FRMD7 - FERM domain containing 7 Gene

Also Known as NYS; NYS1; XIPAN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 90167

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	References	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

FRMD7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FRMD7	Q6ZUT3	CLNS1A	Homo sapiens	P54105	Y2H Prey Pooling	32296183
Intra	FRMD7	Q6ZUT3	CLNS1A	Homo sapiens	P54105	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	FRMD7	NCBI