1. Gene
  2. FRMD7 - FERM domain containing 7 Gene

FRMD7 - FERM domain containing 7 Gene

中文名称:含 FERM 域 7

种属: Homo sapiens

同用名: NYS; NYS1; XIPAN

基因 ID: 90167 | 基因类型: protein coding

关于 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.

功能概要

该基因的突变与 X 连锁先天性眼球震颤有关。[RefSeq 提供,2008 年 12 月]

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

FRMD7 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FRMD7 蛋白结构

FERM_N

FERM_N: FERM N-terminal domain (6 - 83)

FERM_M

FERM_M: FERM central domain (85 - 192)

FERM_C

FERM_C: FERM C-terminal PH-like domain (197 - 286)

FA

FA: FERM adjacent (FA) (292 - 335)

  • 0
  • 200
  • 400
  • 600
  • 714 a.a.
蛋白主名 其他名称

FERM domain-containing protein 7

FRMD7 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
FRMD7 Q6ZUT3 CLNS1A Homo sapiens P54105
Y2H Prey Pooling
32296183
种属内
FRMD7 Q6ZUT3 CLNS1A Homo sapiens P54105
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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