OSGIN2

oxidative stress induced growth inhibitor family member 2

Basic information

Region (hg38): 8:89901848-89927888

Previous symbols: [ "C8orf1" ]

Links

ENSG00000164823 ∙ NCBI:734 ∙ OMIM:604598 ∙ HGNC:1355 ∙ Uniprot:Q9Y236 ∙ 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 OSGIN2 gene.

• Inborn genetic diseases (17 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSGIN2 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				2	1	3
missense			16	1	1	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	3	2

Variants in OSGIN2

This is a list of pathogenic ClinVar variants found in the OSGIN2 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-89902800-G-C		not specified	Uncertain significance (Dec 19, 2022)
8-89909579-C-T			Likely benign (Apr 01, 2023)
8-89914127-C-T		not specified	Uncertain significance (Feb 05, 2024)
8-89914707-C-T			Benign (Jul 16, 2018)
8-89924544-G-A		not specified	Uncertain significance (Jan 08, 2024)
8-89924615-G-A		not specified	Uncertain significance (Apr 25, 2022)
8-89924665-T-A		not specified	Uncertain significance (Nov 10, 2022)
8-89924701-C-A		not specified	Likely benign (Jan 26, 2023)
8-89924708-A-C		not specified	Uncertain significance (Jan 26, 2023)
8-89924709-A-G		not specified	Uncertain significance (Oct 25, 2023)
8-89924710-G-C		not specified	Uncertain significance (Aug 23, 2021)
8-89924739-G-A		not specified	Uncertain significance (Nov 17, 2023)
8-89924836-A-C		not specified	Uncertain significance (Dec 19, 2022)
8-89924867-A-G		not specified	Uncertain significance (Aug 13, 2021)
8-89924900-A-C		not specified	Uncertain significance (Aug 08, 2023)
8-89924906-C-T		not specified	Uncertain significance (Sep 13, 2023)
8-89924954-G-A		not specified	Uncertain significance (Jan 20, 2023)
8-89924970-G-C			Benign (Jul 16, 2018)
8-89925128-T-C			Likely benign (Mar 01, 2022)
8-89925182-A-G		not specified	Uncertain significance (Jan 30, 2024)
8-89925183-T-C		not specified	Uncertain significance (Dec 21, 2021)
8-89925224-T-A		not specified	Uncertain significance (Jun 30, 2022)
8-89925224-T-C		not specified	Uncertain significance (Feb 07, 2023)
8-89925243-T-C		not specified	Uncertain significance (Aug 11, 2022)
8-89925284-G-A		not specified	Uncertain significance (Dec 21, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OSGIN2	protein_coding	protein_coding	ENST00000451899	6	26030

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.593	0.407	125722	0	23	125745	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.88	200	290	0.689	0.0000152	3575
Missense in Polyphen		43	89.512	0.48038		1074
Synonymous	0.731	97	107	0.910	0.00000588	1071
Loss of Function	3.66	5	24.6	0.203	0.00000162	307

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000239	0.000237
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000101	0.0000967
Middle Eastern	0.000111	0.000109
South Asian	0.0000657	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in meiosis or the maturation of germ cells.

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.483
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.88

Haploinsufficiency Scores

• pHI: 0.0853
• hipred: Y
• hipred_score: 0.580
• ghis: 0.548

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.410

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Osgin2

Gene ontology

• Biological process: regulation of signaling receptor activity;negative regulation of cell growth;meiotic cell cycle
• Cellular component: cellular_component
• Molecular function: molecular_function;growth factor activity