FRMD7 (FERM domain containing 7)

Gene

• Entrez ID: 90167
• Gene name: FERM domain containing 7
• Gene symbol: FRMD7
• Synonyms: NYS, NYS1, XIPAN
• Chromosome: X
• Chromosome location: Xq26.2
• Summary: Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852207	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852208	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852209	C>T	Pathogenic	Missense variant, synonymous variant, coding sequence variant, intron variant, genic upstream transcript variant
rs137852210	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant, genic upstream transcript variant
rs137852211	A>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs137852212	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs387906720	A>C,T	Pathogenic	Missense variant, coding sequence variant
rs387906721	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs786205896	T>C	Pathogenic	Missense variant, coding sequence variant
rs886041507	C>T	Pathogenic	Splice donor variant
rs1602791884	C>T	Pathogenic	Intron variant
rs1602818287	C>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024029	hsa-miR-1-3p	Microarray	18668037
MIRT1004746	hsa-miR-34b	CLIP-seq
MIRT1004747	hsa-miR-34c-3p	CLIP-seq
MIRT1004748	hsa-miR-3661	CLIP-seq
MIRT1004749	hsa-miR-3685	CLIP-seq
MIRT1004750	hsa-miR-384	CLIP-seq
MIRT1004751	hsa-miR-433	CLIP-seq
MIRT1004752	hsa-miR-4464	CLIP-seq
MIRT1004753	hsa-miR-4704-3p	CLIP-seq
MIRT1004754	hsa-miR-4748	CLIP-seq
MIRT1004755	hsa-miR-4760-3p	CLIP-seq
MIRT1004756	hsa-miR-495	CLIP-seq
MIRT1004757	hsa-miR-577	CLIP-seq
MIRT1004758	hsa-miR-631	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0007399	Process	Nervous system development	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IEA
GO:0010975	Process	Regulation of neuron projection development	IBA	21873635
GO:0010975	Process	Regulation of neuron projection development	ISS
GO:0030426	Component	Growth cone	ISS
GO:0032091	Process	Negative regulation of protein binding	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	ISS
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	IEA
GO:0051497	Process	Negative regulation of stress fiber assembly	IEA

Other IDs

• MIM: 300628
• HGNC: 8079
• e!Ensembl: ENSG00000165694

Protein

• UniProt ID: Q6ZUT3
• Protein name: FERM domain-containing protein 7
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09379	FERM_N	6 → 69	FERM N-terminal domain	Domain
  PF00373	FERM_M	85 → 192	FERM central domain	Domain
  PF09380	FERM_C	196 → 286	FERM C-terminal PH-like domain	Domain
  PF08736	FA	291 → 334	FERM adjacent (FA)	Family

• Sequence:

  MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCSHLNLAEKEYFGLEFCSHSGNNVWLELL
  KPITKQVKNPKEIVFKFMVKFFPVDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTAL
  MVSHILQSELGDFHEETDRKHLAQTRYLPNQDCLEGKIMHFHQKHIGRSPAESDILLLDI
  ARKLDMYGIRPHPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNWAKIRKLSFKRKHFLI
  KLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFR
  YSGRTQRQLLEYGRKGRLKSLPFERKHYPSQYHERQCRSSPDLLSDVSKQVEDLRLAYGG
  GYYQNVNGVHASEPVLESRRRNSALEVTFATELEHSKPEADPTLLHQSQSSSSFPFIYMD
  PVFNTEPNPNPDPRDIFSERSSLSSFQTSCKFSGNHMSIYSGLTSKVRPAKQLTYTDVPY
  IPCTGQQVGIMPPQVFFYVDKPPQVPRWSPIRAEERTSPHSYVEPTAMKPAERSPRNIRM
  KSFQQDLQVLQEAIARTSGRSNINVGLEEEDPNLEDAFVCNIQEQTPKRSQSQSDMKTIR
  FPFGSEFRPLGPCPALSHKADLFTDMFAEQELPAVLMDQSTAERYVASESSDSESEILKP
  DYYALYGKEIRSPMARIRLSSGSLQLDEEDEDAYFNTPTAEDRTSLKPCNYFLA

• Sequence length: 714

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Nystagmus	Nystagmus 1, congenital, X- linked, NON RARE IN EUROPE: Idiopathic infantile nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896	18246032, 18431453, 23946638, 17893669, 22490987, 21303855, 17846367, 21365021, 19892780, 17013395, 17397053, 17962394, 17768376, 18087240

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital nystagmus	Congenital nystagmus
Horizontal nystagmus	Horizontal Nystagmus
Pendular nystagmus	Pendular Nystagmus