Rab3gap2 RAB3 GTPase activating protein subunit 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rab3gap2provided by MGI
Official Full Name: RAB3 GTPase activating protein subunit 2provided by MGI
Primary source: MGI:MGI:1916043
See related: Ensembl:ENSMUSG00000039318 AllianceGenome:MGI:1916043
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA0839; 5830469C09; RAB3-GAP150; 1110059F07Rik; 2010002H18Rik
Summary: Predicted to enable small GTPase binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including establishment of protein localization to endoplasmic reticulum membrane; positive regulation of organelle organization; and positive regulation of protein lipidation. Predicted to be located in cytosol. Predicted to be part of protein-containing complex. Predicted to be active in autophagosome and presynaptic membrane. Is expressed in alimentary system; genitourinary system; skin; and vascular system. Human ortholog(s) of this gene implicated in Martsolf syndrome and Warburg micro syndrome 2. Orthologous to human RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 9.3), cortex adult (RPKM 8.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H5; 1 89.45 cM

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (184936287..185018953)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (185204088..185286756)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI851069 (e-PCR)
- UniSTS:165128

D1Mit221 (e-PCR), detects polymorphism
- UniSTS:116264

RH126614 (e-PCR)
- UniSTS:207265

BB142194 (e-PCR)
- UniSTS:207267

BB345325 (e-PCR)
- UniSTS:207268

AW743433 (e-PCR)
- UniSTS:207270

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
contributes_to enzyme regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme regulator activity	ISO Inferred from Sequence Orthology more info
enables enzyme regulator activity	ISS Inferred from Sequence or Structural Similarity more info
contributes_to guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info

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	ISO Inferred from Sequence Orthology more info
involved_in macroautophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of autophagosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endoplasmic reticulum tubular network organization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein lipidation	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: Rab3 GTPase-activating protein 150 kDa subunit; Rab3-GAP regulatory subunit; rab3-GAP p150

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.

mRNA and Protein(s)

NM_001163754.2 → NP_001157226.1 rab3 GTPase-activating protein non-catalytic subunit

Status: VALIDATED

Source sequence(s)

AC129195, AC131084, AC158963

Consensus CDS

CCDS48478.1

UniProtKB/Swiss-Prot

Q6PEU0, Q80TQ6, Q8BMG7, Q8BX72

UniProtKB/TrEMBL

E9QKE4

Related

ENSMUSP00000066325.7, ENSMUST00000069652.8

Conserved Domains (2) summary

pfam14655
Location:73 → 497

RAB3GAP2_N; Rab3 GTPase-activating protein regulatory subunit N-terminus

pfam14656
Location:779 → 1365

RAB3GAP2_C; Rab3 GTPase-activating protein regulatory subunit C-terminus

RNA

NR_175935.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC129195, AC131084, AC158963

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

184936287..185018953

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497216.5 → XP_006497279.1 rab3 GTPase-activating protein non-catalytic subunit isoform X1

UniProtKB/Swiss-Prot

Q6PEU0, Q80TQ6, Q8BMG7, Q8BX72

UniProtKB/TrEMBL

A0A0A6YWM5

Related

ENSMUSP00000141608.2, ENSMUST00000194740.6

Conserved Domains (2) summary

pfam14655
Location:73 → 497

RAB3GAP2_N; Rab3 GTPase-activating protein regulatory subunit N-terminus

pfam14656
Location:779 → 1345

RAB3GAP2_C; Rab3 GTPase-activating protein regulatory subunit C-terminus

RNA

XR_004935356.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_172649.1: Suppressed sequence

Description

NM_172649.1: This RefSeq was suppressed temporarily based on the calculation that the encoded protein was shorter than proteins from the putative ortholog from human: RAB3GAP2 (GeneID:25782).