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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26057
Gene name	Ankyrin repeat domain 17
Gene symbol	ANKRD17
Synonyms (NCBI Gene)	CAGSGTARMASK2NY-BR-16
Chromosome	4
Chromosome location	4q13.3
Summary	The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also con

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023473	hsa-miR-23b-3p	Sequencing	20371350
MIRT023980	hsa-miR-1-3p	Proteomics	18668040
MIRT031910	hsa-miR-16-5p	Proteomics	18668040
MIRT052463	hsa-let-7a-5p	CLASH	23622248
MIRT052463	hsa-let-7a-5p	CLASH	23622248
MIRT052283	hsa-let-7b-5p	CLASH	23622248
MIRT051812	hsa-let-7c-5p	CLASH	23622248
MIRT045049	hsa-miR-186-5p	CLASH	23622248
MIRT042449	hsa-miR-424-5p	CLASH	23622248
MIRT449017	hsa-miR-6504-3p	PAR-CLIP	22100165
MIRT449016	hsa-miR-885-5p	PAR-CLIP	22100165
MIRT449015	hsa-miR-101-3p	PAR-CLIP	22100165
MIRT449014	hsa-miR-582-5p	PAR-CLIP	22100165
MIRT449017	hsa-miR-6504-3p	PAR-CLIP	22100165
MIRT449016	hsa-miR-885-5p	PAR-CLIP	22100165
MIRT449015	hsa-miR-101-3p	PAR-CLIP	22100165
MIRT449014	hsa-miR-582-5p	PAR-CLIP	22100165
MIRT449013	hsa-miR-4699-3p	PAR-CLIP	22100165
MIRT449012	hsa-miR-549a	PAR-CLIP	22100165
MIRT449011	hsa-miR-579-3p	PAR-CLIP	22100165
MIRT449010	hsa-miR-664b-3p	PAR-CLIP	22100165
MIRT449017	hsa-miR-6504-3p	PAR-CLIP	22100165
MIRT449016	hsa-miR-885-5p	PAR-CLIP	22100165
MIRT449015	hsa-miR-101-3p	PAR-CLIP	22100165
MIRT449014	hsa-miR-582-5p	PAR-CLIP	22100165
MIRT449017	hsa-miR-6504-3p	PAR-CLIP	22100165
MIRT449016	hsa-miR-885-5p	PAR-CLIP	22100165
MIRT449015	hsa-miR-101-3p	PAR-CLIP	22100165
MIRT449014	hsa-miR-582-5p	PAR-CLIP	22100165
MIRT449013	hsa-miR-4699-3p	PAR-CLIP	22100165
MIRT449012	hsa-miR-549a	PAR-CLIP	22100165
MIRT449011	hsa-miR-579-3p	PAR-CLIP	22100165
MIRT449010	hsa-miR-664b-3p	PAR-CLIP	22100165
MIRT756023	hsa-miR-493-5p	Luciferase reporter assayqRT-PCR	37178193
MIRT782912	hsa-miR-101	CLIP-seq
MIRT782913	hsa-miR-105	CLIP-seq
MIRT782914	hsa-miR-1178	CLIP-seq
MIRT782915	hsa-miR-1197	CLIP-seq
MIRT782916	hsa-miR-1252	CLIP-seq
MIRT782917	hsa-miR-1264	CLIP-seq
MIRT782918	hsa-miR-1283	CLIP-seq
MIRT782919	hsa-miR-1292	CLIP-seq
MIRT782920	hsa-miR-144	CLIP-seq
MIRT782921	hsa-miR-199a-3p	CLIP-seq
MIRT782922	hsa-miR-199b-3p	CLIP-seq
