Gene Gene information from NCBI Gene database.
Entrez ID 57719
Gene name Anoctamin 8
Gene symbol ANO8
Synonyms (NCBI Gene)
KIAA1623TMEM16H
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
87
miRTarBase ID miRNA Experiments Reference
MIRT028358 hsa-miR-32-5p Sequencing 20371350
MIRT627119 hsa-miR-1267 HITS-CLIP 23824327
MIRT627118 hsa-miR-367-5p HITS-CLIP 23824327
MIRT627117 hsa-miR-6867-5p HITS-CLIP 23824327
MIRT627116 hsa-miR-4743-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IDA 21984732, 22178883
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IMP 22946059
GO:0005254 Function Chloride channel activity IBA
GO:0005254 Function Chloride channel activity TAS
GO:0005788 Component Endoplasmic reticulum lumen TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610216 29329 ENSG00000074855
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCE9
Protein name Anoctamin-8 (Transmembrane protein 16H)
Protein function Does not exhibit calcium-activated chloride channel (CaCC) activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04547 Anoctamin 237 878 Calcium-activated chloride channel Family
Tissue specificity TISSUE SPECIFICITY: Expressed in embryonic stem cells, fetal brain and neural tissues. {ECO:0000269|PubMed:15647853}.
Sequence
MAEAASGAGGTSLEGERGKRPPPEGEPAAPASGVLDKLFGKRLLQAGRYLVSHKAWMKTV
PTENCDVLMTFPDTTDDHTLLWLLNHIRVGIPELIVQVRHHRHTRAYAFFVTATYESLLR
GADELGLRKAVKAEFGGGTRGFSCEEDFIYENVESELRFFTSQERQSIIRFWLQNLRAKQ
GEALHNVRFLEDQPIIPELAARGIIQQVFPVHEQRILNRLMKSWVQAVCENQPLDDICDY
FGVKIAMYFAWLGFYTSAMVYPAVFGSVLYTFTEADQTSRDVSCVVFALFNVIWSTLFLE
EWKRRGAELAYKWGTLDSPGEAVEEPRPQFRGVRRISPITRAEEFYYPPWKRLLFQLLVS
LPLCLACLVCVFLLMLGCFQLQELVLSVKGLPRLARFLPKVMLALLVSVSAEGYKKLAIW
LNDMENYRLESAYEKHLIIKVVLFQFVNSYLSLFYIGFYLKDMERLKEMLATLLITRQFL
QNVREVLQPHLYRRLGRGELGLRAVWELARALLGLLSLRRPAPRRLEPQADEGGGGGSGG
GGRRCLSGGCGAPEEEEEAALVERRRAGEGGEEGDGPPGGKEEDEDDEEEEDEEEEEDEE
EGEEGGLLDCGLRLKKVSFAERGAGRRRPGPSPEALLEEGSPTMVEKGLEPGVFTLAEED
DEAEGAPGSPEREPPAILFRRAGGEGRDQGPDGGPDPEPGSNSDSTRRQRRQNRSSWIDP
PEEEHSPQLTQAELESCMKKYEDTFQDYQEMFVQFGYVVLFSSAFPLAALCALVNNLIEI
RSDAFKLCTGLQRPFGQRVESIGQWQKVMEAMGVLAIVVNCYLIGQCGQLQRLFPWLSPE
AAIVSVVVLEHFALLLKYLIHVAIPDIPGWVAEEMAKL
EYQRREAFKRHERQAQHRYQQQ
QRRRREEEERQRHAEHHARREHDSGGREEARAEGSGLDPATSSEKASAKAKGSTAGGHGP
ERPKRPGSLLAPNNVMKLKQIIPLQGKFLSSGATSSLAAAGAGATTRPPPAQSPTGSDTR
LPAFLSFKFLKSPETRRDSERSHSPPKAFHAGKLFPFGGTRAEPGSNGAGGQARPDGTPS
SGSSRVQRSGPVDEALAEELEAPRPEEEGSGTALAPVGAPALRTRRSRSPAPPPPMPLPR
PPTPPAGCWQWDGPWGCGGEGAAPRQALAAAECPPCAMAGPPPAPQPLPGDASFYSLPPP
PLPPTSDPLETPAPSPSPSPSPQAVCWPSGWH
Sequence length 1232
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Stimuli-sensing channels
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ANO8-related disorder Likely benign rs150818557, rs1335164709 RCV003929103
RCV003983653
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Intrahepatic Cholestasis of Pregnancy Associate 32942997