ERVV-2

endogenous retrovirus group V member 2, envelope, the group of Envelope ERV derived genes

Basic information

Region (hg38): 19:53044740-53051680

Links

ENSG00000268964 ∙ NCBI:100271846 ∙ ∙ HGNC:39051 ∙ Uniprot:B6SEH9 ∙ 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 ERVV-2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERVV-2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			37	1		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	1	0

Variants in ERVV-2

This is a list of pathogenic ClinVar variants found in the ERVV-2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-53049260-G-T		not specified	Uncertain significance (Jul 19, 2023)
19-53049333-C-A		not specified	Uncertain significance (Oct 22, 2021)
19-53049334-T-C		not specified	Uncertain significance (Oct 22, 2021)
19-53049361-C-T			Likely benign (Nov 01, 2024)
19-53049368-C-A		not specified	Uncertain significance (Aug 21, 2023)
19-53049544-G-T		not specified	Uncertain significance (Aug 13, 2021)
19-53049570-C-G		not specified	Uncertain significance (Sep 15, 2021)
19-53049604-G-T		not specified	Uncertain significance (Jan 10, 2022)
19-53049702-A-G		not specified	Uncertain significance (Oct 03, 2023)
19-53049772-A-G		not specified	Uncertain significance (Dec 10, 2024)
19-53049836-G-C		not specified	Uncertain significance (Sep 02, 2024)
19-53049962-C-A		not specified	Uncertain significance (Jan 02, 2024)
19-53050002-C-G		not specified	Uncertain significance (Jul 06, 2022)
19-53050034-A-T		not specified	Uncertain significance (Jan 26, 2022)
19-53050035-A-C		not specified	Uncertain significance (Aug 28, 2021)
19-53050042-A-C		not specified	Uncertain significance (Jan 26, 2022)
19-53050045-T-G		not specified	Uncertain significance (Jun 23, 2021)
19-53050086-C-G		not specified	Likely benign (Sep 16, 2021)
19-53050129-C-T		not specified	Uncertain significance (Dec 02, 2022)
19-53050162-G-A		not specified	Uncertain significance (Dec 19, 2022)
19-53050203-C-G		not specified	Uncertain significance (Feb 06, 2023)
19-53050221-C-A		not specified	Uncertain significance (Oct 12, 2022)
19-53050260-G-A		not specified	Uncertain significance (Feb 28, 2023)
19-53050264-C-T		not specified	Uncertain significance (Aug 16, 2022)
19-53050290-G-A		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERVV-2	protein_coding	protein_coding	ENST00000601417	1	6339

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.668	188	216	0.872	0.0000105	3461
Missense in Polyphen		52	72.216	0.72007		1103
Synonymous	0.983	71	82.4	0.862	0.00000419	1074
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.395

Essentials

• essential_gene_CRISPR: N

Gene Damage Prediction

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

Gene ontology

• Cellular component: integral component of membrane