The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcrip... See more...

Aliases for ANO10 Gene

Aliases for ANO10 Gene

  • Anoctamin 10 2 3 5
  • Transmembrane Protein 16K 2 3 4
  • Anoctamin-10 3 4
  • TMEM16K 3 4
  • SCAR10 3

External Ids for ANO10 Gene

Previous HGNC Symbols for ANO10 Gene

  • TMEM16K

Previous GeneCards Identifiers for ANO10 Gene

  • GC03M043385

Summaries for ANO10 Gene

Entrez Gene Summary for ANO10 Gene

  • The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

GeneCards Summary for ANO10 Gene

ANO10 (Anoctamin 10) is a Protein Coding gene. Diseases associated with ANO10 include Spinocerebellar Ataxia, Autosomal Recessive 10 and Autosomal Recessive Cerebellar Ataxia. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include intracellular calcium activated chloride channel activity and calcium activated cation channel activity. An important paralog of this gene is ANO8.

UniProtKB/Swiss-Prot Summary for ANO10 Gene

  • Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1.

Additional gene information for ANO10 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANO10 Gene

Genomics for ANO10 Gene

GeneHancer (GH) Regulatory Elements for ANO10 Gene

Promoters and enhancers for ANO10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J043689 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -2.8 -2825 10.4 HNRNPK ZNF217 EP300 CTCF TCF12 NRF1 POLR2G GTF2E2 PHF8 ZFX ABHD5 ANO10 piR-48759-203 ZNF852 ZNF35 SNRK-AS1 SNRK ZNF660 ENSG00000261786 lnc-POMGNT2-1
GH03J043620 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 505.1 +69.8 69763 2.9 HNRNPK NRF1 POLR2G USF1 SP1 PHB2 ZBTB5 ZIC2 POLR2A CLOCK ANO10 ZNF445 ZNF852 SNRK-AS1 ZKSCAN7 ZNF662 piR-48222-214 piR-33422-273
GH03J043583 Enhancer 1.1 Ensembl ENCODE 7.3 +108.0 107994 4.8 CTCF ZBTB11 TOE1 MYC CTBP1 HINFP TAF9B NCOR1 RELA ZNF316 ANO10 piR-48222-214 piR-37026-419
GH03J043522 Enhancer 1.1 Ensembl ENCODE 7.1 +168.6 168593 2.4 FOS ZNF639 ZIC2 ZBTB10 TRIM28 TOE1 MYC CTBP1 JUN ATF2 ANO10 SNRK-AS1 piR-55284-005 piR-32461-105
GH03J043476 Enhancer 1 FANTOM5 ENCODE dbSUPER 7.1 +214.0 213999 2.8 RBM25 NR2F2 BCOR JUN ZMYM3 CHD7 ESRRA POLR2A NANOG EZH2 ANO10 SNRK ENSG00000251811 piR-56186-040
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANO10 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANO10

Top Transcription factor binding sites by QIAGEN in the ANO10 gene promoter:
  • c-Rel
  • C/EBPalpha
  • Evi-1
  • FOXF2
  • GCNF
  • GCNF-1
  • GCNF-2
  • LCR-F1
  • Pbx1a
  • Sox9

Genomic Locations for ANO10 Gene

Genomic Locations for ANO10 Gene
chr3:43,354,859-43,691,594
(GRCh38/hg38)
Size:
336,736 bases
Orientation:
Minus strand
chr3:43,396,351-43,733,086
(GRCh37/hg19)
Size:
336,736 bases
Orientation:
Minus strand

Genomic View for ANO10 Gene

Genes around ANO10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANO10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANO10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANO10 Gene

Proteins for ANO10 Gene

  • Protein details for ANO10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NW15-ANO10_HUMAN
    Recommended name:
    Anoctamin-10
    Protein Accession:
    Q9NW15
    Secondary Accessions:
    • A8K8K3
    • A8MV74
    • B3KTZ1
    • B3KY93
    • B4DJ83
    • B4DNK2
    • B7WP12
    • C9JHS1
    • Q8IXX9

    Protein attributes for ANO10 Gene

    Size:
    660 amino acids
    Molecular mass:
    76329 Da
    Quaternary structure:
    No Data Available
    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.
    SequenceCaution:
    • Sequence=BAA91573.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=BC038855; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANO10 Gene

    Alternative splice isoforms for ANO10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANO10 Gene

Post-translational modifications for ANO10 Gene

  • Ubiquitination at Lys193
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANO10 Gene

Domains & Families for ANO10 Gene

Gene Families for ANO10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ANO10 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANO10 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 16K (ANO10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NW15

UniProtKB/Swiss-Prot:

ANO10_HUMAN :
  • Belongs to the anoctamin family.
Family:
  • Belongs to the anoctamin family.
genes like me logo Genes that share domains with ANO10: view

Function for ANO10 Gene

Molecular function for ANO10 Gene

UniProtKB/Swiss-Prot Function:
Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1.

Phenotypes From GWAS Catalog for ANO10 Gene

Gene Ontology (GO) - Molecular Function for ANO10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005227 calcium activated cation channel activity IDA 22946059
GO:0005229 NOT intracellular calcium activated chloride channel activity IDA 21984732
genes like me logo Genes that share ontologies with ANO10: view
genes like me logo Genes that share phenotypes with ANO10: view

Human Phenotype Ontology for ANO10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ANO10 Gene

MGI Knock Outs for ANO10:
  • Ano10 Ano10<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for ANO10 Gene

miRTarBase miRNAs that target ANO10

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANO10

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ANO10 Gene

Localization for ANO10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANO10 Gene

Cell membrane; Multi-pass membrane protein. Note=Shows predominantly an intracellular localization with a weak expression in the cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANO10 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANO10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ANO10: view

Pathways & Interactions for ANO10 Gene

genes like me logo Genes that share pathways with ANO10: view

Pathways by source for ANO10 Gene

Gene Ontology (GO) - Biological Process for ANO10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006812 cation transport IDA 22946059
GO:0006821 chloride transport IDA 22946059
GO:0034220 ion transmembrane transport TAS --
GO:0098655 cation transmembrane transport IEA --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with ANO10: view

No data available for SIGNOR curated interactions for ANO10 Gene

Drugs & Compounds for ANO10 Gene

(2) Drugs for ANO10 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Chloride ion Experimental Pharma 0
genes like me logo Genes that share compounds with ANO10: view

Transcripts for ANO10 Gene

mRNA/cDNA for ANO10 Gene

12 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANO10

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANO10 Gene

No ASD Table

Relevant External Links for ANO10 Gene

GeneLoc Exon Structure for
ANO10

Expression for ANO10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANO10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANO10 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.2) and Adrenal (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANO10 Gene



Protein tissue co-expression partners for ANO10 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANO10

SOURCE GeneReport for Unigene cluster for ANO10 Gene:

Hs.656657

mRNA Expression by UniProt/SwissProt for ANO10 Gene:

Q9NW15-ANO10_HUMAN
Tissue specificity: Highly expressed in the brain. Intermediate levels in the retina and heart and low levels in the placenta, liver, lung, duodenum, kidney, testis and spleen. In brain areas, highest expression in the frontal and occipital cortices and in the cerebellum. Lower expression in the fetal brain than in the adult brain.

Evidence on tissue expression from TISSUES for ANO10 Gene

  • Nervous system(4.8)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANO10 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ANO10: view

No data available for mRNA differential expression in normal tissues for ANO10 Gene

Orthologs for ANO10 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ANO10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANO10 31 30
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANO10 31 30
  • 91.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANO10 31 30
  • 90.09 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ano10 30
  • 85.2 (n)
mouse
(Mus musculus)
Mammalia Ano10 17 31 30
  • 85.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ANO10 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANO10 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANO10 31 30
  • 74.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANO10 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ano10 30
  • 68.88 (n)
zebrafish
(Danio rerio)
Actinopterygii ano10a 31 30
  • 65.79 (n)
OneToOne
wufc37b04 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009776 30
  • 49.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta Axs 31 30
  • 48.54 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IST2 33
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G73020 30
  • 44.85 (n)
rice
(Oryza sativa)
Liliopsida Os01g0706700 30
  • 44.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToOne
Species where no ortholog for ANO10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANO10 Gene

ENSEMBL:
Gene Tree for ANO10 (if available)
TreeFam:
Gene Tree for ANO10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANO10: view image

Paralogs for ANO10 Gene

Paralogs for ANO10 Gene

Pseudogenes.org Pseudogenes for ANO10 Gene

genes like me logo Genes that share paralogs with ANO10: view

Variants for ANO10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANO10 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
666355 Likely Pathogenic: Spinocerebellar ataxia, autosomal recessive 10 43,555,409(-) A/G MISSENSE_VARIANT
719010 Benign: not provided 43,577,012(-) A/G MISSENSE_VARIANT,INTRON_VARIANT
719592 Likely Benign: not provided 43,576,999(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
724877 Likely Benign: not provided 43,577,055(-) T/C MISSENSE_VARIANT,INTRON_VARIANT
727462 Likely Benign: not provided 43,576,876(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ANO10 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANO10 Gene

Variant ID Type Subtype PubMed ID
dgv804n67 CNV loss 20364138
esv1011105 CNV insertion 20482838
esv1480257 CNV insertion 17803354
esv2525562 CNV insertion 19546169
esv2763720 CNV loss 21179565
esv3374423 CNV insertion 20981092
esv3434287 CNV insertion 20981092
esv3568715 CNV loss 25503493
esv3596012 CNV loss 21293372
esv3596013 CNV loss 21293372
esv3596014 CNV loss 21293372
esv3596015 CNV loss 21293372
esv3596016 CNV gain 21293372
esv3596018 CNV loss 21293372
esv5543 OTHER inversion 19470904
nsv820135 CNV loss 19587683
nsv822070 CNV loss 20364138
nsv834673 CNV gain 17160897
nsv963314 CNV duplication 23825009

Variation tolerance for ANO10 Gene

Residual Variation Intolerance Score: 85.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.87; 74.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANO10 Gene

Human Gene Mutation Database (HGMD)
ANO10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANO10

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANO10 Gene

Disorders for ANO10 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ANO10 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ANO10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANO10_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10) [MIM:613728]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. {ECO:0000269 PubMed:21092923}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ANO10

genes like me logo Genes that share disorders with ANO10: view

No data available for Genatlas for ANO10 Gene

Publications for ANO10 Gene

  1. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N … Galietta LJ (Physiological reviews 2014) 2 3 54
  2. ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins. (PMID: 22075693) Duran C … Hartzell HC (American journal of physiology. Cell physiology 2012) 3 4 54
  3. Anoctamins are a family of Ca2+-activated Cl- channels. (PMID: 22946059) Tian Y … Kunzelmann K (Journal of cell science 2012) 3 4 54
  4. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. (PMID: 21984732) Scudieri P … Galietta LJ (Experimental physiology 2012) 3 4 54
  5. Anoctamins. (PMID: 21607626) Kunzelmann K … Schreiber R (Pflugers Archiv : European journal of physiology 2011) 3 4 54

Products for ANO10 Gene

Sources for ANO10 Gene