ANKRD24
Ankyrin Repeat Domain 24
Gene Information Card
| Symbol | ANKRD24 |
|---|---|
| Full Name | Ankyrin Repeat Domain 24 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 170954 ncbi.nlm.nih.gov/gene/170954 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | Q8N8V2 |
| OMIM ID | 615929 |
| HGNC ID | 29326 |
| Aliases | FLJ14154, MGC131891, MGC148036 |
Description
ANKRD24 (Ankyrin Repeat Domain 24) is a protein-coding gene located on chromosome 19p13.2. It encodes a protein containing ankyrin repeats, which are involved in protein-protein interactions. The gene is expressed in various tissues, with notable levels in the brain and testis. Its function is not fully characterized, but it may play a role in cellular signaling and structural organization. Mutations in ANKRD24 have been associated with certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (unspecified) | Altered expression or mutation may contribute to tumorigenesis | COSMIC database reports somatic mutations in various cancer types |
| Developmental disorder (unspecified) | Potential role in neurodevelopment based on brain expression | ClinVar lists variants of uncertain significance |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 4.8 | Low |
| Lung | 2.1 | Not detected |
| Liver | 1.5 | Not detected |
| Heart | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.5 | Moderate expression |
| HeLa | 2.0 | Low expression |
| K562 | 1.2 | Low expression |
| MCF7 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Gln297Arg) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ankyrin repeat binding (GO:0005516) |
Pathways
• No curated pathways available
Protein Summary
The ANKRD24 protein contains multiple ankyrin repeats, which are common motifs mediating protein-protein interactions. It is predicted to be involved in cellular signaling and structural organization. The protein is expressed at low levels in brain and testis, and its exact biological role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD24 Knockout HEK293 Cell Line | EDJ-KQ12357 | Human | 170961 | Details Get a Quote |
| ANKRD24 Knockout HeLa Cell Line | EDJ-KQ58949 | Human | 170961 | Details Get a Quote |
| ANKRD24 Knockout A-549 Cell Line | EDJ-KQ67437 | Human | 170961 | Details Get a Quote |
| ANKRD24 Knockout HCT 116 Cell Line | EDJ-KQ75832 | Human | 170961 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
