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Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0030676 | NOT Rac guanyl-nucleotide exchange factor activity | IBA | 21873635 |
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 | -- |
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 | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FRMD7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FRMD7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FRMD7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Frmd7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Frmd7 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FRMD7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FRMD7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FRMD7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FRMD7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | frmd7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC557811 30 |
|
||
frmd7 31 |
|
OneToMany | |||
FRMD7 (2 of 2) 31 |
|
OneToMany | |||
Dr.19490 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | frm-3 31 |
|
OneToOne |
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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3574577 | CNV | loss | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nystagmus 1, congenital, x-linked |
|
|
x-linked infantile nystagmus |
|
|
inherited retinal disorder |
|
|
fundus dystrophy |
|
|
congenital nystagmus |
|
|