SLC25A12 (solute carrier family 25 member 12)

Gene

• Entrez ID: 8604
• Gene name: Solute carrier family 25 member 12
• Gene symbol: SLC25A12
• Synonyms (NCBI Gene): AGC1, ARALAR, DEE39, EIEE39
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be asso

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434396	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs142912356	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs886037851	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1553469156	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1573977142	T>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032465	hsa-let-7b-5p	Proteomics	18668040
MIRT051393	hsa-let-7f-5p	CLASH	23622248
MIRT047856	hsa-miR-30c-5p	CLASH	23622248
MIRT039054	hsa-miR-766-3p	CLASH	23622248
MIRT707901	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT156259	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT707900	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT156224	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT707899	hsa-miR-1267	HITS-CLIP	21572407
MIRT707898	hsa-miR-367-5p	HITS-CLIP	21572407
MIRT707897	hsa-miR-567	HITS-CLIP	21572407
MIRT707896	hsa-miR-3177-5p	HITS-CLIP	21572407
MIRT707895	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT707894	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707893	hsa-miR-3924	HITS-CLIP	21572407
MIRT156225	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT707892	hsa-miR-297	HITS-CLIP	21572407
MIRT563091	hsa-miR-548p	PAR-CLIP	20371350
MIRT563090	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT563089	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT563088	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT563087	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT563086	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT563085	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT563084	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT563083	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT563082	hsa-miR-646	PAR-CLIP	20371350
MIRT563081	hsa-miR-4687-5p	PAR-CLIP	20371350
MIRT563080	hsa-miR-6779-3p	PAR-CLIP	20371350
MIRT563079	hsa-miR-129-1-3p	PAR-CLIP	20371350
MIRT563078	hsa-miR-129-2-3p	PAR-CLIP	20371350
MIRT563077	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT563076	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT563075	hsa-miR-4777-3p	PAR-CLIP	20371350
MIRT563074	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT563073	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT563091	hsa-miR-548p	PAR-CLIP	20371350
MIRT563090	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT563089	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT563088	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT563087	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT563086	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT563085	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT563084	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT563083	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT563082	hsa-miR-646	PAR-CLIP	20371350
