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    ANO2 anoctamin 2 [ Homo sapiens (human) ]

    Gene ID: 57101, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANO2provided by HGNC
    Official Full Name
    anoctamin 2provided by HGNC
    Primary source
    HGNC:HGNC:1183
    See related
    Ensembl:ENSG00000047617 MIM:610109; AllianceGenome:HGNC:1183
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C12orf3; TMEM16B
    Summary
    ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ANO2 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (5562655..5946232, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (5569523..5953779, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (5671821..6055398, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:5542091-5542616 Neighboring gene uncharacterized LOC124902865 Neighboring gene neurotrophin 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:5618629-5619828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:5626075-5626631 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:5629720-5630919 Neighboring gene OCT4 hESC enhancer GRCh37_chr12:5681388-5681889 Neighboring gene dynein light chain roadblock-type 1 pseudogene Neighboring gene meiotic recombination hotspot F Neighboring gene MPRA-validated peak1541 silencer Neighboring gene meiotic recombination hotspot 12D Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:5916007-5917206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:5921895-5922394 Neighboring gene NANOG hESC enhancer GRCh37_chr12:5927975-5928488 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:5936424-5937202 Neighboring gene uncharacterized LOC105369621 Neighboring gene MPRA-validated peak1543 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6017201-6017701 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6030281-6030782 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:6040249-6041448 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:6075167-6075353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6076959-6077460 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6078733-6079346 Neighboring gene Sharpr-MPRA regulatory region 15487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6127715-6128214 Neighboring gene von Willebrand factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6167267-6167774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6167775-6168282 Neighboring gene Sharpr-MPRA regulatory region 3083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4156 Neighboring gene small nucleolar RNA, H/ACA box 120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6192008-6192754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6192755-6193499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6202408-6203004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6203005-6203600 Neighboring gene RNA, 7SL, cytoplasmic 69, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2. Cenedese V, et al. PLoS One, 2015. PMID 25635880, Free PMC Article
    2. Anoctamin 2 identified as an autoimmune target in multiple sclerosis. Ayoglu B, et al. Proc Natl Acad Sci U S A, 2016 Feb 23. PMID 26862169, Free PMC Article
    3. Permeation Mechanisms in the TMEM16B Calcium-Activated Chloride Channels. Pifferi S. PLoS One, 2017. PMID 28046119, Free PMC Article
    4. A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3. Schneppenheim R, et al. J Thromb Haemost, 2007 Apr. PMID 17371490
    5. Modulation of TMEM16B channel activity by the calcium-activated chloride channel regulator 4 (CLCA4) in human cells. Sala-Rabanal M, et al. J Biol Chem, 2024 Jul. PMID 38825009, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Modulation of TMEM16B channel activity by the calcium-activated chloride channel regulator 4 (CLCA4) in human cells.
      Title: Modulation of TMEM16B channel activity by the calcium-activated chloride channel regulator 4 (CLCA4) in human cells.
    2. Anoctamin 2-chloride channels reduce simple spike activity and mediate inhibition at elevated calcium concentration in cerebellar Purkinje cells.
      Title: Anoctamin 2-chloride channels reduce simple spike activity and mediate inhibition at elevated calcium concentration in cerebellar Purkinje cells.
    3. a hypothesis where immune reactivity toward EBNA1 through molecular mimicry with ANO2 contributes to the etiopathogenesis of Multiple sclerosis.
      Title: Molecular mimicry between Anoctamin 2 and Epstein-Barr virus nuclear antigen 1 associates with multiple sclerosis risk.
    4. residues facing the putative channel pore are responsible both for controlling the ion selectivity and the gating of the channel, providing an initial understanding of molecular mechanism of ion permeation in TMEM16B
      Title: Permeation Mechanisms in the TMEM16B Calcium-Activated Chloride Channels.
    5. data revealed prominently increased autoantibody reactivity against the chloride-channel protein anoctamin 2 (ANO2) in multiple sclerosis cases compared with controls
      Title: Anoctamin 2 identified as an autoimmune target in multiple sclerosis.
    6. Olfactory function impairment in Italian patients with type 3 von Willebrand disease with partial deletion of TMEM16B.
      Title: Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2.
    7. results reveal multidimensional regulation of TMEM16A/16B by preassociated apoCaM and introduce ChIMP as a versatile tool to probe the macromolecular complex and function of Ca(2+)-activated chloride channels
      Title: Preassociated apocalmodulin mediates Ca2+-dependent sensitization of activation and inactivation of TMEM16A/16B Ca2+-gated Cl- channels.
    8. ANO2 is present in human myometrium.
      Title: Calcium-activated chloride channels anoctamin 1 and 2 promote murine uterine smooth muscle contractility.
    9. The third intracellular loop of TMEM16B is the site involved in calcium ion sensitivity, whereas the C-terminal part affects the rate of transition between the open and the closed state of the channel.
      Title: TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of panic disorder in the Japanese population.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434P102

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chloride channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables intracellularly calcium-gated chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables intracellularly calcium-gated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    anoctamin-2
    Names
    anoctamin 2, calcium activated chloride channel
    transmembrane protein 16B (eight membrane-spanning domains)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001278596.3 → NP_001265525.1  anoctamin-2 isoform 1

      See identical proteins and their annotated locations for NP_001265525.1

      Status: VALIDATED

      Source sequence(s)
      AB593159, AC006431, AK024010, BE645295, FJ384095
      Consensus CDS
      CCDS91643.1
      UniProtKB/Swiss-Prot
      C4N787, Q9H847, Q9NQ90
      Related
      ENSP00000498903.1, ENST00000650848.1
      Conserved Domains (2) summary
      pfam04547
      Location:352 → 943
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:91 → 349
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    2. NM_001278597.3 → NP_001265526.1  anoctamin-2 isoform 2

      See identical proteins and their annotated locations for NP_001265526.1

      Status: VALIDATED

      Source sequence(s)
      AC006431, AC006560, AC137627
      Consensus CDS
      CCDS44807.2
      UniProtKB/Swiss-Prot
      Q9NQ90
      Related
      ENSP00000348453.5, ENST00000356134.9
      Conserved Domains (2) summary
      pfam04547
      Location:348 → 939
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:87 → 345
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    3. NM_001364791.2 → NP_001351720.1  anoctamin-2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC006431, AC006560, AC137627
      Consensus CDS
      CCDS91642.1
      UniProtKB/TrEMBL
      A0A804HIY3
      Related
      ENSP00000507275.1, ENST00000682330.1
      Conserved Domains (3) summary
      COG3428
      Location:487 → 605
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:351 → 937
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:165 → 348
      Anoct_dimer; Dimerisation domain of Ca+-activated chloride-channel, anoctamin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      5562655..5946232 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      5569523..5953779 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020373.2: Suppressed sequence

      Description
      NM_020373.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQ90.2 GenPept UniProtKB/Swiss-Prot:Q9NQ90

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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