ANKRD40
Ankyrin Repeat Domain 40
Gene Information Card
| Symbol | ANKRD40 |
|---|---|
| Full Name | Ankyrin Repeat Domain 40 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 91369 ncbi.nlm.nih.gov/gene/91369 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q9H9E3 |
| OMIM ID | 615922 |
| HGNC ID | 29029 |
| Aliases | FLJ10305, MGC13170 |
Description
ANKRD40 encodes a protein containing ankyrin repeats, which are common motifs involved in protein-protein interactions. The exact biological function of ANKRD40 is not fully characterized, but it is thought to play a role in cellular signaling and may be involved in transcriptional regulation. Expression data suggest broad tissue distribution with highest levels in the testis and certain brain regions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Unknown | No direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Cerebellum | 10.8 | Medium |
| Cerebral cortex | 8.5 | Medium |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.2 | Low expression |
| HepG2 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | missense | <0.01% | Unknown functional impact |
| c.567_568del (p.Gln189fs) | frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Gln189fs) are predicted to cause loss of function due to premature truncation.
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 | • ankyrin repeat binding |
| • cytoplasm | • nucleus |
Pathways
• No specific pathways annotated
Protein Summary
The ANKRD40 protein (UniProt Q9H9E3) contains multiple ankyrin repeats and is localized to both the cytoplasm and nucleus. Its molecular function involves protein binding, likely mediating interactions in signaling complexes. The protein is 617 amino acids long with a molecular weight of ~68 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD40 Knockout HEK293 Cell Line | EDJ-KQ10725 | Human | 91369 | Details Get a Quote |
| ANKRD40CL Knockout HEK293 Cell Line | EDJ-KQ11247 | Human | 55018 | Details Get a Quote |
| ANKRD40 Knockout A-549 Cell Line | EDJ-KQ38288 | Human | 91369 | Details Get a Quote |
| ANKRD40 Knockout HCT 116 Cell Line | EDJ-KQ38289 | Human | 91369 | Details Get a Quote |
| ANKRD40 Knockout HeLa Cell Line | EDJ-KQ38290 | Human | 91369 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
