RAB33B

RAB33B
Identifiers
Aliases	RAB33B, SMC2, member RAS oncogene family
External IDs	OMIM: 605950; MGI: 1330805; HomoloGene: 9642; GeneCards: RAB33B; OMA:RAB33B - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	139,476,609 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	51,403,653 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; saphenous vein; ; urethra; ; Region I of hippocampus proper; ; subthalamic nucleus; ; synovial joint; ; lateral nuclear group of thalamus; ; dorsal motor nucleus of vagus nerve; ; inferior olivary nucleus; ; superficial temporal artery;
	Top expressed in
	transitional epithelium of urinary bladder; ; sciatic nerve; ; Ileal epithelium; ; iris; ; trigeminal ganglion; ; median eminence; ; ureter; ; vas deferens; ; medullary collecting duct; ; condyle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; nucleotide binding; GTP binding; GTPase activity;
Cellular component	membrane; Golgi lumen; Golgi apparatus; Golgi membrane; presynapse; endoplasmic reticulum membrane;
Biological process	negative regulation of constitutive secretory pathway; regulation of Golgi organization; intra-Golgi vesicle-mediated transport; regulation of epithelial cell proliferation; regulation of retrograde vesicle-mediated transport, Golgi to ER; protein transport; skeletal system morphogenesis; autophagy; regulation of cell growth; autophagosome assembly; regulation of autophagosome assembly; protein localization to Golgi apparatus; intracellular protein transport; endoplasmic reticulum to Golgi vesicle-mediated transport; Rab protein signal transduction;
	Sources:Amigo / QuickGO
Orthologs
	83452
	19338
	ENSG00000172007
	ENSMUSG00000027739
	Q9H082
	O35963
	NM_031296
	NM_016858
	NP_112586
	NP_058554
	Wikidata
View/Edit Human	View/Edit Mouse

Ras-related protein Rab-33B is a protein that in humans is encoded by the RAB33B gene.^[5]

Mutations in this gene have been associated to cases of Dyggve-Melchior-Clausen syndrome.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000172007 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027739 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "RAB33B, member RAS oncogene family".
^ Alshammari MJ, Al-Otaibi L, Alkuraya FS (May 2012). "Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve-Melchior-Clausen locus". J Med Genet. 49 (7): 455–61. doi:10.1136/jmedgenet-2011-100666. PMID 22652534. S2CID 206997124.