• Gene id: 90167

Gene Summary

• Gene Symbol: FRMD7   Gene   UCSC   Ensembl
• Aliases: NYS, NYS1, XIPAN
• Gene name: FERM domain containing 7
• Alternate names: FERM domain-containing protein 7,
• Gene location: Xq26.2 (132128021: 132074925)     Exons: 13     NC_000023.11
• Gene summary(Entrez): Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]
• OMIM: 300628

Protein Summary

• Protein general information: Q6ZUT3  
  • Name: FERM domain containing protein 7
  • Length: 714  
  • Mass: 81614
  • Tissue specificity: Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina. {ECO
• Sequence:

  MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCSHLNLAEKEYFGLEFCSHSGNNVWLELLKPITKQVKNPKEIVF
  KFMVKFFPVDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTALMVSHILQSELGDFHEETDRKHLAQTRYLPN
  QDCLEGKIMHFHQKHIGRSPAESDILLLDIARKLDMYGIRPHPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNW
  AKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFR
  YSGRTQRQLLEYGRKGRLKSLPFERKHYPSQYHERQCRSSPDLLSDVSKQVEDLRLAYGGGYYQNVNGVHASEPV
  LESRRRNSALEVTFATELEHSKPEADPTLLHQSQSSSSFPFIYMDPVFNTEPNPNPDPRDIFSERSSLSSFQTSC
  KFSGNHMSIYSGLTSKVRPAKQLTYTDVPYIPCTGQQVGIMPPQVFFYVDKPPQVPRWSPIRAEERTSPHSYVEP
  TAMKPAERSPRNIRMKSFQQDLQVLQEAIARTSGRSNINVGLEEEDPNLEDAFVCNIQEQTPKRSQSQSDMKTIR
  FPFGSEFRPLGPCPALSHKADLFTDMFAEQELPAVLMDQSTAERYVASESSDSESEILKPDYYALYGKEIRSPMA
  RIRLSSGSLQLDEEDEDAYFNTPTAEDRTSLKPCNYFLA

• Structural information:
  • Protein Domains: (2..28-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR019749  IPR041788  IPR014847  IPR014352  IPR035963   IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR011993  IPR029071  
  • Prosite: PS00660 PS50057
  • CDD: cd14473 cd13193
  • STRING: ENSP00000298542
• Other Databases: GeneCards:  FRMD7  Malacards:  FRMD7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	HDA	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0030426	growth cone	ISS	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0010975	regulation of neuron projection development	ISS	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IBA	NOT|molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010975	regulation of neuron projection development	IEA	biological process
GO:0032091	negative regulation of protein binding	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0010592	positive regulation of lamellipodium assembly	IEA	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0051057	positive regulation of small GTPase mediated signal transduction	IEA	biological process
GO:0051497	negative regulation of stress fiber assembly	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component

Diseases

Associated diseases	References
Congenital motor nystagmus	KEGG:H00776
Congenital motor nystagmus	KEGG:H00776
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)