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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr9:101,494,291-101,558,794)mRNA (may differ from genome)Protein (871 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Ankyrin repeat and SAM domain-containing protein 6; AltName: Full=Ankyrin repeat domain-containing protein 14; AltName: Full=SamCystin; AltName: Full=Sterile alpha motif domain-containing protein 6; Short=SAM domain-containing protein 6;
FUNCTION: Required for renal function (By similarity).
SIMILARITY: Contains 11 ANK repeats.
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.
SEQUENCE CAUTION: Sequence=AAH64367.1; Type=Erroneous initiation; Sequence=BAC04317.1; Type=Erroneous initiation; Sequence=CAH18298.1; Type=Erroneous initiation; Sequence=CAH69985.2; Type=Erroneous gene model prediction; Sequence=CAH69986.2; Type=Erroneous gene model prediction; Sequence=CAH71295.2; Type=Erroneous gene model prediction; Sequence=CAH71296.2; Type=Erroneous gene model prediction;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ANKS6
CDC HuGE Published Literature: ANKS6
Positive Disease Associations: Cleft Lip|Cleft Palate|Tooth Abnormalities
Related Studies:
  1. 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. [PubMed 18978678]
    These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies.

-  MalaCards Disease Associations
  MalaCards Gene Search: ANKS6
Diseases sorted by gene-association score: nephronophthisis 16* (1679), interstitial nephritis (23), nephronophthisis (18), polycystic kidney disease 3 (6), end stage renal failure (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.26 RPKM in Brain - Cerebellum
Total median expression: 223.01 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.5021-0.500 Picture PostScript Text
3' UTR -1660.354510-0.368 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR021129 - SAM_type1

Pfam Domains:
PF00023 - Ankyrin repeat
PF00536 - SAM domain (Sterile alpha motif)
PF07647 - SAM domain (Sterile alpha motif)
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
47769 - SAM/Pointed domain
48403 - Ankyrin repeat

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Cellular Component:
GO:0005737 cytoplasm
GO:0005929 cilium
GO:0042995 cell projection

-  Descriptions from all associated GenBank mRNAs
  AK094247 - Homo sapiens cDNA FLJ36928 fis, clone BRACE2005216, weakly similar to Xenopus laevis bicaudal-C (Bic-C) mRNA.
AK074328 - Homo sapiens cDNA FLJ23748 fis, clone HEP16260.
CR749472 - Homo sapiens mRNA; cDNA DKFZp781I0117 (from clone DKFZp781I0117).
AK126614 - Homo sapiens cDNA FLJ44652 fis, clone BRACE2042541.
CR749467 - Homo sapiens mRNA; cDNA DKFZp686D24121 (from clone DKFZp686D24121).
AK127702 - Homo sapiens cDNA FLJ45802 fis, clone NT2RI3001967, highly similar to Ankyrin repeat and SAM domain-containing protein 6.
JD222002 - Sequence 203026 from Patent EP1572962.
JD079027 - Sequence 60051 from Patent EP1572962.
JD290701 - Sequence 271725 from Patent EP1572962.
JD544901 - Sequence 525925 from Patent EP1572962.
JD545092 - Sequence 526116 from Patent EP1572962.
JD293568 - Sequence 274592 from Patent EP1572962.
JD541399 - Sequence 522423 from Patent EP1572962.
JD179447 - Sequence 160471 from Patent EP1572962.
JD093838 - Sequence 74862 from Patent EP1572962.
JD478740 - Sequence 459764 from Patent EP1572962.
JD148518 - Sequence 129542 from Patent EP1572962.
JD467514 - Sequence 448538 from Patent EP1572962.
JD120602 - Sequence 101626 from Patent EP1572962.
BC064367 - Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6, mRNA (cDNA clone MGC:70366 IMAGE:5562895), complete cds.
JD104609 - Sequence 85633 from Patent EP1572962.
JD094794 - Sequence 75818 from Patent EP1572962.
KJ904006 - Synthetic construct Homo sapiens clone ccsbBroadEn_13400 ANKS6 gene, encodes complete protein.
CU687864 - Synthetic construct Homo sapiens gateway clone IMAGE:100021731 5' read ANKS6 mRNA.
BC012981 - Homo sapiens cDNA clone IMAGE:3620129.
KJ905038 - Synthetic construct Homo sapiens clone ccsbBroadEn_14432 ANKS6 gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: A0SE62, ANKRD14, ANKS6_HUMAN, NM_173551, NP_775822, Q5VSL0, Q5VSL2, Q5VSL3, Q5VSL4, Q68DB8, Q68DC2, Q6P2R2, Q8N9L6, Q96D62, SAMD6
UCSC ID: uc004ayu.3
RefSeq Accession: NM_173551
Protein: Q68DC2 (aka ANKS6_HUMAN)
CCDS: CCDS43856.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ANKS6:
hepatic-fibrosis (Congenital Hepatic Fibrosis Overview)
nephron-ov (Nephronophthisis)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_173551.3
exon count: 15CDS single in 3' UTR: no RNA size: 7147
ORF size: 2616CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5432.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 3993# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.