ASPH (aspartate beta-hydroxylase)

Gene

• Entrez ID: 444
• Gene name: Aspartate beta-hydroxylase
• Gene symbol: ASPH
• Synonyms (NCBI Gene): AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin
• Chromosome: 8
• Chromosome location: 8q12.3
• Summary: This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80163539	T>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, genic downstream transcript variant, frameshift variant
rs374385878	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs879255574	AGGTT>CCC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1563580963	C>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020908	hsa-miR-155-5p	Proteomics	18668040
MIRT024363	hsa-miR-215-5p	Microarray	19074876
MIRT026731	hsa-miR-192-5p	Microarray	19074876
MIRT031802	hsa-miR-16-5p	Microarray	21199864
MIRT437918	hsa-miR-1-3p	Luciferase reporter assay	23723006
MIRT437919	mmu-miR-1a-3p	Luciferase reporter assay	23723006
MIRT437920	rno-miR-1-3p	Luciferase reporter assay	23723006
MIRT457138	hsa-miR-6165	PAR-CLIP	23592263
MIRT483712	hsa-miR-3174	PAR-CLIP	23592263
MIRT457137	hsa-miR-4459	PAR-CLIP	23592263
MIRT483711	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT483709	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT483710	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT483708	hsa-miR-5194	PAR-CLIP	23592263
MIRT483707	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT457134	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT457132	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT457133	hsa-miR-6081	PAR-CLIP	23592263
MIRT457131	hsa-miR-3689d	PAR-CLIP	23592263
MIRT457130	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT483706	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT483705	hsa-miR-8085	PAR-CLIP	23592263
MIRT483704	hsa-miR-3175	PAR-CLIP	23592263
MIRT457129	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT457128	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT483703	hsa-miR-6073	PAR-CLIP	23592263
MIRT403517	hsa-miR-921	PAR-CLIP	23592263
MIRT483701	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT483702	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT457138	hsa-miR-6165	PAR-CLIP	23592263
MIRT483713	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT483712	hsa-miR-3174	PAR-CLIP	23592263
MIRT457137	hsa-miR-4459	PAR-CLIP	23592263
MIRT483711	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT483709	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT483710	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT483708	hsa-miR-5194	PAR-CLIP	23592263
MIRT483707	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT457134	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT457132	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT457133	hsa-miR-6081	PAR-CLIP	23592263
MIRT457131	hsa-miR-3689d	PAR-CLIP	23592263
MIRT457130	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT483706	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT483705	hsa-miR-8085	PAR-CLIP	23592263
MIRT483704	hsa-miR-3175	PAR-CLIP	23592263
MIRT457129	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT457128	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT483703	hsa-miR-6073	PAR-CLIP	23592263
MIRT403517	hsa-miR-921	PAR-CLIP	23592263
MIRT483701	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT483702	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT457142	hsa-miR-4426	PAR-CLIP	23592263
MIRT457141	hsa-miR-4647	PAR-CLIP	23592263
MIRT457140	hsa-miR-4662b	PAR-CLIP	23592263
MIRT457139	hsa-miR-4506	PAR-CLIP	23592263
MIRT457138	hsa-miR-6165	PAR-CLIP	23592263
MIRT457137	hsa-miR-4459	PAR-CLIP	23592263
MIRT457136	hsa-miR-4699-5p	PAR-CLIP	23592263
MIRT457134	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT457135	hsa-miR-8069	PAR-CLIP	23592263
MIRT457132	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT457133	hsa-miR-6081	PAR-CLIP	23592263
MIRT457131	hsa-miR-3689d	PAR-CLIP	23592263
MIRT457130	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT457129	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT457128	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT457127	hsa-miR-1225-5p	PAR-CLIP	23592263
MIRT457138	hsa-miR-6165	PAR-CLIP	23592263
MIRT483712	hsa-miR-3174	PAR-CLIP	23592263
MIRT457137	hsa-miR-4459	PAR-CLIP	23592263
MIRT483711	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT483709	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT483710	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT483708	hsa-miR-5194	PAR-CLIP	23592263
MIRT483707	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT457134	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT457132	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT457133	hsa-miR-6081	PAR-CLIP	23592263
MIRT457131	hsa-miR-3689d	PAR-CLIP	23592263
MIRT457130	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT483706	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT483705	hsa-miR-8085	PAR-CLIP	23592263
MIRT483704	hsa-miR-3175	PAR-CLIP	23592263
MIRT457129	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT457128	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT483703	hsa-miR-6073	PAR-CLIP	23592263
MIRT403517	hsa-miR-921	PAR-CLIP	23592263
MIRT483701	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT483702	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT457138	hsa-miR-6165	PAR-CLIP	23592263
MIRT483713	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT483712	hsa-miR-3174	PAR-CLIP	23592263
MIRT457137	hsa-miR-4459	PAR-CLIP	23592263
MIRT483711	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT483709	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT483710	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT483708	hsa-miR-5194	PAR-CLIP	23592263
MIRT483707	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT457134	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT457132	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT457133	hsa-miR-6081	PAR-CLIP	23592263
MIRT457131	hsa-miR-3689d	PAR-CLIP	23592263
MIRT457130	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT483706	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT483705	hsa-miR-8085	PAR-CLIP	23592263
MIRT483704	hsa-miR-3175	PAR-CLIP	23592263
MIRT457129	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT457128	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT483703	hsa-miR-6073	PAR-CLIP	23592263
MIRT403517	hsa-miR-921	PAR-CLIP	23592263
MIRT483701	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT483702	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT457142	hsa-miR-4426	PAR-CLIP	23592263
MIRT457141	hsa-miR-4647	PAR-CLIP	23592263
MIRT457140	hsa-miR-4662b	PAR-CLIP	23592263
MIRT457139	hsa-miR-4506	PAR-CLIP	23592263
MIRT457138	hsa-miR-6165	PAR-CLIP	23592263
MIRT457137	hsa-miR-4459	PAR-CLIP	23592263
MIRT457136	hsa-miR-4699-5p	PAR-CLIP	23592263
MIRT457134	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT457135	hsa-miR-8069	PAR-CLIP	23592263
MIRT457132	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT457133	hsa-miR-6081	PAR-CLIP	23592263
MIRT457131	hsa-miR-3689d	PAR-CLIP	23592263
MIRT457130	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT457129	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT457128	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT457127	hsa-miR-1225-5p	PAR-CLIP	23592263
MIRT803117	hsa-miR-103a	CLIP-seq
MIRT803118	hsa-miR-107	CLIP-seq
MIRT803119	hsa-miR-1227	CLIP-seq
MIRT803120	hsa-miR-1238	CLIP-seq
MIRT803121	hsa-miR-1261	CLIP-seq
MIRT803122	hsa-miR-1273f	CLIP-seq
MIRT803123	hsa-miR-1324	CLIP-seq
MIRT803124	hsa-miR-300	CLIP-seq
MIRT803125	hsa-miR-3145-3p	CLIP-seq
MIRT803126	hsa-miR-3163	CLIP-seq
MIRT803127	hsa-miR-3201	CLIP-seq
MIRT803128	hsa-miR-375	CLIP-seq
MIRT803129	hsa-miR-381	CLIP-seq
MIRT803130	hsa-miR-4310	CLIP-seq
MIRT803131	hsa-miR-4428	CLIP-seq
MIRT803132	hsa-miR-4666-3p	CLIP-seq
MIRT803133	hsa-miR-4691-5p	CLIP-seq
MIRT803134	hsa-miR-4698	CLIP-seq
MIRT803135	hsa-miR-4775	CLIP-seq
MIRT803136	hsa-miR-4791	CLIP-seq
MIRT803137	hsa-miR-1193	CLIP-seq
MIRT803138	hsa-miR-1258	CLIP-seq
MIRT803139	hsa-miR-137	CLIP-seq
MIRT803140	hsa-miR-25	CLIP-seq
MIRT803141	hsa-miR-32	CLIP-seq
MIRT803142	hsa-miR-363	CLIP-seq
MIRT803143	hsa-miR-367	CLIP-seq
MIRT803144	hsa-miR-4325	CLIP-seq
MIRT803145	hsa-miR-4528	CLIP-seq
MIRT803146	hsa-miR-4742-3p	CLIP-seq
MIRT803147	hsa-miR-92a	CLIP-seq
MIRT803148	hsa-miR-92b	CLIP-seq
MIRT803149	hsa-miR-29a	CLIP-seq
MIRT803150	hsa-miR-29b	CLIP-seq
MIRT803151	hsa-miR-29c	CLIP-seq
MIRT803152	hsa-miR-4517	CLIP-seq
MIRT803135	hsa-miR-4775	CLIP-seq
MIRT803153	hsa-miR-590-3p	CLIP-seq
MIRT803154	hsa-miR-767-5p	CLIP-seq
MIRT803155	hsa-miR-889	CLIP-seq
MIRT1937194	hsa-miR-4686	CLIP-seq
MIRT1937195	hsa-miR-4797-3p	CLIP-seq
MIRT1937196	hsa-miR-767-3p	CLIP-seq
MIRT2176853	hsa-miR-4789-3p	CLIP-seq
MIRT2176854	hsa-miR-3156-5p	CLIP-seq
MIRT2176855	hsa-miR-3591-5p	CLIP-seq
MIRT2176856	hsa-miR-4255	CLIP-seq
MIRT2176853	hsa-miR-4789-3p	CLIP-seq
MIRT2176857	hsa-miR-499-3p	CLIP-seq
MIRT2176858	hsa-miR-499a-3p	CLIP-seq
MIRT2176855	hsa-miR-3591-5p	CLIP-seq
MIRT2176856	hsa-miR-4255	CLIP-seq
MIRT2176853	hsa-miR-4789-3p	CLIP-seq
MIRT2426533	hsa-miR-570	CLIP-seq
MIRT2435511	hsa-miR-1251	CLIP-seq
MIRT2435512	hsa-miR-15a	CLIP-seq
MIRT2435513	hsa-miR-15b	CLIP-seq
MIRT2435514	hsa-miR-16	CLIP-seq
MIRT2435515	hsa-miR-195	CLIP-seq
MIRT2435516	hsa-miR-214	CLIP-seq
MIRT2435517	hsa-miR-325	CLIP-seq
MIRT2435518	hsa-miR-3619-5p	CLIP-seq
MIRT2435519	hsa-miR-377	CLIP-seq
MIRT2435520	hsa-miR-3922-5p	CLIP-seq
MIRT2435521	hsa-miR-3944-3p	CLIP-seq
MIRT2435522	hsa-miR-3973	CLIP-seq
MIRT2435523	hsa-miR-424	CLIP-seq
MIRT2435524	hsa-miR-4267	CLIP-seq
MIRT2435525	hsa-miR-4473	CLIP-seq
MIRT2435526	hsa-miR-4524	CLIP-seq
MIRT2435527	hsa-miR-4677-3p	CLIP-seq
MIRT2435528	hsa-miR-4679	CLIP-seq
MIRT2435529	hsa-miR-4682	CLIP-seq
MIRT2435530	hsa-miR-4690-5p	CLIP-seq
MIRT2435531	hsa-miR-4705	CLIP-seq
MIRT2435532	hsa-miR-497	CLIP-seq
MIRT2435533	hsa-miR-503	CLIP-seq
MIRT2435534	hsa-miR-5096	CLIP-seq
MIRT2435535	hsa-miR-512-3p	CLIP-seq
MIRT2435536	hsa-miR-520f	CLIP-seq
MIRT2435537	hsa-miR-548k	CLIP-seq
MIRT2435538	hsa-miR-628-3p	CLIP-seq
MIRT2435539	hsa-miR-633	CLIP-seq
MIRT2435540	hsa-miR-646	CLIP-seq
MIRT2435541	hsa-miR-760	CLIP-seq
MIRT2435542	hsa-miR-761	CLIP-seq
MIRT803119	hsa-miR-1227	CLIP-seq
MIRT2444109	hsa-miR-148a	CLIP-seq
MIRT2444110	hsa-miR-148b	CLIP-seq
MIRT2444111	hsa-miR-152	CLIP-seq
MIRT2435512	hsa-miR-15a	CLIP-seq
MIRT2435513	hsa-miR-15b	CLIP-seq
MIRT2435514	hsa-miR-16	CLIP-seq
MIRT2444112	hsa-miR-1825	CLIP-seq
MIRT2435515	hsa-miR-195	CLIP-seq
MIRT2444113	hsa-miR-362-5p	CLIP-seq
MIRT2444114	hsa-miR-3653	CLIP-seq
