• Gene id: 57101

Gene Summary

• Gene Symbol: ANO2   Gene   UCSC   Ensembl
• Aliases: C12orf3, TMEM16B
• Gene name: anoctamin 2
• Alternate names: anoctamin-2, anoctamin 2, calcium activated chloride channel, transmembrane protein 16B (eight membrane-spanning domains),
• Gene location: 12p13.31 (5948789: 5560240)     Exons: 39     NC_000012.12
• Gene summary(Entrez): ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]

Protein Summary

• Protein general information: Q9NQ90  
  • Name: Anoctamin 2 (Transmembrane protein 16B)
  • Length: 1003  
  • Mass: 113969
  • Tissue specificity: Retina, especially in the photoreceptor synaptic terminals. {ECO
• Sequence:

  MATPGPRDIPLLPGSPRRLSPQAGSRGGQGPKHGQQCLKMPGPRAPGLQGGSNRDPGQPCGGESTRSSSVINNYL
  DANEPVSLEARLSRMHFHDSQRKVDYVLAYHYRKRGVHLAQGFPGHSLAIVSNGETGKEPHAGGPGDIELGPLDA
  LEEERKEQREEFEHNLMEAGLELEKDLENKSQGSIFVRIHAPWQVLAREAEFLKIKVPTKKEMYEIKAGGSIAKK
  FSAALQKLSSHLQPRVPEHSNNKMKNLSYPFSREKMYLYNIQEKDTFFDNATRSRIVHEILKRTACSRANNTMGI
  NSLIANNIYEAAYPLHDGEYDSPEDDMNDRKLLYQEWARYGVFYKFQPIDLIRKYFGEKIGLYFAWLGLYTSFLI
  PSSVIGVIVFLYGCATIEEDIPSREMCDQQNAFTMCPLCDKSCDYWNLSSACGTAQASHLFDNPATVFFSIFMAL
  WATMFLENWKRLQMRLGYFWDLTGIEEEEERAQEHSRPEYETKVREKMLKESNQSAVQKLETNTTECGDEDDEDK
  LTWKDRFPGYLMNFASILFMIALTFSIVFGVIVYRITTAAALSLNKATRSNVRVTVTATAVIINLVVILILDEIY
  GAVAKWLTKIEVPKTEQTFEERLILKAFLLKFVNAYSPIFYVAFFKGRFVGRPGSYVYVFDGYRMEECAPGGCLM
  ELCIQLSIIMLGKQLIQNNIFEIGVPKLKKLFRKLKDETEAGETDSAHSKHPEQWDLDYSLEPYTGLTPEYMEMI
  IQFGFVTLFVASFPLAPVFALLNNVIEVRLDAKKFVTELRRPDAVRTKDIGIWFDILSGIGKFSVISNAFVIAIT
  SDFIPRLVYQYSYSHNGTLHGFVNHTLSFFNVSQLKEGTQPENSQFDQEVQFCRFKDYREPPWAPNPYEFSKQYW
  FILSARLAFVIIFQNLVMFLSVLVDWMIPDIPTDISDQIKKEKSLLVDFFLKEEHEKLKLMDEPALRSPGGGDRS
  RSRAASSAPSGQSQLGSMMSSGSQHTNV

• Structural information:
  • Interpro: IPR032394  IPR007632  IPR031288  
  • STRING: ENSP00000348453
• Other Databases: GeneCards:  ANO2  Malacards:  ANO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:0055085	transmembrane transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005254	chloride channel activity	IBA	molecular function
GO:0005229	intracellular calcium activated chloride channel activity	IBA	molecular function
GO:0005229	intracellular calcium activated chloride channel activity	IDA	molecular function
GO:0005229	intracellular calcium activated chloride channel activity	IDA	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005229	intracellular calcium activated chloride channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005229	intracellular calcium activated chloride channel activity	IEA	molecular function
GO:0097730	non-motile cilium	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04740	Olfactory transduction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq