ANO6
Anoctamin-6
Also known as: ANO6_HUMAN, DKFZp313M0720, TMEM16F
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q4KMQ2
- Gene
- ANO6
- Ensembl
- ENSG00000177119
- Chromosome
- 12
- Canonical length
- 910 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Plasma membrane,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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 various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
Canonical amino-acid sequenceUniProt
910 residues, UniProt reviewed canonical sequence.
>Q4KMQ2|ANO6
1 MKKMSRNVLL QMEEEEDDDD GDIVLENLGQ TIVPDLGSLE SQHDFRTPEF EEFNGKPDSL
61 FFNDGQRRID FVLVYEDESR KETNKKGTNE KQRRKRQAYE SNLICHGLQL EATRSVLDDK
121 LVFVKVHAPW EVLCTYAEIM HIKLPLKPND LKNRSSAFGT LNWFTKVLSV DESIIKPEQE
181 FFTAPFEKNR MNDFYIVDRD AFFNPATRSR IVYFILSRVK YQVINNVSKF GINRLVNSGI
241 YKAAFPLHDC KFRRQSEDPS CPNERYLLYR EWAHPRSIYK KQPLDLIRKY YGEKIGIYFA
301 WLGYYTQMLL LAAVVGVACF LYGYLNQDNC TWSKEVCHPD IGGKIIMCPQ CDRLCPFWKL
361 NITCESSKKL CIFDSFGTLV FAVFMGVWVT LFLEFWKRRQ AELEYEWDTV ELQQEEQARP
421 EYEARCTHVV INEITQEEER IPFTAWGKCI RITLCASAVF FWILLIIASV IGIIVYRLSV
481 FIVFSAKLPK NINGTDPIQK YLTPQTATSI TASIISFIII MILNTIYEKV AIMITNFELP
541 RTQTDYENSL TMKMFLFQFV NYYSSCFYIA FFKGKFVGYP GDPVYWLGKY RNEECDPGGC
601 LLELTTQLTI IMGGKAIWNN IQEVLLPWIM NLIGRFHRVS GSEKITPRWE QDYHLQPMGK
661 LGLFYEYLEM IIQFGFVTLF VASFPLAPLL ALVNNILEIR VDAWKLTTQF RRLVPEKAQD
721 IGAWQPIMQG IAILAVVTNA MIIAFTSDMI PRLVYYWSFS VPPYGDHTSY TMEGYINNTL
781 SIFKVADFKN KSKGNPYSDL GNHTTCRYRD FRYPPGHPQE YKHNIYYWHV IAAKLAFIIV
841 MEHVIYSVKF FISYAIPDVS KRTKSKIQRE KYLTQKLLHE NHLKDMTKNM GVIAERMIEA
901 VDNNLRPKSELocalizationUniProt · AlphaFold · HPA
Whether an antibody against ANO6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 9
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 81 nTPM
Expression across tissuesHPA
Tissue
- adipose tissue: 81 nTPM
- parathyroid gland: 55 nTPM
- liver: 53 nTPM
- ovary: 53 nTPM
- skeletal muscle: 52 nTPM
- small intestine: 48 nTPM
Single-cell type
- platelets: 1,145 nCPM
- adipocytes: 913 nCPM
- myonuclei: 613 nCPM
- endometrial secretory cells: 493 nCPM
- smooth muscle cells: 434 nCPM
- urothelial cells: 421 nCPM
Immune cell
- non-classical monocyte: 7.1 nTPM
- intermediate monocyte: 6.9 nTPM
- classical monocyte: 5.9 nTPM
- myeloid DC: 5.6 nTPM
- total PBMC: 4.2 nTPM
- basophil: 3.1 nTPM
Brain region
- choroid plexus: 25 nTPM
- hypothalamus: 18 nTPM
- medulla oblongata: 18 nTPM
- pons: 16 nTPM
- spinal cord: 15 nTPM
- white matter: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ANO6.
Disease | AllUniProt
Conditions ANO6 is implicated in, by any mechanism.
- Scott syndrome (SCTS) MIM:262890
Disease | GeneticClinVar
39 pathogenic / likely-pathogenic of 421 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- SCOTT SYNDROME
- ANO6-related disorder
- Melanoma
- Hydrocephalus, nonsyndromic, autosomal recessive 2
- Malignant tumor of esophagus
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.14
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.9
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- activation of blood coagulation via clotting cascade
- bleb assembly
- blood coagulation
- calcium activated phosphatidylcholine scrambling
- calcium activated phosphatidylserine scrambling
- calcium ion transmembrane transport
- chloride transmembrane transport
- monoatomic ion transmembrane transport
- negative regulation of cell volume
- plasma membrane phospholipid scrambling
- pore complex assembly
- positive regulation of apoptotic process
- positive regulation of bone mineralization
- positive regulation of monoatomic ion transmembrane transport
- positive regulation of monocyte chemotaxis
- positive regulation of phagocytosis, engulfment
- positive regulation of potassium ion export across plasma membrane
- purinergic nucleotide receptor signaling pathway
- sodium ion transmembrane transport
- phosphatidylserine exposure on blood platelet
Molecular functions
- calcium-activated cation channel activity
- chloride channel activity
- intracellularly calcium-gated chloride channel activity
- metal ion binding
- phospholipid scramblase activity
- protein dimerization activity
- voltage-gated chloride channel activity
- voltage-gated monoatomic ion channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ANO6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ANO6 as an antibody target. Whether an autoantibody or antibody against ANO6 could matter depends on whether native ANO6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ANO6 is annotated at the cell surface, where native ANO6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ANO6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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