RHOJ

protein-coding

ras homolog family member J, the group of Rho family GTPases

Gene summary

This gene encodes one of the many small GTP-binding proteins in the Rho family shown to be associated with focal adhesions in endothelial cells (PMID: 21148427, 22103495). The encoded protein is activated by vascular endothelial growth factor and may regulate angiogenesis. [provided by RefSeq, Dec 2011]

Previous symbols:

RASL7B
ARHJ

MANE transcript

NM_020663.5

Inheritance

—

ClinVar variants

U:25B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.48

Max pathogenic AF

—

Genomic locus

chr14:63,204,114-63,293,508

External References & Databases

Ensembl (ENSG00000126785)

Transcript & Mutation Effects

hg38 • Region Span ~89.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RHOJ variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 27

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020663.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			25 clinvar	2 clinvar		27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	25	3	0	28

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020663.5	RefSeq	NP_065714.1	5	MANE Select
ENST00000316754.8	Ensembl	ENSP00000316729.3	5	MANE Select
ENST00000555125.1	Ensembl	ENSP00000451643.1	4	Standard
ENST00000557447.5	Ensembl	ENSP00000451796.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

VEGFA-VEGFR2 Signaling Pathway
Insulin Signaling
Signal Transduction
Rho GTPase cycle
Signaling by Rho GTPases

Biological Process

angiogenesis
endocytosis
actin filament organization
establishment or maintenance of cell polarity
Rho protein signal transduction

Molecular Function

GTPase activity
protein binding
GTP binding
protein kinase binding

Cellular Component

cytoplasm
cytosol
plasma membrane
cell cortex
cell projection

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000316754
Coding exons: 5
Length: 89106
Individuals with no LoFs: 125724
Homozygous LoFs: 0
Heterozygous LoFs: 24
Defined: 125748
p: 0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.484	115	131	0.881	0.00000757	1407
Missense (PolyPhen)		46	55.921	0.82259		594
Synonymous	0.781	45	52.2	0.863	0.00000347	396
Loss of Function	1.53	5	10.3	0.485	4.35e-7	126

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.00028	0.00028	rare
European (Non-Finnish)	0.00012	0.00011	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: GTP-binding protein with GTPase activity. Elicits the formation of F-actin-rich structures in fibroblasts and is involved in the regulation of cell morphology (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.358

Intolerance Scores

LoFtool: 0.657
RVIS EVS: -0.18
RVIS percentile EVS: 39.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.935

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium