Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ANO2 Gene

Aliases for ANO2 Gene

  • Anoctamin 2 2 3 5
  • Transmembrane Protein 16B (Eight Membrane-Spanning Domains) 2 3
  • Anoctamin 2, Calcium Activated Chloride Channel 2 3
  • Transmembrane Protein 16B 2 4
  • C12orf3 3 4
  • TMEM16B 3 4
  • Chromosome 12 Open Reading Frame 3 2
  • Anoctamin-2 3

External Ids for ANO2 Gene

Previous HGNC Symbols for ANO2 Gene

  • C12orf3
  • TMEM16B

Previous GeneCards Identifiers for ANO2 Gene

  • GC12M005671

Summaries for ANO2 Gene

Entrez Gene Summary for ANO2 Gene

  • ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]

GeneCards Summary for ANO2 Gene

ANO2 (Anoctamin 2) is a Protein Coding gene. Diseases associated with ANO2 include Von Willebrand's Disease and Von Willebrand Disease, Type 3. 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. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and intracellular calcium activated chloride channel activity. An important paralog of this gene is ANO1.

UniProtKB/Swiss-Prot for ANO2 Gene

  • Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor-sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina.

Additional gene information for ANO2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANO2 Gene

Genomics for ANO2 Gene

GeneHancer (GH) Regulatory Elements for ANO2 Gene

Promoters and enhancers for ANO2 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
GH12J005944 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 659.3 +3.5 3482 0.6 ZNF146 YY1 ZNF335 E2F1 GLIS2 POLR2A PATZ1 SCRT2 ZNF600 EZH2 ANO2 LOC105369621
GH12J005951 Promoter 0.5 EPDnew 655.2 -3.1 -3111 0.1 ANO2 GC12M006024 VWF
GH12J005949 Promoter 0.5 EPDnew 650.7 -1.0 -1013 0.1 ANO2 GC12M006024 VWF
GH12J005988 Enhancer 1 Ensembl ENCODE 11.1 -40.1 -40055 0.7 ELF3 RB1 ZFP64 ZNF2 RAD21 ZNF335 ZNF143 DEK SMARCA5 ZNF654 ANO2 CD9 ENSG00000247853 GC12M006024 VWF
GH12J006321 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.4 -376.3 -376302 6.5 HDGF PKNOX1 ARNT SIN3A ZNF48 YY1 ZNF121 POLR2B GLIS2 ARID2 ING4 ATN1 VAMP1 LTBR SCNN1A GNB3 TAPBPL CD27-AS1 P3H3 CD27
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANO2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANO2 gene promoter:

Genomic Locations for ANO2 Gene

Genomic Locations for ANO2 Gene
chr12:5,531,869-5,948,791
(GRCh38/hg38)
Size:
416,923 bases
Orientation:
Minus strand
chr12:5,641,035-6,055,398
(GRCh37/hg19)

Genomic View for ANO2 Gene

Genes around ANO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANO2 Gene

Proteins for ANO2 Gene

  • Protein details for ANO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ90-ANO2_HUMAN
    Recommended name:
    Anoctamin-2
    Protein Accession:
    Q9NQ90
    Secondary Accessions:
    • C4N787
    • Q9H847

    Protein attributes for ANO2 Gene

    Size:
    1003 amino acids
    Molecular mass:
    113969 Da
    Quaternary structure:
    • Component of a presynaptic protein complex recruited to specialized plasma membrane domains of photoreceptors. Interacts with DLG4 by its C-terminal region (By similarity).
    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=BAB14773.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANO2 Gene

Post-translational modifications for ANO2 Gene

  • Glycosylation at posLast=856856, posLast=849849, posLast=841841, and Asn422
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for ANO2

No data available for DME Specific Peptides for ANO2 Gene

Domains & Families for ANO2 Gene

Gene Families for ANO2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ANO2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANO2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQ90

UniProtKB/Swiss-Prot:

ANO2_HUMAN :
  • Belongs to the anoctamin family.
Family:
  • Belongs to the anoctamin family.
genes like me logo Genes that share domains with ANO2: view

Function for ANO2 Gene

Molecular function for ANO2 Gene

UniProtKB/Swiss-Prot Function:
Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor-sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina.
UniProtKB/Swiss-Prot EnzymeRegulation:
Channel activity is repressed by chloride inhibitors; strongly by niflumic acid (NFA), partially by flufenamic acid (FFA), and only slightly by meclofenamic acid (MFA), 5-Nitro-2-(3-phenylpropylamino)benzoic acid (NPPB), 4-acetamido-4-isothiocyanato-stilben-2,2-disulfonate (SITS), and 4,4-diisothiocyanatostilbene-2,2-disulfonic acid (DIDS).