MIRT563081	hsa-miR-4687-5p	PAR-CLIP	20371350
MIRT563080	hsa-miR-6779-3p	PAR-CLIP	20371350
MIRT563079	hsa-miR-129-1-3p	PAR-CLIP	20371350
MIRT563078	hsa-miR-129-2-3p	PAR-CLIP	20371350
MIRT563077	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT563076	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT563075	hsa-miR-4777-3p	PAR-CLIP	20371350
MIRT563074	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT563073	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT498081	hsa-miR-320c	PAR-CLIP	22291592
MIRT498080	hsa-miR-4429	PAR-CLIP	22291592
MIRT498079	hsa-miR-320d	PAR-CLIP	22291592
MIRT498078	hsa-miR-320a	PAR-CLIP	22291592
MIRT498077	hsa-miR-320b	PAR-CLIP	22291592
MIRT498076	hsa-miR-499a-5p	PAR-CLIP	22291592
MIRT498075	hsa-miR-505-3p	PAR-CLIP	22291592
MIRT498074	hsa-miR-4432	PAR-CLIP	22291592
MIRT498073	hsa-miR-8087	PAR-CLIP	22291592
MIRT498072	hsa-miR-100-3p	PAR-CLIP	22291592
MIRT498071	hsa-miR-4789-3p	PAR-CLIP	22291592
MIRT498070	hsa-miR-494-3p	PAR-CLIP	22291592
MIRT498069	hsa-miR-9-3p	PAR-CLIP	22291592
MIRT156229	hsa-miR-510-3p	PAR-CLIP	22291592
MIRT563090	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT563089	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT563088	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT563087	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT726553	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT726552	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT735907	hsa-miR-302b-3p	Luciferase reporter assay, Microarray, Immunoprecipitaion (IP), qRT-PCR, ELISA	31767682
MIRT707901	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT156259	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT707900	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT156224	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT707899	hsa-miR-1267	HITS-CLIP	21572407
MIRT707898	hsa-miR-367-5p	HITS-CLIP	21572407
MIRT707897	hsa-miR-567	HITS-CLIP	21572407
MIRT707896	hsa-miR-3177-5p	HITS-CLIP	21572407
MIRT707895	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT707894	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707893	hsa-miR-3924	HITS-CLIP	21572407
MIRT156225	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT707892	hsa-miR-297	HITS-CLIP	21572407
MIRT563091	hsa-miR-548p	PAR-CLIP	20371350
MIRT563090	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT563089	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT563088	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT563087	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT563086	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT563085	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT563084	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT563083	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT563082	hsa-miR-646	PAR-CLIP	20371350
MIRT563081	hsa-miR-4687-5p	PAR-CLIP	20371350
MIRT563080	hsa-miR-6779-3p	PAR-CLIP	20371350
MIRT563079	hsa-miR-129-1-3p	PAR-CLIP	20371350
MIRT563078	hsa-miR-129-2-3p	PAR-CLIP	20371350
MIRT563077	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT563076	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT563075	hsa-miR-4777-3p	PAR-CLIP	20371350
