OSGIN2

protein-coding

oxidative stress induced growth inhibitor family member 2

Gene summary

Predicted to enable growth factor activity. Predicted to be involved in negative regulation of cell growth. Predicted to be located in midbody. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C8orf1

MANE transcript

NM_001126111.3

Inheritance

—

ClinVar variants

U:70B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.2

Max pathogenic AF

—

Genomic locus

chr8:89,901,849-89,927,888

External References & Databases

Ensembl (ENSG00000164823)

Transcript & Mutation Effects

hg38 • Region Span ~26.0 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 OSGIN2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 66

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001126111.3. 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				6 clinvar	1 clinvar	7
missense			66 clinvar	2 clinvar	1 clinvar	69
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	70	8	2	80

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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_001126111.3	RefSeq	NP_001119583.1	6	MANE Select
ENST00000451899.7	Ensembl	ENSP00000396445.2	6	MANE Select
NM_004337.2	RefSeq	NP_004328.1	5	Standard
ENST00000297438.6	Ensembl	ENSP00000297438.2	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of signaling receptor activity
negative regulation of cell growth
meiotic cell cycle

Molecular Function

molecular_function
growth factor activity

Cellular Component

cellular_component

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000451899
Coding exons: 6
Length: 26030
Individuals with no LoFs: 125722
Homozygous LoFs: 0
Heterozygous LoFs: 23
Defined: 125745
p: 0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.88	200	290	0.689	0.0000152	3575
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000063	0.000062	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00010	0.000097	rare
South Asian	0.000066	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.410

Gene Damage Prediction

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