ANXA6
protein-codingannexin A6, the group of Annexins
Gene summary
Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]
- ANX6
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~57.1 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 ANXA6 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001155.5. 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 | 6 | 6 | 12 | |||
| missense | 121 | 3 | 124 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 12 | 12 | ||||
| Total | 0 | 0 | 139 | 9 | 0 | 148 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001146.2 | 25 | MANE Select | |
| Ensembl | ENSP00000346550.5 | 25 | MANE Select | |
| RefSeq | NP_001180473.1 | 24 | Standard | |
| RefSeq | NP_001350043.1 | 24 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| anxa6 | Danio rerio | Structure: muscle cell Quality: damaged abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Calcium Regulation in the Cardiac Cell
- Prostaglandin Synthesis and Regulation
- Smooth Muscle Contraction
- Muscle contraction
Biological Process
- neural crest cell migration
- plasma membrane repair
- growth plate cartilage chondrocyte differentiation
- regulation of muscle contraction
- biomineral tissue development
Molecular Function
- phosphatidylserine binding
- calcium channel activity
- calcium ion binding
- protein binding
- GTP binding
Cellular Component
- mitochondrion
- lysosomal membrane
- focal adhesion
- membrane
- late endosome membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000354546
- Coding exons
- 25
- Length
- 57171
- Individuals with no LoFs
- 125458
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 39
- Defined
- 125497
- p
- 0.000155
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.636 | 368 | 404 | 0.911 | 0.0000242 | 4422 |
| Missense (PolyPhen) | 139 | 164.96 | 0.84262 | 1783 | ||
| Synonymous | 1.29 | 128 | 148 | 0.865 | 0.00000869 | 1238 |
| Loss of Function | 3.01 | 20 | 40.7 | 0.491 | 0.00000186 | 501 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00033 | 0.00031 | rare |
| Latino/Admixed American | 0.00021 | 0.00020 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00023 | 0.00022 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00011 | 0.00011 | rare |
| South Asian | 0.00037 | 0.00036 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May associate with CD21. May regulate the release of Ca(2+) from intracellular stores.;
Recessive Scores
- pRec
- 0.209
Intolerance Scores
- LoFtool
- 0.992
- RVIS EVS
- -1.13
- RVIS percentile EVS
- 6.51
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.746
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |