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ANO2 anoctamin 2 [ Homo sapiens (human) ]

Gene ID: 57101, updated on 25-Jan-2022

Summary

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
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Genomic context

See ANO2 in Genome Data Viewer
Location:
12p13.31
Exon count:
39
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (5560241..5948790, complement)
105.20201022 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 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 Sharpr-MPRA regulatory region 3083 Neighboring gene small nucleolar RNA, H/ACA box 120

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434P102

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables intracellular calcium activated chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables intracellular calcium activated chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables intracellular calcium activated chloride channel activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ion transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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

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_001278596.3NP_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
    ENSP00000498903.1, ENST00000650848.1
    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_001278597.3NP_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:348939
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:87345
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  3. NM_001364791.2NP_001351720.1  anoctamin-2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC006431, AC006560, AC137627
    Related
    ENSP00000507275.1, ENST00000682330.1
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 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_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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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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