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  2. RAB39B - RAB39B, member RAS oncogene family Gene

RAB39B - RAB39B, member RAS oncogene family Gene

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

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

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

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