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Aliases for ANO3 Gene

Aliases for ANO3 Gene

  • Anoctamin 3 2 3
  • Transmembrane Protein 16C (Eight Membrane-Spanning Domains) 2 3
  • Transmembrane Protein 16C 2 4
  • C11orf25 3 4
  • TMEM16C 3 4
  • Chromosome 11 Open Reading Frame 25 2
  • GENX-3947 3
  • DYT23 3
  • DYT24 3

External Ids for ANO3 Gene

Previous HGNC Symbols for ANO3 Gene

  • C11orf25
  • TMEM16C

Previous GeneCards Identifiers for ANO3 Gene

  • GC11P026310
  • GC11P026049

Summaries for ANO3 Gene

Entrez Gene Summary for ANO3 Gene

  • 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]

GeneCards Summary for ANO3 Gene

ANO3 (Anoctamin 3) is a Protein Coding gene. Diseases associated with ANO3 include cranio-cervical dystonia with laryngeal and upper-limb involvement and dystonia 24. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include intracellular calcium activated chloride channel activity and phospholipid scramblase activity. An important paralog of this gene is ANO5.

UniProtKB/Swiss-Prot for ANO3 Gene

  • Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANO3 Gene

Genomics for ANO3 Gene

Regulatory Elements for ANO3 Gene

Genomic Location for ANO3 Gene

Chromosome:
11
Start:
26,188,821 bp from pter
End:
26,668,409 bp from pter
Size:
479,589 bases
Orientation:
Plus strand

Genomic View for ANO3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANO3 Gene

Proteins for ANO3 Gene

  • Protein details for ANO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYT9-ANO3_HUMAN
    Recommended name:
    Anoctamin-3
    Protein Accession:
    Q9BYT9
    Secondary Accessions:
    • B7Z3F5

    Protein attributes for ANO3 Gene

    Size:
    981 amino acids
    Molecular mass:
    114657 Da
    Quaternary structure:
    • Interacts with KCNT1/Slack.
    Miscellaneous:
    • The term anoctamin was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology

    Alternative splice isoforms for ANO3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANO3 Gene

Proteomics data for ANO3 Gene at MOPED

Post-translational modifications for ANO3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANO3 Gene

No data available for DME Specific Peptides for ANO3 Gene

Domains & Families for ANO3 Gene

Gene Families for ANO3 Gene

Protein Domains for ANO3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BYT9

UniProtKB/Swiss-Prot:

ANO3_HUMAN :
  • Belongs to the anoctamin family.
Family:
  • Belongs to the anoctamin family.
genes like me logo Genes that share domains with ANO3: view

Function for ANO3 Gene

Molecular function for ANO3 Gene

UniProtKB/Swiss-Prot Function:
Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity.

Gene Ontology (GO) - Molecular Function for ANO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005229 NOT intracellular calcium activated chloride channel activity IDA 21984732
GO:0017128 phospholipid scramblase activity IEA --
genes like me logo Genes that share ontologies with ANO3: view
genes like me logo Genes that share phenotypes with ANO3: view

miRNA for ANO3 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANO3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ANO3 Gene

Localization for ANO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANO3 Gene

Cell membrane; Multi-pass membrane protein. Note=Shows an intracellular localization. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANO3 Gene COMPARTMENTS Subcellular localization image for ANO3 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for ANO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ANO3: view

Pathways & Interactions for ANO3 Gene

genes like me logo Genes that share pathways with ANO3: view

Pathways by source for ANO3 Gene

Interacting Proteins for ANO3 Gene

Gene Ontology (GO) - Biological Process for ANO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0016048 detection of temperature stimulus IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0050982 detection of mechanical stimulus IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with ANO3: view

No data available for SIGNOR curated interactions for ANO3 Gene

Drugs & Compounds for ANO3 Gene

(1) Drugs for ANO3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0

(1) Additional Compounds for ANO3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with ANO3: view

Transcripts for ANO3 Gene

mRNA/cDNA for ANO3 Gene

(5) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANO3 Gene

Anoctamin 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANO3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANO3 Gene

No ASD Table

Relevant External Links for ANO3 Gene

GeneLoc Exon Structure for
ANO3
ECgene alternative splicing isoforms for
ANO3

Expression for ANO3 Gene

mRNA expression in normal human tissues for ANO3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANO3 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x16.0), Brain - Caudate (basal ganglia) (x15.3), and Brain - Nucleus accumbens (basal ganglia) (x11.4).

