Gene Gene information from NCBI Gene database.
Entrez ID 121601
Gene name Anoctamin 4
Gene symbol ANO4
Synonyms (NCBI Gene)
TMEM16D
Chromosome 12
Chromosome location 12q23.1
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610111 23837 ENSG00000151572
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
SYRSKNSIRTHGAENHRHLLYECWASWGVWYKYQPL
DLVRRYFGEKIGLYFAWLGWYTGM
LFPAAFIGLFVFLYGVTTLDHSQVSKEVCQATDIIMCPVCDKYCPFMRLSDSCVYAKVTH
LFDNGATVFFAVFMAVWATVFLEFWKRRRAVIAYDWDLIDWEEEEEEIRPQFEAKYSKKE
RMNPISGKPEPYQAFTDKCSRLIVSASGIFFMICVVIAAVFGIVIYRVVTVSTFAAFKWA
LIRNNSQVATTGTAVCINFCIIMLLNVLYEKVALLLTNLEQPRTESEWENSFTLKMFLFQ
FVNLNSSTFYIAFFLGRFTGHPGAYLRLINRWRLEECHPSGCLIDLCMQMGIIMVLKQTW
NNFMELGYPLIQNWWTRRKVRQEHGPERKISFPQWEKDYNLQPMNAYGLFDEYLEMILQF
GFTTIFVAAFPLAPLLALLNNIIEIRLDAYKFVTQWRRPLASRAKDIGIWYGILEGIGIL
SVITNAFVIAITSDFIPRLVYAYKYGPCAGQGEAGQKCMVGYVNASLSVFRISDFENRSE
PESDGSEFSGTPLKYCRYRDYRDPPHSLVPYGYTLQFWHVLAARLAFIIVFEHLVFCIKH
LISYLIPDLPKDLRDRMRRE
KYLIQEMMYEAELERLQKERKERKKNGKAHHNEWP
Sequence length 955
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis   Stimuli-sensing channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy Pathogenic rs2049522225, rs2541493503, rs2049521857, rs2541533331, rs1224091418 RCV003991524
RCV003991525
RCV003991526
RCV003991527
RCV003991528
Generalized epilepsy with febrile seizures plus Pathogenic rs2541492742 RCV003991529
Temporal lobe epilepsy Likely pathogenic rs200708403 RCV003993695
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Herpes Zoster Associate 31564164
Prostatic Neoplasms Associate 32027096