RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB3GAP2provided by HGNC
Official Full Name: RAB3 GTPase activating non-catalytic protein subunit 2provided by HGNC
Primary source: HGNC:HGNC:17168
See related: Ensembl:ENSG00000118873 MIM:609275; AllianceGenome:HGNC:17168
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p150; SPG69; MARTS1; WARBM2; RAB3GAP150; RAB3-GAP150
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 9.2), brain (RPKM 7.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q41

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (220148293..220272453, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (219387567..219511733, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (220321635..220445795, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
Title: Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
Title: The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.
Title: Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.
Mutation in RAB3GAP2 gene is associated with Warburg micro syndrome and Martsolf syndrome.
Title: Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
show that FOXC1 regulates the expression of RAB3GAP1, RAB3GAP2 and SNAP25
Title: FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.
RAB18 modulates macroautophagy and proteostasis, and is dependent on activity of RAB3GAP1 and RAB3GAP2.
Title: The RAB GTPase RAB18 modulates macroautophagy and proteostasis.
RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy
Title: RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy.
Rab18 and a Rab18 GEF complex of Rab3GAP1 and Rab3GAP2 have roles in the endoplasmic reticulum structure
Title: Rab18 and a Rab18 GEF complex are required for normal ER structure.
One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 in 5% of cases
Title: Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2. [Review]
Title: RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Martsolf syndrome 1 MedGen: C5542298 OMIM: 212720 GeneReviews: RAB18 Deficiency	Compare labs
Warburg micro syndrome 2 MedGen: C3280214 OMIM: 614225 GeneReviews: RAB18 Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3605 (e-PCR)
- UniSTS:21271

SHGC-76387 (e-PCR)
- UniSTS:82456

D1S3289 (e-PCR)
- UniSTS:12340

SHGC-76377 (e-PCR)
- UniSTS:52533

RH45736 (e-PCR)
- UniSTS:92727

SHGC-76378 (e-PCR)
- UniSTS:47170

AL009641 (e-PCR)
- UniSTS:11609

SHGC-111348 (e-PCR)
- UniSTS:168317

SHGC-24046 (e-PCR)
- UniSTS:43137

SHGC-31919 (e-PCR)
- UniSTS:25495

SHGC-23988 (e-PCR)
- UniSTS:25496

SHGC-53807 (e-PCR)
- UniSTS:64439

A005E47 (e-PCR)
- UniSTS:45249

RH69283 (e-PCR)
- UniSTS:60635

SHGC-76386 (e-PCR)
- UniSTS:52194

PMC116076P1 (e-PCR)
- UniSTS:270308

AL034046 (e-PCR)
- UniSTS:93937

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables enzyme activator activity	TAS Traceable Author Statement more info	PubMed
contributes_to enzyme regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme regulator activity	ISS Inferred from Sequence or Structural Similarity more info
contributes_to guanyl-nucleotide exchange factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in establishment of protein localization to endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of protein localization to endoplasmic reticulum membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	TAS Traceable Author Statement more info	PubMed
involved_in macroautophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endoplasmic reticulum tubular network organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein lipidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic signaling	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in autophagosome	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
is_active_in presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rab3 GTPase-activating protein non-catalytic subunit

Names: RAB3 GTPase activating protein subunit 2 (non-catalytic); RGAP-iso; rab3 GTPase-activating protein 150 kDa subunit; rab3-GAP p150; rab3-GAP regulatory subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.