FRMD7 - FERM domain containing 7 Gene

Homo sapiens

Also known as NYS; NYS1; XIPAN

Gene ID: 90167 | Gene type: protein coding

About FRMD7

Cytogenetic location: Xq26.2 Genomic coordinates (GRCh38): X:132,076,990-132,128,020 (from NCBI)

This gene has 4 transcripts (splice variants), 217 orthologues, 10 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]

FRMD7 Products(2)

mRNA	Protein	Name
NM_001306193.2	NP_001293122.1	FERM domain-containing protein 7 isoform 2
NM_194277.3	NP_919253.1	FERM domain-containing protein 7 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FRMD7 Protein Structure

FERM_N

FERM_M

FERM_C

0
200
400
600
714 a.a.

Protein Preferred Names

Protein Names

FERM domain-containing protein 7

Related Diseases

Diseases

Alias

Nystagmus 1, Congenital, X-Linked

NYS1	Nystagmus, Congenital Motor, 1
Nystagmus, Infantile Periodic Alternating, X-Linked	Nystagmus 1, Congenital, X- Linked
Nystagmus 1, Infantile, X-Linked	Nystagmus, Infantile Idiopathic, Formerly
Iin, Formerly	Nystagmus Congenital X-Linked 1
Nystagmus 1 Infantile X-Linked	Nystagmus Congenital Motor 1
Nystagmus Infantile Idiopathic	Nystagmus Infantile Periodic Alternating X-Linked
Xipan	Xlpan
Nystagmus, Type 1, Congenital, X-Linked

Frmd7-Related Infantile Nystagmus

Nys1	X-Linked Idiopathic Infantile Nystagmus
X-Linked Infantile Nystagmus	Congenital Motor Nystagmus
Idiopathic Infantile Nystagmus	X-Linked Congenital Nystagmus
Nystagmus, Infantile Idiopathic	Nystagmus 1, Congenital, X- Linked

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Pathologic Nystagmus

Nystagmus

Dissociated Nystagmus

Spontaneous Ocular Nystagmus

Visual Deprivation Nystagmus	Ocular Nystagmus
Searching Eye Movements	Nystagmus, Pathologic

Astigmatism

Nystagmus 6, Congenital, X-Linked

NYS6	Congenital Nystagmus 6
X-Linked Congenital Nystagmus 6	Nystagmus Congenital X-Linked 6
Nystagmus, Type 6, Congenital, X-Linked

Nystagmus 7, Congenital, Autosomal Dominant

NYS7	Congenital Nystagmus 7
Autosomal Dominant Congenital Nystagmus 7

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Nystagmus 3, Congenital, Autosomal Dominant

NYS3	Congenital Nystagmus 3
Autosomal Dominant Congenital Nystagmus 3

Palmoplantar Keratoderma And Congenital Alopecia 2

Cataract-Alopecia-Sclerodactyly Syndrome	Cass
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	PPKCA2
Autosomal Recessive Palmoplantar Hyperkeratosis And Congenital Alopecia	Palmoplantar Keratoderma And Congenital Alopecia, Wallis Type
Ppk-Ca, Wallis Type	Cataract, Alopecia, Sclerodactyly
Ppkca, Wallis Type	Ppkca Wallis Type
Cataract, Alopecia, Sclerodactyly Syndrome

Hypotropia

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Congenital Nystagmus 1

Congenital Motor Nystagmus 1	Nys1
X-Linked Infantile Nystagmus 1

Myasthenic Syndrome, Congenital, 10

Congenital Myasthenic Syndrome 10	CMS10
Lgm	Myasthenia, Limb-Girdle, Familial
Myasthenia, Limb-Girdle, Familial, Formerly	Lgm, Formerly
Congenital Myasthenic Syndrome Type Ib, Formerly	Cms1b, Formerly
Cms Ib, Formerly	Myasthenic Myopathy, Formerly
Familial Limb-Girdle Myasthenia	Cms1b
Cms Ib	Congenital Myasthenic Syndrome Type 1b
Congenital Myasthenic Syndrome Type Ib	Myasthenic Myopathy
Myasthenic Syndrome, Congenital, Type 10	Congenital Myasthenic Syndrome Ib
Myopathy In Myasthenia Gravis

Ocular Albinism

Albinism, Ocular	Oa
Xloa	Albinism Ocular

Cranial Nerve Disease

Cranial Nerve Disorder	Disorder Of Cranial Nerve
Cranial Nerve Diseases

Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia	Bilateral Optic Nerve Hypoplasia
Optic Nerve Hypoplasia, Familial Bilateral	Familial Bilateral Optic Nerve Hypoplasia
Isolated Optic Nerve Hypoplasia/Aplasia	Optic Nerve Aplasia, Bilateral
Onh	BONH
Bilateral Optic Nerve Aplasia	Hypoplasia, Optic Nerve, Bilateral

Exotropia

Divergent Concomitant Strabismus	Divergent Strabismus
Divergent Squint	External Strabismus
Xt - [Exotropia]

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

Vestibular Nystagmus

Nystagmus Associated With Disorder Of The Vestibular System

Color Blindness

Color Vision Defect	Blindness Color
Colour Blindness	Colour Vision Deficiency
Color Vision Deficiency	Color Vision Defects
Defective Color Vision	Vision Defect, Color
Color-Vision Disease	Dyschromatopsia

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Aniridia 1

Aniridia	Congenital Aniridia
AN1	An
Cataract With Late-Onset Corneal Dystrophy	Aplasia Of Iris
Absent Iris	Irideremia
Aniridia Ii, Formerly	An2, Formerly
An2	Aniridia Type Ii
Aniridia, Type 1	An-1
Absence Of Iris	Agenesis Of Iris
Congenital Absence Of Iris	Hereditary Aniridia
Sporadic Aniridia

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Opitz-Kaveggia Syndrome

Fg Syndrome	Fgs1
Fgs	Keller Syndrome
OKS	Fg Syndrome 1
Fg Syndrome Type 1	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy	Fevr
Criswick-Schepens Syndrome	Exudative Vitreoretinopathy, Familial
Vitreoretinopathy, Exudative )	Exudative Vitreoretinopathy 1

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05105	FRMD7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FRMD7	RGD	RGD:1562057
Mus musculus	FRMD7	MGD	MGI:2686379
Canis familiaris	FRMD7	VGNC	VGNC:40984
Bos taurus	FRMD7	VGNC	VGNC:29118
Felis catus	FRMD7	VGNC	VGNC:68605
Macaca mulatta	FRMD7	VGNC	VGNC:72927