Protein differential expression in normal tissues from HIPED for ANO3 Gene

This gene is overexpressed in Stomach (57.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANO3 Gene



SOURCE GeneReport for Unigene cluster for ANO3 Gene Hs.91791

mRNA Expression by UniProt/SwissProt for ANO3 Gene

Q9BYT9-ANO3_HUMAN
Tissue specificity: Highly expressed in the forebrain striatum.
genes like me logo Genes that share expression patterns with ANO3: view

Protein tissue co-expression partners for ANO3 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

Orthologs for ANO3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANO3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ANO3 35
  • 91.68 (n)
  • 93.68 (a)
ANO3 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANO3 35
  • 91.26 (n)
  • 93.57 (a)
ANO3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ano3 35
  • 89.19 (n)
  • 93.68 (a)
Ano3 16
Ano3 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANO3 35
  • 99.66 (n)
  • 100 (a)
ANO3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ano3 35
  • 89.44 (n)
  • 93.93 (a)
oppossum
(Monodelphis domestica)
Mammalia ANO3 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANO3 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANO3 35
  • 75.15 (n)
  • 77.3 (a)
ANO3 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANO3 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ano3 35
  • 72.15 (n)
  • 76.31 (a)
Str.2041 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.18778 35
zebrafish
(Danio rerio)
Actinopterygii ano3 35
  • 67.57 (n)
  • 72.36 (a)
ano3 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6938 36
  • 30 (a)
OneToMany
Species with no ortholog for ANO3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANO3 Gene

ENSEMBL:
Gene Tree for ANO3 (if available)
TreeFam:
Gene Tree for ANO3 (if available)

Paralogs for ANO3 Gene

Paralogs for ANO3 Gene

(7) SIMAP similar genes for ANO3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ANO3: view

Variants for ANO3 Gene

Sequence variations from dbSNP and Humsavar for ANO3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1903455 -- 26,339,913(-) ATAGC(A/T)GTTGC intron-variant
rs1903456 -- 26,262,741(-) tctct(C/G)tgtgt intron-variant
rs1903457 -- 26,257,209(-) TGCTT(C/G)TGTAT intron-variant
rs1903454 -- 26,367,127(-) aacat(A/T)taagt intron-variant
rs1903453 -- 26,313,511(-) GACAG(C/G)GTTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANO3 Gene

Variant ID Type Subtype PubMed ID
esv2422406 CNV Deletion 17116639
esv2744278 CNV Deletion 23290073
esv2744279 CNV Deletion 23290073
esv2744280 CNV Deletion 23290073
esv2744281 CNV Deletion 23290073
esv997110 CNV Deletion 20482838
esv1378455 CNV Insertion 17803354
nsv38806 CNV Loss 16902084
nsv467778 CNV Loss 19166990
nsv521916 CNV Loss 19592680
esv2744282 CNV Deletion 23290073
esv1774662 CNV Deletion 17803354
esv270788 CNV Insertion 20981092
esv274280 CNV Insertion 20981092
esv28385 CNV Gain 19812545
esv259832 OTHER Complex 20981092
nsv522526 CNV Gain 19592680
esv28858 CNV Gain 19812545
nsv897141 CNV Loss 21882294
nsv467779 CNV Loss 19166990
esv275492 CNV Gain+Loss 21479260
esv2744283 CNV Deletion 23290073
esv1978126 CNV Deletion 18987734
esv2744284 CNV Deletion 23290073

Variation tolerance for ANO3 Gene

Residual Variation Intolerance Score: 3.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANO3 Gene

HapMap Linkage Disequilibrium report
ANO3
Human Gene Mutation Database (HGMD)
ANO3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANO3 Gene

Disorders for ANO3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ANO3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cranio-cervical dystonia with laryngeal and upper-limb involvement
  • dystonia 24
dystonia 24
  • dystonia-24
dystonia 23
  • dyt23
spasmodic dystonia
  • laryngeal dystonia
mohr-tranebjaerg syndrome
  • deafness dystonia syndrome
- elite association
Search ANO3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANO3_HUMAN
  • Dystonia 24 (DYT24) [MIM:615034]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs. {ECO:0000269 PubMed:23200863}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ANO3

Genetic Association Database (GAD)
ANO3
Human Genome Epidemiology (HuGE) Navigator
ANO3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANO3
genes like me logo Genes that share disorders with ANO3: view

No data available for Genatlas for ANO3 Gene

Publications for ANO3 Gene

  1. FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products. (PMID: 12739008) Katoh M. … Katoh M. (Int. J. Oncol. 2003) 2 23 67
  2. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N. … Galietta L.J. (Physiol. Rev. 2014) 2 67
  3. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. (PMID: 23200863) Charlesworth G. … Wood N.W. (Am. J. Hum. Genet. 2012) 2 67
  4. Identification and characterization of TMEM16H gene in silico. (PMID: 15647853) Katoh M. … Katoh M. (Int. J. Mol. Med. 2005) 23 67
  5. Identification and characterization of TMEM16E and TMEM16F genes in silico. (PMID: 15067359) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 67

Products for ANO3 Gene

Sources for ANO3 Gene

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