2. Gene
  3. RAB39B - RAB39B, member RAS oncogene family Gene

RAB39B - RAB39B, member RAS oncogene family Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：RAB39B，RAS 致癌基因家族成员

种属: Homo sapiens

同用名: WSN; BGMR; WSMN; MRX72; XLID72

基因 ID: 116442 | 基因类型: protein coding

关于 RAB39B

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:155,258,235-155,264,491 (from NCBI)

This gene has 1 transcript (splice variant), 269 orthologues, 68 paralogues and is associated with 7 phenotypes. Biased expression in brain (RPKM 8.4), lymph node (RPKM 3.0) and 11 other tissues.

功能概要

该基因编码 Rab 蛋白家族的一个成员。 Rab 蛋白是参与囊泡运输的小 GTP 酶。该基因的突变与 X 连锁认知障碍有关。[RefSeq 提供，2013 年 8 月]

This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]

RAB39B 基因产物(1)

mRNA Protein Name
NM_171998.4 NP_741995.1 ras-related protein Rab-39B
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables myosin V binding IPI
IPI: 通过物理相互作用推断
24006491 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24705354 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of autophagy IMP
IMP: 通过突变表型推断
27103069 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
20159109 GOA
located in neuron projection IDA
IDA: 通过直接分析推断
24006491 GOA
located in vesicle IDA
IDA: 通过直接分析推断
24006491 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

RAB39B 蛋白结构

Ras

Ras: Ras family (10 - 172)

  • 0
  • 100
  • 200
  • 213 a.a.
蛋白主名 其他名称

ras-related protein Rab-39B

Waisman syndrome

RAB39B 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
Intra RAB39B Q96DA2 RUFY1 Homo sapiens Q96T51
Y2H Prey Pooling
25416956
Intra RAB39B Q96DA2 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
25416956
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
Waisman Syndrome

Early-Onset Parkinsonism-Intellectual Disability Syndrome

Bgmr

Wsn

Laxova-Opitz Syndrome

WSMN

Parkinsonism, Early-Onset, With Mental Retardation

Basal Ganglion Disorder With Mental Retardation

Basal Ganglia Disorder With Intellectual Disability

Laxova Brown Hogan Syndrome

X-Linked Recessive Basal Ganglia Disorder With Intellectual Disability
Intellectual Developmental Disorder, X-Linked 72

XLID72

Mrx72
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Chromosome Xq28 Duplication Syndrome

Distal Xq28 Microduplication Syndrome

Distal Dup(X)Q(28)

Distal Trisomy Xq28

Int22h1/Int22h2 Mediated-Xq28 Microduplication Syndrome
Non-Syndromic X-Linked Intellectual Disability 72

Mrx72
Non-Syndromic X-Linked Intellectual Disability 41

Mrx41

Mrx48

X-Linked Mental Retardation 48
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome

Mental Retardation, X-Linked, Syndromic 32

Mrxs32
Acute Dacryocystitis

Dacryocystitis - Acute
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease
Syndromic X-Linked Intellectual Disability Lubs Type

Lubs X-Linked Mental Retardation Syndrome

Mecp2 Duplication Syndrome

Mental Retardation, X-Linked, Syndromic, Lubs Type

Mental Retardation, X-Linked, With Recurrent Respiratory Infections

Mrxsl

X-Linked Intellectual Disability-Hypotonia-Recurrent Infections Syndrome

Mental Retardation, X-Linked Syndromic, Lubs Type
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Parkinson Disease 21

PARK21

Parkinson'S Disease 21

Parkinson Disease, Type 21
Gene Duplication Disease

Gene Duplication Syndrome
Carpenter Syndrome 1

Carpenter Syndrome

Acrocephalopolysyndactyly Type Ii

Acps Ii

CRPT1

Acrocephalopolysyndactyly Type 2

Acrocephalosyndactyly, Type Ii

Acrocephalopolysyndactyly 2

Acps2

Acps 2

Type Ii Acrocephalosyndactyly

Carpenter Syndrome, Type 1

Apert-Crouzon Disease
Smith-Mccort Dysplasia 1

Smith-Mccort Dysplasia

SMC1

Smc

Smith Mccort Dysplasia

Smith-Mccort Dwarfism
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia
Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency

Favism

Favism, Susceptibility To

Hemolytic Anemia, G6pd Deficient

Class I Glucose-6-Phosphate Dehydrogenase Deficiency

Class I G6pd Deficiency

Severe Hemolytic Anemia Due To G6pd Deficiency

Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency

NSHA

G6pd Deficient Hemolytic Anemia
Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease
Syndromic Intellectual Disability
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11554 RAB39B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus RAB39B MGD MGI:1915040
Bos taurus RAB39B VGNC VGNC:33648
Canis familiaris RAB39B VGNC VGNC:45281
Macaca mulatta RAB39B VGNC VGNC:81538
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