MIRT2444115	hsa-miR-3913-3p	CLIP-seq
MIRT2435523	hsa-miR-424	CLIP-seq
MIRT2444116	hsa-miR-4307	CLIP-seq
MIRT2444117	hsa-miR-448	CLIP-seq
MIRT2444118	hsa-miR-4487	CLIP-seq
MIRT2444119	hsa-miR-4499	CLIP-seq
MIRT2435526	hsa-miR-4524	CLIP-seq
MIRT2444120	hsa-miR-4659a-5p	CLIP-seq
MIRT2444121	hsa-miR-4659b-5p	CLIP-seq
MIRT2444122	hsa-miR-4691-3p	CLIP-seq
MIRT2444123	hsa-miR-4709-3p	CLIP-seq
MIRT2444124	hsa-miR-4716-5p	CLIP-seq
MIRT2435532	hsa-miR-497	CLIP-seq
MIRT2444125	hsa-miR-500b	CLIP-seq
MIRT2444126	hsa-miR-501-5p	CLIP-seq
MIRT2435533	hsa-miR-503	CLIP-seq
MIRT2444127	hsa-miR-515-5p	CLIP-seq
MIRT2444128	hsa-miR-556-3p	CLIP-seq
MIRT2444129	hsa-miR-583	CLIP-seq
MIRT2435540	hsa-miR-646	CLIP-seq
MIRT2444114	hsa-miR-3653	CLIP-seq
MIRT2444129	hsa-miR-583	CLIP-seq
MIRT2480199	hsa-miR-1	CLIP-seq
MIRT2480200	hsa-miR-1301	CLIP-seq
MIRT2480201	hsa-miR-204	CLIP-seq
MIRT2480202	hsa-miR-206	CLIP-seq
MIRT2480203	hsa-miR-211	CLIP-seq
MIRT2435516	hsa-miR-214	CLIP-seq
MIRT2480204	hsa-miR-219-2-3p	CLIP-seq
MIRT2480205	hsa-miR-2964a-3p	CLIP-seq
MIRT2480206	hsa-miR-31	CLIP-seq
MIRT2480207	hsa-miR-3182	CLIP-seq
MIRT2176855	hsa-miR-3591-5p	CLIP-seq
MIRT2435518	hsa-miR-3619-5p	CLIP-seq
MIRT2480208	hsa-miR-3646	CLIP-seq
MIRT2480209	hsa-miR-3673	CLIP-seq
MIRT2480210	hsa-miR-3685	CLIP-seq
MIRT2480211	hsa-miR-384	CLIP-seq
MIRT2480212	hsa-miR-3938	CLIP-seq
MIRT2480213	hsa-miR-409-3p	CLIP-seq
MIRT2480214	hsa-miR-4256	CLIP-seq
MIRT2480215	hsa-miR-4265	CLIP-seq
MIRT2480216	hsa-miR-4266	CLIP-seq
MIRT2480217	hsa-miR-4296	CLIP-seq
MIRT2480218	hsa-miR-4322	CLIP-seq
MIRT2480219	hsa-miR-4695-5p	CLIP-seq
MIRT2480220	hsa-miR-4696	CLIP-seq
MIRT2480221	hsa-miR-4711-3p	CLIP-seq
MIRT2480222	hsa-miR-4725-5p	CLIP-seq
MIRT2480223	hsa-miR-4755-5p	CLIP-seq
MIRT2480224	hsa-miR-4779	CLIP-seq
MIRT2480225	hsa-miR-4781-3p	CLIP-seq
MIRT2480226	hsa-miR-4795-3p	CLIP-seq
MIRT2480227	hsa-miR-504	CLIP-seq
MIRT2480228	hsa-miR-5047	CLIP-seq
MIRT2480229	hsa-miR-548a-3p	CLIP-seq
MIRT2480230	hsa-miR-548e	CLIP-seq
MIRT2480231	hsa-miR-548f	CLIP-seq
MIRT2480232	hsa-miR-555	CLIP-seq
MIRT2480233	hsa-miR-609	CLIP-seq
MIRT2480234	hsa-miR-613	CLIP-seq
MIRT2480235	hsa-miR-623	CLIP-seq
MIRT2480236	hsa-miR-642b	CLIP-seq
MIRT2435542	hsa-miR-761	CLIP-seq
MIRT2480237	hsa-miR-9	CLIP-seq
MIRT2176855	hsa-miR-3591-5p	CLIP-seq
MIRT2176856	hsa-miR-4255	CLIP-seq
MIRT2675497	hsa-miR-1225-3p	CLIP-seq
MIRT2675498	hsa-miR-1233	CLIP-seq
MIRT2675499	hsa-miR-128	CLIP-seq
MIRT2675500	hsa-miR-1283	CLIP-seq
MIRT2675501	hsa-miR-1305	CLIP-seq
MIRT2675502	hsa-miR-140-3p	CLIP-seq
MIRT2675503	hsa-miR-1910	CLIP-seq
MIRT2675504	hsa-miR-198	CLIP-seq
MIRT2675505	hsa-miR-2053	CLIP-seq
MIRT803125	hsa-miR-3145-3p	CLIP-seq
MIRT2675506	hsa-miR-3159	CLIP-seq
MIRT2675507	hsa-miR-3168	CLIP-seq
MIRT2675508	hsa-miR-3177-5p	CLIP-seq
MIRT2675509	hsa-miR-320a	CLIP-seq
MIRT2675510	hsa-miR-320b	CLIP-seq
MIRT2675511	hsa-miR-320c	CLIP-seq
MIRT2675512	hsa-miR-320d	CLIP-seq
MIRT2176855	hsa-miR-3591-5p	CLIP-seq
MIRT2675513	hsa-miR-3613-3p	CLIP-seq
MIRT2444114	hsa-miR-3653	CLIP-seq
MIRT2675514	hsa-miR-3668	CLIP-seq
MIRT2480209	hsa-miR-3673	CLIP-seq
MIRT2675515	hsa-miR-3942-3p	CLIP-seq
MIRT2435522	hsa-miR-3973	CLIP-seq
MIRT2675516	hsa-miR-421	CLIP-seq
MIRT2176856	hsa-miR-4255	CLIP-seq
MIRT2675517	hsa-miR-4276	CLIP-seq
MIRT2675518	hsa-miR-4280	CLIP-seq
MIRT2675519	hsa-miR-4302	CLIP-seq
MIRT2675520	hsa-miR-4303	CLIP-seq
MIRT2675521	hsa-miR-4429	CLIP-seq
MIRT2675522	hsa-miR-4446-5p	CLIP-seq
MIRT2675523	hsa-miR-455-3p	CLIP-seq
MIRT2675524	hsa-miR-4709-5p	CLIP-seq
MIRT2675525	hsa-miR-4731-3p	CLIP-seq
