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
  • 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 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

Additional gene information 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 for FRMD7 Gene

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 -89209 5.7 ZBTB40 CTCF ZBTB6 SMARCE1 POLR2A NR2F6 HCFC1 MYC CC2D1A ETV6 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 -360872 6.1 POLR2A MYC HLF MAX RAD21 ZNF652 NKRF ELF3 CEBPG ZNF687 MBNL3 RAP2C FRMD7 RF00017-8714
GH0XJ132292 Enhancer 0.7 Ensembl ENCODE 18.1 -165.1 -165079 0.6 CTCF RAD21 PKNOX1 REST TRIM22 ZNF143 SCRT2 SCRT1 BCLAF1 RFX5 FRMD7 piR-57195-277 RAP2C-AS1 lnc-RAP2C-3
GH0XJ132118 Enhancer 0.6 Ensembl ENCODE 20.3 +8.3 8266 2.7 ZNF217 PKNOX1 CTBP1 NRF1 SMARCE1 FRMD7 RAP2C lnc-STK26-6
GH0XJ132181 Enhancer 0.6 Ensembl 20.1 -53.5 -53492 0.6 MNT NFIB SP1 NCOA3 MYC RXRA CTBP1 JUND PKNOX1 ZNF217 FRMD7 piR-61539-010 HSALNG0140180 lnc-STK26-6
- 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 UCSC Golden Path with GeneCards custom track

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:132,076,993-132,128,022
(GRCh38/hg38)
Size:
51,030 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

    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

Clone Products

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. 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
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 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

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 6)
STRING Interaction Network
Selected Interacting proteins: ENSP00000298542 Q6ZUT3-FRMD7_HUMAN for FRMD7 Gene via STRING IID

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) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of FRMD7 Gene:

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.

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

No data available for Protein differential expression in normal tissues and Evidence on tissue expression from 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 33 32
  • 99.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FRMD7 33 32
  • 90.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FRMD7 33 32
  • 88.34 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Frmd7 32
  • 87.72 (n)
mouse
(Mus musculus)
Mammalia Frmd7 17 33 32
  • 87.15 (n)
oppossum
(Monodelphis domestica)
Mammalia FRMD7 33
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRMD7 33
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRMD7 33 32
  • 66.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FRMD7 33
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd7 32
  • 72.65 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC557811 32
  • 58.82 (n)
frmd7 33
  • 46 (a)
OneToMany
FRMD7 (2 of 2) 33
  • 44 (a)
OneToMany
Dr.19490 32
worm
(Caenorhabditis elegans)
Secernentea frm-3 33
  • 18 (a)
OneToOne
Species where no ortholog for FRMD7 was found in the sources mined by GeneCards:
  • 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)
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 from dbSNP and Humsavar for FRMD7 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1057515769 uncertain-significance, Infantile Nystagmus 132,077,579(-) C/G 3_prime_UTR_variant
rs1057515770 uncertain-significance, Infantile Nystagmus 132,077,676(-) C/G 3_prime_UTR_variant
rs1057515771 uncertain-significance, Infantile Nystagmus 132,082,364(-) T/G coding_sequence_variant, missense_variant
rs1057515772 uncertain-significance, Infantile Nystagmus 132,127,944(-) C/A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1057515773 uncertain-significance, Infantile Nystagmus 132,127,946(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

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

(13) MalaCards diseases for FRMD7 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- 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
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 56
  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 56
  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 56
  4. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. (PMID: 21303855) Thomas MG … Gottlob I (Brain : a journal of neurology 2011) 3 4 56
  5. 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 56

Products for FRMD7 Gene

Sources for FRMD7 Gene