RAB39B - RAB39B, member RAS oncogene family Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 116442

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	References	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	References	Source
involved in regulation of autophagy	IMP IMP: Inferred from mutant phenotype	27103069	GOA

Cellular Component GO Annotation	Evidence	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	RAB39B	NCBI