Prex2 MGI Mouse Gene Detail - MGI:1923385 - phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2

Symbol

Prex2
Name

phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
Synonyms

6230420N16Rik, C030045D06Rik, Depdc2

Feature Type

protein coding gene
IDs

MGI:1923385
NCBI Gene: 109294
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr1:11063689-11373905 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 2.57 cM, cytoband A3
Mapping Data

3 experiments

SNPs within 2kb

3323 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923385	protein coding gene	Chr1:11063496-11373907 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0015836	protein coding gene	Chr1:8300216-8606124 (+)
A/J	MGP_AJ_G0015818	protein coding gene	Chr1:8324897-8630995 (+)
AKR/J	MGP_AKRJ_G0015777	protein coding gene	Chr1:8209921-8523150 (+)
BALB/cJ	MGP_BALBcJ_G0015774	protein coding gene	Chr1:8045573-8361103 (+)
C3H/HeJ	MGP_C3HHeJ_G0015608	protein coding gene	Chr1:8131112-8447977 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016228	protein coding gene	Chr1:8659664-8981505 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0013949	protein coding gene	Chr1:7082427-7385938 (+)
CAST/EiJ	MGP_CASTEiJ_G0015188	protein coding gene	Chr1:8316860-8653838 (+)
CBA/J	MGP_CBAJ_G0015581	protein coding gene	Chr1:8858669-9194961 (+)
DBA/2J	MGP_DBA2J_G0015680	protein coding gene	Chr1:7923097-8237911 (+)
FVB/NJ	MGP_FVBNJ_G0015685	protein coding gene	Chr1:7807951-8110733 (+)
LP/J	MGP_LPJ_G0015752	protein coding gene	Chr1:8501052-8820481 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015704	protein coding gene	Chr1:9477294-9812576 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016275	protein coding gene	Chr1:8113025-8420013 (+)
PWK/PhJ	MGP_PWKPhJ_G0014972	protein coding gene	Chr1:7765744-8080081 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014752	protein coding gene	Chr1:8276489-8590535 (+)
WSB/EiJ	MGP_WSBEiJ_G0015252	protein coding gene	Chr1:8121843-8440238 (+)

Human Ortholog

PREX2, phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PREX2, phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
Synonyms

DEP.2, DEPDC2, PPP1R129, P-REX2
Links

HGNC:22950

NCBI Gene ID: 80243

neXtProt AC: NX_Q70Z35

UniProt: Q70Z35
Chr Location

8q13.2; chr8:67952046-68237032 (+) GRCh38

MGI Vertebrate Homology

Prex2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PREX2
Gene Tree

Prex2

Diseases

2 with human PREX2 associations

				Human Disease	Mouse Models
				cholangiocarcinoma IDs cholangiocarcinoma DOID:4947 DOID:5249 ICD10CM:C22.1 MESH:D018281 NCI:C4436 NCI:C8265 UMLS_CUI:C0206698 UMLS_CUI:C0280725
				Klatskin's tumor IDs Klatskin's tumor DOID:4927 MESH:D018285 NCI:C36077 UMLS_CUI:C0206702

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

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Phenotype Summary

11 phenotypes from 3 alleles in 4 genetic backgrounds
8 phenotypes from multigenic genotypes
3 images
14 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

13
Endonuclease-mediated

4
Gene trapped

7
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

114 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for gene trapped alleles may exhibit abnormal Purkinje cell dendrite morphology, a mild motor coordination defect that progressively worsens with age, hypoactivity, impaired glucose tolerance and/or insulin resistance.

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All GO Annotations

13
GO References

4

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

731
Tissues

9
cDNA Data

32
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase prex2

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All Sequences

70
RefSeq

12
UniProt

7
CCDS

CCDS48217.1

Ensembl

ENSMUSG00000048960 (Evidence)
NCBI Gene

109294

			Length	Strain/Species	Flank
genomic	ENSMUSG00000048960	Ensembl Gene Model \| MGI Sequence Detail	310217	C57BL/6J	± kb
transcript	ENSMUST00000027056	Ensembl \| MGI Sequence Detail	11053	Not Applicable
polypeptide	ENSMUSP00000027056	Ensembl \| MGI Sequence Detail	1598	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000013203 phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein

(term hierarchy)
InterPro Domains

IPR000219 Dbl homology (DH) domain

IPR035899 Dbl homology (DH) domain superfamily

IPR000591 DEP domain

IPR001331 Guanine-nucleotide dissociation stimulator, CDC24, conserved site

IPR001478 PDZ domain

IPR041489 PDZ domain 6

IPR036034 PDZ superfamily

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR037367 PREX2, DEP domain 1

IPR036390 Winged helix DNA-binding domain superfamily

IPR036388 Winged helix-like DNA-binding domain superfamily

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All nucleic 33

Genomic 1

cDNA 32

Microarray probesets 4

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MGI:1924907, MGI:2138203, MGI:2138289

Summaries

All 45

Developmental Gene Expression 2

Gene Ontology 4

Phenotypes 14
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:320230 Lissanu Deribe Y, Interplay between PREX2 mutations and the PI3K pathway and its effect on epigenetic regulation of gene expression in NRAS-mutant melanoma. Small GTPases. 2016 Jul 2;7(3):178-85

TSS for Prex2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr5933	Chr1:11063531-11063555 (+)	-146 bp
Tssr5934	Chr1:11063589-11063599 (+)	-95 bp
Tssr5935	Chr1:11063676-11063702 (+)	0 bp
Tssr5936	Chr1:11063706-11063844 (+)	86 bp
Tssr5937	Chr1:11068923-11068931 (+)	5,238 bp
Tssr5938	Chr1:11074747-11074749 (+)	11,059 bp
Tssr5939	Chr1:11159881-11159893 (+)	96,198 bp
Tssr5940	Chr1:11159962-11159977 (+)	96,281 bp
Tssr5941	Chr1:11159981-11159987 (+)	96,295 bp
Tssr5942	Chr1:11159992-11159998 (+)	96,306 bp
Tssr5943	Chr1:11255478-11255482 (+)	191,791 bp
Tssr5944	Chr1:11369676-11369706 (+)	306,002 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)
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