Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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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
MIRT040178	hsa-miR-615-3p	CLASH	23622248
MIRT052862	hsa-miR-3620-3p	CLASH	23622248
MIRT660614	hsa-miR-3908	HITS-CLIP	23824327
MIRT660613	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT660612	hsa-miR-3661	HITS-CLIP	23824327
MIRT660611	hsa-miR-631	HITS-CLIP	23824327
MIRT441219	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441219	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT660614	hsa-miR-3908	HITS-CLIP	23824327
MIRT660613	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT660612	hsa-miR-3661	HITS-CLIP	23824327
MIRT660611	hsa-miR-631	HITS-CLIP	23824327
MIRT785753	hsa-miR-106a	CLIP-seq
MIRT785754	hsa-miR-106b	CLIP-seq
MIRT785755	hsa-miR-17	CLIP-seq
MIRT785756	hsa-miR-20a	CLIP-seq
MIRT785757	hsa-miR-20b	CLIP-seq
MIRT785758	hsa-miR-302a	CLIP-seq
MIRT785759	hsa-miR-302b	CLIP-seq
MIRT785760	hsa-miR-302c	CLIP-seq
MIRT785761	hsa-miR-302d	CLIP-seq
MIRT785762	hsa-miR-302e	CLIP-seq
MIRT785763	hsa-miR-3609	CLIP-seq
MIRT785764	hsa-miR-372	CLIP-seq
MIRT785765	hsa-miR-373	CLIP-seq
MIRT785766	hsa-miR-4330	CLIP-seq
MIRT785767	hsa-miR-4796-3p	CLIP-seq
MIRT785768	hsa-miR-4803	CLIP-seq
MIRT785769	hsa-miR-514	CLIP-seq
MIRT785770	hsa-miR-514b-3p	CLIP-seq
MIRT785771	hsa-miR-519d	CLIP-seq
MIRT785772	hsa-miR-520a-3p	CLIP-seq
MIRT785773	hsa-miR-520b	CLIP-seq
MIRT785774	hsa-miR-520c-3p	CLIP-seq
MIRT785775	hsa-miR-520d-3p	CLIP-seq
MIRT785776	hsa-miR-520e	CLIP-seq
MIRT785777	hsa-miR-520f	CLIP-seq
MIRT785778	hsa-miR-548ah	CLIP-seq
MIRT785779	hsa-miR-93	CLIP-seq
MIRT785780	hsa-miR-1247	CLIP-seq
MIRT785781	hsa-miR-1266	CLIP-seq
MIRT785782	hsa-miR-127-3p	CLIP-seq
MIRT785783	hsa-miR-1279	CLIP-seq
MIRT785784	hsa-miR-135a	CLIP-seq
MIRT785785	hsa-miR-135b	CLIP-seq
MIRT785786	hsa-miR-203	CLIP-seq
MIRT785787	hsa-miR-2115	CLIP-seq
MIRT785788	hsa-miR-2276	CLIP-seq
MIRT785789	hsa-miR-27a	CLIP-seq
MIRT785790	hsa-miR-27b	CLIP-seq
MIRT785791	hsa-miR-3125	CLIP-seq
MIRT785792	hsa-miR-3146	CLIP-seq
MIRT785793	hsa-miR-3180-5p	CLIP-seq
MIRT785794	hsa-miR-330-3p	CLIP-seq
MIRT785763	hsa-miR-3609	CLIP-seq
MIRT785795	hsa-miR-3622a-5p	CLIP-seq
MIRT785796	hsa-miR-3664-3p	CLIP-seq
MIRT785797	hsa-miR-3672	CLIP-seq
MIRT785798	hsa-miR-3690	CLIP-seq
MIRT785799	hsa-miR-3916	CLIP-seq
MIRT785800	hsa-miR-3928	CLIP-seq
MIRT785801	hsa-miR-4254	CLIP-seq
MIRT785802	hsa-miR-4268	CLIP-seq
MIRT785803	hsa-miR-4274	CLIP-seq
MIRT785804	hsa-miR-4281	CLIP-seq
MIRT785805	hsa-miR-4282	CLIP-seq
MIRT785806	hsa-miR-4423-3p	CLIP-seq
MIRT785807	hsa-miR-4428	CLIP-seq
MIRT785808	hsa-miR-4433	CLIP-seq
MIRT785809	hsa-miR-4448	CLIP-seq