MIRT2480223	hsa-miR-4755-5p	CLIP-seq
MIRT2675526	hsa-miR-4760-3p	CLIP-seq
MIRT2675527	hsa-miR-4762-3p	CLIP-seq
MIRT2675528	hsa-miR-4801	CLIP-seq
MIRT2675529	hsa-miR-483-3p	CLIP-seq
MIRT2675530	hsa-miR-520a-5p	CLIP-seq
MIRT2675531	hsa-miR-525-5p	CLIP-seq
MIRT2435537	hsa-miR-548k	CLIP-seq
MIRT2675532	hsa-miR-548u	CLIP-seq
MIRT2675533	hsa-miR-561	CLIP-seq
MIRT2675534	hsa-miR-569	CLIP-seq
MIRT2435539	hsa-miR-633	CLIP-seq
MIRT2675535	hsa-miR-668	CLIP-seq
MIRT2675536	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NOTCH3	Unknown	21504125
USF1	Unknown	19087304
USF2	Unknown	19087304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	TAS	11007777
GO:0005509	Function	Calcium ion binding	IDA	22586105
GO:0005509	Function	Calcium ion binding	NAS	11007777
GO:0005509	Function	Calcium ion binding	TAS	11007777
GO:0005513	Process	Detection of calcium ion	TAS	22123818
GO:0005515	Function	Protein binding	IPI	21062895, 22586105, 25416956, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	10974562, 11007777
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	22586105
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	11007777
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	11007777
GO:0005886	Component	Plasma membrane	IDA	21062895
GO:0006936	Process	Muscle contraction	TAS	10974562
GO:0007389	Process	Pattern specification process	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008307	Function	Structural constituent of muscle	TAS	11007777
GO:0009055	Function	Electron transfer activity	TAS	7821814
GO:0010524	Process	Positive regulation of calcium ion transport into cytosol	IDA	21062895
GO:0010649	Process	Regulation of cell communication by electrical coupling	TAS	22123818
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	TAS	15041652, 19567751
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS	17400717
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	15041652, 22123818
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	17569730
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0031585	Process	Regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IDA	21062895
GO:0031647	Process	Regulation of protein stability	IEA
GO:0032237	Process	Activation of store-operated calcium channel activity	IDA	22586105
GO:0032541	Component	Cortical endoplasmic reticulum	IDA	21062895, 22586105
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS	19403607
GO:0033018	Component	Sarcoplasmic reticulum lumen	TAS	22123818
GO:0033198	Process	Response to ATP	IDA	21062895
GO:0034704	Component	Calcium channel complex	TAS	19403607
GO:0035108	Process	Limb morphogenesis	IEA
GO:0044325	Function	Transmembrane transporter binding	TAS	19567751
GO:0045862	Process	Positive regulation of proteolysis	IDA	18387192
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	22586105
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IBA
GO:0055074	Process	Calcium ion homeostasis	IDA	15302852
GO:0060021	Process	Roof of mouth development	IEA
GO:0060325	Process	Face morphogenesis	IEA
GO:0062101	Function	Peptidyl-aspartic acid 3-dioxygenase activity	IBA
GO:0062101	Function	Peptidyl-aspartic acid 3-dioxygenase activity	IEA
GO:0062101	Function	Peptidyl-aspartic acid 3-dioxygenase activity	TAS	11007777
GO:0070588	Process	Calcium ion transmembrane transport	IDA	21062895
GO:0071277	Process	Cellular response to calcium ion	IDA	21062895
GO:0090316	Process	Positive regulation of intracellular protein transport	IDA	22586105
GO:1901879	Process	Regulation of protein depolymerization	IEA