MIRT782923	hsa-miR-2110	CLIP-seq
MIRT782924	hsa-miR-221	CLIP-seq
MIRT782925	hsa-miR-222	CLIP-seq
MIRT782926	hsa-miR-223	CLIP-seq
MIRT782927	hsa-miR-2276	CLIP-seq
MIRT782928	hsa-miR-23a	CLIP-seq
MIRT782929	hsa-miR-23b	CLIP-seq
MIRT782930	hsa-miR-23c	CLIP-seq
MIRT782931	hsa-miR-298	CLIP-seq
MIRT782932	hsa-miR-299-3p	CLIP-seq
MIRT782933	hsa-miR-3120-5p	CLIP-seq
MIRT782934	hsa-miR-3122	CLIP-seq
MIRT782935	hsa-miR-3129-5p	CLIP-seq
MIRT782936	hsa-miR-3133	CLIP-seq
MIRT782937	hsa-miR-3151	CLIP-seq
MIRT782938	hsa-miR-3153	CLIP-seq
MIRT782939	hsa-miR-3156-5p	CLIP-seq
MIRT782940	hsa-miR-3163	CLIP-seq
MIRT782941	hsa-miR-3182	CLIP-seq
MIRT782942	hsa-miR-323b-3p	CLIP-seq
MIRT782943	hsa-miR-329	CLIP-seq
MIRT782944	hsa-miR-342-3p	CLIP-seq
MIRT782945	hsa-miR-3618	CLIP-seq
MIRT782946	hsa-miR-362-3p	CLIP-seq
MIRT782947	hsa-miR-365	CLIP-seq
MIRT782948	hsa-miR-3653	CLIP-seq
MIRT782949	hsa-miR-3658	CLIP-seq
MIRT782950	hsa-miR-3676	CLIP-seq
MIRT782951	hsa-miR-3689a-3p	CLIP-seq
MIRT782952	hsa-miR-3689c	CLIP-seq
MIRT782953	hsa-miR-3913-5p	CLIP-seq
MIRT782954	hsa-miR-3941	CLIP-seq
MIRT782955	hsa-miR-421	CLIP-seq
MIRT782956	hsa-miR-4261	CLIP-seq
MIRT782957	hsa-miR-4271	CLIP-seq
MIRT782958	hsa-miR-4300	CLIP-seq
MIRT782959	hsa-miR-4312	CLIP-seq
MIRT782960	hsa-miR-4427	CLIP-seq
MIRT782961	hsa-miR-4447	CLIP-seq
MIRT782962	hsa-miR-4452	CLIP-seq
MIRT782963	hsa-miR-4471	CLIP-seq
MIRT782964	hsa-miR-4472	CLIP-seq
MIRT782965	hsa-miR-4496	CLIP-seq
MIRT782966	hsa-miR-4504	CLIP-seq
MIRT782967	hsa-miR-4517	CLIP-seq
MIRT782968	hsa-miR-455-5p	CLIP-seq
MIRT782969	hsa-miR-4639-5p	CLIP-seq
MIRT782970	hsa-miR-4641	CLIP-seq
MIRT782971	hsa-miR-4646-5p	CLIP-seq
MIRT782972	hsa-miR-4659a-3p	CLIP-seq
MIRT782973	hsa-miR-4659b-3p	CLIP-seq
MIRT782974	hsa-miR-4680-3p	CLIP-seq
MIRT782975	hsa-miR-4704-3p	CLIP-seq
MIRT782976	hsa-miR-4709-5p	CLIP-seq
MIRT782977	hsa-miR-4725-3p	CLIP-seq
MIRT782978	hsa-miR-4728-3p	CLIP-seq
MIRT782979	hsa-miR-4762-3p	CLIP-seq
MIRT782980	hsa-miR-4772-3p	CLIP-seq
MIRT782981	hsa-miR-4773	CLIP-seq
MIRT782982	hsa-miR-4775	CLIP-seq
MIRT782983	hsa-miR-4778-3p	CLIP-seq
MIRT782984	hsa-miR-491-5p	CLIP-seq
MIRT782985	hsa-miR-493	CLIP-seq
MIRT782986	hsa-miR-494	CLIP-seq
MIRT782987	hsa-miR-511	CLIP-seq
MIRT782988	hsa-miR-513a-3p	CLIP-seq