MIRT563074	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT563073	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT563091	hsa-miR-548p	PAR-CLIP	20371350
MIRT563090	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT563089	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT563088	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT563087	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT563086	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT563085	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT563084	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT563083	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT563082	hsa-miR-646	PAR-CLIP	20371350
MIRT563081	hsa-miR-4687-5p	PAR-CLIP	20371350
MIRT563080	hsa-miR-6779-3p	PAR-CLIP	20371350
MIRT563079	hsa-miR-129-1-3p	PAR-CLIP	20371350
MIRT563078	hsa-miR-129-2-3p	PAR-CLIP	20371350
MIRT563077	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT563076	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT563075	hsa-miR-4777-3p	PAR-CLIP	20371350
MIRT563074	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT563073	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT498081	hsa-miR-320c	PAR-CLIP	22291592
MIRT498080	hsa-miR-4429	PAR-CLIP	22291592
MIRT498079	hsa-miR-320d	PAR-CLIP	22291592
MIRT498078	hsa-miR-320a	PAR-CLIP	22291592
MIRT498077	hsa-miR-320b	PAR-CLIP	22291592
MIRT498076	hsa-miR-499a-5p	PAR-CLIP	22291592
MIRT498075	hsa-miR-505-3p	PAR-CLIP	22291592
MIRT498074	hsa-miR-4432	PAR-CLIP	22291592
MIRT498073	hsa-miR-8087	PAR-CLIP	22291592
MIRT498072	hsa-miR-100-3p	PAR-CLIP	22291592
MIRT498071	hsa-miR-4789-3p	PAR-CLIP	22291592
MIRT498070	hsa-miR-494-3p	PAR-CLIP	22291592
MIRT498069	hsa-miR-9-3p	PAR-CLIP	22291592
MIRT156229	hsa-miR-510-3p	PAR-CLIP	22291592
MIRT1355131	hsa-miR-1208	CLIP-seq
MIRT1355132	hsa-miR-1255a	CLIP-seq
MIRT1355133	hsa-miR-1255b	CLIP-seq
MIRT1355134	hsa-miR-130a	CLIP-seq
MIRT1355135	hsa-miR-130b	CLIP-seq
MIRT1355136	hsa-miR-15a	CLIP-seq
MIRT1355137	hsa-miR-15b	CLIP-seq
MIRT1355138	hsa-miR-16	CLIP-seq
MIRT1355139	hsa-miR-193a-3p	CLIP-seq
MIRT1355140	hsa-miR-193b	CLIP-seq
MIRT1355141	hsa-miR-195	CLIP-seq
MIRT1355142	hsa-miR-19a	CLIP-seq
MIRT1355143	hsa-miR-19b	CLIP-seq
MIRT1355144	hsa-miR-301a	CLIP-seq
MIRT1355145	hsa-miR-301b	CLIP-seq
MIRT1355146	hsa-miR-302a	CLIP-seq
MIRT1355147	hsa-miR-302b	CLIP-seq
MIRT1355148	hsa-miR-302c	CLIP-seq
MIRT1355149	hsa-miR-302d	CLIP-seq
MIRT1355150	hsa-miR-302e	CLIP-seq
MIRT1355151	hsa-miR-330-3p	CLIP-seq
MIRT1355152	hsa-miR-338-5p	CLIP-seq
MIRT1355153	hsa-miR-34a	CLIP-seq
MIRT1355154	hsa-miR-34b	CLIP-seq
MIRT1355155	hsa-miR-34c-3p	CLIP-seq
MIRT1355156	hsa-miR-34c-5p	CLIP-seq
MIRT1355157	hsa-miR-3666	CLIP-seq
MIRT1355158	hsa-miR-372	CLIP-seq
MIRT1355159	hsa-miR-373	CLIP-seq
MIRT1355160	hsa-miR-3908	CLIP-seq
MIRT1355161	hsa-miR-3942-5p	CLIP-seq
MIRT1355162	hsa-miR-424	CLIP-seq
MIRT1355163	hsa-miR-4276	CLIP-seq
MIRT1355164	hsa-miR-4295	CLIP-seq
MIRT1355165	hsa-miR-4480	CLIP-seq
MIRT1355166	hsa-miR-449a	CLIP-seq
