AK2 (adenylate kinase 2)

Gene

• Entrez ID: 204
• Gene name: Adenylate kinase 2
• Gene symbol: AK2
• Synonyms (NCBI Gene): ADK2
• Chromosome: 1
• Chromosome location: 1p35.1
• Summary: Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61750965	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs137853206	T>C	Pathogenic	5 prime UTR variant, initiator codon variant, missense variant, non coding transcript variant
rs267606643	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs267606645	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs267606646	T>A	Pathogenic	3 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs267606647	C>A,G,T	Pathogenic, likely-benign	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs267606648	G>A,C,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs387906581	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs559947967	G>A,T	Likely-pathogenic	3 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs777503956	C>T	Pathogenic	Splice donor variant
rs1192619329	C>G,T	Pathogenic	Intron variant, splice acceptor variant
rs1553150995	G>-	Pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1553151177	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557611080	A>-	Likely-pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002707	hsa-miR-124-3p	Microarray	15685193
MIRT002707	hsa-miR-124-3p	Microarray;Other	15685193
MIRT027808	hsa-miR-98-5p	Microarray	19088304
MIRT028621	hsa-miR-30a-5p	Proteomics	18668040
MIRT032010	hsa-miR-16-5p	Proteomics	18668040
MIRT049390	hsa-miR-92a-3p	CLASH	23622248
MIRT044881	hsa-miR-193a-3p	CLASH	23622248
MIRT044754	hsa-miR-320a	CLASH	23622248
MIRT669596	hsa-miR-34a-3p	HITS-CLIP	23824327
MIRT669595	hsa-miR-3938	HITS-CLIP	23824327
MIRT669594	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT669593	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT669592	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT669591	hsa-miR-4287	HITS-CLIP	23824327
MIRT669590	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT669589	hsa-miR-7515	HITS-CLIP	23824327
MIRT669588	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669587	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT669586	hsa-miR-623	HITS-CLIP	23824327
MIRT669585	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT669584	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT669583	hsa-miR-587	HITS-CLIP	23824327
MIRT669582	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT669581	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT669580	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660795	hsa-miR-454-5p	HITS-CLIP	23824327
MIRT660794	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT340281	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT660793	hsa-miR-653-5p	HITS-CLIP	23824327
MIRT482167	hsa-miR-8080	PAR-CLIP	23592263
MIRT482168	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT482166	hsa-miR-4704-3p	PAR-CLIP	23592263
MIRT482165	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT482164	hsa-miR-580-3p	PAR-CLIP	23592263
MIRT482163	hsa-miR-3978	PAR-CLIP	23592263
MIRT482162	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT482161	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT374549	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT482160	hsa-miR-1321	PAR-CLIP	23592263
