Plekhg5 MGI Mouse Gene Detail - MGI:2652860 - pleckstrin homology domain containing, family G (with RhoGef domain) member 5

Plekhg5 Gene Detail

Symbol

Plekhg5
Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 5
Synonyms

mKIAA0720, Syx1, Syx2

Feature Type

protein coding gene
IDs

MGI:2652860
NCBI Gene: 269608
Gene Overview

MyGene.info: PLEKHG5

Sequence Map

Chr4:152072498-152115400 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

42903 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 82.86 cM
Mapping Data

1 experiment

Human Ortholog

PLEKHG5, pleckstrin homology and RhoGEF domain containing G5

Vertebrate Orthologs

10

Human Ortholog

PLEKHG5, pleckstrin homology and RhoGEF domain containing G5
Orthology source: HomoloGene, HGNC
Synonyms

CMTRIC, DSMA4, GEF720, Syx, Tech
Links

HGNC:29105

NCBI Gene ID: 57449

neXtProt AC: NX_O94827

UniProt: O94827
Chr Location

1p36.31; chr1:6466092-6520061 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 10768
1 human;1 mouse;1 rat;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: PLEKHG5
Gene Tree

Plekhg5

Diseases

1 with human PLEKHG5 associations

				Human Disease	Mouse Models
				Charcot-Marie-Tooth disease recessive intermediate C IDs Charcot-Marie-Tooth disease recessive intermediate C DOID:0110198 ICD10CM:G60.0 OMIM:615376 ORDO:369867

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

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Phenotype Summary

12 phenotypes from 2 alleles in 2 genetic backgrounds
9 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

77
Gene trapped

72
Targeted

5
Genomic Mutations

3 involving Plekhg5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

79 strains or lines available

Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact.

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All GO Annotations

16
GO References

6

External Resources

FuncBase

Molecular Function

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

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	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

12
Tissues

11
cDNA Data

7
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA PLEKHG5

Xenbase plekhg5

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Plekhg5 interacts with 147 markers (Mir17, Mir19a, Mir19b-1, ...) View All

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All Sequences

59
RefSeq

15
UniProt

3
CCDS

CCDS18987.2

			Length	Strain/Species	Flank
genomic	OTTMUSG00000010225	VEGA Gene Model \| MGI Sequence Detail	42903	C57BL/6J	± kb
transcript	OTTMUST00000023755	VEGA \| MGI Sequence Detail	3842	Not Applicable
polypeptide	OTTMUSP00000010873	VEGA \| MGI Sequence Detail	1073	Not Applicable

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SNPs within 2kb

211 from dbSNP Build 142

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UniProt

3 Sequences
Protein Ontology

PR:000012862 pleckstrin homology domain-containing family G member 5

(term hierarchy)
InterPro Domains

IPR000219 Dbl homology (DH) domain

IPR011993 PH domain-like

IPR001849 Pleckstrin homology domain

IPR029071 Ubiquitin-related domain

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All nucleic 9

cDNA 7

Other 2

Microarray probesets 3

Summaries

All 34

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 9
Earliest

J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
Latest

J:201081 Azzedine H, et al., PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet. 2013 Oct 15;22(20):4224-32

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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