MIRT785810	hsa-miR-4449	CLIP-seq
MIRT785811	hsa-miR-4459	CLIP-seq
MIRT785812	hsa-miR-4518	CLIP-seq
MIRT785813	hsa-miR-4709-3p	CLIP-seq
MIRT785814	hsa-miR-4768-3p	CLIP-seq
MIRT785815	hsa-miR-4772-3p	CLIP-seq
MIRT785816	hsa-miR-4776-3p	CLIP-seq
MIRT785817	hsa-miR-494	CLIP-seq
MIRT785818	hsa-miR-505	CLIP-seq
MIRT785819	hsa-miR-513a-5p	CLIP-seq
MIRT785820	hsa-miR-518a-5p	CLIP-seq
MIRT785821	hsa-miR-520a-5p	CLIP-seq
MIRT785822	hsa-miR-520g	CLIP-seq
MIRT785823	hsa-miR-520h	CLIP-seq
MIRT785824	hsa-miR-525-5p	CLIP-seq
MIRT785825	hsa-miR-527	CLIP-seq
MIRT785778	hsa-miR-548ah	CLIP-seq
MIRT785826	hsa-miR-548c-3p	CLIP-seq
MIRT785827	hsa-miR-564	CLIP-seq
MIRT785828	hsa-miR-577	CLIP-seq
MIRT785829	hsa-miR-615-5p	CLIP-seq
MIRT785830	hsa-miR-647	CLIP-seq
MIRT785831	hsa-miR-7	CLIP-seq
MIRT785832	hsa-miR-1262	CLIP-seq
MIRT785833	hsa-miR-3120-5p	CLIP-seq
MIRT785834	hsa-miR-3613-3p	CLIP-seq
MIRT785835	hsa-miR-3664-5p	CLIP-seq
MIRT785836	hsa-miR-371-5p	CLIP-seq
MIRT785837	hsa-miR-371b-5p	CLIP-seq
MIRT785838	hsa-miR-4432	CLIP-seq
MIRT785839	hsa-miR-4522	CLIP-seq
MIRT785840	hsa-miR-4701-3p	CLIP-seq
MIRT785841	hsa-miR-4797-5p	CLIP-seq
MIRT785842	hsa-miR-499-5p	CLIP-seq
MIRT785843	hsa-miR-508-5p	CLIP-seq
MIRT785844	hsa-miR-542-3p	CLIP-seq
MIRT785845	hsa-miR-661	CLIP-seq
MIRT785846	hsa-miR-766	CLIP-seq
MIRT785847	hsa-miR-142-3p	CLIP-seq
MIRT785787	hsa-miR-2115	CLIP-seq
MIRT785791	hsa-miR-3125	CLIP-seq
MIRT785848	hsa-miR-3126-5p	CLIP-seq
MIRT785849	hsa-miR-3174	CLIP-seq
MIRT785850	hsa-miR-3607-3p	CLIP-seq
MIRT785851	hsa-miR-3686	CLIP-seq
MIRT785799	hsa-miR-3916	CLIP-seq
MIRT785852	hsa-miR-4419a	CLIP-seq
MIRT785853	hsa-miR-4510	CLIP-seq
MIRT785854	hsa-miR-4652-3p	CLIP-seq
MIRT785855	hsa-miR-4719	CLIP-seq
MIRT785856	hsa-miR-513b	CLIP-seq
MIRT785857	hsa-miR-548an	CLIP-seq
MIRT785858	hsa-miR-921	CLIP-seq
MIRT1931797	hsa-miR-4633-5p	CLIP-seq
MIRT785753	hsa-miR-106a	CLIP-seq
MIRT785754	hsa-miR-106b	CLIP-seq
MIRT1931798	hsa-miR-1237	CLIP-seq
MIRT1931799	hsa-miR-142-5p	CLIP-seq
MIRT1931800	hsa-miR-148a	CLIP-seq
MIRT1931801	hsa-miR-148b	CLIP-seq
MIRT1931802	hsa-miR-151-3p	CLIP-seq
MIRT1931803	hsa-miR-152	CLIP-seq
MIRT785755	hsa-miR-17	CLIP-seq
MIRT1931804	hsa-miR-1825	CLIP-seq
MIRT1931805	hsa-miR-200b	CLIP-seq
MIRT1931806	hsa-miR-200c	CLIP-seq
MIRT1931807	hsa-miR-205	CLIP-seq
MIRT785756	hsa-miR-20a	CLIP-seq
MIRT785757	hsa-miR-20b	CLIP-seq
MIRT1931808	hsa-miR-217	CLIP-seq
MIRT1931809	hsa-miR-28-3p	CLIP-seq
MIRT1931810	hsa-miR-3117-5p	CLIP-seq
MIRT1931811	hsa-miR-3130-3p	CLIP-seq
MIRT1931812	hsa-miR-3182	CLIP-seq
MIRT785763	hsa-miR-3609	CLIP-seq
MIRT785851	hsa-miR-3686	CLIP-seq
MIRT1931813	hsa-miR-411	CLIP-seq
MIRT1931814	hsa-miR-4276	CLIP-seq
