RAB38 Gene

HGNC Family	Ras small GTPases superfamily
Name	RAB38, member RAS oncogene family
Description	Enables several functions, including AP-1 adaptor complex binding activity; AP-3 adaptor complex binding activity; and BLOC-2 complex binding activity. Involved in several processes, including endosome to melanosome transport; melanosome assembly; and phagosome acidification. Located in several cellular components, including cytoplasmic vesicle; lysosome; and mitochondria-associated endoplasmic reticulum membrane contact site. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRAB38 is a small Rab GTPase that plays a central role in the biogenesis of lysosome‐related organelles, most notably melanosomes in pigment cells. It ensures the proper sorting and delivery of melanin‐synthesizing enzymes from early endosomes to maturing melanosomes. RAB38’s activity is regulated by the BLOC‐3 complex, which acts as its guanine nucleotide exchange factor, and its function is further refined through interactions with cell type–specific effectors such as Varp and motor proteins like Myosin Vc. In addition, genetic studies have implicated RAB38 as a candidate gene in oculocutaneous albinism, highlighting its critical role in melanogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its role in pigment cell physiology, RAB38 has been linked to several disease processes. In diabetic kidney disease models, loss of Rab38 perturbs the trafficking of proximal tubule proteins—thereby contributing to albuminuria—while in chronic myelogenous leukemia RAB38 is among the antigens that elicit robust B‐cell responses following immune‐based therapy. Moreover, overexpression of RAB38 has been associated with aggressive tumor characteristics in various malignancies including glioma, pancreatic adenocarcinoma, and glioblastoma, where its deregulation contributes to enhanced cell proliferation, migration, and altered metabolic profiles. These studies collectively suggest that RAB38 is not only vital for normal vesicle trafficking and organelle biogenesis but may also serve as a promising biomarker and therapeutic target in cancer."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Tamio Suzuki, Yoshinori Miyamura, Katsuhiko Inagaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Dermatol Sci (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0923-1811(03)00071-9"}], "href": "https://doi.org/10.1016/s0923-1811(03"}, {"type": "t", "text": "00071-9) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12850305"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12850305"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Fang Wang, Haiwei Zhang, Xinjun Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Varp interacts with Rab38 and functions as its potential effector."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2008.05.017"}], "href": "https://doi.org/10.1016/j.bbrc.2008.05.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18477474"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18477474"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jarred J Bultema, Andrea L Ambrosio, Carolyn L Burek, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M112.351908"}], "href": "https://doi.org/10.1074/jbc.M112.351908"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22511774"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22511774"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Andreas Gerondopoulos, Lars Langemeyer, Jin-Rui Liang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Biol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cub.2012.09.020"}], "href": "https://doi.org/10.1016/j.cub.2012.09.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23084991"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23084991"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jarred J Bultema, Judith A Boyle, Parker B Malenke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Myosin vc interacts with Rab32 and Rab38 proteins and works in the biogenesis and secretion of melanosomes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M114.578948"}], "href": "https://doi.org/10.1074/jbc.M114.578948"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25324551"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25324551"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Alexandra Unapanta, Farbod Shavarebi, Jacob Porath, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Endogenous Rab38 regulates LRRK2's membrane recruitment and substrate Rab phosphorylation in melanocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jbc.2023.105192"}], "href": "https://doi.org/10.1016/j.jbc.2023.105192"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37625589"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37625589"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Melinda A Biernacki, Ovidiu Marina, Wandi Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Efficacious immune therapy in chronic myelogenous leukemia (CML) recognizes antigens that are expressed on CML progenitor cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-09-2303"}], "href": "https://doi.org/10.1158/0008-5472.CAN-09-2303"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20103624"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20103624"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Hongjun Wang, Chuanlu Jiang "}, {"type": "b", "children": [{"type": "t", "text": "RAB38 confers a poor prognosis, associated with malignant progression and subtype preference in glioma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Rep (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/or.2013.2730"}], "href": "https://doi.org/10.3892/or.2013.2730"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24026199"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24026199"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Alexander Teumer, Adrienne Tin, Rossella Sorice, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/db15-1313"}], "href": "https://doi.org/10.2337/db15-1313"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26631737"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26631737"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Bao-Yu Li, Li-Jie He, Xiang-Lian Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High expression of RAB38 promotes malignant progression of pancreatic cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2018.9732"}], "href": "https://doi.org/10.3892/mmr.2018.9732"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30569114"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30569114"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Elena Bianchetti, Sierra J Bates, Trang T T Nguyen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RAB38 Facilitates Energy Metabolism and Counteracts Cell Death in Glioblastoma Cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cells (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/cells10071643"}], "href": "https://doi.org/10.3390/cells10071643"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34209035"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34209035"}]}]}]}
Synonyms	NY-MEL-1, RRGTPBP
Proteins	RAB38_HUMAN
NCBI Gene ID	23682
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

RAB38 has 5,872 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 112 datasets.

Click the + buttons to view associations for RAB38 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

RAB38 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of RAB38 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of RAB38 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of RAB38 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of RAB38 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of RAB38 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of RAB38 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of RAB38 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of RAB38 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of RAB38 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with RAB38 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with RAB38 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of RAB38 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of RAB38 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of RAB38 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of RAB38 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing RAB38 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing RAB38 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with RAB38 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with RAB38 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of RAB38 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with RAB38 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with RAB38 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of RAB38 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by RAB38 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with RAB38 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with RAB38 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with RAB38 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with RAB38 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with RAB38 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at RAB38 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of RAB38 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of RAB38 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing RAB38 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with RAB38 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with RAB38 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of RAB38 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with RAB38 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing RAB38 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of RAB38 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of RAB38 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.