Plekhm2 MGI Mouse Gene Detail - MGI:1916832 - pleckstrin homology domain containing, family M (with RUN domain) member 2

Symbol

Plekhm2
Name

pleckstrin homology domain containing, family M (with RUN domain) member 2
Synonyms

2310034J19Rik

Feature Type

protein coding gene
IDs

MGI:1916832
NCBI Gene: 69582
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr4:141353043-141391457 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 74.64 cM
Mapping Data

2 experiments

SNPs within 2kb

417 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916832	protein coding gene	Chr4:141353043-141392210 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0029053	protein coding gene	Chr4:144708791-144751046 (-)
A/J	MGP_AJ_G0029013	protein coding gene	Chr4:138400669-138441422 (-)
AKR/J	MGP_AKRJ_G0028965	protein coding gene	Chr4:142422115-142463873 (-)
BALB/cJ	MGP_BALBcJ_G0029037	protein coding gene	Chr4:139095571-139137363 (-)
C3H/HeJ	MGP_C3HHeJ_G0028751	protein coding gene	Chr4:142787277-142828132 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0029478	protein coding gene	Chr4:149743506-149792316 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026749	protein coding gene	Chr4:131313108-131354427 (-)
CAST/EiJ	MGP_CASTEiJ_G0028183	protein coding gene	Chr4:141060068-141099818 (-)
CBA/J	MGP_CBAJ_G0028715	protein coding gene	Chr4:154147583-154197765 (-)
DBA/2J	MGP_DBA2J_G0028865	protein coding gene	Chr4:138797886-138837919 (-)
FVB/NJ	MGP_FVBNJ_G0028832	protein coding gene	Chr4:137916936-137958473 (-)
LP/J	MGP_LPJ_G0028964	protein coding gene	Chr4:144730643-144771686 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028858	protein coding gene	Chr4:157902430-157945081 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029516	protein coding gene	Chr4:142938823-142981495 (-)
PWK/PhJ	MGP_PWKPhJ_G0027904	protein coding gene	Chr4:135689242-135729431 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0027728	protein coding gene	Chr4:138747521-138789371 (-)
WSB/EiJ	MGP_WSBEiJ_G0028261	protein coding gene	Chr4:143215635-143254315 (-)

Human Ortholog

PLEKHM2, pleckstrin homology and RUN domain containing M2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PLEKHM2, pleckstrin homology and RUN domain containing M2
Synonyms

SKIP
Links

HGNC:29131

NCBI Gene ID: 23207

neXtProt AC: NX_Q8IWE5

UniProt: Q8IWE5
Chr Location

1p36.21; chr1:15681506-15734769 (+) GRCh38

MGI Vertebrate Homology

Plekhm2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PLEKHM2
Gene Tree

Plekhm2

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Phenotype Summary

7 phenotypes from 1 allele in 2 genetic backgrounds
11 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

7
Chemically induced (other)

2
Gene trapped

1
Targeted

4
Genomic Mutations

3 involving Plekhm2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

48 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit increased leukocyte numbers and decreased susceptibility to Salmonella infection.

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All GO Annotations

20
GO References

3

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

706
cDNA Data

53
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase plekhm2

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All Sequences

63
RefSeq

7
UniProt

3
CCDS

CCDS51348.1, CCDS84816.1

Ensembl

ENSMUSG00000028917 (Evidence)
NCBI Gene

69582

			Length	Strain/Species	Flank
genomic	69582	NCBI Gene Model \| MGI Sequence Detail	38415	C57BL/6J	± kb
transcript	NM_001033150	RefSeq \| MGI Sequence Detail	4163	C57BL/6
polypeptide	Q80TQ5	UniProt \| EBI \| MGI Sequence Detail	1018	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000031600 pleckstrin homology domain-containing family M member 2

(term hierarchy)
InterPro Domains

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR047327 PLEKHM2, RUN domain

IPR004012 RUN domain

IPR037213 RUN domain superfamily

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All nucleic 53

cDNA 53

Microarray probesets 4

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MGI:2140397

Summaries

All 35

Developmental Gene Expression 1

Gene Ontology 3

Phenotypes 11
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:344234 Zou W, et al., Lysosomal dynamics regulate mammalian cortical neurogenesis. Dev Cell. 2024 Jan 8;59(1):64-78.e5

TSS for Plekhm2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr44356	Chr4:141391374-141391481 (-)	29 bp
Tssr44355	Chr4:141391310-141391332 (-)	136 bp
Tssr44354	Chr4:141379766-141379790 (-)	11,679 bp
Tssr44353	Chr4:141379683-141379724 (-)	11,753 bp
Tssr44352	Chr4:141372275-141372280 (-)	19,179 bp
Tssr44351	Chr4:141370134-141370145 (-)	21,317 bp
Tssr44350	Chr4:141369479-141369512 (-)	21,961 bp
Tssr44349	Chr4:141369441-141369458 (-)	22,007 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