu Z … Ding M (Molecular vision 2013) 3 4
  3. Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. (PMID: 22490987) Radhakrishna U … Antonarakis SE (European journal of human genetics : EJHG 2012) 3 4
  4. Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. (PMID: 21365021) Li N … Zhao K (Molecular vision 2011) 3 4
  5. Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation. (PMID: 22128244) Li Y … Zhang B (Molecular vision 2011) 3 4

Products for FRMD7 Gene

Sources for FRMD7 Gene