Phenotypes From GWAS Catalog for ANO2 Gene

Gene Ontology (GO) - Molecular Function for ANO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005229 intracellular calcium activated chloride channel activity TAS --
GO:0005254 chloride channel activity IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0046982 protein heterodimerization activity IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with ANO2: view
genes like me logo Genes that share phenotypes with ANO2: view

Animal Models for ANO2 Gene

MGI Knock Outs for ANO2:
  • Ano2 Ano2<tm1.1Tjj>

Animal Model Products

CRISPR Products

miRNA for ANO2 Gene

miRTarBase miRNAs that target ANO2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANO2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANO2 Gene

Localization for ANO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANO2 Gene

Cell membrane; Multi-pass membrane protein.

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 ANO2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with ANO2: view

Pathways & Interactions for ANO2 Gene

genes like me logo Genes that share pathways with ANO2: view

Pathways by source for ANO2 Gene

Gene Ontology (GO) - Biological Process for ANO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0034220 ion transmembrane transport TAS --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with ANO2: view

No data available for SIGNOR curated interactions for ANO2 Gene

Drugs & Compounds for ANO2 Gene

(2) Drugs for ANO2 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
duloxetine Approved Pharma Antagonist 0
calcium Approved Nutra 0

(1) Additional Compounds for ANO2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Chloride(1-)
  • Chlorine anion
  • CL(-)
  • Bertholite
  • Chloor
16887-00-6
genes like me logo Genes that share compounds with ANO2: view

Transcripts for ANO2 Gene

Unigene Clusters for ANO2 Gene

Anoctamin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANO2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANO2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1:
SP2:
SP3: - -
SP4:

Relevant External Links for ANO2 Gene

GeneLoc Exon Structure for
ANO2
ECgene alternative splicing isoforms for
ANO2

Expression for ANO2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANO2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANO2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (33.4), Adipocyte (15.8), and Retina (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANO2 Gene



Protein tissue co-expression partners for ANO2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANO2 Gene:

ANO2

SOURCE GeneReport for Unigene cluster for ANO2 Gene:

Hs.148970

mRNA Expression by UniProt/SwissProt for ANO2 Gene:

Q9NQ90-ANO2_HUMAN
Tissue specificity: Retina, especially in the photoreceptor synaptic terminals.

Evidence on tissue expression from TISSUES for ANO2 Gene

  • Eye(4.5)
  • Nervous system(2.3)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with ANO2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANO2 Gene

Orthologs for ANO2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANO2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANO2 34 33
  • 99.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANO2 34 33
  • 90.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100361584 33
  • 88.54 (n)
oppossum
(Monodelphis domestica)
Mammalia ANO2 34
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANO2 34 33
  • 87.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ano2 16 34 33
  • 87.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANO2 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANO2 34 33
  • 72.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANO2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ano2 33
  • 67.96 (n)
Str.13490 33
zebrafish
(Danio rerio)
Actinopterygii ano2 34
  • 59 (a)
OneToMany
ANO2 (1 of 2) 34
  • 39 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000095 33
  • 52.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10353 34 33
  • 49.13 (n)
ManyToMany
CG16718 34
  • 32 (a)
ManyToMany
Species where no ortholog for ANO2 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)
  • 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 ANO2 Gene

ENSEMBL:
Gene Tree for ANO2 (if available)
TreeFam:
Gene Tree for ANO2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANO2: view image

Paralogs for ANO2 Gene

Paralogs for ANO2 Gene

(8) SIMAP similar genes for ANO2 Gene using alignment to 4 proteins:

  • ANO2_HUMAN
  • F1T0L7_HUMAN
  • F5GXT3_HUMAN
  • F5H806_HUMAN
genes like me logo Genes that share paralogs with ANO2: view

Variants for ANO2 Gene

Sequence variations from dbSNP and Humsavar for ANO2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs267607372 not-provided, uncertain-significance, not provided, not specified 5,949,041(-) A/G upstream_transcript_variant
rs368802960 uncertain-significance, von Willebrand disorder 5,949,879(-) C/T upstream_transcript_variant
rs371036946 uncertain-significance, von Willebrand disorder 5,949,091(-) G/A/C/T upstream_transcript_variant
rs61751310 pathogenic, not-provided, von Willebrand disease, type 2a, not provided 5,949,140(-) A/G upstream_transcript_variant
rs143743709 uncertain-significance, not specified 5,949,079(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ANO2 Gene

Variant ID Type Subtype PubMed ID
dgv2302n54 CNV loss 21841781
dgv2303n54 CNV loss 21841781
dgv2304n54 CNV loss 21841781
dgv2305n54 CNV gain+loss 21841781
dgv2306n54 CNV gain 21841781
dgv2307n54 CNV loss 21841781
dgv2308n54 CNV loss 21841781
dgv444e212 CNV loss 25503493
dgv445e212 CNV loss 25503493
esv1010714 CNV loss 20482838
esv1061937 CNV insertion 17803354
esv1098801 CNV insertion 17803354
esv1270499 CNV insertion 17803354
esv1647797 CNV deletion 17803354
esv22765 CNV gain+loss 19812545
esv2585557 CNV insertion 19546169
esv2668238 CNV deletion 23128226
esv2669204 CNV deletion 23128226
esv26915 CNV gain 19812545
esv2745461 CNV deletion 23290073
esv2745462 CNV deletion 23290073
esv2745464 CNV deletion 23290073
esv2745465 CNV deletion 23290073
esv2745466 CNV deletion 23290073
esv2745467 CNV deletion 23290073
esv3303349 CNV mobile element insertion 20981092
esv3303974 CNV mobile element insertion 20981092
esv3304892 CNV mobile element insertion 20981092
esv3309190 CNV mobile element insertion 20981092
esv3360820 CNV insertion 20981092
esv3387545 CNV insertion 20981092
esv3436478 CNV insertion 20981092
esv3442858 CNV insertion 20981092
esv3580088 CNV loss 25503493
esv3628388 CNV loss 21293372
esv3628389 CNV loss 21293372
esv3628393 CNV loss 21293372
esv8531 CNV loss 19470904
nsv1040098 CNV gain 25217958
nsv1070505 CNV deletion 25765185
nsv1077648 CNV insertion 25765185
nsv1134191 CNV deletion 24896259
nsv1138092 CNV deletion 24896259
nsv1140497 CNV tandem duplication 24896259
nsv1143555 CNV deletion 24896259
nsv1144606 CNV deletion 24896259
nsv1148689 CNV insertion 26484159
nsv1153495 CNV insertion 26484159
nsv468988 CNV gain 19166990
nsv470262 CNV gain 18288195
nsv507628 OTHER sequence alteration 20534489
nsv517527 CNV loss 19592680
nsv521492 CNV loss 19592680
nsv521996 CNV loss 19592680
nsv523152 CNV gain 19592680
nsv528886 CNV loss 19592680
nsv53042 CNV insertion 16902084
nsv557155 CNV gain 21841781
nsv557156 CNV loss 21841781
nsv557157 CNV gain 21841781
nsv557158 CNV loss 21841781
nsv557161 CNV gain+loss 21841781
nsv557169 CNV gain+loss 21841781
nsv557170 CNV loss 21841781
nsv557176 CNV loss 21841781
nsv557181 CNV loss 21841781
nsv826203 CNV gain 20364138
nsv973005 CNV duplication 23825009

Variation tolerance for ANO2 Gene

Gene Damage Index Score: 7.70; 83.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANO2 Gene

Human Gene Mutation Database (HGMD)
ANO2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANO2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANO2 Gene

Disorders for ANO2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ANO2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
von willebrand's disease
  • vascular hemophilia
von willebrand disease, type 3
  • vwd3
scrotal carcinoma
  • carcinoma of scrotum
urinary tract papillary transitional cell benign neoplasm
  • inverted papilloma of urinary tract
bladder papillary transitional cell neoplasm
  • urinary bladder papillary urothelial neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search ANO2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ANO2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANO2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANO2 Gene

Publications for ANO2 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 (International journal of oncology 2003) 2 3 22 58
  2. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N … Galietta LJ (Physiological reviews 2014) 2 3 58
  3. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. (PMID: 21984732) Scudieri P … Galietta LJ (Experimental physiology 2012) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Genome-wide association study of panic disorder in the Japanese population. (PMID: 19165232) Otowa T … Okazaki Y (Journal of human genetics 2009) 3 44 58

Products for ANO2 Gene

Sources for ANO2 Gene

Content
Loading form....