Rab3gap2 MGI Mouse Gene Detail - MGI:1916043 - RAB3 GTPase activating protein subunit 2

Symbol

Rab3gap2
Name

RAB3 GTPase activating protein subunit 2
Synonyms

1110059F07Rik, mKIAA0839

Feature Type

protein coding gene
IDs

MGI:1916043
NCBI Gene: 98732
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr1:184936314-185018956 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 89.45 cM
Mapping Data

2 experiments

SNPs within 2kb

993 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916043	protein coding gene	Chr1:184936287-185018956 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016913	protein coding gene	Chr1:191917186-192005873 (+)
A/J	MGP_AJ_G0016892	protein coding gene	Chr1:184076207-184162392 (+)
AKR/J	MGP_AKRJ_G0016857	protein coding gene	Chr1:189499207-189581626 (+)
BALB/cJ	MGP_BALBcJ_G0016850	protein coding gene	Chr1:184715958-184793325 (+)
C3H/HeJ	MGP_C3HHeJ_G0016674	protein coding gene	Chr1:190358450-190452537 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017313	protein coding gene	Chr1:198045312-198141889 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015020	protein coding gene	Chr1:175067974-175146182 (+)
CAST/EiJ	MGP_CASTEiJ_G0016257	protein coding gene	Chr1:189788810-189880706 (+)
CBA/J	MGP_CBAJ_G0016648	protein coding gene	Chr1:205423655-205533757 (+)
DBA/2J	MGP_DBA2J_G0016754	protein coding gene	Chr1:182838639-182923982 (+)
FVB/NJ	MGP_FVBNJ_G0016750	protein coding gene	Chr1:180933243-181019361 (+)
LP/J	MGP_LPJ_G0016829	protein coding gene	Chr1:193072133-193162330 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016782	protein coding gene	Chr1:212317217-212409847 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017350	protein coding gene	Chr1:189378009-189461435 (+)
PWK/PhJ	MGP_PWKPhJ_G0016044	protein coding gene	Chr1:182040641-182127906 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015820	protein coding gene	Chr1:188331073-188416734 (+)
WSB/EiJ	MGP_WSBEiJ_G0016319	protein coding gene	Chr1:189541276-189628554 (+)

Human Ortholog

RAB3GAP2, RAB3 GTPase activating non-catalytic protein subunit 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RAB3GAP2, RAB3 GTPase activating non-catalytic protein subunit 2
Synonyms

MARTS1, p150, RAB3GAP150, RAB3-GAP150, SPG69, WARBM2
Links

HGNC:17168

NCBI Gene ID: 25782

neXtProt AC: NX_Q9H2M9

UniProt: Q9H2M9
Chr Location

1q41; chr1:220148293-220272529 (-) GRCh38

MGI Vertebrate Homology

Rab3gap2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RAB3GAP2
Gene Tree

Rab3gap2

Diseases

2 with human RAB3GAP2 associations

				Human Disease	Mouse Models
				Martsolf syndrome IDs Martsolf syndrome DOID:0111586 MESH:C536028 OMIM:212720 ORDO:1387 UMLS_CUI:C0796037
				Warburg micro syndrome 2 IDs Warburg micro syndrome 2 DOID:0110717 ICD10CM:Q87.0 OMIM:614225

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
10 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

31
Gene trapped

29
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

88 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

16
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

719
Tissues

13
cDNA Data

13
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rab3gap2

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All Sequences

61
RefSeq

6
UniProt

6
CCDS

CCDS48478.1

Ensembl

ENSMUSG00000039318 (Evidence)
NCBI Gene

98732

			Length	Strain/Species	Flank
genomic	ENSMUSG00000039318	Ensembl Gene Model \| MGI Sequence Detail	82643	C57BL/6J	± kb
transcript	ENSMUST00000069652	Ensembl \| MGI Sequence Detail	7052	Not Applicable
polypeptide	ENSMUSP00000066325	Ensembl \| MGI Sequence Detail	1387	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000013622 Rab3 GTPase-activating protein non-catalytic subunit

(term hierarchy)
InterPro Domains

IPR026059 Rab3GAP regulatory subunit

IPR029257 Rab3GAP regulatory subunit, C-terminal

IPR032839 Rab3-GAP regulatory subunit, N-terminal

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All nucleic 13

cDNA 13

Microarray probesets 3

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MGI:2138353, MGI:2138627

Summaries

All 37

Developmental Gene Expression 1

Gene Ontology 6

Phenotypes 10
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9

TSS for Rab3gap2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr10591	Chr1:184936306-184936360 (+)	19 bp
Tssr10592	Chr1:184936362-184936380 (+)	57 bp
Tssr10593	Chr1:184936429-184936440 (+)	121 bp
Tssr10594	Chr1:184938125-184938134 (+)	1,816 bp
Tssr10595	Chr1:184942903-184942929 (+)	6,602 bp
Tssr10596	Chr1:184980153-184980185 (+)	43,855 bp
Tssr10597	Chr1:184984918-184984953 (+)	48,622 bp
Tssr10598	Chr1:185003183-185003203 (+)	66,879 bp
Tssr10599	Chr1:185015254-185015267 (+)	78,947 bp
Tssr363	Chr1:185015322-185015349 (+)	79,022 bp
Tssr364	Chr1:185015488-185015490 (+)	79,175 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23