MIRT1931815	hsa-miR-429	CLIP-seq
MIRT1931816	hsa-miR-4418	CLIP-seq
MIRT1931817	hsa-miR-4463	CLIP-seq
MIRT1931818	hsa-miR-4499	CLIP-seq
MIRT1931819	hsa-miR-4742-3p	CLIP-seq
MIRT1931820	hsa-miR-4747-5p	CLIP-seq
MIRT1931821	hsa-miR-4760-3p	CLIP-seq
MIRT785767	hsa-miR-4796-3p	CLIP-seq
MIRT1931822	hsa-miR-509-3-5p	CLIP-seq
MIRT1931823	hsa-miR-509-5p	CLIP-seq
MIRT785771	hsa-miR-519d	CLIP-seq
MIRT1931824	hsa-miR-539	CLIP-seq
MIRT785778	hsa-miR-548ah	CLIP-seq
MIRT1931825	hsa-miR-579	CLIP-seq
MIRT1931826	hsa-miR-604	CLIP-seq
MIRT1931827	hsa-miR-624	CLIP-seq
MIRT785830	hsa-miR-647	CLIP-seq
MIRT1931828	hsa-miR-664	CLIP-seq
MIRT785779	hsa-miR-93	CLIP-seq
MIRT785753	hsa-miR-106a	CLIP-seq
MIRT785754	hsa-miR-106b	CLIP-seq
MIRT2172262	hsa-miR-1193	CLIP-seq
MIRT2172263	hsa-miR-1207-3p	CLIP-seq
MIRT2172264	hsa-miR-138	CLIP-seq
MIRT2172265	hsa-miR-141	CLIP-seq
MIRT785847	hsa-miR-142-3p	CLIP-seq
MIRT1931799	hsa-miR-142-5p	CLIP-seq
MIRT785755	hsa-miR-17	CLIP-seq
MIRT2172266	hsa-miR-181a	CLIP-seq
MIRT2172267	hsa-miR-181b	CLIP-seq
MIRT2172268	hsa-miR-181c	CLIP-seq
MIRT2172269	hsa-miR-181d	CLIP-seq
MIRT2172270	hsa-miR-200a	CLIP-seq
MIRT1931805	hsa-miR-200b	CLIP-seq
MIRT1931806	hsa-miR-200c	CLIP-seq
MIRT785756	hsa-miR-20a	CLIP-seq
MIRT785757	hsa-miR-20b	CLIP-seq
MIRT2172271	hsa-miR-2110	CLIP-seq
MIRT785787	hsa-miR-2115	CLIP-seq
MIRT785788	hsa-miR-2276	CLIP-seq
MIRT785758	hsa-miR-302a	CLIP-seq
MIRT785759	hsa-miR-302b	CLIP-seq
MIRT785760	hsa-miR-302c	CLIP-seq
MIRT785761	hsa-miR-302d	CLIP-seq
MIRT785762	hsa-miR-302e	CLIP-seq
MIRT2172272	hsa-miR-3121-5p	CLIP-seq
MIRT785849	hsa-miR-3174	CLIP-seq
MIRT785793	hsa-miR-3180-5p	CLIP-seq
MIRT2172273	hsa-miR-3200-5p	CLIP-seq
MIRT2172274	hsa-miR-320a	CLIP-seq
MIRT2172275	hsa-miR-320b	CLIP-seq
MIRT2172276	hsa-miR-320c	CLIP-seq
MIRT2172277	hsa-miR-320d	CLIP-seq
MIRT2172278	hsa-miR-34c-3p	CLIP-seq
MIRT785763	hsa-miR-3609	CLIP-seq
MIRT2172279	hsa-miR-3622b-5p	CLIP-seq
MIRT2172280	hsa-miR-3647-3p	CLIP-seq
MIRT2172281	hsa-miR-3654	CLIP-seq
MIRT2172282	hsa-miR-3662	CLIP-seq
MIRT2172283	hsa-miR-3680	CLIP-seq
MIRT2172284	hsa-miR-3691-5p	CLIP-seq
MIRT2172285	hsa-miR-3714	CLIP-seq
MIRT785764	hsa-miR-372	CLIP-seq
MIRT785765	hsa-miR-373	CLIP-seq
MIRT2172286	hsa-miR-377	CLIP-seq
MIRT2172287	hsa-miR-3919	CLIP-seq
MIRT2172288	hsa-miR-3929	CLIP-seq
MIRT2172289	hsa-miR-4262	CLIP-seq
MIRT2172290	hsa-miR-4271	CLIP-seq
MIRT1931815	hsa-miR-429	CLIP-seq
MIRT2172291	hsa-miR-4299	CLIP-seq
MIRT2172292	hsa-miR-4318	CLIP-seq
MIRT785766	hsa-miR-4330	CLIP-seq
MIRT2172293	hsa-miR-4419b	CLIP-seq
MIRT2172294	hsa-miR-4429	CLIP-seq
MIRT2172295	hsa-miR-4438	CLIP-seq
MIRT2172296	hsa-miR-4446-5p	CLIP-seq
MIRT2172297	hsa-miR-4478	CLIP-seq
MIRT2172298	hsa-miR-4493	CLIP-seq
