Identity
HGNC
LOCATION
9q22.33
LOCUSID
ALIAS
ANKRD14,NPHP16,PKDR1,SAMD6
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 203286
MIM: 615370
HGNC: 26724
Ensembl: ENSG00000165138
Variants:
dbSNP: 203286
ClinVar: 203286
TCGA: ENSG00000165138
COSMIC: ANKS6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165138 | ENST00000353234 | Q68DC2 |
| ENSG00000165138 | ENST00000375019 | A0A0A0MRS7 |
| ENSG00000165138 | ENST00000444472 | H7C163 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34740236 | 2022 | Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation. | 2 |
| 34740236 | 2022 | Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation. | 2 |
| 24610927 | 2014 | Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD. | 21 |
| 24998259 | 2014 | Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3. | 17 |
| 24610927 | 2014 | Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD. | 21 |
| 24998259 | 2014 | Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3. | 17 |
| 23793029 | 2013 | ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. | 106 |
| 23793029 | 2013 | ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. | 106 |
| 18434273 | 2008 | Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat. | 2 |
| 18978678 | 2008 | Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. | 36 |
| 18434273 | 2008 | Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat. | 2 |
| 18978678 | 2008 | Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. | 36 |
Citation
Dessen P
ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60372/anks6-(ankyrin-repeat-and-sterile-alpha-motif-domain-containing-6)