MIRT782989	hsa-miR-544	CLIP-seq
MIRT782990	hsa-miR-548aa	CLIP-seq
MIRT782991	hsa-miR-548v	CLIP-seq
MIRT782992	hsa-miR-550a	CLIP-seq
MIRT782993	hsa-miR-587	CLIP-seq
MIRT782994	hsa-miR-590-3p	CLIP-seq
MIRT782995	hsa-miR-603	CLIP-seq
MIRT782996	hsa-miR-628-5p	CLIP-seq
MIRT782997	hsa-miR-920	CLIP-seq
MIRT782998	hsa-miR-934	CLIP-seq
MIRT782999	hsa-miR-935	CLIP-seq
MIRT783000	hsa-miR-936	CLIP-seq
MIRT783001	hsa-miR-944	CLIP-seq
MIRT782923	hsa-miR-2110	CLIP-seq
MIRT782956	hsa-miR-4261	CLIP-seq
MIRT782957	hsa-miR-4271	CLIP-seq
MIRT782972	hsa-miR-4659a-3p	CLIP-seq
MIRT782973	hsa-miR-4659b-3p	CLIP-seq
MIRT782977	hsa-miR-4725-3p	CLIP-seq
MIRT1931057	hsa-miR-4729	CLIP-seq
MIRT782982	hsa-miR-4775	CLIP-seq
MIRT782986	hsa-miR-494	CLIP-seq
MIRT782988	hsa-miR-513a-3p	CLIP-seq
MIRT782982	hsa-miR-4775	CLIP-seq
MIRT782994	hsa-miR-590-3p	CLIP-seq
MIRT782956	hsa-miR-4261	CLIP-seq
MIRT782975	hsa-miR-4704-3p	CLIP-seq
MIRT782982	hsa-miR-4775	CLIP-seq
MIRT782986	hsa-miR-494	CLIP-seq
MIRT782917	hsa-miR-1264	CLIP-seq
MIRT2171663	hsa-miR-140-5p	CLIP-seq
MIRT2171664	hsa-miR-3545-5p	CLIP-seq
MIRT782945	hsa-miR-3618	CLIP-seq
MIRT2171665	hsa-miR-4460	CLIP-seq
MIRT2171666	hsa-miR-4727-3p	CLIP-seq
MIRT782982	hsa-miR-4775	CLIP-seq
MIRT782994	hsa-miR-590-3p	CLIP-seq
MIRT2474693	hsa-miR-1261	CLIP-seq
MIRT782917	hsa-miR-1264	CLIP-seq
MIRT2474694	hsa-miR-1272	CLIP-seq
MIRT2474695	hsa-miR-1279	CLIP-seq
MIRT2171663	hsa-miR-140-5p	CLIP-seq
MIRT2474696	hsa-miR-185	CLIP-seq
MIRT2474697	hsa-miR-203	CLIP-seq
MIRT2474698	hsa-miR-30a	CLIP-seq
MIRT2474699	hsa-miR-30b	CLIP-seq
MIRT2474700	hsa-miR-30c	CLIP-seq
MIRT2474701	hsa-miR-30d	CLIP-seq
MIRT2474702	hsa-miR-30e	CLIP-seq
MIRT2474703	hsa-miR-3129-3p	CLIP-seq
MIRT782936	hsa-miR-3133	CLIP-seq
MIRT2474704	hsa-miR-3150b-3p	CLIP-seq
MIRT782938	hsa-miR-3153	CLIP-seq
MIRT2474705	hsa-miR-3161	CLIP-seq
MIRT2474706	hsa-miR-3173-3p	CLIP-seq
MIRT2474707	hsa-miR-323-3p	CLIP-seq
MIRT2171664	hsa-miR-3545-5p	CLIP-seq
MIRT2474708	hsa-miR-3614-3p	CLIP-seq
MIRT2474709	hsa-miR-361-5p	CLIP-seq
MIRT2474710	hsa-miR-3662	CLIP-seq
MIRT2474711	hsa-miR-3682-3p	CLIP-seq
MIRT2474712	hsa-miR-380	CLIP-seq
MIRT2474713	hsa-miR-3924	CLIP-seq
MIRT782955	hsa-miR-421	CLIP-seq
MIRT782957	hsa-miR-4271	CLIP-seq