MIRT1355167	hsa-miR-449b	CLIP-seq
MIRT1355168	hsa-miR-450b-3p	CLIP-seq
MIRT1355169	hsa-miR-4524	CLIP-seq
MIRT1355170	hsa-miR-4536	CLIP-seq
MIRT1355171	hsa-miR-454	CLIP-seq
MIRT1355172	hsa-miR-4703-5p	CLIP-seq
MIRT1355173	hsa-miR-4705	CLIP-seq
MIRT1355174	hsa-miR-4733-5p	CLIP-seq
MIRT1355175	hsa-miR-4766-3p	CLIP-seq
MIRT1355176	hsa-miR-497	CLIP-seq
MIRT1355177	hsa-miR-503	CLIP-seq
MIRT1355178	hsa-miR-518a-5p	CLIP-seq
MIRT1355179	hsa-miR-519a	CLIP-seq
MIRT1355180	hsa-miR-519b-3p	CLIP-seq
MIRT1355181	hsa-miR-519c-3p	CLIP-seq
MIRT1355182	hsa-miR-520a-3p	CLIP-seq
MIRT1355183	hsa-miR-520b	CLIP-seq
MIRT1355184	hsa-miR-520c-3p	CLIP-seq
MIRT1355185	hsa-miR-520d-3p	CLIP-seq
MIRT1355186	hsa-miR-520d-5p	CLIP-seq
MIRT1355187	hsa-miR-520e	CLIP-seq
MIRT1355188	hsa-miR-524-5p	CLIP-seq
MIRT1355189	hsa-miR-527	CLIP-seq
MIRT1355190	hsa-miR-593	CLIP-seq
MIRT1355191	hsa-miR-654-3p	CLIP-seq
MIRT1355192	hsa-miR-769-3p	CLIP-seq
MIRT1355193	hsa-miR-892b	CLIP-seq
MIRT1355131	hsa-miR-1208	CLIP-seq
MIRT1355134	hsa-miR-130a	CLIP-seq
MIRT1355135	hsa-miR-130b	CLIP-seq
MIRT2105197	hsa-miR-139-5p	CLIP-seq
MIRT1355136	hsa-miR-15a	CLIP-seq
MIRT1355137	hsa-miR-15b	CLIP-seq
MIRT1355138	hsa-miR-16	CLIP-seq
MIRT1355141	hsa-miR-195	CLIP-seq
MIRT1355142	hsa-miR-19a	CLIP-seq
MIRT1355143	hsa-miR-19b	CLIP-seq
MIRT1355144	hsa-miR-301a	CLIP-seq
MIRT1355145	hsa-miR-301b	CLIP-seq
MIRT1355146	hsa-miR-302a	CLIP-seq
MIRT1355147	hsa-miR-302b	CLIP-seq
MIRT1355148	hsa-miR-302c	CLIP-seq
MIRT1355149	hsa-miR-302d	CLIP-seq
MIRT1355150	hsa-miR-302e	CLIP-seq
MIRT2105198	hsa-miR-3065-3p	CLIP-seq
MIRT1355151	hsa-miR-330-3p	CLIP-seq
MIRT1355154	hsa-miR-34b	CLIP-seq
MIRT2105199	hsa-miR-361-5p	CLIP-seq
MIRT1355157	hsa-miR-3666	CLIP-seq
MIRT2105200	hsa-miR-3688-3p	CLIP-seq
MIRT1355158	hsa-miR-372	CLIP-seq
MIRT1355159	hsa-miR-373	CLIP-seq
MIRT1355162	hsa-miR-424	CLIP-seq
MIRT2105201	hsa-miR-4261	CLIP-seq
MIRT1355163	hsa-miR-4276	CLIP-seq
MIRT1355164	hsa-miR-4295	CLIP-seq
MIRT1355169	hsa-miR-4524	CLIP-seq
MIRT1355170	hsa-miR-4536	CLIP-seq
MIRT1355171	hsa-miR-454	CLIP-seq
MIRT2105202	hsa-miR-4633-5p	CLIP-seq
MIRT2105203	hsa-miR-4659a-3p	CLIP-seq
MIRT2105204	hsa-miR-4659b-3p	CLIP-seq
MIRT2105205	hsa-miR-4694-3p	CLIP-seq
MIRT2105206	hsa-miR-4704-3p	CLIP-seq
MIRT1355173	hsa-miR-4705	CLIP-seq
MIRT2105207	hsa-miR-4753-3p	CLIP-seq
MIRT2105208	hsa-miR-4773	CLIP-seq
MIRT1355176	hsa-miR-497	CLIP-seq
MIRT1355177	hsa-miR-503	CLIP-seq
MIRT2105209	hsa-miR-513a-5p	CLIP-seq
MIRT1355178	hsa-miR-518a-5p	CLIP-seq
MIRT1355179	hsa-miR-519a	CLIP-seq
MIRT1355180	hsa-miR-519b-3p	CLIP-seq
MIRT1355181	hsa-miR-519c-3p	CLIP-seq
MIRT1355182	hsa-miR-520a-3p	CLIP-seq
MIRT1355183	hsa-miR-520b	CLIP-seq
MIRT1355184	hsa-miR-520c-3p	CLIP-seq
MIRT1355185	hsa-miR-520d-3p	CLIP-seq
MIRT1355187	hsa-miR-520e	CLIP-seq
MIRT1355189	hsa-miR-527	CLIP-seq
MIRT2105210	hsa-miR-532-5p	CLIP-seq
MIRT2105211	hsa-miR-582-5p	CLIP-seq
MIRT1355191	hsa-miR-654-3p	CLIP-seq
MIRT2105212	hsa-miR-942	CLIP-seq
MIRT1355131	hsa-miR-1208	CLIP-seq
MIRT1355134	hsa-miR-130a	CLIP-seq
MIRT1355135	hsa-miR-130b	CLIP-seq
MIRT2105197	hsa-miR-139-5p	CLIP-seq
MIRT1355136	hsa-miR-15a	CLIP-seq
