OGFOD3

protein-coding

2-oxoglutarate and iron dependent oxygenase domain containing 3

Gene summary

Predicted to enable several functions, including L-ascorbic acid binding activity; dioxygenase activity; and iron ion binding activity. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C17orf101

MANE transcript

NM_024648.3

Inheritance

—

ClinVar variants

U:53B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.85

Max pathogenic AF

—

Genomic locus

chr17:82,389,210-82,418,637

External References & Databases

Ensembl (ENSG00000181396)

Transcript & Mutation Effects

hg38 • Region Span ~29.4 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 OGFOD3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 65

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024648.3. 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			2 clinvar	1 clinvar	1 clinvar	4
missense			45 clinvar	6 clinvar		51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	53	7	1	61

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 46 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024648.3	RefSeq	NP_078924.1	9	MANE Select
ENST00000313056.10	Ensembl	ENSP00000320116.5	9	MANE Select
NM_175902.5	RefSeq	NP_787098.3	9	Standard
ENST00000329197.10	Ensembl	ENSP00000330075.5	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

oxidation-reduction process

Molecular Function

iron ion binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
L-ascorbic acid binding
dioxygenase activity

Cellular Component

membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000329197
Coding exons: 9
Length: 29415
Individuals with no LoFs: 124427
Homozygous LoFs: 4
Heterozygous LoFs: 1317
Defined: 125748
p: 0.00527

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.557	196	219	0.894	0.0000151	2116
Missense (PolyPhen)		56	72.238	0.77521		684
Synonymous	0.437	91	96.5	0.943	0.00000733	668
Loss of Function	0.580	15	17.6	0.851	9.14e-7	201

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0061	0.0061	notable
Latino/Admixed American	0.0025	0.0025	notable
Ashkenazi Jewish	0.019	0.019	notable
East Asian	0.00065	0.00065	rare
Finnish	0.0014	0.0013	notable
European (Non-Finnish)	0.0076	0.0075	notable
South Asian	0.00063	0.00062	rare
Other	0.0057	0.0057	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.82
RVIS percentile EVS: 88.04

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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