MIRT2172299	hsa-miR-4520a-3p	CLIP-seq
MIRT1931797	hsa-miR-4633-5p	CLIP-seq
MIRT2172300	hsa-miR-4638-3p	CLIP-seq
MIRT2172301	hsa-miR-4643	CLIP-seq
MIRT2172302	hsa-miR-466	CLIP-seq
MIRT2172303	hsa-miR-4682	CLIP-seq
MIRT2172304	hsa-miR-4687-3p	CLIP-seq
MIRT2172305	hsa-miR-4704-5p	CLIP-seq
MIRT785813	hsa-miR-4709-3p	CLIP-seq
MIRT785855	hsa-miR-4719	CLIP-seq
MIRT2172306	hsa-miR-4725-3p	CLIP-seq
MIRT2172307	hsa-miR-4731-5p	CLIP-seq
MIRT2172308	hsa-miR-4752	CLIP-seq
MIRT2172309	hsa-miR-4755-5p	CLIP-seq
MIRT2172310	hsa-miR-4756-3p	CLIP-seq
MIRT2172311	hsa-miR-4789-3p	CLIP-seq
MIRT785767	hsa-miR-4796-3p	CLIP-seq
MIRT785768	hsa-miR-4803	CLIP-seq
MIRT2172312	hsa-miR-495	CLIP-seq
MIRT785856	hsa-miR-513b	CLIP-seq
MIRT785771	hsa-miR-519d	CLIP-seq
MIRT785772	hsa-miR-520a-3p	CLIP-seq
MIRT785821	hsa-miR-520a-5p	CLIP-seq
MIRT785773	hsa-miR-520b	CLIP-seq
MIRT785774	hsa-miR-520c-3p	CLIP-seq
MIRT785775	hsa-miR-520d-3p	CLIP-seq
MIRT785776	hsa-miR-520e	CLIP-seq
MIRT785777	hsa-miR-520f	CLIP-seq
MIRT785824	hsa-miR-525-5p	CLIP-seq
MIRT785778	hsa-miR-548ah	CLIP-seq
MIRT785857	hsa-miR-548an	CLIP-seq
MIRT2172313	hsa-miR-603	CLIP-seq
MIRT785858	hsa-miR-921	CLIP-seq
MIRT785779	hsa-miR-93	CLIP-seq
MIRT785833	hsa-miR-3120-5p	CLIP-seq
MIRT785834	hsa-miR-3613-3p	CLIP-seq
MIRT785835	hsa-miR-3664-5p	CLIP-seq
MIRT785836	hsa-miR-371-5p	CLIP-seq
MIRT785837	hsa-miR-371b-5p	CLIP-seq
MIRT785838	hsa-miR-4432	CLIP-seq
MIRT785839	hsa-miR-4522	CLIP-seq
MIRT785842	hsa-miR-499-5p	CLIP-seq
MIRT785832	hsa-miR-1262	CLIP-seq
MIRT785833	hsa-miR-3120-5p	CLIP-seq
MIRT785834	hsa-miR-3613-3p	CLIP-seq
MIRT785835	hsa-miR-3664-5p	CLIP-seq
MIRT785836	hsa-miR-371-5p	CLIP-seq
MIRT785837	hsa-miR-371b-5p	CLIP-seq
MIRT2475122	hsa-miR-4252	CLIP-seq
MIRT785838	hsa-miR-4432	CLIP-seq
MIRT785839	hsa-miR-4522	CLIP-seq
MIRT785840	hsa-miR-4701-3p	CLIP-seq
MIRT2475123	hsa-miR-4793-3p	CLIP-seq
MIRT785841	hsa-miR-4797-5p	CLIP-seq
MIRT785842	hsa-miR-499-5p	CLIP-seq
MIRT785843	hsa-miR-508-5p	CLIP-seq
MIRT785844	hsa-miR-542-3p	CLIP-seq
MIRT785845	hsa-miR-661	CLIP-seq
MIRT785846	hsa-miR-766	CLIP-seq
MIRT2675056	hsa-miR-3064-3p	CLIP-seq
MIRT2675057	hsa-miR-3140-3p	CLIP-seq
MIRT2675058	hsa-miR-4422	CLIP-seq

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
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IMP	22946059
GO:0005244	Function	Voltage-gated monoatomic ion channel activity	ISS
GO:0005247	Function	Voltage-gated chloride channel activity	IMP	22006324
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	TAS
GO:0005515	Function	Protein binding	IPI	25589784, 25651887
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21107324, 22946059, 25651887
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	IMP	22006324