MIRT1355137	hsa-miR-15b	CLIP-seq
MIRT1355138	hsa-miR-16	CLIP-seq
MIRT1355141	hsa-miR-195	CLIP-seq
MIRT1355142	hsa-miR-19a	CLIP-seq
MIRT1355143	hsa-miR-19b	CLIP-seq
MIRT1355144	hsa-miR-301a	CLIP-seq
MIRT1355145	hsa-miR-301b	CLIP-seq
MIRT1355146	hsa-miR-302a	CLIP-seq
MIRT1355147	hsa-miR-302b	CLIP-seq
MIRT1355148	hsa-miR-302c	CLIP-seq
MIRT1355149	hsa-miR-302d	CLIP-seq
MIRT1355150	hsa-miR-302e	CLIP-seq
MIRT2105198	hsa-miR-3065-3p	CLIP-seq
MIRT1355151	hsa-miR-330-3p	CLIP-seq
MIRT1355154	hsa-miR-34b	CLIP-seq
MIRT1355155	hsa-miR-34c-3p	CLIP-seq
MIRT2105199	hsa-miR-361-5p	CLIP-seq
MIRT1355157	hsa-miR-3666	CLIP-seq
MIRT2329788	hsa-miR-3686	CLIP-seq
MIRT2105200	hsa-miR-3688-3p	CLIP-seq
MIRT1355158	hsa-miR-372	CLIP-seq
MIRT1355159	hsa-miR-373	CLIP-seq
MIRT2329789	hsa-miR-3973	CLIP-seq
MIRT1355162	hsa-miR-424	CLIP-seq
MIRT2105201	hsa-miR-4261	CLIP-seq
MIRT1355163	hsa-miR-4276	CLIP-seq
MIRT2329790	hsa-miR-4293	CLIP-seq
MIRT1355164	hsa-miR-4295	CLIP-seq
MIRT1355165	hsa-miR-4480	CLIP-seq
MIRT1355169	hsa-miR-4524	CLIP-seq
MIRT1355170	hsa-miR-4536	CLIP-seq
MIRT1355171	hsa-miR-454	CLIP-seq
MIRT2105202	hsa-miR-4633-5p	CLIP-seq
MIRT2105205	hsa-miR-4694-3p	CLIP-seq
MIRT2105206	hsa-miR-4704-3p	CLIP-seq
MIRT1355173	hsa-miR-4705	CLIP-seq
MIRT2329791	hsa-miR-4731-3p	CLIP-seq
MIRT2329792	hsa-miR-4778-5p	CLIP-seq
MIRT2329793	hsa-miR-4779	CLIP-seq
MIRT2329794	hsa-miR-4801	CLIP-seq
MIRT1355176	hsa-miR-497	CLIP-seq
MIRT2329795	hsa-miR-498	CLIP-seq
MIRT1355177	hsa-miR-503	CLIP-seq
MIRT2105209	hsa-miR-513a-5p	CLIP-seq
MIRT1355178	hsa-miR-518a-5p	CLIP-seq
MIRT1355179	hsa-miR-519a	CLIP-seq
MIRT1355180	hsa-miR-519b-3p	CLIP-seq
MIRT1355181	hsa-miR-519c-3p	CLIP-seq
MIRT1355182	hsa-miR-520a-3p	CLIP-seq
MIRT1355183	hsa-miR-520b	CLIP-seq
MIRT1355184	hsa-miR-520c-3p	CLIP-seq
MIRT1355185	hsa-miR-520d-3p	CLIP-seq
MIRT1355186	hsa-miR-520d-5p	CLIP-seq
MIRT1355187	hsa-miR-520e	CLIP-seq
MIRT1355188	hsa-miR-524-5p	CLIP-seq
MIRT1355189	hsa-miR-527	CLIP-seq
MIRT2105210	hsa-miR-532-5p	CLIP-seq
MIRT2329796	hsa-miR-543	CLIP-seq
MIRT2329797	hsa-miR-548l	CLIP-seq
MIRT2105211	hsa-miR-582-5p	CLIP-seq
MIRT1355190	hsa-miR-593	CLIP-seq
MIRT2329798	hsa-miR-596	CLIP-seq
MIRT1355191	hsa-miR-654-3p	CLIP-seq
MIRT2105197	hsa-miR-139-5p	CLIP-seq
MIRT2394658	hsa-miR-3064-3p	CLIP-seq
MIRT2394659	hsa-miR-421	CLIP-seq
MIRT2105206	hsa-miR-4704-3p	CLIP-seq
MIRT2394660	hsa-miR-4709-5p	CLIP-seq
MIRT2394661	hsa-miR-4715-3p	CLIP-seq
MIRT2394662	hsa-miR-4776-3p	CLIP-seq
MIRT2105209	hsa-miR-513a-5p	CLIP-seq
MIRT2105211	hsa-miR-582-5p	CLIP-seq
MIRT2623969	hsa-miR-1182	CLIP-seq
MIRT2623970	hsa-miR-1273g	CLIP-seq
MIRT2623971	hsa-miR-1285	CLIP-seq
MIRT2623972	hsa-miR-151-5p	CLIP-seq
MIRT2623973	hsa-miR-151b	CLIP-seq
MIRT2623974	hsa-miR-22	CLIP-seq
MIRT2623975	hsa-miR-28-5p	CLIP-seq
MIRT2105198	hsa-miR-3065-3p	CLIP-seq
MIRT2623976	hsa-miR-3128	CLIP-seq
MIRT2623977	hsa-miR-3135	CLIP-seq
MIRT2623978	hsa-miR-3139	CLIP-seq
MIRT2623979	hsa-miR-3140-3p	CLIP-seq
MIRT2623980	hsa-miR-3187-5p	CLIP-seq
MIRT2623981	hsa-miR-329	CLIP-seq
MIRT2623982	hsa-miR-340	CLIP-seq
MIRT2623983	hsa-miR-3618	CLIP-seq
