ANO8 (Anoctamin 8) Gene
Comprehensive Gene Overview and Biomedical Resource
Gene Information Card
| Symbol | ANO8 |
|---|---|
| Full Name | anoctamin 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 57719 ncbi.nlm.nih.gov/gene/57719 |
| Ensembl ID | ENSG00000104872 |
| UniProt ID | Q9H0A9 |
| OMIM ID | 610529 |
| HGNC ID | 29325 |
| Aliases | TMEM16H, DKFZp434B1231 |
Description
ANO8 (anoctamin 8) is a protein-coding gene belonging to the anoctamin family, which encodes calcium-activated chloride channels. The protein is involved in ion transport and cellular signaling. ANO8 is expressed in various tissues and has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect cell proliferation and migration; potential role in tumorigenesis | COSMIC; literature |
| Intellectual disability | Rare variants reported in patients with neurodevelopmental phenotypes | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Kidney | 6.1 | Low |
| Testis | 15.3 | Medium |
| Thyroid | 10.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression in embryonic kidney cells |
| SH-SY5Y | 9.5 | Neuroblastoma cell line |
| A549 | 7.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional impact |
| c.567delG (p.Glu189fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delG) predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium-activated chloride channel activity | • ion transport |
| • plasma membrane | • chloride channel complex |
Pathways
• Calcium signaling pathway
• Ion transport by P-type ATPases
Protein Summary
Anoctamin 8 is a transmembrane protein that functions as a calcium-activated chloride channel. It is localized to the plasma membrane and involved in ion homeostasis and cellular signaling. The protein is encoded by the ANO8 gene located on chromosome 19p13.11.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANO8 Knockout HEK293 Cell Line | EDJ-KQ12383 | Human | 57719 | Details Get a Quote |
| ANO8 Knockout A-549 Cell Line | EDJ-KQ41247 | Human | 57719 | Details Get a Quote |
| ANO8 Knockout HCT 116 Cell Line | EDJ-KQ41248 | Human | 57719 | Details Get a Quote |
| ANO8 Knockout HeLa Cell Line | EDJ-KQ41249 | Human | 57719 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
