ANKS6 Gene Summary [Human]
This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
Details
| Type | Protein Coding |
| Official Symbol | ANKS6 |
| Official Name | ankyrin repeat and sterile alpha motif domain containing 6 [Source:HGNC Symbol;Acc:HGNC:26724] |
| Ensembl ID | ENSG00000165138 |
| Bio databases IDs | |
| Aliases | ankyrin repeat and sterile alpha motif domain containing 6 |
| Synonyms | 2210417J20Rik, ANKRD14, ankyrin repeat and sterile alpha motif domain containing 6, ankyrin repeat and sterile α motif domain containing 6, b2b1801.1Clo, Gm635, NPHP16, PKDR1, SamCystin, SAMD6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ANKS6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sterile alpha motif
- Ankyrin repeats (many copies)
- SAM (Sterile alpha motif )
- SAM domain (Sterile alpha motif)
- Ankyrin repeats (3 copies)
- protein binding
- identical protein binding
- Ankyrin repeat
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- fibrosis
- nephronophthisis type 16
- situs inversus
- congenital heart disease
- periportal fibrosis
- overriding aorta
- situs ambiguus
- situs inversus totalis
- portal hypertension
- atrioventricular septal defect
role in cell
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANKS6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- in utero embryonic development
- kidney development
- determination of left/right symmetry
Cellular Component
Where in the cell the gene product is active
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding