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    ANO2 anoctamin 2 [ Homo sapiens (human) ]

    Gene ID: 57101, updated on 21-Jul-2018

    Summary

    Official Symbol
    ANO2provided by HGNC
    Official Full Name
    anoctamin 2provided by HGNC
    Primary source
    HGNC:HGNC:1183
    See related
    Ensembl:ENSG00000047617 MIM:610109; Vega:OTTHUMG00000168264
    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

    Genomic context

    See ANO2 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (5560241..5948790, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (5671817..6055398, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369618 Neighboring gene neurotrophin 3 Neighboring gene dynein light chain roadblock-type 1 pseudogene Neighboring gene meiotic recombination hotspot F Neighboring gene meiotic recombination hotspot 12D Neighboring gene uncharacterized LOC105369621 Neighboring gene von Willebrand factor Neighboring gene small nucleolar RNA, H/ACA box 120 Neighboring gene RNA, 7SL, cytoplasmic 69, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Olfactory transduction, organism-specific biosystem (from KEGG)
      Olfactory transduction, organism-specific biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
    • Olfactory transduction, conserved biosystem (from KEGG)
      Olfactory transduction, conserved biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
    • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
      Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp434P102

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    intracellular calcium activated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular calcium activated chloride channel activity TAS
    Traceable Author Statement
    more info
     
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    non-motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_033827.1 

      Range
      501..384082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278596.2NP_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
      UniProtKB/Swiss-Prot
      Q9NQ90
      UniProtKB/TrEMBL
      F1T0L7
      Related
      ENSP00000440981.2, ENST00000546188.5
      Conserved Domains (2) summary
      pfam04547
      Location:352943
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:91349
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    2. NM_001278597.2NP_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, OTTHUMP00000238430, ENST00000356134.9
      Conserved Domains (2) summary
      pfam04547
      Location:348939
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:87345
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    3. NM_001364791.1NP_001351720.1  anoctamin-2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC006431, AC006560, AC137627
      Conserved Domains (3) summary
      COG3428
      Location:487605
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:351937
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:165348
      Anoct_dimer; Dimerisation domain of Ca+-activated chloride-channel, anoctamin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      5560241..5948790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520975.2XP_011519277.1  anoctamin-2 isoform X2

      See identical proteins and their annotated locations for XP_011519277.1

      Conserved Domains (2) summary
      pfam04547
      Location:347934
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:87344
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    2. XM_006718988.4XP_006719051.1  anoctamin-2 isoform X1

      Conserved Domains (3) summary
      COG3428
      Location:487605
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:351937
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:165348
      Anoct_dimer; Dimerisation domain of Ca+-activated chloride-channel, anoctamin
    3. XM_024449073.1XP_024304841.1  anoctamin-2 isoform X3

      Conserved Domains (3) summary
      COG3428
      Location:448566
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:312898
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:126309
      Anoct_dimer; Dimerisation domain of Ca+-activated chloride-channel, anoctamin
    4. XM_011520978.3XP_011519280.1  anoctamin-2 isoform X5

      Conserved Domains (2) summary
      pfam04547
      Location:140727
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:3137
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    5. XM_024449078.1XP_024304846.1  anoctamin-2 isoform X9

      Conserved Domains (2) summary
      COG3428
      Location:48166
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:110498
      Anoctamin; Calcium-activated chloride channel
    6. XM_024449075.1XP_024304843.1  anoctamin-2 isoform X7

      Conserved Domains (2) summary
      COG3428
      Location:88206
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:35538
      Anoctamin; Calcium-activated chloride channel
    7. XM_024449074.1XP_024304842.1  anoctamin-2 isoform X6

      Conserved Domains (2) summary
      COG3428
      Location:92210
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:39542
      Anoctamin; Calcium-activated chloride channel
    8. XM_024449076.1XP_024304844.1  anoctamin-2 isoform X7

      Conserved Domains (2) summary
      COG3428
      Location:88206
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:35538
      Anoctamin; Calcium-activated chloride channel
    9. XM_024449077.1XP_024304845.1  anoctamin-2 isoform X8

      Conserved Domains (2) summary
      COG3428
      Location:78196
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:140528
      Anoctamin; Calcium-activated chloride channel
    10. XM_024449080.1XP_024304848.1  anoctamin-2 isoform X11

      Conserved Domains (2) summary
      COG3428
      Location:35153
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:97485
      Anoctamin; Calcium-activated chloride channel
    11. XM_024449079.1XP_024304847.1  anoctamin-2 isoform X10

      Conserved Domains (2) summary
      COG3428
      Location:42160
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:104492
      Anoctamin; Calcium-activated chloride channel
    12. XM_024449081.1XP_024304849.1  anoctamin-2 isoform X11

      Conserved Domains (2) summary
      COG3428
      Location:35153
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:97485
      Anoctamin; Calcium-activated chloride channel
    13. XM_024449082.1XP_024304850.1  anoctamin-2 isoform X11

      Conserved Domains (2) summary
      COG3428
      Location:35153
      YdbT; Uncharacterized membrane protein YdbT, contains bPH2 (bacterial pleckstrin homology) domain [Function unknown]
      pfam04547
      Location:97485
      Anoctamin; Calcium-activated chloride channel
    14. XM_017019672.2XP_016875161.1  anoctamin-2 isoform X4

    RNA

    1. XR_931519.2 RNA Sequence

    2. XR_002957363.1 RNA Sequence

    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.
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