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Gene Gene information from NCBI Gene database.
Entrez ID 196527
Gene name Anoctamin 6
Gene symbol ANO6
Synonyms (NCBI Gene)
BDPLT7SCTSTMEM16F
Chromosome 12
Chromosome location 12q12
Summary This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in variou
miRNA miRNA information provided by mirtarbase database.
294 Show/Hide all (294)
miRTarBase ID miRNA Experiments Reference
MIRT022736 hsa-miR-124-3p Microarray 18668037
MIRT026632 hsa-miR-192-5p Microarray 19074876
MIRT052405 hsa-let-7a-5p CLASH 23622248
MIRT047637 hsa-miR-10a-5p CLASH 23622248
MIRT047212 hsa-miR-182-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59 Show/Hide all (59)
GO ID Ontology Definition Evidence Reference
GO:0002543 Process Activation of blood coagulation via clotting cascade IMP 21107324
GO:0005227 Function Calcium-activated cation channel activity IDA 22946059
GO:0005227 Function Calcium-activated cation channel activity IMP 25651887
GO:0005227 Function Calcium-activated cation channel activity ISS
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IDA 21984732
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608663 25240 ENSG00000177119
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4KMQ2
Protein name Anoctamin-6 (Small-conductance calcium-activated nonselective cation channel) (SCAN channel) (Transmembrane protein 16F)
Protein function Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts (PubMed:20056604, PubMed:21107324, PubMed:21908539, PubMed:22006324, PubMed:22946059). Phosp
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04547 Anoctamin 287 → 870 Calcium-activated chloride channel Family
PF16178 Anoct_dimer 61 → 284 Dimerisation domain of Ca+-activated chloride-channel, anoctamin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in embryonic stem cell, fetal liver, retina, chronic myologenous leukemia and intestinal cancer. {ECO:0000269|PubMed:15067359}.
Sequence
Sequence length 910
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Efferocytosis Stimuli-sensing channels
  Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Show/Hide Causal Diseases (6)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ANO6-related disorder Likely pathogenic; Pathogenic rs1942853161, rs371269172, rs746960789, rs374664255 RCV003416765
RCV003406244
RCV003392894
RCV003419904
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus, nonsyndromic, autosomal recessive 2 Likely pathogenic rs2137629384 RCV004813345
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus Likely pathogenic rs1006218944 RCV005926495
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Pathogenic rs374664255 RCV005901171
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCOTT SYNDROME Pathogenic; Likely pathogenic rs2137575812, rs750168369, rs761437689, rs756474608, rs2547492090, rs549442808, rs374664255 RCV001783641
RCV001785946
RCV003336612
RCV003336614
RCV003336615
View all (2 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 (15)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS — Disgenet, GWAS catalog
Disgenet, GWAS catalog
22138694
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (26)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ankylosing spondylitis Ankylosing Spondylitis GWASDB_DG 22138694
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis Ankylosing Spondylitis CTD_human_DG 22138694
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 22138694
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 23308121
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders Blood coagulation disorder Pubtator 33346788, 40350307 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37643511, 37960776 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 39526479 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 31692479
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 31692479
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 31692479
★★★★★
★☆☆☆☆
Found in Text Mining only