RAB18 - RAB18, member RAS oncogene family Gene

Homo sapiens

Also known as WARBM3; RAB18LI1

Gene ID: 22931 | Gene type: protein coding

About RAB18

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:27,504,304-27,542,239 (from NCBI)

This gene has 45 transcripts (splice variants), 183 orthologues, 68 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 23.5), brain (RPKM 23.2) and 25 other tissues.

Summary

The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

RAB18 Products(4)

mRNA	Protein	Name
NM_001256410.2	NP_001243339.1	ras-related protein Rab-18 isoform 2
NM_001256411.2	NP_001243340.1	ras-related protein Rab-18 isoform 3
NM_001256412.2	NP_001243341.1	ras-related protein Rab-18 isoform 5
NM_021252.5	NP_067075.1	ras-related protein Rab-18 isoform 1

RAB18 Protein Structure

Ras

0
100
206 a.a.

Protein Preferred Names

Protein Names

ras-related protein Rab-18

RAB18 small GTPase

Related Diseases

Diseases

Alias

Warburg Micro Syndrome 3

WARBM3

Micro Syndrome 3

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

Rab18 Deficiency

Warburg Micro Syndrome 2

WARBM2

Micro Syndrome 2

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Martsolf Syndrome 1

Martsolf Syndrome	Cataract-Intellectual Disability-Hypogonadism Syndrome
MARTS1	Marts
Cataract-Mental Retardation-Hypogonadism	Martsolf

Warburg Micro Syndrome 4

WARBM4

Micro Syndrome 4

Intellectual Developmental Disorder, Autosomal Dominant 38

Psychomotor Retardation, Epilepsy, And Language Disability Syndrome	MRD38
Prelds	Autosomal Dominant Non-Syndromic Intellectual Disability 38
Mental Retardation, Autosomal Dominant 38	Autosomal Dominant Intellectual Developmental Disorder 38
Autosomal Dominant Mental Retardation 38	Mental Retardation, Autosomal Dominant, Type 38

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Sotos Syndrome 2

Sotos2

Sotos Syndrome, Type 2

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

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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-RS11526	RAB18 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RAB18	VGNC	VGNC:33624
Felis catus	RAB18	VGNC	VGNC:97582
Macaca mulatta	RAB18	VGNC	VGNC:106095
Canis familiaris	RAB18	VGNC	VGNC:45257
Mus musculus	RAB18	MGD	MGI:102790
Rattus norvegicus	RAB18	RGD	RGD:1308905

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