Gene

plekhg5a

ID

ZDB-GENE-060503-766

Name

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

Symbol

plekhg5a Nomenclature History

Previous Names

plekhg5 (1)
si:ch211-15p9.7
syx-a (1)
syx (1)

Type

protein_coding_gene

Location

Chr: 11 Mapping Details/Browsers

Description

Predicted to have guanyl-nucleotide exchange factor activity. Involved in angiogenesis; blood vessel endothelial cell migration; and gastrulation. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate C and distal spinal muscular atrophy type 4. Is expressed in axial vasculature; dorsal aorta; and intersegmental vessel. Orthologous to human PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 8 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With plekhg5a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive distal hereditary motor neuronopathy 4	Alliance	Neuronopathy, distal hereditary motor, autosomal recessive 4	611067
Charcot-Marie-Tooth disease recessive intermediate C	Alliance	Charcot-Marie-Tooth disease, recessive intermediate C	615376

Associated With plekhg5a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000219	Dbl homology (DH) domain
Domain	IPR001849	Pleckstrin homology domain
Family	IPR040181	Pleckstrin homology domain-containing family G member 5/7
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR029071	Ubiquitin-like domain superfamily
Homologous_superfamily	IPR035899	Dbl homology (DH) domain superfamily

Domain Details Per Protein

Protein	Length	Dbl homology (DH) domain	Dbl homology (DH) domain superfamily	PH-like domain superfamily	Pleckstrin homology domain	Pleckstrin homology domain-containing family G member 5/7	Ubiquitin-like domain superfamily
UniProtKB:A0A8M9PVI0 InterPro	1146
UniProtKB:A0A8M9PAS1 InterPro	406
UniProtKB:A0A8M9PM84 InterPro	395
UniProtKB:A0A0R4ISX1 InterPro	1135
UniProtKB:A0A8M1QHY5 InterPro	860
UniProtKB:F1R1Q2 InterPro	1157
UniProtKB:A0A8M9PTC9 InterPro	384
UniProtKB:A0A2R8RLU7 InterPro	1057
UniProtKB:A0A8M9Q3T8 InterPro	306

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	plekhg5a-203 (1) Ensembl	Havana	434 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	plekhg5a-204 (1) Ensembl	Havana	4936 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	plekhg5a-003 (1) Ensembl	Havana	407 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations