RAB33B - RAB33B, member RAS oncogene family Gene

Homo sapiens

Also known as SMC2

Gene ID: 83452 | Gene type: protein coding

About RAB33B

Cytogenetic location: 4q31.1 Genomic coordinates (GRCh38): 4:139,438,376-139,476,609 (from NCBI)

This gene has 3 transcripts (splice variants), 272 orthologues, 68 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 5.5), ovary (RPKM 5.0) and 25 other tissues.

Summary

This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi Enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]

RAB33B Products(1)

mRNA	Protein	Name
NM_031296.3	NP_112586.1	ras-related protein Rab-33B

RAB33B Protein Structure

Ras

0
100
200
229 a.a.

Protein Preferred Names

Protein Names

ras-related protein Rab-33B

Related Diseases

Diseases

Alias

Smith-Mccort Dysplasia 2

SMC2	Dysplasia, Smith-Mccort, Type 2

Smith-Mccort Dysplasia 1

Smith-Mccort Dysplasia	SMC1
Smc	Smith Mccort Dysplasia
Smith-Mccort Dwarfism

Dyggve-Melchior-Clausen Disease

Dyggve-Melchior-Clausen Syndrome	DMC
Dmc Disease	Pseudo-Morquio Disease Type I
Dmc Syndrome

Microcephaly And Chorioretinopathy 2

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Spondyloepiphyseal Dysplasia Tarda	X-Linked Spondyloepiphyseal Dysplasia Tarda
SEDT	Sed Tarda, X-Linked
Spondyloepiphyseal Dysplasia, Late	Spondyloepiphyseal Dysplasia Tarda X-Linked
Sed	X Linked Spondyloepiphyseal Dysplasia Tarda
X-Linked Spondyloepiphyseal Dysplasia	Late Onset Spondyloepiphyseal Dysplasia
Sed Tarda	X-Linked Sed
X-Linked Sedt	Dysplasia, Spondyloepiphyseal, Tarda
Spondyloepiphyseal Dysplasia

Legionnaire Disease

Legionnaires' Disease	Legionnaires Disease
Legionnaire Disease, Susceptibility To	Legionella
Legionella Pneumonia	Infection By Legionella Pneumophilia
Legionnaire'S Disease	Legionellosis
Legionaire Disease, Susceptibility To	Legionnaires Pneumonia

Legionellosis

Legionella Infection	Pontiac Fever
Legionnaires' Disease	Infection By Legionella Pneumophilia
Legionella Pneumophila Infection

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica	Geroderma Osteodysplastica
GO	Walt Disney Dwarfism
Type Of Gerodermia Osteodysplastica

Microcephaly

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

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-RS11547	RAB33B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RAB33B	VGNC	VGNC:107433
Canis familiaris	RAB33B	VGNC	VGNC:45276
Bos taurus	RAB33B	VGNC	VGNC:33643
Macaca mulatta	RAB33B	VGNC	VGNC:81532
Rattus norvegicus	RAB33B	RGD	RGD:1308353
Mus musculus	RAB33B	MGD	MGI:1330805

Name
Email *

	Sorry, but the email address you supplied was invalid.