Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	121601
Gene name	Anoctamin 4
Gene symbol	ANO4
Synonyms (NCBI Gene)	TMEM16D
Chromosome	12
Chromosome location	12q23.1

38 Show/Hide all (38)

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

18 Show/Hide all (18)

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

MIM	HGNC	e!Ensembl
610111	23837	ENSG00000151572

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
PF04547	Anoctamin	339 → 920	Calcium-activated chloride channel	Family
PF16178	Anoct_dimer	111 → 336	Dimerisation domain of Ca+-activated chloride-channel, anoctamin	Family

Sequence

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

Sequence length

955

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Efferocytosis	Stimuli-sensing channels

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (16)
ALZHEIMER DISEASE	—	GWAS catalog	23535033	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	32595297, 34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	38411962	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	37106081	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	20864642	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	24709693	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	30571770	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	31049640	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (6)
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

ANO4 (anoctamin 4)

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