GO:0006869	Process	Lipid transport	IEA
GO:0007596	Process	Blood coagulation	ISS
GO:0009986	Component	Cell surface	HDA	19581412
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0017121	Process	Plasma membrane phospholipid scrambling	IMP	25651887, 30700552
GO:0017121	Process	Plasma membrane phospholipid scrambling	ISS
GO:0017128	Function	Phospholipid scramblase activity	IMP	30700552
GO:0017128	Function	Phospholipid scramblase activity	ISS
GO:0030501	Process	Positive regulation of bone mineralization	IMP	25589784
GO:0032060	Process	Bleb assembly	IMP	25651887
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034707	Component	Chloride channel complex	IDA	22006324
GO:0034707	Component	Chloride channel complex	IEA
GO:0034767	Process	Positive regulation of monoatomic ion transmembrane transport	IMP	25651887
GO:0035579	Component	Specific granule membrane	TAS
GO:0035590	Process	Purinergic nucleotide receptor signaling pathway	IMP	25651887
GO:0035725	Process	Sodium ion transmembrane transport	IGI	25589784
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0045794	Process	Negative regulation of cell volume	IMP	25651887
GO:0046872	Function	Metal ion binding	IEA
GO:0046931	Process	Pore complex assembly	IMP	25651887
GO:0046983	Function	Protein dimerization activity	IEA
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	ISS
GO:0061589	Process	Calcium activated phosphatidylserine scrambling	IBA
GO:0061590	Process	Calcium activated phosphatidylcholine scrambling	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0070588	Process	Calcium ion transmembrane transport	IGI	25589784
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0090026	Process	Positive regulation of monocyte chemotaxis	IMP	25651887
GO:0097045	Process	Phosphatidylserine exposure on blood platelet	IMP	21107324
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IGI	25589784
GO:1902476	Process	Chloride transmembrane transport	IMP	22946059
GO:1903766	Process	Positive regulation of potassium ion export across plasma membrane	IEA
GO:1903766	Process	Positive regulation of potassium ion export across plasma membrane	ISS
GO:2000353	Process	Positive regulation of endothelial cell apoptotic process	IMP	22006324

MIM	HGNC	e!Ensembl
608663	25240	ENSG00000177119

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
PF16178	Anoct_dimer	61 → 284	Dimerisation domain of Ca+-activated chloride-channel, anoctamin	Family
PF04547	Anoctamin	287 → 870	Calcium-activated chloride channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in embryonic stem cell, fetal liver, retina, chronic myologenous leukemia and intestinal cancer. {ECO:0000269|PubMed:15067359}.

