ADCK2

protein-coding

aarF domain containing kinase 2

Gene summary

Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in regulation of ubiquinone biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_052853.4

Inheritance

—

ClinVar variants

U:98B:13

Top phenotype

ADCK2-related disorder

gnomAD constraint

pLI —, LoF o/e 0.59

Max pathogenic AF

—

Genomic locus

chr7:140,672,945-140,696,261

External References & Databases

Ensembl (ENSG00000133597)

Transcript & Mutation Effects

hg38 • Region Span ~23.3 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 ADCK2 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 97

not providedTotal: 6

ADCK2-related disorderTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_052853.4. 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				4 clinvar		4
missense			91 clinvar	8 clinvar		99
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar	1 clinvar		7
Total	0	0	98	13	0	111

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 37 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_052853.4	RefSeq	NP_443085.2	8	MANE Select
ENST00000072869.9	Ensembl	ENSP00000072869.4	8	MANE Select
ENST00000473512.1	Ensembl	ENSP00000420288.1	5	Standard
ENST00000476491.5	Ensembl	ENSP00000420512.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation

Molecular Function

protein serine/threonine kinase activity
protein binding
ATP binding

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000072869
Coding exons: 8
Length: 23109
Individuals with no LoFs: 124532
Homozygous LoFs: 3
Heterozygous LoFs: 1213
Defined: 125748
p: 0.00485

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.919	311	360	0.864	0.0000199	3969
Missense (PolyPhen)		86	111.61	0.77057		1338
Synonymous	1.13	145	163	0.888	0.00000930	1389
Loss of Function	1.86	14	23.8	0.588	0.00000124	248

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0014	0.0014	notable
Latino/Admixed American	0.0056	0.0055	notable
Ashkenazi Jewish	0.0095	0.0091	notable
East Asian	0.0014	0.0014	notable
Finnish	0.0039	0.0039	notable
European (Non-Finnish)	0.0066	0.0063	notable
South Asian	0.0015	0.0015	notable
Other	0.0060	0.0059	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).;

Recessive Scores

pRec: 0.0962

Intolerance Scores

LoFtool: 0.896
RVIS EVS: 0.69
RVIS percentile EVS: 85.26

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.896

Gene Damage Prediction

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