Other IDs

• MIM: 600582
• HGNC: 757
• e!Ensembl: ENSG00000198363

Protein

• UniProt ID: Q12797
• Protein name: Aspartyl/asparaginyl beta-hydroxylase (EC 1.14.11.16) (Aspartate beta-hydroxylase) (ASP beta-hydroxylase) (Peptide-aspartate beta-dioxygenase)
• Protein function: [Isoform 1]: Specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins. ; [Isoform 8]: Membrane-bound Ca(2+)-sensing protein, which is a
• PDB: 5APA, 5JQY, 5JTC, 5JZ6, 5JZ8, 5JZA, 5JZU, 6Q9F, 6Q9I, 6QA5, 6RK9, 6YYU, 6YYV, 6YYW, 6YYX, 6YYY, 6Z6Q, 6Z6R, 7BMI, 7BMJ, 7E6J, 7YB8, 7YB9, 7YBA, 7YBB, 7YBC, 8RE5, 8RE6, 8RE7, 8RE8, 8RE9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05279	Asp-B-Hydro_N	43 → 310	Aspartyl beta-hydroxylase N-terminal region	Family
  PF13432	TPR_16	345 → 415		Family
  PF05118	Asp_Arg_Hydrox	591 → 745	Aspartyl/Asparaginyl beta-hydroxylase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is detected in all tissues tested. Isoform 8 is mainly expressed in pancreas, heart, brain, kidney and liver. Isoform 8 is expressed in kidney (at protein level). {ECO:0000269|PubMed:11007777}.
• Sequence:

  MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMV
  IALLGVWTSVAVVWFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVP
  PEEAEPHTEPEEQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDGPTGEPQ
  QEDDEFLMATDVDDRFETLEPEVSHEETEHSYHVEETVSQDCNQDMEEMMSEQENPDSSE
  PVVEDERLHHDTDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSI
  FPVEEQQEVPPETNRKTDDPEQKAKVKKKKPKLLNKFDKTIKAELDAAEKLRKRGKIEEA
  VNAFKELVRKYPQSPRARYGKAQCEDDLAEKRRSNEVLRGAIETYQEVASLPDVPADLLK
  LSLKRRSDRQQFLGHMRGSLLTLQRLVQLFPNDTSLKNDLGVGYLLIGDNDNAKKVYEEV
  LSVTPNDGFAKVHYGFILKAQNKIAESIPYLKEGIESGDPGTDDGRFYFHLGDAMQRVGN
  KEAYKWYELGHKRGHFASVWQRSLYNVNGLKAQPWWTPKETGYTELVKSLERNWKLIRDE
  GLAVMDKAKGLFLPEDENLREKGDWSQFTLWQQGRRNENACKGAPKTCTLLEKFPETTGC
  RRGQIKYSIMHPGTHVWPHTGPTNCRLRMHLGLVIPKEGCKIRCANETKTWEEGKVLIFD
  DSFEHEVWQDASSFRLIFIVDVWHPELTPQQRRSLPAI

• Sequence length: 758

Pathways

KEGG:

Calcium signaling pathway
Cardiac muscle contraction

Reactome:

Stimuli-sensing channels
Ion homeostasis

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
Exercise-induced malignant hyperthermia	Pathogenic	rs2151398072	RCV002238742	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	Likely pathogenic; Pathogenic	rs1200332180, rs781508063, rs765610535, rs749202132, rs879255574, rs374385878, rs2131116547, rs2547031624, rs2546832937, rs1563580963	RCV001542581 RCV001542582 RCV004546665 RCV001580280 RCV000125463 RCV000125464 RCV002254245 RCV003126308 RCV003990172 RCV000761586	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant hyperthermia of anesthesia	Pathogenic	rs1236122813	RCV002240149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thoracic aortic aneurysm or dissection	Likely pathogenic	rs374385878	RCV005252763	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPH-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRCAX BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	18604784		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30768955		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33526034	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	10573514		★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	16673309		★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile Duct Neoplasms	LHGDN	16673309		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28301261, 31694640		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19706770, 28985022, 35726161	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33380715	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	17534846		★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	21504125	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	27151922	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17020779, 17534846		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23651211, 28985022, 29764768, 8823296	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	29594489		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	10728685, 12713872, 16673309, 21898484, 29733964, 8823296		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	12713872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	8823296	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	17020779		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	29733964		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	31694640		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	31694640		★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	25689043		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	BEFREE	24768550		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopia Lentis Spontaneous Filtering Blebs and Craniofacial Dysmorphism	Ectopia lentis	Pubtator	33217155	Associate	★☆☆☆☆ Found in Text Mining only
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism	Ectopia Lentis	BEFREE	24768550, 30194805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism	Ectopia Lentis	UNIPROT_DG	24768550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism	Ectopia Lentis	ORPHANET_DG	24768550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism	Ectopia Lentis	GENOMICS_ENGLAND_DG	24768550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism	Ectopia Lentis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism	Ectopia Lentis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocrine System Diseases	Endocrine system disease	Pubtator	28985022	Associate	★☆☆☆☆ Found in Text Mining only
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatoblastoma	Hepatoblastoma	Pubtator	17681019	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21150341	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	21898484		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27151922	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10728685, 16564107, 17020779, 20578260, 25394783, 28714949, 28985022, 31219565, 31608722, 8823296		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16341145, 16564107		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28301261, 31694640		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	20578260, 29736205		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25483102, 30179586		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12118090, 17534846, 20878118, 30179586, 31694640		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17020779		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	12118090		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	12118090	Stimulate	★☆☆☆☆ Found in Text Mining only
Microspherophakia	Microspherophakia	Pubtator	40025527	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12118090, 12130746, 12713872, 16564107, 17020779, 20878118, 21898484, 25483102, 28714949, 29733964		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12118090, 17156427		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	12118090		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12118090	Stimulate	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	12118090		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	12118090		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28985022		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17020779, 25483102, 30179586		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30768955		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19200576	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33372369	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	17681019	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	17681019	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30254470		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18288418		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36982561	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	21504125	Inhibit	★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	22422768		★☆☆☆☆ Found in Text Mining only