Human Gene ANKS6 (uc004ayu.3) Description and Page Index
Description: Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA. RefSeq Summary (NM_173551): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CR749467.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000353234.5/ ENSP00000297837.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr9:101,494,291-101,558,794 Size: 64,504 Total Exon Count: 15 Strand: - Coding Region Position: hg19 chr9:101,498,801-101,558,773 Size: 59,973 Coding Exon Count: 15
Cleft Lip|Cleft Palate|Tooth Abnormalities Alexandre R Vieira , et al. Genetics in medicine 2008 10(9):668-74, Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts., Genetics in medicine 2008 10(9):668-74.
These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q68DC2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.