Sequence

MKKMSRNVLLQMEEEEDDDDGDIVLENLGQTIVPDLGSLESQHDFRTPEFEEFNGKPDSL
FFNDGQRRIDFVLVYEDESRKETNKKGTNEKQRRKRQAYESNLICHGLQLEATRSVLDDK
LVFVKVHAPWEVLCTYAEIMHIKLPLKPNDLKNRSSAFGTLNWFTKVLSVDESIIKPEQE
FFTAPFEKNRMNDFYIVDRDAFFNPATRSRIVYFILSRVKYQVINNVSKFGINRLVNSGI
YKAAFPLHDCKFRRQSEDPSCPNERYLLYREWAHPRSIYKKQPLDLIRKYYGEKIGIYFA
WLGYYTQMLLLAAVVGVACFLYGYLNQDNCTWSKEVCHPDIGGKIIMCPQCDRLCPFWKL
NITCESSKKLCIFDSFGTLVFAVFMGVWVTLFLEFWKRRQAELEYEWDTVELQQEEQARP
EYEARCTHVVINEITQEEERIPFTAWGKCIRITLCASAVFFWILLIIASVIGIIVYRLSV
FIVFSAKLPKNINGTDPIQKYLTPQTATSITASIISFIIIMILNTIYEKVAIMITNFELP
RTQTDYENSLTMKMFLFQFVNYYSSCFYIAFFKGKFVGYPGDPVYWLGKYRNEECDPGGC
LLELTTQLTIIMGGKAIWNNIQEVLLPWIMNLIGRFHRVSGSEKITPRWEQDYHLQPMGK
LGLFYEYLEMIIQFGFVTLFVASFPLAPLLALVNNILEIRVDAWKLTTQFRRLVPEKAQD
IGAWQPIMQGIAILAVVTNAMIIAFTSDMIPRLVYYWSFSVPPYGDHTSYTMEGYINNTL
SIFKVADFKNKSKGNPYSDLGNHTTCRYRDFRYPPGHPQEYKHNIYYWHVIAAKLAFIIV
MEHVIYSVKFFISYAIPDVSKRTKSKIQREKYLTQKLLHENHLKDMTKNMGVIAERMIEA
VDNNLRPKSE

Sequence length

910

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis		Stimuli-sensing channels Neutrophil degranulation

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 RCV003384300 RCV001706657 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs756474608	RCV005931162	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_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	GWASDB_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
Hemorrhage	Hemorrhage	Pubtator	27535140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	23308121	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	25846056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21642943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	25846056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	21642943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31692479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	38238671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30013654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scott Syndrome	Scott Syndrome	ORPHANET_DG	21107324, 21511967		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Scott syndrome	Scott Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Scott Syndrome	Scott Syndrome	BEFREE	21642943, 21958383, 23618909, 26417084, 26481309, 30753537		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Scott Syndrome	Scott Syndrome	GENOMICS_ENGLAND_DG	27879994		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Scott Syndrome	Scott Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sleep Initiation and Maintenance Disorders	Sleep Disorders	GWASCAT_DG	29520036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	23308121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ANO6 (anoctamin 6)