OCIAD2

protein-coding

OCIA domain containing 2

Gene summary

Involved in cell migration and mitochondrial respiratory chain complex III assembly. Located in endosome and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001014446.3

Inheritance

—

ClinVar variants

U:36B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr4:48,885,019-48,906,937

External References & Databases

Ensembl (ENSG00000145247)

Transcript & Mutation Effects

hg38 • Region Span ~21.9 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 OCIAD2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 30

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001014446.3. 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						0
missense			32 clinvar	2 clinvar		34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	36	2	0	38

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 58 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001014446.3	RefSeq	NP_001014446.1	6	MANE Select
ENST00000508632.6	Ensembl	ENSP00000423014.1	6	MANE Select
NM_001286773.2	RefSeq	NP_001273702.1	5	Standard
NM_001286774.2	RefSeq	NP_001273703.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to bacterium

Cellular Component

endosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000508632
Coding exons: 6
Length: 21919
Individuals with no LoFs: 125700
Homozygous LoFs: 0
Heterozygous LoFs: 48
Defined: 125748
p: 0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.289	74	81.3	0.910	0.00000403	997
Missense (PolyPhen)		25	28.862	0.86618		380
Synonymous	0.780	22	27.2	0.810	0.00000126	283
Loss of Function	0.777	8	10.7	0.744	6.30e-7	116

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00028	0.00025	rare
Latino/Admixed American	0.000067	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00062	0.00060	rare
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00020	0.00020	rare
South Asian	0.00014	0.00013	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0729

Intolerance Scores

LoFtool: 0.809
RVIS EVS: 0.59
RVIS percentile EVS: 82.45

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.231

Gene Damage Prediction

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