MIRT2474714	hsa-miR-4306	CLIP-seq
MIRT2474715	hsa-miR-432	CLIP-seq
MIRT2474716	hsa-miR-4428	CLIP-seq
MIRT2171665	hsa-miR-4460	CLIP-seq
MIRT2474717	hsa-miR-4495	CLIP-seq
MIRT782969	hsa-miR-4639-5p	CLIP-seq
MIRT2474718	hsa-miR-4644	CLIP-seq
MIRT2474719	hsa-miR-4652-3p	CLIP-seq
MIRT2474720	hsa-miR-4659a-5p	CLIP-seq
MIRT2474721	hsa-miR-4659b-5p	CLIP-seq
MIRT2474722	hsa-miR-4689	CLIP-seq
MIRT782976	hsa-miR-4709-5p	CLIP-seq
MIRT782977	hsa-miR-4725-3p	CLIP-seq
MIRT2171666	hsa-miR-4727-3p	CLIP-seq
MIRT1931057	hsa-miR-4729	CLIP-seq
MIRT2474723	hsa-miR-4742-3p	CLIP-seq
MIRT782981	hsa-miR-4773	CLIP-seq
MIRT2474724	hsa-miR-4774-5p	CLIP-seq
MIRT782982	hsa-miR-4775	CLIP-seq
MIRT2474725	hsa-miR-4776-3p	CLIP-seq
MIRT782983	hsa-miR-4778-3p	CLIP-seq
MIRT2474726	hsa-miR-4784	CLIP-seq
MIRT2474727	hsa-miR-4799-5p	CLIP-seq
MIRT2474728	hsa-miR-5096	CLIP-seq
MIRT782988	hsa-miR-513a-3p	CLIP-seq
MIRT782989	hsa-miR-544	CLIP-seq
MIRT2474729	hsa-miR-548a-3p	CLIP-seq
MIRT782990	hsa-miR-548aa	CLIP-seq
MIRT2474730	hsa-miR-548ad	CLIP-seq
MIRT2474731	hsa-miR-548ag	CLIP-seq
MIRT2474732	hsa-miR-548ai	CLIP-seq
MIRT2474733	hsa-miR-548e	CLIP-seq
MIRT2474734	hsa-miR-548f	CLIP-seq
MIRT2474735	hsa-miR-548m	CLIP-seq
MIRT782994	hsa-miR-590-3p	CLIP-seq
MIRT2474693	hsa-miR-1261	CLIP-seq
MIRT2474695	hsa-miR-1279	CLIP-seq
MIRT2171663	hsa-miR-140-5p	CLIP-seq
MIRT2474696	hsa-miR-185	CLIP-seq
MIRT2474697	hsa-miR-203	CLIP-seq
MIRT2474698	hsa-miR-30a	CLIP-seq
MIRT2474699	hsa-miR-30b	CLIP-seq
MIRT2474700	hsa-miR-30c	CLIP-seq
MIRT2474701	hsa-miR-30d	CLIP-seq
MIRT2474702	hsa-miR-30e	CLIP-seq
MIRT2474703	hsa-miR-3129-3p	CLIP-seq
MIRT782936	hsa-miR-3133	CLIP-seq
MIRT2474704	hsa-miR-3150b-3p	CLIP-seq
MIRT782938	hsa-miR-3153	CLIP-seq
MIRT2474705	hsa-miR-3161	CLIP-seq
MIRT2474706	hsa-miR-3173-3p	CLIP-seq
MIRT2474707	hsa-miR-323-3p	CLIP-seq
MIRT2171664	hsa-miR-3545-5p	CLIP-seq
MIRT2474708	hsa-miR-3614-3p	CLIP-seq
MIRT2474709	hsa-miR-361-5p	CLIP-seq
MIRT2474710	hsa-miR-3662	CLIP-seq
MIRT2474712	hsa-miR-380	CLIP-seq
MIRT2474713	hsa-miR-3924	CLIP-seq
MIRT782955	hsa-miR-421	CLIP-seq
MIRT782957	hsa-miR-4271	CLIP-seq
MIRT2474714	hsa-miR-4306	CLIP-seq
MIRT2474715	hsa-miR-432	CLIP-seq
MIRT2474716	hsa-miR-4428	CLIP-seq
MIRT2171665	hsa-miR-4460	CLIP-seq
