ANKRA2
protein-codingankyrin repeat family A member 2, the group of Ankyrin repeat domain containing
Gene summary
Enables enzyme binding activity and low-density lipoprotein particle receptor binding activity. Involved in regulation of protein-containing complex assembly. Located in 3M complex; cytosol; and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~13.5 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 ANKRA2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_023039.5. 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 | 0 | |||||
| missense | 37 | 37 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 38 | 0 | 0 | 38 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_075526.1 | 8 | MANE Select | |
| Ensembl | ENSP00000296785.3 | 8 | MANE Select | |
| Ensembl | ENSP00000422643.1 | 4 | Standard | |
| Ensembl | ENSP00000530832.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Signaling events mediated by HDAC Class II
Biological Process
- regulation of protein complex assembly
Molecular Function
- protein binding
- protein kinase binding
- ubiquitin protein ligase binding
- histone deacetylase binding
- low-density lipoprotein particle receptor binding
Cellular Component
- nucleus
- cytosol
- cytoskeleton
- membrane
- protein-containing complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000296785
- Coding exons
- 8
- Length
- 13352
- Individuals with no LoFs
- 125709
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 38
- Defined
- 125747
- p
- 0.000151
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.825 | 136 | 166 | 0.820 | 0.00000783 | 2044 |
| Missense (PolyPhen) | 57 | 90.931 | 0.62685 | 1130 | ||
| Synonymous | 0.633 | 55 | 61.3 | 0.897 | 0.00000313 | 614 |
| Loss of Function | 1.35 | 11 | 17.0 | 0.646 | 9.38e-7 | 199 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.00014 | 0.00014 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00024 | 0.00024 | rare |
| South Asian | 0.00013 | 0.00013 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May regulate the interaction between the 3M complex and the histone deacetylases HDAC4 and HDAC5 (PubMed:25752541). May also regulate LRP2/megalin (By similarity). {ECO:0000250|UniProtKB:A2ARV4, ECO:0000269|PubMed:25752541}.;
Recessive Scores
- pRec
- 0.121
Intolerance Scores
- LoFtool
- 0.737
- RVIS EVS
- -0.32
- RVIS percentile EVS
- 31.46
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.773
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |