ANO4 (anoctamin 4)

Gene

• Entrez ID: 121601
• Gene name: Anoctamin 4
• Gene symbol: ANO4
• Synonyms (NCBI Gene): TMEM16D
• Chromosome: 12
• Chromosome location: 12q23.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052833	hsa-miR-378c	CLASH	23622248
MIRT785702	hsa-miR-1182	CLIP-seq
MIRT785703	hsa-miR-134	CLIP-seq
MIRT785704	hsa-miR-1910	CLIP-seq
MIRT785705	hsa-miR-193a-5p	CLIP-seq
MIRT785706	hsa-miR-30a	CLIP-seq
MIRT785707	hsa-miR-30b	CLIP-seq
MIRT785708	hsa-miR-30c	CLIP-seq
MIRT785709	hsa-miR-30d	CLIP-seq
MIRT785710	hsa-miR-30e	CLIP-seq
MIRT785711	hsa-miR-3118	CLIP-seq
MIRT785712	hsa-miR-3145-5p	CLIP-seq
MIRT785713	hsa-miR-3164	CLIP-seq
MIRT785714	hsa-miR-3655	CLIP-seq
MIRT785715	hsa-miR-382	CLIP-seq
MIRT785716	hsa-miR-3909	CLIP-seq
MIRT785717	hsa-miR-4302	CLIP-seq
MIRT1931793	hsa-miR-33a	CLIP-seq
MIRT1931794	hsa-miR-33b	CLIP-seq
MIRT785703	hsa-miR-134	CLIP-seq
MIRT785704	hsa-miR-1910	CLIP-seq
MIRT785711	hsa-miR-3118	CLIP-seq
MIRT785712	hsa-miR-3145-5p	CLIP-seq
MIRT785713	hsa-miR-3164	CLIP-seq
MIRT785716	hsa-miR-3909	CLIP-seq
MIRT785717	hsa-miR-4302	CLIP-seq
MIRT2384241	hsa-miR-23a	CLIP-seq
MIRT2384242	hsa-miR-23b	CLIP-seq
MIRT2384243	hsa-miR-23c	CLIP-seq
MIRT785702	hsa-miR-1182	CLIP-seq
MIRT785705	hsa-miR-193a-5p	CLIP-seq
MIRT785706	hsa-miR-30a	CLIP-seq
MIRT785707	hsa-miR-30b	CLIP-seq
MIRT785708	hsa-miR-30c	CLIP-seq
MIRT785709	hsa-miR-30d	CLIP-seq
MIRT785710	hsa-miR-30e	CLIP-seq
MIRT785714	hsa-miR-3655	CLIP-seq
MIRT785715	hsa-miR-382	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	22946059
GO:0005254	Function	Chloride channel activity	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22946059
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0017128	Function	Phospholipid scramblase activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0061589	Process	Calcium activated phosphatidylserine scrambling	IEA
GO:0061590	Process	Calcium activated phosphatidylcholine scrambling	IEA
GO:0061591	Process	Calcium activated galactosylceramide scrambling	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	22946059

Other IDs

• MIM: 610111
• HGNC: 23837
• e!Ensembl: ENSG00000151572

Protein

• UniProt ID: Q32M45
• Protein name: Anoctamin-4 (Transmembrane protein 16D)
• Protein function: Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (By similarity). {ECO:0000250|U
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16178	Anoct_dimer	111 → 336	Dimerisation domain of Ca+-activated chloride-channel, anoctamin	Family
  PF04547	Anoctamin	339 → 920	Calcium-activated chloride channel	Family

• Sequence:

  MEASSSGITNGKTKVFHPEGGVDLQGYQLDMQILPDGPKSDVDFSEILNAIQEMAKDVNI
  LFDELEAVSSPCKDDDSLLHPGNLTSTSDDASRLEAGGETVPERNKSNGLYFRDGKCRID
  YILVYRKSNPQTEKREVFERNIRAEGLQMEKESSLINSDIIFVKLHAPWEVLGRYAEQMN
  VRMPFRRKIYYLPRRYKFMSRIDKQISRFRRWLPKKPMRLDKETLPDLEENDCYTAPFSQ
  QRIHHFIIHNKETFFNNATRSRIVHHILQRIKYEEGKNKIGLNRLLTNGSYEAAFPLHEG
  SYRSKNSIRTHGAENHRHLLYECWASWGVWYKYQPLDLVRRYFGEKIGLYFAWLGWYTGM
  LFPAAFIGLFVFLYGVTTLDHSQVSKEVCQATDIIMCPVCDKYCPFMRLSDSCVYAKVTH
  LFDNGATVFFAVFMAVWATVFLEFWKRRRAVIAYDWDLIDWEEEEEEIRPQFEAKYSKKE
  RMNPISGKPEPYQAFTDKCSRLIVSASGIFFMICVVIAAVFGIVIYRVVTVSTFAAFKWA
  LIRNNSQVATTGTAVCINFCIIMLLNVLYEKVALLLTNLEQPRTESEWENSFTLKMFLFQ
  FVNLNSSTFYIAFFLGRFTGHPGAYLRLINRWRLEECHPSGCLIDLCMQMGIIMVLKQTW
  NNFMELGYPLIQNWWTRRKVRQEHGPERKISFPQWEKDYNLQPMNAYGLFDEYLEMILQF
  GFTTIFVAAFPLAPLLALLNNIIEIRLDAYKFVTQWRRPLASRAKDIGIWYGILEGIGIL
  SVITNAFVIAITSDFIPRLVYAYKYGPCAGQGEAGQKCMVGYVNASLSVFRISDFENRSE
  PESDGSEFSGTPLKYCRYRDYRDPPHSLVPYGYTLQFWHVLAARLAFIIVFEHLVFCIKH
  LISYLIPDLPKDLRDRMRREKYLIQEMMYEAELERLQKERKERKKNGKAHHNEWP

• Sequence length: 955

Pathways

KEGG:

Efferocytosis

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Developmental and epileptic encephalopathy	Pathogenic	rs2049522225, rs2541493503, rs2049521857, rs2541533331, rs1224091418	RCV003991524 RCV003991525 RCV003991526 RCV003991527 RCV003991528	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized epilepsy with febrile seizures plus	Pathogenic	rs2541492742	RCV003991529	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Temporal lobe epilepsy	Likely pathogenic	rs200708403	RCV003993695	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	23535033		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	23535033		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32027096	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	27846195		★☆☆☆☆ Found in Text Mining only