AK8
protein-codingadenylate kinase 8, the group of Adenylate kinases
Gene summary
Enables AMP binding activity and nucleobase-containing compound kinase activity. Predicted to be involved in nucleoside monophosphate phosphorylation. Predicted to act upstream of or within ventricular system development. Located in 9+2 motile cilium. [provided by Alliance of Genome Resources, Apr 2025]
- C9orf98
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~153.2 kbGenCC 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 AK8 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_152572.3. 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 | 74 | 4 | 78 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 76 | 4 | 0 | 80 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_689785.1 | 13 | MANE Select | |
| Ensembl | ENSP00000298545.3 | 13 | MANE Select | |
| RefSeq | NP_001304887.1 | 6 | Standard | |
| RefSeq | NP_001304888.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Purine metabolism - Homo sapiens (human)
- Thiamine metabolism - Homo sapiens (human)
- adenosine ribonucleotides <i>de novo</i> biosynthesis
- Metabolism of nucleotides
- Interconversion of nucleotide di- and triphosphates
Biological Process
- nucleoside diphosphate phosphorylation
- nucleoside triphosphate biosynthetic process
- nucleobase-containing small molecule interconversion
- ventricular system development
- nucleoside monophosphate phosphorylation
Molecular Function
- adenylate kinase activity
- cytidylate kinase activity
- nucleoside diphosphate kinase activity
- protein binding
- ATP binding
Cellular Component
- cytosol
- axoneme
- sperm flagellum
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000298545
- Coding exons
- 13
- Length
- 153200
- Individuals with no LoFs
- 125655
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 93
- Defined
- 125748
- p
- 0.000370
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.714 | 240 | 273 | 0.878 | 0.0000155 | 3135 |
| Missense (PolyPhen) | 100 | 113.43 | 0.88162 | 1246 | ||
| Synonymous | 0.130 | 111 | 113 | 0.984 | 0.00000709 | 905 |
| Loss of Function | 0.848 | 19 | 23.4 | 0.811 | 9.98e-7 | 286 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00086 | 0.00080 | rare |
| Latino/Admixed American | 0.000059 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00060 | 0.00060 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00048 | 0.00047 | rare |
| South Asian | 0.00038 | 0.00036 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity. {ECO:0000269|PubMed:21080915, ECO:0000269|PubMed:23416111}.;
Recessive Scores
- pRec
- 0.159
Intolerance Scores
- RVIS EVS
- 0.07
- RVIS percentile EVS
- 59.04
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |