ENOX2

ecto-NOX disulfide-thiol exchanger 2, the group of RNA binding motif containing

Basic information

Region (hg38): X:130622325-130903234

Previous symbols: [ "COVA1" ]

Links

ENSG00000165675 ∙ NCBI:10495 ∙ OMIM:300282 ∙ HGNC:2259 ∙ Uniprot:Q16206 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ENOX2 gene.

• not_specified (47 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENOX2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006375.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			45			45
nonsense						0
start loss			1			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENOX2	protein_coding	protein_coding	ENST00000338144	13	279859

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000153	0.963	125712	17	17	125746	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.828	207	243	0.851	0.0000193	4056
Missense in Polyphen		79	106.03	0.7451		1599
Synonymous	-0.441	86	81.0	1.06	0.00000629	1099
Loss of Function	1.96	13	23.2	0.561	0.00000174	395

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000154	0.000154
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000629	0.0000462
European (Non-Finnish)	0.0000503	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00135	0.000817
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in cell growth. Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide- thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 22 minutes and play a role in control of the ultradian cellular biological clock. {ECO:0000269|PubMed:12356293, ECO:0000269|PubMed:9932650}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.143
• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.37

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.492
• ghis: 0.656

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.698

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Enox2
• Phenotype: normal phenotype

Gene ontology

• Biological process: ultradian rhythm;regulation of growth;oxidation-reduction process
• Cellular component: extracellular space;cytosol;external side of plasma membrane
• Molecular function: nucleic acid binding;protein disulfide oxidoreductase activity