Human Gene ANO3 (uc001mqt.4)
  Description: Homo sapiens anoctamin 3 (ANO3), mRNA.
RefSeq Summary (NM_031418): The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].
Transcript (Including UTRs)
   Position: hg19 chr11:26,353,678-26,684,836 Size: 331,159 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg19 chr11:26,353,823-26,681,991 Size: 328,169 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:26,353,678-26,684,836)mRNA (may differ from genome)Protein (981 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANO3_HUMAN
DESCRIPTION: RecName: Full=Anoctamin-3; AltName: Full=Transmembrane protein 16C;
FUNCTION: May act as a calcium-activated chloride channel.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the anoctamin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ANO3
CDC HuGE Published Literature: ANO3
Positive Disease Associations: Body Mass Index , Body Weight Changes , C-Reactive Protein , Cholesterol , Coronary Artery Disease , Obesity , Schizophrenia , Waist Circumference
Related Studies:
  1. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Body Weight Changes
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  3. C-Reactive Protein
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ANO3
Diseases sorted by gene-association score: dystonia 24* (1687), dystonia (15), focal dystonia (9), early-onset generalized dystonia (7), essential tremor (7)
* = 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: 35.11 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 116.29 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.90145-0.399 Picture PostScript Text
3' UTR -701.862845-0.247 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
IPR007632 - Anoctamin

Pfam Domains:
PF04547 - Calcium-activated chloride channel
PF16178 - Dimerisation domain of Ca+-activated chloride-channel, anoctamin

ModBase Predicted Comparative 3D Structure on Q9BYT9
FrontTopSide
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 orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
      
      
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005229 intracellular calcium activated chloride channel activity
GO:0017128 phospholipid scramblase activity
GO:0046983 protein dimerization activity

Biological Process:
GO:0006869 lipid transport
GO:0016048 detection of temperature stimulus
GO:0034220 ion transmembrane transport
GO:0050982 detection of mechanical stimulus
GO:0061588 calcium activated phospholipid scrambling
GO:0061590 calcium activated phosphatidylcholine scrambling
GO:0061591 calcium activated galactosylceramide scrambling

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK304781 - Homo sapiens cDNA FLJ51734 complete cds, highly similar to Transmembrane protein 16C.
AJ300461 - Homo sapiens mRNA for C11ORF25 gene.
AK302659 - Homo sapiens cDNA FLJ51153 complete cds, highly similar to Transmembrane protein 16C.
BC172396 - Synthetic construct Homo sapiens clone IMAGE:100069090, MGC:199101 anoctamin 3 (ANO3) mRNA, encodes complete protein.
AK295143 - Homo sapiens cDNA FLJ50961 complete cds, highly similar to Transmembrane protein 16C.
AK316018 - Homo sapiens cDNA, FLJ78917 complete cds, highly similar to Transmembrane protein 16C.
AK295816 - Homo sapiens cDNA FLJ56957 complete cds, highly similar to Transmembrane protein 16C.
JD443853 - Sequence 424877 from Patent EP1572962.
JD211972 - Sequence 192996 from Patent EP1572962.
JD223577 - Sequence 204601 from Patent EP1572962.
JD394611 - Sequence 375635 from Patent EP1572962.
JD398223 - Sequence 379247 from Patent EP1572962.
JD057334 - Sequence 38358 from Patent EP1572962.
AK295658 - Homo sapiens cDNA FLJ56973 complete cds, highly similar to Transmembrane protein 16C.
JD510086 - Sequence 491110 from Patent EP1572962.
JD564059 - Sequence 545083 from Patent EP1572962.
JD430765 - Sequence 411789 from Patent EP1572962.
JD468751 - Sequence 449775 from Patent EP1572962.
JD063940 - Sequence 44964 from Patent EP1572962.
JD331562 - Sequence 312586 from Patent EP1572962.
JD261915 - Sequence 242939 from Patent EP1572962.
JD433008 - Sequence 414032 from Patent EP1572962.
JD285853 - Sequence 266877 from Patent EP1572962.
JD400821 - Sequence 381845 from Patent EP1572962.
JD323547 - Sequence 304571 from Patent EP1572962.
JD260142 - Sequence 241166 from Patent EP1572962.
JD046946 - Sequence 27970 from Patent EP1572962.
JD180403 - Sequence 161427 from Patent EP1572962.
JD344767 - Sequence 325791 from Patent EP1572962.
JD167756 - Sequence 148780 from Patent EP1572962.
JD268664 - Sequence 249688 from Patent EP1572962.
JD359968 - Sequence 340992 from Patent EP1572962.
JD303306 - Sequence 284330 from Patent EP1572962.
JD304756 - Sequence 285780 from Patent EP1572962.
X81896 - H.sapiens GENX-3947 mRNA, 3' UTR.
JD561892 - Sequence 542916 from Patent EP1572962.
JD241429 - Sequence 222453 from Patent EP1572962.
JD327543 - Sequence 308567 from Patent EP1572962.
JD076713 - Sequence 57737 from Patent EP1572962.
JD216977 - Sequence 198001 from Patent EP1572962.
JD099777 - Sequence 80801 from Patent EP1572962.
JD304501 - Sequence 285525 from Patent EP1572962.
JD469669 - Sequence 450693 from Patent EP1572962.
JD233123 - Sequence 214147 from Patent EP1572962.
JD224063 - Sequence 205087 from Patent EP1572962.
JD092985 - Sequence 74009 from Patent EP1572962.
JD088733 - Sequence 69757 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BYT9 (Reactome details) participates in the following event(s):

R-HSA-2684901 ANOs transport cytosolic Cl- to extracellular region
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ANO3_HUMAN, C11orf25, GENX-3947, NM_031418, NP_113606, Q9BYT9, TMEM16C
UCSC ID: uc001mqt.4
RefSeq Accession: NM_031418
Protein: Q9BYT9 (aka ANO3_HUMAN)
CCDS: CCDS31447.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_031418.2
exon count: 27CDS single in 3' UTR: no RNA size: 5936
ORF size: 2946CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6092.00frame 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: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# 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.