1. Gene
  2. MYRF - myelin regulatory factor Gene

MYRF - myelin regulatory factor Gene

中文名称:髓鞘调节因子

种属: Homo sapiens

同用名: MRF; CUGS; MMERV; Ndt80; 11orf9; pqn-47; C11orf9

基因 ID: 745 | 基因类型: protein coding

关于 MYRF

Cytogenetic location: 11q12.2 Genomic coordinates (GRCh38): 11:61,752,636-61,788,518 (from NCBI)

This gene has 11 transcripts (splice variants), 196 orthologues, 1 paralogue and is associated with 4 phenotypes. Biased expression in stomach (RPKM 32.1), brain (RPKM 26.8) and 11 other tissues.

功能概要

该基因编码中枢神经系统髓鞘形成所需的转录因子,并可能调节少突胶质细胞分化。它被认为通过增加影响髓磷脂生成的基因表达来发挥作用,但也可能直接促进髓磷脂基因表达。小鼠模型中相似基因的缺失会导致严重的脱髓鞘。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 11 月]

This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

MYRF 基因产物(2)

mRNA Protein Name
NM_001127392.3 NP_001120864.1 myelin regulatory factor isoform 2 precursor
NM_013279.4 NP_037411.1 myelin regulatory factor 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 identical protein binding IPI
IPI: 通过物理相互作用推断
23966832 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

MYRF 蛋白结构

NDT80_PhoG

NDT80_PhoG: NDT80 / PhoG like DNA-binding family (394 - 539)

Peptidase_S74

Peptidase_S74: Chaperone of endosialidase (587 - 647)

MRF_C1

MRF_C1: Myelin gene regulatory factor -C-terminal domain 1 (667 - 702)

MRF_C2

MRF_C2: Myelin gene regulatory factor C-terminal domain 2 (1015 - 1150)

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  • 1151 a.a.
蛋白主名 其他名称

myelin regulatory factor

myelin gene regulatory factor

关联疾病

疾病名称 别名
Cardiac-Urogenital Syndrome

CUGS

Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization

MMERV

Encephalitis/Encephalopathy, Mild, With Reversible Splenial Lesion

Mers

Nanophthalmos 1

NNO1

Nanophthalmia 1

Nanophthalmos, Autosomal Dominant

Nanophthalmos With High Hyperopia And Angle-Closure Glaucoma

Microphthalmos, Simple, Autosomal Dominant

Nanophthalmos-1

Dextrocardia

Heart Predominantly In Right Hemithorax

Heart In Right Chest

Right-Sided Heart

Congenital Dextrocardia Of Heart

Transposition Of Heart

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Total Anomalous Pulmonary Venous Return 1

Scimitar Syndrome

Total Anomalous Pulmonary Venous Return

Anomalous Pulmonary Venous Return

Scimitar Anomaly

TAPVR1

Apvr

Halasz Syndrome

Hypogenetic Lung Syndrome

Pulmonary Venolobar Syndrome

TAPVR

Congenital Total Pulmonary Venous Return Anomaly

Congenital Venolobar Syndrome

Mirror-Image Lung Syndrome

Vena Cava Bronchovascular Syndrome

Pulmonary Venous Return Anomaly

Congenital Pulmonary Venolobar Syndrome

Epibronchial Right Pulmonary Vein Syndrome

Aqueous Misdirection
Interval Angle-Closure Glaucoma

Intermittent Angle-Closure Glaucoma

Angle-Closure Glaucoma, Subacute

Prodromal Angle Closure Glaucoma

Microphthalmia, Isolated 6

Isolated Microphthalmia 6

MCOP6

Microphthalmia, Posterior Nonsyndromic

Posterior Nonsyndromic Microphthalmia

Microphthalmia, Isolated, 6

Autosomal Recessive Posterior Microphthalmos

Posterior Non-Syndromic Microphthalmia

Microphthalmia, Isolated, Type 6

Diaphragm Disease

Abnormality Of The Diaphragm

Disease Of Diaphragm

Diaphragmatic Disorder

Disorder Of Diaphragm

Nanophthalmos

Nanophthalmia

Diaphragmatic Eventration
Kenny-Caffey Syndrome

Kenny Syndrome

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease

Pcwh Syndrome

PCWH

Neurologic Waardenburg-Shah Syndrome

Waardenburg-Shah Syndrome, Neurologic Variant

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease

Ws4 Plus

Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease

Waardenburg-Shah Syndrome Neurologic Variant

Pelizaeus-Merzbacher Disease

PMD

HLD1

Pelizaeus-Merzbacher Brain Sclerosis

Leukodystrophy, Hypomyelinating, 1

Diffuse Familial Brain Sclerosis

Pelizaeus Merzbacher Brain Sclerosis

Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

Cockayne-Pelizaeus-Merzbacher Disease

Hypomyelinating Leukodystrophy 1

Leukodystrophy, Sudanophilic

Pelizaeus Merzbacher Disease

Hypomyelinating Leukodystrophy, 1

Sudanophilic Leukodystrophy

Pelizaeus-Merzbacher Disease, Connatal Form

Connatal Pmd

Pelizaeus-Merzbacher Disease Type Ii

Severe Pmd

Null Syndrome

Plp1 Null Syndrome

Pelizaeus-Merzbacher Disease, Null Syndrome

Brain Sclerosis Diffuse Familial

Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

Leukodystrophy Hypomyelinating 1

Diffuse Cerebral Sclerosis Of Schilder

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome

Dbs/Foar Syndrome

Foar Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Facio-Oculo-Acoustico-Renal Syndrome

Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria

Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

Holmes-Schepens Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness

DBS

Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria

Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss

Donnai Barrow Syndrome

Microphthalmia, Syndromic 9

Matthew-Wood Syndrome

Spear Syndrome

Anophthalmia/Microphthalmia And Pulmonary Hypoplasia

Microphthalmia, Isolated, With Coloboma 8

MCOPS9

Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

Pdac

Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect

Pmd

Syndromic Microphthalmia 9

Anophthalmia-Pulmonary Hypoplasia Syndrome

Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations

Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect

Microphthalmia Syndromic 9

Matthew Wood Syndrome

Pdac Syndrome

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

Microphthalmia, Isolated, With Coloboma, 8

MCOPCB8

Isolated Colobomatous Microphthalmia 8

Microphthalmia, Syndromic, 9

Anophthalmia With Pulmonary Hypoplasia

Microphthalmia Syndromic, Type 9

Anophthalmia And Pulmonary Hypoplasia

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Retinal Degeneration

Degeneration Of Retina

Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating

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
Macaca mulatta MYRF VGNC VGNC:74949
Rattus norvegicus MYRF RGD RGD:1306622
Felis catus MYRF VGNC VGNC:63696
Mus musculus MYRF MGD MGI:2684944
Bos taurus MYRF VGNC VGNC:31844
Canis familiaris MYRF VGNC VGNC:43588