RAB3GAP2 Gene

Name	RAB3 GTPase activating protein subunit 2 (non-catalytic)
Description	The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRAB3GAP2 is an essential component of the heterodimeric Rab3GAP complex that, together with RAB3GAP1, functions as a guanine nucleotide exchange factor (GEF) for Rab18. Through this role, the complex promotes the membrane recruitment and activation of Rab18 at the endoplasmic reticulum, which is critical for maintaining ER architecture and proper vesicular trafficking. Disruption of RAB3GAP2 activity—whether by complete loss‐of‐function or hypomorphic mutations—has been directly linked to a continuum of neurodevelopmental disorders, including Warburg Micro syndrome and Martsolf syndrome, characterized by ocular, neurological, and endocrine abnormalities. These studies collectively emphasize that the extent of RAB3GAP2 functional loss correlates with phenotypic severity, highlighting its pivotal roles in synaptic vesicle exocytosis and neurodevelopment."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its well‐established role in vesicular and synaptic trafficking, RAB3GAP2 has emerged as a critical modulator of autophagy and cellular proteostasis. The Rab3GAP complex not only influences autophagosomal biogenesis and maturation (possibly via interactions with the Vps34/PI3K Complex I) but also integrates exocytotic and endocytotic processes; indeed, altered regulation of RAB3GAP2—such as through FOXC1‐dependent transcriptional control—can affect the secretion of key proteins associated with glaucoma pathogenesis. Together, these findings indicate that RAB3GAP2 operates at a vital nexus where membrane trafficking, autophagy, and cellular homeostasis converge."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ee Ling Ng, Bor Luen Tang "}, {"type": "b", "children": [{"type": "t", "text": "Rab GTPases and their roles in brain neurons and glia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Res Rev (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.brainresrev.2008.04.006"}], "href": "https://doi.org/10.1016/j.brainresrev.2008.04.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18485483"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18485483"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Shinsuke Niwa, Yosuke Tanaka, Nobutaka Hirokawa "}, {"type": "b", "children": [{"type": "t", "text": "KIF1Bbeta- and KIF1A-mediated axonal transport of presynaptic regulator Rab3 occurs in a GTP-dependent manner through DENN/MADD."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncb1785"}], "href": "https://doi.org/10.1038/ncb1785"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18849981"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18849981"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Guntram Borck, Heidrun Wunram, Angela Steiert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-010-0896-2"}], "href": "https://doi.org/10.1007/s00439-010-0896-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20967465"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20967465"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mark T Handley, Irene A Aligianis "}, {"type": "b", "children": [{"type": "t", "text": "RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Soc Trans (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BST20120169"}], "href": "https://doi.org/10.1042/BST20120169"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23176487"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23176487"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Mark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22296"}], "href": "https://doi.org/10.1002/humu.22296"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23420520"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23420520"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Andreas Gerondopoulos, Ricardo Nunes Bastos, Shin-Ichiro Yoshimura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rab18 and a Rab18 GEF complex are required for normal ER structure."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201403026"}], "href": "https://doi.org/10.1083/jcb.201403026"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24891604"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24891604"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Evren Gumus "}, {"type": "b", "children": [{"type": "t", "text": "Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmic Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/13816810.2018.1432065"}], "href": "https://doi.org/10.1080/13816810.2018.1432065"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29419336"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29419336"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Wanxue Xu, Lacey Plummer, Richard Quinton, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hypogonadotropic hypogonadism due to variants in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "RAB3GAP2"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": ": expanding the phenotypic and genotypic spectrum of Martsolf syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cold Spring Harb Mol Case Stud (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/mcs.a005033"}], "href": "https://doi.org/10.1101/mcs.a005033"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32376645"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32376645"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Mohamed S Abdel-Hamid, Sherif F Abdel-Ghafar, Suzan R Ismail, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.13825"}], "href": "https://doi.org/10.1111/cge.13825"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32740904"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32740904"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Natalie Spang, Anne Feldmann, Heike Huesmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Autophagy (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/15548627.2014.994359"}], "href": "https://doi.org/10.4161/15548627.2014.994359"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25495476"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25495476"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Anne Feldmann, Fazilet Bekbulat, Heike Huesmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The RAB GTPase RAB18 modulates macroautophagy and proteostasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2017.03.112"}], "href": "https://doi.org/10.1016/j.bbrc.2017.03.112"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28342870"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28342870"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Alexandra Rasnitsyn, Lance Doucette, Morteza Seifi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0178518"}], "href": "https://doi.org/10.1371/journal.pone.0178518"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28575017"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28575017"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Szabolcs Takáts, Luca Lévay, Attila Boda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS J (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/febs.15313"}], "href": "https://doi.org/10.1111/febs.15313"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32248620"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32248620"}]}]}]}
Synonyms	RAB3GAP150, WARBM2, RAB3-GAP150, SPG69
Proteins	RBGPR_HUMAN
NCBI Gene ID	25782
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

RAB3GAP2 has 7,551 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 122 datasets.

Click the + buttons to view associations for RAB3GAP2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

RAB3GAP2 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 RAB3GAP2 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 RAB3GAP2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of RAB3GAP2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of RAB3GAP2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of RAB3GAP2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of RAB3GAP2 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 RAB3GAP2 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 RAB3GAP2 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 RAB3GAP2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of RAB3GAP2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of RAB3GAP2 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 RAB3GAP2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with RAB3GAP2 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with RAB3GAP2 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 RAB3GAP2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of RAB3GAP2 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 RAB3GAP2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with RAB3GAP2 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with RAB3GAP2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of RAB3GAP2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing RAB3GAP2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing RAB3GAP2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing RAB3GAP2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing RAB3GAP2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with RAB3GAP2 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 RAB3GAP2 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 RAB3GAP2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with RAB3GAP2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with RAB3GAP2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with RAB3GAP2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with RAB3GAP2 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by RAB3GAP2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving RAB3GAP2 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving RAB3GAP2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with RAB3GAP2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with RAB3GAP2 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 RAB3GAP2 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 RAB3GAP2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with RAB3GAP2 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 RAB3GAP2 gene from the ENCODE Histone Modification Site Profiles dataset.