Plekhg5
Gene Detail

Symbol Name ID

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

Synonyms

mKIAA0720, Syx1, Syx2

Feature Type

protein coding gene

Genetic Map

Chromosome 4

82.86 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr4:152072498-152115400 bp, + strand From VEGA annotation of GRCm38   42903 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:10768  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Gene Tree: Plekhg5

Human homologs

Human Homolog		PLEKHG5, pleckstrin homology domain containing, family G (with RhoGef domain) member 5
NCBI Gene ID		57449
neXtProt AC		NX_O94827
Human Synonyms		CMTRIC, DSMA4, GEF720, Syx, Tech
Human Chr (Location)		1p36.31; chr1:6466092-6520061 (-)  GRCh38
Disease Associations		(2) Diseases Associated with Human PLEKHG5

Alleles and phenotypes

All alleles(74) : Gene trapped(72) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	endothelial cell chemotaxis, endothelial cell migration, ...
Component	cell-cell junction, cell junction, ...
Function	protein binding, Rho guanyl-nucleotide exchange factor activity, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)

Data Summary: Results (12)    Tissues (11)    Images (1)
Theiler Stages: 20, 21, 25, 28

Assay Type	Results
Immunohistochemistry	6
Northern blot	6

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(9) cDNA(7) Other(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000010225 (Evidence)
Ensembl Gene Model	ENSMUSG00000039713 (Evidence)
Entrez Gene	269608 (Evidence)
DFCI	TC1578941, TC1596224, TC1643125
DoTS	DT.101268553, DT.101725549, DT.110817714, DT.488674
NIA Mouse Gene Index	U042601
Consensus CDS Project	CCDS18987.2
International Mouse Knockout Project Status	Plekhg5

Sequences

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

All sequences(68) RefSeq(17) UniProt(2)

Polymorphisms

SNPs within 2kb(211 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR000219	Dbl homology (DH) domain
InterPro	IPR001849	Pleckstrin homology domain
InterPro	IPR011993	Pleckstrin homology-like domain
Protein Ontology	PR:000012862	pleckstrin homology domain-containing family G member 5

References

(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
All references(36)