MIRT482159	hsa-miR-4739	PAR-CLIP	23592263
MIRT482158	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT482157	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT482156	hsa-miR-3130-3p	PAR-CLIP	23592263
MIRT482155	hsa-miR-4793-3p	PAR-CLIP	23592263
MIRT482154	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT482153	hsa-miR-4468	PAR-CLIP	23592263
MIRT374542	hsa-miR-4419a	PAR-CLIP	23592263
MIRT374544	hsa-miR-4510	PAR-CLIP	23592263
MIRT374545	hsa-miR-6127	PAR-CLIP	23592263
MIRT374546	hsa-miR-6129	PAR-CLIP	23592263
MIRT374547	hsa-miR-6130	PAR-CLIP	23592263
MIRT374548	hsa-miR-6133	PAR-CLIP	23592263
MIRT482152	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT482151	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT482150	hsa-miR-298	PAR-CLIP	23592263
MIRT482148	hsa-miR-6081	PAR-CLIP	23592263
MIRT482149	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT482147	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT482146	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT482145	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT482144	hsa-miR-4710	PAR-CLIP	23592263
MIRT482143	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT482142	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT669596	hsa-miR-34a-3p	HITS-CLIP	23824327
MIRT669595	hsa-miR-3938	HITS-CLIP	23824327
MIRT669594	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT669593	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT669592	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT669591	hsa-miR-4287	HITS-CLIP	23824327
MIRT669590	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT669589	hsa-miR-7515	HITS-CLIP	23824327
MIRT669588	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669587	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT669586	hsa-miR-623	HITS-CLIP	23824327
MIRT669585	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT669584	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT669583	hsa-miR-587	HITS-CLIP	23824327
MIRT669582	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT669581	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT669580	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660795	hsa-miR-454-5p	HITS-CLIP	23824327
MIRT660794	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT340281	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT660793	hsa-miR-653-5p	HITS-CLIP	23824327
MIRT482167	hsa-miR-8080	PAR-CLIP	23592263
MIRT482168	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT482166	hsa-miR-4704-3p	PAR-CLIP	23592263
MIRT482165	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT482164	hsa-miR-580-3p	PAR-CLIP	23592263
MIRT482163	hsa-miR-3978	PAR-CLIP	23592263
MIRT482162	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT482161	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT374549	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT482160	hsa-miR-1321	PAR-CLIP	23592263
MIRT482159	hsa-miR-4739	PAR-CLIP	23592263
MIRT482158	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT482157	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT482156	hsa-miR-3130-3p	PAR-CLIP	23592263
MIRT482155	hsa-miR-4793-3p	PAR-CLIP	23592263
