Gene Gene information from NCBI Gene database.
Entrez ID 57101
Gene name Anoctamin 2
Gene symbol ANO2
Synonyms (NCBI Gene)
C12orf3TMEM16B
Chromosome 12
Chromosome location 12p13.31
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]
miRNA miRNA information provided by mirtarbase database.
35
miRTarBase ID miRNA Experiments Reference
MIRT029442 hsa-miR-26b-5p Microarray 19088304
MIRT785663 hsa-miR-2276 CLIP-seq
MIRT785664 hsa-miR-4286 CLIP-seq
MIRT785665 hsa-miR-4323 CLIP-seq
MIRT785666 hsa-miR-4328 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IBA
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IDA 19474308, 21984732
GO:0005254 Function Chloride channel activity IEA
GO:0005254 Function Chloride channel activity TAS
GO:0005515 Function Protein binding IPI 30126976
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610109 1183 ENSG00000047617
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQ90
Protein name Anoctamin-2 (Transmembrane protein 16B)
Protein 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 de
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16178 Anoct_dimer 91 349 Dimerisation domain of Ca+-activated chloride-channel, anoctamin Family
PF04547 Anoctamin 352 942 Calcium-activated chloride channel Family
Tissue specificity TISSUE SPECIFICITY: Retina, especially in the photoreceptor synaptic terminals. {ECO:0000269|PubMed:19474308}.
Sequence
MATPGPRDIPLLPGSPRRLSPQAGSRGGQGPKHGQQCLKMPGPRAPGLQGGSNRDPGQPC
GGESTRSSSVINNYLDANEPVSLEARLSRMHFHDSQRKVDYVLAYHYRKRGVHLAQGFPG
HSLAIVSNGETGKEPHAGGPGDIELGPLDALEEERKEQREEFEHNLMEAGLELEKDLENK
SQGSIFVRIHAPWQVLAREAEFLKIKVPTKKEMYEIKAGGSIAKKFSAALQKLSSHLQPR
VPEHSNNKMKNLSYPFSREKMYLYNIQEKDTFFDNATRSRIVHEILKRTACSRANNTMGI
NSLIANNIYEAAYPLHDGEYDSPEDDMNDRKLLYQEWARYGVFYKFQPI
DLIRKYFGEKI
GLYFAWLGLYTSFLIPSSVIGVIVFLYGCATIEEDIPSREMCDQQNAFTMCPLCDKSCDY
WNLSSACGTAQASHLFDNPATVFFSIFMALWATMFLENWKRLQMRLGYFWDLTGIEEEEE
RAQEHSRPEYETKVREKMLKESNQSAVQKLETNTTECGDEDDEDKLTWKDRFPGYLMNFA
SILFMIALTFSIVFGVIVYRITTAAALSLNKATRSNVRVTVTATAVIINLVVILILDEIY
GAVAKWLTKIEVPKTEQTFEERLILKAFLLKFVNAYSPIFYVAFFKGRFVGRPGSYVYVF
DGYRMEECAPGGCLMELCIQLSIIMLGKQLIQNNIFEIGVPKLKKLFRKLKDETEAGETD
SAHSKHPEQWDLDYSLEPYTGLTPEYMEMIIQFGFVTLFVASFPLAPVFALLNNVIEVRL
DAKKFVTELRRPDAVRTKDIGIWFDILSGIGKFSVISNAFVIAITSDFIPRLVYQYSYSH
NGTLHGFVNHTLSFFNVSQLKEGTQPENSQFDQEVQFCRFKDYREPPWAPNPYEFSKQYW
FILSARLAFVIIFQNLVMFLSVLVDWMIPDIPTDISDQIKKE
KSLLVDFFLKEEHEKLKL
MDEPALRSPGGGDRSRSRAASSAPSGQSQLGSMMSSGSQHTNV
Sequence length 1003
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Olfactory transduction   Stimuli-sensing channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs71582855 RCV005933056
Ovarian serous cystadenocarcinoma Likely benign rs71582855 RCV005933057
Thymoma Likely benign rs71582855 RCV005933058
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cystitis Interstitial Associate 30973927
Multiple Sclerosis Associate 26862169, 31375628
Olfaction Disorders Associate 25635880
Urinary Bladder Diseases Associate 23018769
von Willebrand Disease Type 3 Associate 17371490, 25635880