MIRT2675020	hsa-miR-4477a	CLIP-seq
MIRT2474717	hsa-miR-4495	CLIP-seq
MIRT782969	hsa-miR-4639-5p	CLIP-seq
MIRT2474718	hsa-miR-4644	CLIP-seq
MIRT2474719	hsa-miR-4652-3p	CLIP-seq
MIRT2474720	hsa-miR-4659a-5p	CLIP-seq
MIRT2474721	hsa-miR-4659b-5p	CLIP-seq
MIRT2474722	hsa-miR-4689	CLIP-seq
MIRT782976	hsa-miR-4709-5p	CLIP-seq
MIRT782977	hsa-miR-4725-3p	CLIP-seq
MIRT2171666	hsa-miR-4727-3p	CLIP-seq
MIRT1931057	hsa-miR-4729	CLIP-seq
MIRT782981	hsa-miR-4773	CLIP-seq
MIRT2474724	hsa-miR-4774-5p	CLIP-seq
MIRT782982	hsa-miR-4775	CLIP-seq
MIRT2474725	hsa-miR-4776-3p	CLIP-seq
MIRT782983	hsa-miR-4778-3p	CLIP-seq
MIRT2474726	hsa-miR-4784	CLIP-seq
MIRT2474727	hsa-miR-4799-5p	CLIP-seq
MIRT2474728	hsa-miR-5096	CLIP-seq
MIRT782989	hsa-miR-544	CLIP-seq
MIRT2474729	hsa-miR-548a-3p	CLIP-seq
MIRT782990	hsa-miR-548aa	CLIP-seq
MIRT2474730	hsa-miR-548ad	CLIP-seq
MIRT2474731	hsa-miR-548ag	CLIP-seq
MIRT2474732	hsa-miR-548ai	CLIP-seq
MIRT2474733	hsa-miR-548e	CLIP-seq
MIRT2474734	hsa-miR-548f	CLIP-seq
MIRT2474735	hsa-miR-548m	CLIP-seq
MIRT2675021	hsa-miR-568	CLIP-seq
MIRT782994	hsa-miR-590-3p	CLIP-seq
MIRT2675022	hsa-miR-643	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	19150984
GO:0002376	Process	Immune system process	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003682	Function	Chromatin binding	IDA	19150984
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	19150984, 22328336, 23711367
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19150984, 22328336
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	22328336
GO:0005737	Component	Cytoplasm	IEA
GO:0006275	Process	Regulation of DNA replication	IMP	19150984
GO:0016020	Component	Membrane	HDA	19946888
GO:0031965	Component	Nuclear membrane	IDA
GO:0042742	Process	Defense response to bacterium	IDA	23711367
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	22328336
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IDA	23711367
GO:0045087	Process	Innate immune response	IEA
GO:0045787	Process	Positive regulation of cell cycle	IMP	19150984
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IMP	19150984
GO:1900245	Process	Positive regulation of MDA-5 signaling pathway	IDA	22328336
GO:1900246	Process	Positive regulation of RIG-I signaling pathway	IDA	22328336