MIRT2623984	hsa-miR-362-3p	CLIP-seq
MIRT2105200	hsa-miR-3688-3p	CLIP-seq
MIRT2623985	hsa-miR-3909	CLIP-seq
MIRT2623986	hsa-miR-3941	CLIP-seq
MIRT2105201	hsa-miR-4261	CLIP-seq
MIRT2623987	hsa-miR-4292	CLIP-seq
MIRT2329790	hsa-miR-4293	CLIP-seq
MIRT2623988	hsa-miR-4308	CLIP-seq
MIRT2623989	hsa-miR-4446-5p	CLIP-seq
MIRT2623990	hsa-miR-4496	CLIP-seq
MIRT2623991	hsa-miR-4642	CLIP-seq
MIRT2105205	hsa-miR-4694-3p	CLIP-seq
MIRT2623992	hsa-miR-4720-5p	CLIP-seq
MIRT2329791	hsa-miR-4731-3p	CLIP-seq
MIRT2623993	hsa-miR-4755-5p	CLIP-seq
MIRT2329793	hsa-miR-4779	CLIP-seq
MIRT2623994	hsa-miR-4799-3p	CLIP-seq
MIRT2329794	hsa-miR-4801	CLIP-seq
MIRT2623995	hsa-miR-485-3p	CLIP-seq
MIRT2623996	hsa-miR-494	CLIP-seq
MIRT2623997	hsa-miR-558	CLIP-seq
MIRT2329798	hsa-miR-596	CLIP-seq
MIRT2623998	hsa-miR-603	CLIP-seq
MIRT2623999	hsa-miR-612	CLIP-seq
MIRT2624000	hsa-miR-670	CLIP-seq
MIRT2624001	hsa-miR-708	CLIP-seq
MIRT2623969	hsa-miR-1182	CLIP-seq
MIRT2623970	hsa-miR-1273g	CLIP-seq
MIRT2623971	hsa-miR-1285	CLIP-seq
MIRT2623972	hsa-miR-151-5p	CLIP-seq
MIRT2623973	hsa-miR-151b	CLIP-seq
MIRT2623974	hsa-miR-22	CLIP-seq
MIRT2623975	hsa-miR-28-5p	CLIP-seq
MIRT2105198	hsa-miR-3065-3p	CLIP-seq
MIRT2623977	hsa-miR-3135	CLIP-seq
MIRT2623978	hsa-miR-3139	CLIP-seq
MIRT2623979	hsa-miR-3140-3p	CLIP-seq
MIRT2623980	hsa-miR-3187-5p	CLIP-seq
MIRT2623981	hsa-miR-329	CLIP-seq
MIRT2623982	hsa-miR-340	CLIP-seq
MIRT2623983	hsa-miR-3618	CLIP-seq
MIRT2623984	hsa-miR-362-3p	CLIP-seq
MIRT2105200	hsa-miR-3688-3p	CLIP-seq
MIRT2623986	hsa-miR-3941	CLIP-seq
MIRT2105201	hsa-miR-4261	CLIP-seq
MIRT2623987	hsa-miR-4292	CLIP-seq
MIRT2329790	hsa-miR-4293	CLIP-seq
MIRT2623988	hsa-miR-4308	CLIP-seq
MIRT2623989	hsa-miR-4446-5p	CLIP-seq
MIRT2623990	hsa-miR-4496	CLIP-seq
MIRT2105205	hsa-miR-4694-3p	CLIP-seq
MIRT2329791	hsa-miR-4731-3p	CLIP-seq
MIRT2623993	hsa-miR-4755-5p	CLIP-seq
MIRT2329793	hsa-miR-4779	CLIP-seq
MIRT2329794	hsa-miR-4801	CLIP-seq
MIRT2623996	hsa-miR-494	CLIP-seq
MIRT2623997	hsa-miR-558	CLIP-seq
MIRT2329798	hsa-miR-596	CLIP-seq
MIRT2623998	hsa-miR-603	CLIP-seq
MIRT2623999	hsa-miR-612	CLIP-seq
MIRT2624000	hsa-miR-670	CLIP-seq
MIRT2624001	hsa-miR-708	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000514	Function	3-sulfino-L-alanine: proton, glutamate antiporter activity	IDA	11566871
GO:0000514	Function	3-sulfino-L-alanine: proton, glutamate antiporter activity	IEA
GO:0000515	Function	Aspartate:glutamate, proton antiporter activity	IDA	11566871, 24515575
GO:0000515	Function	Aspartate:glutamate, proton antiporter activity	IEA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IBA
GO:0005509	Function	Calcium ion binding	IDA	9722566, 25410934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 31767682, 33961781
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	9722566, 11566871, 19641205, 24515575
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	11566871
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0015172	Function	Acidic amino acid transmembrane transporter activity	IEA
GO:0015183	Function	L-aspartate transmembrane transporter activity	IBA
GO:0015804	Process	Neutral amino acid transport	IEA
