RAB39B - RAB39B, member RAS oncogene family Gene

Homo sapiens

Also known as WSN; BGMR; WSMN; MRX72; XLID72

Gene ID: 116442 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_171998.4	NP_741995.1	ras-related protein Rab-39B

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables myosin V binding	IPI IPI: Inferred from physical interaction	24006491	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24705354	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of autophagy	IMP IMP: Inferred from mutant phenotype	27103069	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	20159109	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	24006491	GOA
located in vesicle	IDA IDA: Inferred from direct assay	24006491	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

RAB39B Protein Structure

Ras

0
100
200
213 a.a.

Protein Preferred Names

Protein Names

ras-related protein Rab-39B

Waisman syndrome

RAB39B Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RAB39B	Q96DA2	RUFY1	Homo sapiens	Q96T51	Y2H Prey Pooling	25416956
Intra	RAB39B	Q96DA2	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11554	RAB39B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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