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. Is expressed in axial vasculature; dorsal aorta; and intersegmental vessel. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate C and distal spinal muscular atrophy type 4. 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
Charcot-Marie-Tooth disease recessive intermediate C	Alliance	Charcot-Marie-Tooth disease, recessive intermediate C	615376
distal spinal muscular atrophy type 4	Alliance	Spinal muscular atrophy, distal, autosomal recessive, 4	611067

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:A0A2R8QB15 InterPro	1105
UniProtKB:F1R1Q2 InterPro	1157
UniProtKB:A0A0R4IVN0 InterPro	91
UniProtKB:A0A2R8RLU7 InterPro	1057
UniProtKB:A0A0R4ISX1 InterPro	1135

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

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