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

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
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr4:152156955-152199857 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 82.86 cM
Mapping Data

1 experiment

SNPs within 2kb

208 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2652860	protein coding gene	Chr4:152156890-152199861 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029171	protein coding gene	Chr4:156186506-156215088 (+)
A/J	MGP_AJ_G0029136	protein coding gene	Chr4:149627247-149656197 (+)
AKR/J	MGP_AKRJ_G0029084	protein coding gene	Chr4:153702556-153730919 (+)
BALB/cJ	MGP_BALBcJ_G0029152	protein coding gene	Chr4:150108522-150138027 (+)
C3H/HeJ	MGP_C3HHeJ_G0028873	protein coding gene	Chr4:154268199-154299973 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029601	protein coding gene	Chr4:161781300-161809834 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026847	protein coding gene	Chr4:141989108-142018332 (+)
CAST/EiJ	MGP_CASTEiJ_G0028286	protein coding gene	Chr4:151594069-151642796 (+)
CBA/J	MGP_CBAJ_G0028835	protein coding gene	Chr4:166596486-166624961 (+)
DBA/2J	MGP_DBA2J_G0028984	protein coding gene	Chr4:149688726-149717429 (+)
FVB/NJ	MGP_FVBNJ_G0028948	protein coding gene	Chr4:148843280-148872329 (+)
LP/J	MGP_LPJ_G0029074	protein coding gene	Chr4:156102457-156130974 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028975	protein coding gene	Chr4:169636064-169665684 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029633	protein coding gene	Chr4:154246455-154276091 (+)
PWK/PhJ	MGP_PWKPhJ_G0028006	protein coding gene	Chr4:145742579-145788711 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027840	protein coding gene	Chr4:148526134-148557172 (+)
WSB/EiJ	MGP_WSBEiJ_G0028366	protein coding gene	Chr4:154411313-154441100 (+)

Human Ortholog

PLEKHG5, pleckstrin homology and RhoGEF domain containing G5

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PLEKHG5, pleckstrin homology and RhoGEF domain containing G5
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

Alliance of Genome Resources

Plekhg5 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PLEKHG5
Gene Tree

Plekhg5

Diseases

2 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
				distal spinal muscular atrophy type 4 IDs distal spinal muscular atrophy type 4 DOID:0111213 MESH:C567023 OMIM:611067 ORDO:206580 UMLS_CUI:C1970211

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
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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

57
Gene trapped

52
Targeted

5
Genomic Mutations

3 involving Plekhg5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

85 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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

23
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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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

684
Tissues

11
cDNA Data

8
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

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

74
RefSeq

21
UniProt

5
CCDS

CCDS18987.2, CCDS89862.1

Ensembl

ENSMUSG00000039713 (Evidence)
NCBI Gene

269608

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000039713	Ensembl Gene Model \| MGI Sequence Detail	42903	C57BL/6J	± kb

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UniProt

5 Sequences
Protein Ontology

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

(term hierarchy)
InterPro Domains

IPR000219 Dbl homology (DH) domain

IPR035899 Dbl homology (DH) domain superfamily

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR040181 Pleckstrin homology domain-containing family G member 5/7

IPR029071 Ubiquitin-like domain superfamily

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All nucleic 8

cDNA 8

Microarray probesets 3

Summaries

All 35

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 11
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:252982 Luningschror P, et al., Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease. Nat Commun. 2017 Oct 30;8(1):678

TSS for Plekhg5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr40493	Chr4:152160658-152160666 (+)	3,707 bp
Tssr40494	Chr4:152160713-152160722 (+)	3,763 bp
Tssr40495	Chr4:152171287-152171350 (+)	14,364 bp
Tssr40496	Chr4:152181155-152181173 (+)	24,209 bp
Tssr40497	Chr4:152181193-152181239 (+)	24,261 bp
Tssr40498	Chr4:152192176-152192218 (+)	35,242 bp
Tssr40499	Chr4:152192618-152192663 (+)	35,686 bp
Tssr40500	Chr4:152198284-152198310 (+)	41,342 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 & Copyright Notice Send questions and comments to User Support.	last database update 05/10/2022 MGI 6.19