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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	444
Gene name	Aspartate beta-hydroxylase
Gene symbol	ASPH
Synonyms (NCBI Gene)	AAHBAHCASQ2BP1FDLABHAAHJCTNjunctin
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

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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

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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

Show/Hide all (3)

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

Show/Hide all (57)

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

MIM	HGNC	e!Ensembl
600582	757	ENSG00000198363

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

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Cardiac muscle contraction		Stimuli-sensing channels Ion homeostasis

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Exercise-induced malignant hyperthermia	Pathogenic	rs2151398072	RCV002238742
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
Malignant hyperthermia of anesthesia	Pathogenic	rs1236122813	RCV002240149
Thoracic aortic aneurysm or dissection	Likely pathogenic	rs374385878	RCV005252763

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs6471962	RCV005911393
ASPH-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs527506012, rs535549266, rs781622171, rs117730298, rs6995412, rs34108497, rs138163443, rs573164897, rs147373850, rs144325115, rs759403041, rs149828220, rs141197241, rs148064193	RCV003941086 RCV003941088 RCV003931300 RCV003916378 RCV003961165 RCV003981600 RCV003913994 RCV003924561 RCV003922209 RCV003944621 RCV003976845 RCV003960817 RCV003910591 RCV003902945
Cholangiocarcinoma	Benign	rs998427	RCV005916982
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs1056174161	RCV004557848
Familial cancer of breast	Benign	rs998427	RCV005916975
Familial pancreatic carcinoma	Benign	rs998427	RCV005916979
Gastric cancer	Benign; Likely benign	rs753416869, rs114964365	RCV005867190 RCV005928767
Hepatocellular carcinoma	Benign	rs4738904, rs998427	RCV005916235 RCV005916976
Malignant tumor of esophagus	Benign; Likely benign	rs753416869	RCV005867189
Ovarian cancer	Benign	rs998427	RCV005916977
Ovarian serous cystadenocarcinoma	Benign	rs114964365	RCV005928768
Sarcoma	Benign	rs6471962	RCV005911394
Thymoma	Benign	rs998427	RCV005916981
Uterine carcinosarcoma	Benign	rs998427	RCV005916980
Uterine corpus endometrial carcinoma	Benign	rs114964365	RCV005928769
Uveal melanoma	Benign	rs998427	RCV005916978

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32719345
Atherosclerosis	Associate	33526034
Axial osteomalacia	Associate	40025527
Breast Neoplasms	Associate	19706770, 28985022, 35726161
Breast Neoplasms	Stimulate	33380715
CADASIL	Associate	21504125
Cakut	Associate	27151922
Carcinoma Hepatocellular	Associate	23651211, 28985022, 29764768, 8823296
Carcinoma Non Small Cell Lung	Associate	19200576
Cholangiocarcinoma	Associate	8823296
Ectopia Lentis Spontaneous Filtering Blebs and Craniofacial Dysmorphism	Associate	33217155
Endocrine System Diseases	Associate	28985022
Hepatoblastoma	Associate	17681019
Hypoxia	Associate	21150341
Kidney Diseases	Associate	27151922
Medulloblastoma	Stimulate	12118090
Meningeal Carcinomatosis	Stimulate	34263942
Microspherophakia	Associate	40025527
Neoplasm Metastasis	Stimulate	12118090
Neoplasm Metastasis	Associate	29764768
Neoplasms	Stimulate	12118090, 33380715, 36982561
Neoplasms	Associate	17681019, 19087304, 23651211, 32719345, 35726161, 38001067
Nerve Degeneration	Associate	18478238
Neuroblastoma	Stimulate	12118090
Neuroectodermal Tumors	Stimulate	12118090
Pancreatic Neoplasms	Stimulate	19200576
Polycystic Ovary Syndrome	Associate	33372369
Rhabdomyosarcoma	Associate	17681019
Rhabdomyosarcoma Embryonal	Associate	17681019
Stomach Neoplasms	Associate	36982561
Tertiary Lymphoid Structures	Stimulate	33380715
Vascular Diseases	Inhibit	21504125

ASPH (aspartate beta-hydroxylase)