ARMC6 (Armadillo Repeat Containing 6)
A gene encoding a protein with armadillo repeats, involved in cellular signaling and potential roles in cancer and developmental processes.
Gene Information Card
| Symbol | ARMC6 |
|---|---|
| Full Name | Armadillo Repeat Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 93436 ncbi.nlm.nih.gov/gene/93436 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q6NXE6 |
| OMIM ID | 616178 |
| HGNC ID | 23189 |
| Aliases | FLJ20366, MGC13170 |
Description
ARMC6 (armadillo repeat containing 6) is a protein-coding gene located on chromosome 19p13.2. The encoded protein contains armadillo repeats, which are involved in protein-protein interactions and may play roles in Wnt signaling, cell adhesion, and intracellular transport. ARMC6 is ubiquitously expressed and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may influence tumor progression; armadillo repeats suggest involvement in cell adhesion and signaling pathways. | COSMIC (mutations observed); NCBI Gene (expression studies) |
| Colorectal cancer | Mutations and copy number alterations reported; potential role in Wnt pathway modulation. | COSMIC (mutations); ClinVar (variant associations) |
| Developmental delay | Rare variants in ARMC6 have been associated with neurodevelopmental phenotypes. | ClinVar (pathogenic variants) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | High expression |
| HeLa | 14.2 | Medium expression |
| MCF7 | 9.8 | Low expression |
| A549 | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Likely benign |
| c.789_790insA | Frameshift | <0.01% | Predicted loss-of-function; observed in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789_790insA) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations currently documented.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • cell adhesion (GO:0007155) |
| • Wnt signaling pathway (GO:0016055) |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Cell-cell junction organization (Reactome: R-HSA-421270)
Protein Summary
The ARMC6 protein (UniProt Q6NXE6) contains multiple armadillo repeats, which are helical domains that mediate protein-protein interactions. It localizes to the cytoplasm and nucleus, and is implicated in Wnt signaling and cell adhesion. The protein is 789 amino acids long with a molecular weight of approximately 87 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARMC6 Knockout HEK293 Cell Line | EDJ-KQ11234 | Human | 93436 | Details Get a Quote |
| ARMC6 Knockout A-549 Cell Line | EDJ-KQ39310 | Human | 93436 | Details Get a Quote |
| ARMC6 Knockout HCT 116 Cell Line | EDJ-KQ39311 | Human | 93436 | Details Get a Quote |
| ARMC6 Knockout HeLa Cell Line | EDJ-KQ39312 | Human | 93436 | Details Get a Quote |
