ADCK2

aarF domain containing kinase 2

Basic information

Region (hg38): 7:140672945-140696261

Links

ENSG00000133597 ∙ NCBI:90956 ∙ ∙ HGNC:19039 ∙ Uniprot:Q7Z695 ∙ 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 ADCK2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADCK2 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				4		4
missense			34	4		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region						0
non coding						0
Total	0	0	34	9	0

Variants in ADCK2

This is a list of pathogenic ClinVar variants found in the ADCK2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-140673347-G-T		not specified	Uncertain significance (Oct 10, 2023)
7-140673381-G-A			Likely benign (Jun 01, 2022)
7-140673391-C-G		not specified	Uncertain significance (Feb 23, 2023)
7-140673454-C-T			Likely benign (Aug 01, 2022)
7-140673479-T-C		not specified	Uncertain significance (Jun 01, 2023)
7-140673586-C-G		not specified	Uncertain significance (Jun 24, 2022)
7-140673640-G-T		not specified	Uncertain significance (Jan 26, 2023)
7-140673682-C-T		not specified	Uncertain significance (Mar 27, 2023)
7-140673700-C-T		not specified	Uncertain significance (Apr 09, 2024)
7-140673740-C-T		ADCK2-related disorder	Likely benign (Apr 20, 2023)
7-140673979-G-C		not specified	Uncertain significance (Mar 16, 2024)
7-140674005-G-T		not specified	Uncertain significance (Mar 02, 2023)
7-140674024-C-T		not specified	Uncertain significance (Jul 12, 2022)
7-140674204-C-T		not specified	Uncertain significance (Jan 22, 2024)
7-140674208-C-G		not specified	Uncertain significance (May 17, 2023)
7-140674238-C-G		not specified	Uncertain significance (May 31, 2022)
7-140674264-G-C		ADCK2-related disorder	Likely benign (Jan 30, 2023)
7-140674701-A-G		not specified	Uncertain significance (May 02, 2024)
7-140679156-T-C		not specified	Uncertain significance (Feb 16, 2023)
7-140679158-G-C		not specified	Uncertain significance (May 08, 2023)
7-140679236-C-A		not specified	Uncertain significance (Oct 17, 2023)
7-140679260-G-A		not specified	Uncertain significance (Jul 13, 2022)
7-140679277-G-A			Likely benign (Sep 01, 2022)
7-140681083-C-T			Likely benign (Sep 01, 2022)
7-140681084-G-A		not specified	Uncertain significance (Mar 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADCK2	protein_coding	protein_coding	ENST00000072869	8	23109

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.65e-7	0.944	124532	3	1213	125748	0.00485

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.919	311	360	0.864	0.0000199	3969
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00703	0.00703
Ashkenazi Jewish	0.00950	0.00907
East Asian	0.00141	0.00141
Finnish	0.00394	0.00393
European (Non-Finnish)	0.00656	0.00633
Middle Eastern	0.00141	0.00141
South Asian	0.00151	0.00150
Other	0.00599	0.00588

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.134
• hipred: N
• hipred_score: 0.311
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.896

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adck2
• Phenotype: homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: protein phosphorylation
• Cellular component: integral component of membrane
• Molecular function: protein serine/threonine kinase activity;protein binding;ATP binding