KANK4
protein-codingKN motif and ankyrin repeat domains 4, the group of KN motif and ankyrin repeat domain containing
Gene summary
Predicted to be involved in negative regulation of actin filament polymerization. Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]
- ANKRD38
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~83.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0005377
Submitter: PanelApp Australia
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to KANK4 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_181712.5. 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 | 65 | 4 | 69 | |||
| missense | 240 | 31 | 2 | 273 | ||
| nonsense | 5 | 5 | ||||
| start loss | 0 | |||||
| frameshift | 5 | 1 | 6 | |||
| splice donor/acceptor (+/-2bp) | 2 | 1 | 3 | |||
| Total | 0 | 0 | 252 | 98 | 6 | 356 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_859063.3 | 9 | MANE Select | |
| Ensembl | ENSP00000360195.4 | 9 | MANE Select | |
| RefSeq | NP_001307198.1 | 8 | Standard | |
| Ensembl | ENSP00000321161.4 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- negative regulation of actin filament polymerization
Cellular Component
- cytoplasm
- cytosol
- microtubule cytoskeleton
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000371153
- Coding exons
- 9
- Length
- 82435
- Individuals with no LoFs
- 124568
- Homozygous LoFs
- 5
- Heterozygous LoFs
- 1175
- Defined
- 125748
- p
- 0.00470
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.203 | 541 | 554 | 0.976 | 0.0000301 | 6457 |
| Missense (PolyPhen) | 89 | 102.07 | 0.87195 | 1107 | ||
| Synonymous | 0.795 | 226 | 242 | 0.935 | 0.0000151 | 2059 |
| Loss of Function | 2.51 | 20 | 36.3 | 0.551 | 0.00000191 | 418 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0014 | 0.0014 | notable |
| Latino/Admixed American | 0.0057 | 0.0057 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00033 | 0.00033 | rare |
| Finnish | 0.00097 | 0.00097 | rare |
| European (Non-Finnish) | 0.0076 | 0.0076 | notable |
| South Asian | 0.0018 | 0.0018 | notable |
| Other | 0.0036 | 0.0036 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May be involved in the control of cytoskeleton formation by regulating actin polymerization.;
Recessive Scores
- pRec
- 0.0938
Intolerance Scores
- LoFtool
- 0.819
- RVIS EVS
- 0.95
- RVIS percentile EVS
- 89.9
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0526
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |