ANKRD6
Ankyrin Repeat Domain 6
Gene Information Card
| Symbol | ANKRD6 |
|---|---|
| Full Name | Ankyrin Repeat Domain 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 22881 ncbi.nlm.nih.gov/gene/22881 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q6ZNE5 |
| OMIM ID | 610583 |
| HGNC ID | 29025 |
| Aliases | ANKRD6, ankyrin repeat domain 6, FLJ20032, MGC138290 |
Description
ANKRD6 (ankyrin repeat domain 6) is a protein-coding gene located on chromosome 6q14.1. It encodes a protein containing multiple ankyrin repeats, which are involved in protein-protein interactions. ANKRD6 is implicated in developmental signaling pathways, including the Wnt/β-catenin pathway, and has been associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered Wnt/β-catenin signaling via ANKRD6 expression changes | COSMIC, ClinVar |
| Hepatocellular carcinoma | Dysregulation of ANKRD6 affecting cell proliferation | NCBI Gene, COSMIC |
| Neurodevelopmental disorders | Potential role in neuronal migration and differentiation | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Liver | 3.8 | Low |
| Colon | 4.1 | Low |
| Kidney | 2.9 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Embryonic kidney |
| HepG2 | 3.2 | Hepatocellular carcinoma |
| HCT116 | 5.8 | Colorectal carcinoma |
| SH-SY5Y | 6.1 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown functional impact |
| c.567delA | Frameshift | <0.01% | Predicted loss of function |
| c.890G>A | Nonsense | <0.01% | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause 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)
| • protein binding | • ankyrin repeat binding |
| • Wnt signaling pathway | • cell differentiation |
| • nervous system development |
Pathways
• Wnt signaling pathway
• Hippo signaling pathway
Protein Summary
The ANKRD6 protein contains multiple ankyrin repeats that mediate protein-protein interactions. It is involved in the regulation of the Wnt/β-catenin signaling pathway, influencing cell proliferation, differentiation, and development. Expression is observed in various tissues, with highest levels in testis and brain. Mutations are rare but may contribute to cancer and neurodevelopmental phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD60 Knockout HEK293 Cell Line | EDJ-KQ3802 | Human | 140731 | Details Get a Quote |
| ANKRD6 Knockout HEK293 Cell Line | EDJ-KQ7725 | Human | 22881 | Details Get a Quote |
| ANKRD61 Knockout HEK293 Cell Line | EDJ-KQ12375 | Human | 100310846 | Details Get a Quote |
| ANKRD62 Knockout HEK293 Cell Line | EDJ-KQ12376 | Human | 342850 | Details Get a Quote |
| ANKRD65 Knockout HEK293 Cell Line | EDJ-KQ12378 | Human | 441869 | Details Get a Quote |
| ANKRD66 Knockout HEK293 Cell Line | EDJ-KQ12379 | Human | 100287718 | Details Get a Quote |
| ANKRD6 Knockout A-549 Cell Line | EDJ-KQ33138 | Human | 22881 | Details Get a Quote |
| ANKRD6 Knockout HCT 116 Cell Line | EDJ-KQ33139 | Human | 22881 | Details Get a Quote |
| ANKRD61 Knockout A-549 Cell Line | EDJ-KQ41241 | Human | 100310846 | Details Get a Quote |
| ANKRD61 Knockout HCT 116 Cell Line | EDJ-KQ41242 | Human | 100310846 | Details Get a Quote |
| ANKRD61 Knockout HeLa Cell Line | EDJ-KQ41243 | Human | 100310846 | Details Get a Quote |
| ANKRD6 Knockout HeLa Cell Line | EDJ-KQ55649 | Human | 22881 | Details Get a Quote |
| ANKRD60 Knockout HeLa Cell Line | EDJ-KQ58454 | Human | 140731 | Details Get a Quote |
| ANKRD62 Knockout HeLa Cell Line | EDJ-KQ59730 | Human | 342850 | Details Get a Quote |
| ANKRD65 Knockout HeLa Cell Line | EDJ-KQ60440 | Human | 441869 | Details Get a Quote |
Displaying Records 1 To 15 Of 24 Records