MIM	HGNC	e!Ensembl
615929	23575	ENSG00000132466

O75179

Protein name

Ankyrin repeat domain-containing protein 17 (Gene trap ankyrin repeat protein) (Serologically defined breast cancer antigen NY-BR-16)

Protein function

Could play pivotal roles in cell cycle and DNA regulation (PubMed:19150984). Involved in innate immune defense against viruse by positively regulating the viral dsRNA receptors DDX58 and IFIH1 signaling pathways (PubMed:22328336). Involves in NO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	238 → 331	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	324 → 397	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	392 → 464	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	463 → 530	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	568 → 660	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	658 → 725	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	1065 → 1146	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	1144 → 1213	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	1222 → 1315	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	1324 → 1414	Ankyrin repeats (3 copies)	Repeat
PF00013	KH_1	1727 → 1791	KH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:17276651, ECO:0000269|PubMed:19150984}.

Sequence

MEKATVPVAAATAAEGEGSPPAVAAVAGPPAAAEVGGGVGGSSRARSASSPRGMVRVCDL
LLKKKPPQQQHHKAKRNRTCRPPSSSESSSDSDNSGGGGGGGGGGGGGGGTSSNNSEEEE
DDDDEEEEVSEVESFILDQDDLENPMLETASKLLLSGTADGADLRTVDPETQARLEALLE
AAGIGKLSTADGKAFADPEVLRRLTSSVSCALDEAAAALTRMRAESTANAGQSDNRSLAE
ACSEGDVNAVRKLLIEGRSVNEHTEEGESLLCLACSAGYYELAQVLLAMHANVEDRGIKG
DITPLMAAANGGHVKIVKLLLAHKADVNAQSSTGNTALTYACAGGYVDVVKVLLESGASI
EDHNENGHTPLMEAGSAGHVEVARLLLENGAGINTHSNEFKESALTLACYKGHLEMVRFL
LEAGADQEHKTDEMHTALMEACMDGHVEVARLLLDSGAQVNMPADSFESPLTLAACGGHV
ELAALLIERGASLEEVNDEGYTPLMEAAREGHEEMVALLLGQGANINAQTEETQETALTL
ACCGGFLEVADFLIKAGADIELGCSTPLMEAAQEGHLELVKYLLAAGANVHATTATGDTA
LTYACENGHTDVADVLLQAGADLEHESEGGRTPLMKAARAGHVCTVQFLISKGANVNRTT
ANNDHTVLSLACAGGHLAVVELLLAHGADPTHRLKDGSTMLIEAAKGGHTSVVCYLLDYP
NNLLSAPPPDVTQLTPPSHDLNRAPRVPVQALPMVVPPQEPDKPPANVATTLPIRNKAAS
KQKSSSHLPANSQDVQGYITNQSPESIVEEAQGKLTELEQRIKEAIEKNAQLQSLELAHA
DQLTKEKIEELNKTREEQIQKKQKILEELQKVERELQLKTQQQLKKQYLEVKAQRIQLQQ
QQQQSCQHLGLLTPVGVGEQLSEGDYARLQQVDPVLLKDEPQQTAAQMGFAPIQPLAMPQ
ALPLAAGPLPPGSIANLTELQGVIVGQPVLGQAQLAGLGQGILTETQQGLMVASPAQTLN
DTLDDIMAAVSGRASAMSNTPTHSIAASISQPQTPTPSPIISPSAMLPIYPAIDIDAQTE
SNHDTALTLACAGGHEELVQTLLERGASIEHRDKKGFTPLILAATAGHVGVVEILLDNGA
DIEAQSERTKDTPLSLACSGGRQEVVELLLARGANKEHRNVSDYTPLSLAASGGYVNIIK
ILLNAGAEINSRTGSKLGISPLMLAAMNGHTAAVKLLLDMGSDINAQIETNRNTALTLAC
FQGRTEVVSLLLDRKANVEHRAKTGLTPLMEAASGGYAEVGRVLLDKGADVNAPPVPSSR
DTALTIAADKGHYKFCELLIGRGAHIDVRNKKGNTPLWLAANGGHLDVVQLLVQAGADVD
AADNRKITPLMAAFRKGHVKVVRYLVKEVNQFPSDSECMRYIATITDKEMLKKCHLCMES
IVQAKDRQAAEANKNASILLEELDLEKLREESRRLALAAKREKRKEKRRKKKEEQRRKLE
EIEAKNKENFELQAAQEKEKLKVEDEPEVLTEPPSATTTTTIGISATWTTLAGSHGKRNN