MIRT482154	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT482153	hsa-miR-4468	PAR-CLIP	23592263
MIRT374542	hsa-miR-4419a	PAR-CLIP	23592263
MIRT374544	hsa-miR-4510	PAR-CLIP	23592263
MIRT374545	hsa-miR-6127	PAR-CLIP	23592263
MIRT374546	hsa-miR-6129	PAR-CLIP	23592263
MIRT374547	hsa-miR-6130	PAR-CLIP	23592263
MIRT374548	hsa-miR-6133	PAR-CLIP	23592263
MIRT482152	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT482151	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT482150	hsa-miR-298	PAR-CLIP	23592263
MIRT482148	hsa-miR-6081	PAR-CLIP	23592263
MIRT482149	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT482147	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT482146	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT482145	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT482144	hsa-miR-4710	PAR-CLIP	23592263
MIRT482143	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT482142	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT774618	hsa-miR-1225-3p	CLIP-seq
MIRT774619	hsa-miR-1226	CLIP-seq
MIRT774620	hsa-miR-1233	CLIP-seq
MIRT774621	hsa-miR-197	CLIP-seq
MIRT774622	hsa-miR-198	CLIP-seq
MIRT774623	hsa-miR-3143	CLIP-seq
MIRT774624	hsa-miR-3162-3p	CLIP-seq
MIRT774625	hsa-miR-335	CLIP-seq
MIRT774626	hsa-miR-3691-3p	CLIP-seq
MIRT774627	hsa-miR-3921	CLIP-seq
MIRT774628	hsa-miR-4303	CLIP-seq
MIRT774629	hsa-miR-4535	CLIP-seq
MIRT774630	hsa-miR-455-3p	CLIP-seq
MIRT774631	hsa-miR-4653-5p	CLIP-seq
MIRT774632	hsa-miR-4733-3p	CLIP-seq
MIRT774633	hsa-miR-4749-3p	CLIP-seq
MIRT774634	hsa-miR-4776-5p	CLIP-seq
MIRT774635	hsa-miR-4803	CLIP-seq
MIRT774636	hsa-miR-492	CLIP-seq
MIRT774637	hsa-miR-501-3p	CLIP-seq
MIRT774638	hsa-miR-502-3p	CLIP-seq
MIRT774639	hsa-miR-5096	CLIP-seq
MIRT774640	hsa-miR-520a-5p	CLIP-seq
MIRT774641	hsa-miR-525-5p	CLIP-seq
MIRT774642	hsa-miR-590-3p	CLIP-seq
MIRT774643	hsa-miR-890	CLIP-seq
MIRT774644	hsa-miR-1224-3p	CLIP-seq
MIRT774618	hsa-miR-1225-3p	CLIP-seq
MIRT774620	hsa-miR-1233	CLIP-seq
MIRT774645	hsa-miR-1260	CLIP-seq
MIRT774646	hsa-miR-1260b	CLIP-seq
MIRT774647	hsa-miR-1280	CLIP-seq
MIRT774648	hsa-miR-1286	CLIP-seq
MIRT774649	hsa-miR-1293	CLIP-seq
MIRT774650	hsa-miR-1303	CLIP-seq
MIRT774651	hsa-miR-150	CLIP-seq
MIRT774652	hsa-miR-1827	CLIP-seq
MIRT774653	hsa-miR-188-3p	CLIP-seq
MIRT774654	hsa-miR-2114	CLIP-seq
MIRT774655	hsa-miR-2467-3p	CLIP-seq
MIRT774656	hsa-miR-299-5p	CLIP-seq
MIRT774657	hsa-miR-302a	CLIP-seq
MIRT774658	hsa-miR-302b	CLIP-seq
MIRT774659	hsa-miR-302c	CLIP-seq
MIRT774660	hsa-miR-302d	CLIP-seq
MIRT774661	hsa-miR-302e	CLIP-seq
MIRT774662	hsa-miR-3064-3p	CLIP-seq
MIRT774663	hsa-miR-3074-3p	CLIP-seq
MIRT774664	hsa-miR-3152-5p	CLIP-seq
MIRT774665	hsa-miR-3156-3p	CLIP-seq
MIRT774666	hsa-miR-3157-5p	CLIP-seq
MIRT774667	hsa-miR-3166	CLIP-seq
MIRT774668	hsa-miR-3183	CLIP-seq
MIRT774669	hsa-miR-320b	CLIP-seq
MIRT774670	hsa-miR-320c	CLIP-seq
MIRT774671	hsa-miR-320d	CLIP-seq
MIRT774672	hsa-miR-320e	CLIP-seq
MIRT774673	hsa-miR-3607-3p	CLIP-seq
MIRT774674	hsa-miR-3612	CLIP-seq
MIRT774675	hsa-miR-3614-5p	CLIP-seq
MIRT774676	hsa-miR-3619-3p	CLIP-seq
MIRT774677	hsa-miR-3622b-5p	CLIP-seq
MIRT774678	hsa-miR-3664-3p	CLIP-seq
MIRT774679	hsa-miR-3680	CLIP-seq
MIRT774680	hsa-miR-3686	CLIP-seq
MIRT774681	hsa-miR-3688-5p	CLIP-seq
MIRT774682	hsa-miR-3714	CLIP-seq
