Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	90167
Gene name	FERM domain containing 7
Gene symbol	FRMD7
Synonyms (NCBI Gene)	NYSNYS1XIPAN
Chromosome	X
Chromosome location	Xq26.2
Summary	Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]

Show/Hide all (12)

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

Show/Hide all (14)

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

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
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: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
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0010975	Process	Regulation of neuron projection development	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	IEA
GO:0051497	Process	Negative regulation of stress fiber assembly	IEA

MIM	HGNC	e!Ensembl
300628	8079	ENSG00000165694

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

Tissue specificity

TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina. {ECO:0000269|PubMed:17013395}.

Sequence

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

Sequence length

714

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Nystagmus 1, congenital, X-linked	Likely pathogenic; Pathogenic	rs1429474154, rs1332489637, rs2520731322, rs786205896, rs1297486092, rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720 View all (4 more)	RCV005253800 RCV005867172 RCV002291128 RCV000172871 RCV004587468 RCV000011529 RCV000011530 RCV000011531 RCV000011532 RCV000011533 RCV000011534 RCV000011535 RCV000011536 RCV000011537 RCV000022868 RCV000022869 RCV000022870 RCV001253283 RCV003225169
Retinal dystrophy	Pathogenic	rs1928365871	RCV001074068
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1297486092	RCV005927043

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
FRMD7-related disorder	Benign; Conflicting classifications of pathogenicity	rs149159499, rs145552208, rs756275505	RCV003908855 RCV003966136 RCV003973448
Infantile Nystagmus	Uncertain significance	rs769045184	RCV000346056

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albinism	Associate	35157951, 35488210
Developmental Disabilities	Associate	24688117
Genetic Diseases Inborn	Associate	36833273
Myopia	Associate	37749571, 38243264
Nystagmus 1 congenital X linked	Associate	22065930
Nystagmus 5 Infantile Periodic Alternating	Associate	21303855
Nystagmus Congenital	Associate	10090899, 22262942, 22490987, 24169426, 38279119
Nystagmus Pathologic	Associate	21303855, 22490987, 23406872, 24688117, 26268155, 27036142, 30576400, 31743612, 38279119
O'Donnell Pappas syndrome	Associate	35157951
Progressive hearing loss stapes fixation	Associate	37749571
X Linked Infantile Nystagmus	Associate	10090899, 17013395, 18246032, 18431453, 21303855, 21365021, 22065930, 22262942, 22490987, 23406872, 23733424, 23946638, 24434814, 24688117, 26268155 View all (15 more)

FRMD7 (FERM domain containing 7)