TITTTSSKRKNRKNKITPENVQIIFDDPLPISYSQPEKVNGESKSSSTSESGDSDNMRIS
SCSDESSNSNSSRKSDNHSPAVVTTTVSSKKQPSVLVTFPKEERKSVSGKASIKLSETIS
EGTSNSLSTCTKSGPSPLSSPNGKLTVASPKRGQKREEGWKEVVRRSKKVSVPSTVISRV
IGRGGCNINAIREFTGAHIDIDKQKDKTGDRIITIRGGTESTRQATQLINALIKDPDKEI
DELIPKNRLKSSSANSKIGSSAPTTTAANTSLMGIKMTTVALSSTSQTATALTVPAISSA
STHKTIKNPVNNVRPGFPVSLPLAYPPPQFAHALLAAQTFQQIRPPRLPMTHFGGTFPPA
QSTWGPFPVRPLSPARATNSPKPHMVPRHSNQNSSGSQVNSAGSLTSSPTTTTSSSASTV
PGTSTNGSPSSPSVRRQLFVTVVKTSNATTTTVTTTASNNNTAPTNATYPMPTAKEHYPV
SSPSSPSPPAQPGGVSRNSPLDCGSASPNKVASSSEQEAGSPPVVETTNTRPPNSSSSSG
SSSAHSNQQQPPGSVSQEPRPPLQQSQVPPPEVRMTVPPLATSSAPVAVPSTAPVTYPMP
QTPMGCPQPTPKMETPAIRPPPHGTTAPHKNSASVQNSSVAVLSVNHIKRPHSVPSSVQL
PSTLSTQSACQNSVHPANKPIAPNFSAPLPFGPFSTLFENSPTSAHAFWGGSVVSSQSTP
ESMLSGKSSYLPNSDPLHQSDTSKAPGFRPPLQRPAPSPSGIVNMDSPYGSVTPSSTHLG
NFASNISGGQMYGPGAPLGGAPAAANFNRQHFSPLSLLTPCSSASNDSSAQSVSSGVRAP
SPAPSSVPLGSEKPSNVSQDRKVPVPIGTERSARIRQTGTSAPSVIGSNLSTSVGHSGIW
SFEGIGGNQDKVDWCNPGMGNPMIHRPMSDPGVFSQHQAMERDSTGIVTPSGTFHQHVPA
GYMDFPKVGGMPFSVYGNAMIPPVAPIPDGAGGPIFNGPHAADPSWNSLIKMVSSSTENN
GPQTVWTGPWAPHMNSVHMNQLG

Sequence length

2603

Interactions

View interactions

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chopra-Amiel-Gordon syndrome	Pathogenic; Likely pathogenic	rs2148823868, rs2148684587, rs2148661856, rs2148721126, rs2110167415, rs1723542820, rs2148719956, rs2148854716, rs2110165980, rs2148821952, rs2148701869, rs143161842, rs2148611909, rs2148684659, rs1722731535 View all (9 more)	RCV001591777 RCV001591778 RCV001591779 RCV005255490 RCV001785402 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1722830922	RCV001007894	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2148719433	RCV002274308	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

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.
ANKRD17-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and oral cavity carcinoma	association	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	association	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	27526934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20593048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental caries of smooth surface	Dental caries	GWASCAT_DG	24556642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33909992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33909992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32299451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	32299451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32299451, 33909992	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	33909992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28580594		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28580594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20593048		★★★★★ ★☆☆☆☆ Found in Text Mining only

ANKRD17 (ankyrin repeat domain 17)