MIRT774683	hsa-miR-372	CLIP-seq
MIRT774684	hsa-miR-373	CLIP-seq
MIRT774685	hsa-miR-3915	CLIP-seq
MIRT774686	hsa-miR-3928	CLIP-seq
MIRT774687	hsa-miR-3934	CLIP-seq
MIRT774688	hsa-miR-3973	CLIP-seq
MIRT774689	hsa-miR-4252	CLIP-seq
MIRT774690	hsa-miR-4257	CLIP-seq
MIRT774691	hsa-miR-4317	CLIP-seq
MIRT774692	hsa-miR-4323	CLIP-seq
MIRT774693	hsa-miR-4429	CLIP-seq
MIRT774694	hsa-miR-4433	CLIP-seq
MIRT774695	hsa-miR-4436a	CLIP-seq
MIRT774696	hsa-miR-4459	CLIP-seq
MIRT774697	hsa-miR-4474-3p	CLIP-seq
MIRT774698	hsa-miR-4481	CLIP-seq
MIRT774699	hsa-miR-4483	CLIP-seq
MIRT774700	hsa-miR-4490	CLIP-seq
MIRT774629	hsa-miR-4535	CLIP-seq
MIRT774701	hsa-miR-4645-5p	CLIP-seq
MIRT774702	hsa-miR-4652-3p	CLIP-seq
MIRT774703	hsa-miR-4653-3p	CLIP-seq
MIRT774704	hsa-miR-4673	CLIP-seq
MIRT774705	hsa-miR-4677-3p	CLIP-seq
MIRT774706	hsa-miR-4679	CLIP-seq
MIRT774707	hsa-miR-4691-3p	CLIP-seq
MIRT774708	hsa-miR-4693-3p	CLIP-seq
MIRT774709	hsa-miR-4695-5p	CLIP-seq
MIRT774710	hsa-miR-4712-3p	CLIP-seq
MIRT774711	hsa-miR-4713-5p	CLIP-seq
MIRT774712	hsa-miR-4715-3p	CLIP-seq
MIRT774713	hsa-miR-4719	CLIP-seq
MIRT774714	hsa-miR-4723-3p	CLIP-seq
MIRT774715	hsa-miR-4742-5p	CLIP-seq
MIRT774716	hsa-miR-4745-5p	CLIP-seq
MIRT774717	hsa-miR-4753-3p	CLIP-seq
MIRT774718	hsa-miR-4761-5p	CLIP-seq
MIRT774719	hsa-miR-4768-3p	CLIP-seq
MIRT774720	hsa-miR-4774-3p	CLIP-seq
MIRT774721	hsa-miR-4776-3p	CLIP-seq
MIRT774634	hsa-miR-4776-5p	CLIP-seq
MIRT774722	hsa-miR-490-3p	CLIP-seq
MIRT774723	hsa-miR-499-3p	CLIP-seq
MIRT774724	hsa-miR-499a-3p	CLIP-seq
MIRT774725	hsa-miR-508-5p	CLIP-seq
MIRT774726	hsa-miR-515-3p	CLIP-seq
MIRT774727	hsa-miR-518a-5p	CLIP-seq
MIRT774728	hsa-miR-519a	CLIP-seq
MIRT774729	hsa-miR-519b-3p	CLIP-seq
MIRT774730	hsa-miR-519c-3p	CLIP-seq
MIRT774731	hsa-miR-519e	CLIP-seq
MIRT774732	hsa-miR-520a-3p	CLIP-seq
MIRT774733	hsa-miR-520b	CLIP-seq
MIRT774734	hsa-miR-520c-3p	CLIP-seq
MIRT774735	hsa-miR-520d-3p	CLIP-seq
MIRT774736	hsa-miR-520e	CLIP-seq
MIRT774737	hsa-miR-527	CLIP-seq
MIRT774738	hsa-miR-532-3p	CLIP-seq
MIRT774739	hsa-miR-544b	CLIP-seq
MIRT774740	hsa-miR-548a-5p	CLIP-seq
MIRT774741	hsa-miR-548ab	CLIP-seq
MIRT774742	hsa-miR-548ak	CLIP-seq
MIRT774743	hsa-miR-548b-5p	CLIP-seq
MIRT774744	hsa-miR-548c-5p	CLIP-seq
MIRT774745	hsa-miR-548d-5p	CLIP-seq
MIRT774746	hsa-miR-548h	CLIP-seq
MIRT774747	hsa-miR-548i	CLIP-seq
MIRT774748	hsa-miR-548j	CLIP-seq
MIRT774749	hsa-miR-548w	CLIP-seq
MIRT774750	hsa-miR-548y	CLIP-seq
MIRT774751	hsa-miR-559	CLIP-seq
MIRT774752	hsa-miR-570	CLIP-seq
MIRT774753	hsa-miR-571	CLIP-seq
MIRT774754	hsa-miR-583	CLIP-seq
MIRT774755	hsa-miR-649	CLIP-seq
MIRT774756	hsa-miR-650	CLIP-seq
MIRT774757	hsa-miR-660	CLIP-seq
MIRT774758	hsa-miR-665	CLIP-seq
MIRT774759	hsa-miR-676	CLIP-seq
MIRT774760	hsa-miR-766	CLIP-seq
MIRT774761	hsa-miR-767-3p	CLIP-seq
MIRT774762	hsa-miR-885-5p	CLIP-seq
MIRT774643	hsa-miR-890	CLIP-seq
MIRT774763	hsa-miR-922	CLIP-seq
MIRT774764	hsa-miR-940	CLIP-seq
MIRT774765	hsa-miR-942	CLIP-seq
MIRT774766	hsa-miR-130a	CLIP-seq
MIRT774767	hsa-miR-130b	CLIP-seq
MIRT774768	hsa-miR-148a	CLIP-seq
MIRT774769	hsa-miR-148b	CLIP-seq
MIRT774770	hsa-miR-152	CLIP-seq
MIRT774771	hsa-miR-19a	CLIP-seq
MIRT774772	hsa-miR-19b	CLIP-seq
MIRT774773	hsa-miR-301a	CLIP-seq
MIRT774774	hsa-miR-301b	CLIP-seq
