Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57719
Gene name Gene Name - the full gene name approved by the HGNC.
Anoctamin 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANO8
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA1623, TMEM16H
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610216 29329 ENSG00000074855
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer subtype (triple negative vs luminal A-like) N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Intrahepatic Cholestasis of Pregnancy Associate 32942997