ANO2 (anoctamin 2)

Gene

• Entrez ID: 57101
• Gene name: Anoctamin 2
• Gene symbol: ANO2
• Synonyms (NCBI Gene): C12orf3, TMEM16B
• 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

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
MIRT785667	hsa-miR-4758-3p	CLIP-seq
MIRT785668	hsa-miR-578	CLIP-seq
MIRT1931765	hsa-miR-3672	CLIP-seq
MIRT1931766	hsa-miR-3688-5p	CLIP-seq
MIRT1931767	hsa-miR-4318	CLIP-seq
MIRT1931768	hsa-miR-885-3p	CLIP-seq
MIRT2172231	hsa-miR-1236	CLIP-seq
MIRT2172232	hsa-miR-1324	CLIP-seq
MIRT2172233	hsa-miR-3130-3p	CLIP-seq
MIRT2172234	hsa-miR-3157-5p	CLIP-seq
MIRT2172235	hsa-miR-3158-5p	CLIP-seq
MIRT2172236	hsa-miR-3166	CLIP-seq
MIRT2172237	hsa-miR-3667-3p	CLIP-seq
MIRT2172238	hsa-miR-3685	CLIP-seq
MIRT2172239	hsa-miR-4738-5p	CLIP-seq
MIRT2172240	hsa-miR-4753-3p	CLIP-seq
MIRT2172241	hsa-miR-4768-5p	CLIP-seq
MIRT2172242	hsa-miR-4771	CLIP-seq
MIRT2172243	hsa-miR-767-5p	CLIP-seq
MIRT2384235	hsa-miR-142-5p	CLIP-seq
MIRT2384236	hsa-miR-186	CLIP-seq
MIRT785663	hsa-miR-2276	CLIP-seq
MIRT2384237	hsa-miR-3133	CLIP-seq
MIRT2384238	hsa-miR-340	CLIP-seq
MIRT2384239	hsa-miR-3657	CLIP-seq
MIRT785664	hsa-miR-4286	CLIP-seq
MIRT785665	hsa-miR-4323	CLIP-seq
MIRT785666	hsa-miR-4328	CLIP-seq
MIRT2384240	hsa-miR-4669	CLIP-seq
MIRT785667	hsa-miR-4758-3p	CLIP-seq

Gene ontology (GO)

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
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034707	Component	Chloride channel complex	IEA
GO:0046983	Function	Protein dimerization activity	IDA	23576756
GO:0046983	Function	Protein dimerization activity	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA

Other IDs

• MIM: 610109
• HGNC: 1183
• e!Ensembl: ENSG00000047617

Protein

• UniProt ID: 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
  NSLIANNIYEAAYPLHDGEYDSPEDDMNDRKLLYQEWARYGVFYKFQPIDLIRKYFGEKI
  GLYFAWLGLYTSFLIPSSVIGVIVFLYGCATIEEDIPSREMCDQQNAFTMCPLCDKSCDY
  WNLSSACGTAQASHLFDNPATVFFSIFMALWATMFLENWKRLQMRLGYFWDLTGIEEEEE
  RAQEHSRPEYETKVREKMLKESNQSAVQKLETNTTECGDEDDEDKLTWKDRFPGYLMNFA
  SILFMIALTFSIVFGVIVYRITTAAALSLNKATRSNVRVTVTATAVIINLVVILILDEIY
  GAVAKWLTKIEVPKTEQTFEERLILKAFLLKFVNAYSPIFYVAFFKGRFVGRPGSYVYVF
  DGYRMEECAPGGCLMELCIQLSIIMLGKQLIQNNIFEIGVPKLKKLFRKLKDETEAGETD
  SAHSKHPEQWDLDYSLEPYTGLTPEYMEMIIQFGFVTLFVASFPLAPVFALLNNVIEVRL
  DAKKFVTELRRPDAVRTKDIGIWFDILSGIGKFSVISNAFVIAITSDFIPRLVYQYSYSH
  NGTLHGFVNHTLSFFNVSQLKEGTQPENSQFDQEVQFCRFKDYREPPWAPNPYEFSKQYW
  FILSARLAFVIIFQNLVMFLSVLVDWMIPDIPTDISDQIKKEKSLLVDFFLKEEHEKLKL
  MDEPALRSPGGGDRSRSRAASSAPSGQSQLGSMMSSGSQHTNV

• Sequence length: 1003

Pathways

KEGG:

Olfactory transduction

Reactome:

Stimuli-sensing channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISEASE OF PERITONEUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cystitis Interstitial	Interstitial cystitis	Pubtator	30973927	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31140648		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31140648		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26862169, 31375628		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	26862169, 31375628	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy type 1	Narcolepsy	BEFREE	31328572		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12115573		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31328572		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	GWASDB_DG	19165232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Disorder	Panic Disorder	GWASCAT_DG	19165232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Disorder	Panic Disorder	BEFREE	23018769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	23018769	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	LHGDN	17371490		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 3	Von willebrand disorder	Pubtator	17371490, 25635880	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 3	von Willebrand disorder	BEFREE	17371490		★☆☆☆☆ Found in Text Mining only