MIRT774662	hsa-miR-3064-3p	CLIP-seq
MIRT774775	hsa-miR-338-5p	CLIP-seq
MIRT774776	hsa-miR-3666	CLIP-seq
MIRT774777	hsa-miR-4295	CLIP-seq
MIRT774778	hsa-miR-454	CLIP-seq
MIRT774779	hsa-miR-4738-3p	CLIP-seq
MIRT774780	hsa-miR-495	CLIP-seq
MIRT1928644	hsa-miR-3065-3p	CLIP-seq
MIRT1928645	hsa-miR-582-5p	CLIP-seq
MIRT1928646	hsa-miR-600	CLIP-seq
MIRT2169445	hsa-miR-2278	CLIP-seq
MIRT2169446	hsa-miR-4729	CLIP-seq
MIRT2169447	hsa-miR-548an	CLIP-seq
MIRT2169448	hsa-miR-302f	CLIP-seq
MIRT2384026	hsa-miR-1262	CLIP-seq
MIRT2384027	hsa-miR-323-5p	CLIP-seq
MIRT2384028	hsa-miR-4314	CLIP-seq
MIRT2384029	hsa-miR-4701-3p	CLIP-seq
MIRT2384030	hsa-miR-552	CLIP-seq
MIRT774618	hsa-miR-1225-3p	CLIP-seq
MIRT774619	hsa-miR-1226	CLIP-seq
MIRT774620	hsa-miR-1233	CLIP-seq
MIRT2471991	hsa-miR-141	CLIP-seq
MIRT2471992	hsa-miR-1913	CLIP-seq
MIRT2471993	hsa-miR-200a	CLIP-seq
MIRT2169445	hsa-miR-2278	CLIP-seq
MIRT774662	hsa-miR-3064-3p	CLIP-seq
MIRT1928644	hsa-miR-3065-3p	CLIP-seq
MIRT2471994	hsa-miR-3130-5p	CLIP-seq
MIRT2471995	hsa-miR-324-3p	CLIP-seq
MIRT774775	hsa-miR-338-5p	CLIP-seq
MIRT2471996	hsa-miR-3620	CLIP-seq
MIRT774626	hsa-miR-3691-3p	CLIP-seq
MIRT774627	hsa-miR-3921	CLIP-seq
MIRT2471997	hsa-miR-4290	CLIP-seq
MIRT774628	hsa-miR-4303	CLIP-seq
MIRT2471998	hsa-miR-4469	CLIP-seq
MIRT2471999	hsa-miR-4482	CLIP-seq
MIRT774631	hsa-miR-4653-5p	CLIP-seq
MIRT2472000	hsa-miR-4687-5p	CLIP-seq
MIRT2472001	hsa-miR-4732-3p	CLIP-seq
MIRT774632	hsa-miR-4733-3p	CLIP-seq
MIRT774633	hsa-miR-4749-3p	CLIP-seq
MIRT774765	hsa-miR-942	CLIP-seq
MIRT774618	hsa-miR-1225-3p	CLIP-seq
MIRT774619	hsa-miR-1226	CLIP-seq
MIRT774620	hsa-miR-1233	CLIP-seq
MIRT2471991	hsa-miR-141	CLIP-seq
MIRT2471993	hsa-miR-200a	CLIP-seq
MIRT774662	hsa-miR-3064-3p	CLIP-seq
MIRT774775	hsa-miR-338-5p	CLIP-seq
MIRT2471996	hsa-miR-3620	CLIP-seq
MIRT774626	hsa-miR-3691-3p	CLIP-seq
MIRT774627	hsa-miR-3921	CLIP-seq
MIRT2471997	hsa-miR-4290	CLIP-seq
MIRT774628	hsa-miR-4303	CLIP-seq
MIRT2471998	hsa-miR-4469	CLIP-seq
MIRT774631	hsa-miR-4653-5p	CLIP-seq
MIRT2472000	hsa-miR-4687-5p	CLIP-seq
MIRT2472001	hsa-miR-4732-3p	CLIP-seq
MIRT774632	hsa-miR-4733-3p	CLIP-seq
MIRT774633	hsa-miR-4749-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004017	Function	AMP kinase activity	EXP	6182143
GO:0004017	Function	AMP kinase activity	IBA
GO:0004017	Function	AMP kinase activity	IEA
GO:0004017	Function	AMP kinase activity	TAS	9504408
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006172	Process	ADP biosynthetic process	IBA
GO:0006172	Process	ADP biosynthetic process	IEA
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009123	Process	Nucleoside monophosphate metabolic process	IEA
GO:0015949	Process	Nucleobase-containing small molecule interconversion	TAS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016776	Function	Phosphotransferase activity, phosphate group as acceptor	IEA
GO:0019205	Function	Nucleobase-containing compound kinase activity	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0046033	Process	AMP metabolic process	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0046940	Process	Nucleoside monophosphate phosphorylation	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0097226	Component	Sperm mitochondrial sheath	IEA

Other IDs

• MIM: 103020
• HGNC: 362
• e!Ensembl: ENSG00000004455

Protein

• UniProt ID: P54819
• Protein name: Adenylate kinase 2, mitochondrial (AK 2) (EC 2.7.4.3) (ATP-AMP transphosphorylase 2) (ATP:AMP phosphotransferase) (Adenylate monophosphate kinase) [Cleaved into: Adenylate kinase 2, mitochondrial, N-terminally processed]
• Protein function: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosp
• PDB: 2C9Y
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00406	ADK	20 → 206		Domain
  PF05191	ADK_lid	142 → 177	Adenylate kinase, active site lid	Domain

• Tissue specificity: TISSUE SPECIFICITY: Present in most tissues. Present at high level in heart, liver and kidney, and at low level in brain, skeletal muscle and skin. Present in thrombocytes but not in erythrocytes, which lack mitochondria. Present in all nucleated cell pop
• Sequence:

  MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSEL
  GKKLKATMDAGKLVSDEMVVELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKE
  KLDSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPKEPMKDDITGEPLIRRSDDNE
  KALKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILAAFSKATCKDLVMFI

• Sequence length: 239

Pathways

KEGG:

Purine metabolism
Thiamine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors

Reactome:

Interconversion of nucleotide di- and triphosphates

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Reticular dysgenesis	Likely pathogenic; Pathogenic	rs746465070, rs1640610158, rs2124279569, rs1476680673, rs559947967, rs2522072280, rs387906581, rs137853206, rs1192619329, rs1553151177, rs777503956, rs267606643, rs267606645, rs267606648, rs267606646, rs267606647, rs1553150995, rs1569646997, rs1243124080	RCV001379163 RCV002002459 RCV001883769 RCV001974730 RCV001283780 RCV003039593 RCV000019913 RCV000019914 RCV000019915 RCV000019916 RCV000019917 RCV000019918 RCV000019920 RCV000019922 RCV000019923 RCV000019924 RCV000019919 RCV000819483 RCV001037044	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs1375379850, rs1639559794, rs1638959411, rs1638975235, rs1398317449, rs137853206, rs777503956, rs267606645, rs267606648	RCV004699311 RCV001732127 RCV001733379 RCV001825068 RCV001825069 RCV005406755 RCV001778659 RCV002281711 RCV005055518	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AK2-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	29526028		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31780678		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31780678		★☆☆☆☆ Found in Text Mining only
Adenylate Kinase Deficiency Hemolytic Anemia Due To	Hemolytic anemia	Pubtator	26270350	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29939407		★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome	Bare Lymphocyte Syndrome	CTD_human_DG	19043416, 19043417		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38025761	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31780678		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36401332	Associate	★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
De Vaal`s syndrome	De Vaal`s Syndrome	ORPHANET_DG	19043416		★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	19043416		★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	19043416		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	29713328	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37161605	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36401332	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	21556322	Inhibit	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31673062		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31780678		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33560378	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	24666435	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	38598835	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31780678		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	26270350	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37800791	Associate	★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	CTD_human_DG	19043416, 19043417		★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	19043416		★☆☆☆☆ Found in Text Mining only
Reticular dysgenesis	Reticular dysgenesis	BEFREE	19043416, 19043417, 19896777, 20876536, 31673062		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reticular dysgenesis	Reticular dysgenesis	CLINVAR_DG	19043416, 28331055		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reticular dysgenesis	Reticular dysgenesis	UNIPROT_DG	19043416, 19043417		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reticular dysgenesis	Reticular dysgenesis	ORPHANET_DG	19043416		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reticular dysgenesis	Reticular dysgenesis	GENOMICS_ENGLAND_DG	19043416, 19043417		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reticular dysgenesis	Reticular dysgenesis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reticular dysgenesis	Reticular dysgenesis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	19043416		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CTD_human_DG	19043416, 19043417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	19895994, 28331055, 32532877, 33560378, 35303369	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37800791	Associate	★☆☆☆☆ Found in Text Mining only