GO:0015810	Process	Aspartate transmembrane transport	IBA
GO:0015810	Process	Aspartate transmembrane transport	IDA	11566871, 19641205, 24515575
GO:0015813	Process	L-glutamate transmembrane transport	IBA
GO:0015813	Process	L-glutamate transmembrane transport	IDA	11566871, 19641205, 24515575
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9722566
GO:0042802	Function	Identical protein binding	IDA	25410934
GO:0043490	Process	Malate-aspartate shuttle	IBA
GO:0043490	Process	Malate-aspartate shuttle	IDA	11566871
GO:0043490	Process	Malate-aspartate shuttle	IEA
GO:0043490	Process	Malate-aspartate shuttle	IGI	37647199
GO:0046872	Function	Metal ion binding	IEA
GO:0051592	Process	Response to calcium ion	IDA	11566871
GO:0051592	Process	Response to calcium ion	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070778	Process	L-aspartate transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 603667
• HGNC: 10982
• e!Ensembl: ENSG00000115840

Protein

• UniProt ID: O75746
• Protein name: Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial (Araceli hiperlarga) (Aralar) (Aralar1) (Mitochondrial aspartate glutamate carrier 1) (Solute carrier family 25 member 12)
• Protein function: Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:19641205, PubMed:24515575, PubMe
• PDB: 4P5X, 4P60
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	324 → 421	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	422 → 513	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	514 → 609	Mitochondrial carrier protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in the heart and skeletal muscle, weakly in brain and kidney. {ECO:0000269|PubMed:10369257, ECO:0000269|PubMed:9722566}.
• Sequence:

  MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLL
  AGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTII
  HHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGL
  DFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA
  GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGAL
  PYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGS
  GSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRR
  DGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL
  YKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPAD
  VIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYEL
  LQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKF
  KSPSVAVVQPKAAVAATQ

• Sequence length: 678

Pathways

Reactome:

Gluconeogenesis
Aspartate and asparagine metabolism

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
Developmental and epileptic encephalopathy, 39	Likely pathogenic; Pathogenic	rs2105895501, rs2545182699, rs1558906985, rs121434396, rs1553469156, rs1573977142, rs1685036155	RCV001837056 RCV002300681 RCV002300682 RCV000006523 RCV000578394 RCV000991369 RCV001262596	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPERGER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC25A12-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Atrophy	Associate	31403263	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	30321589	★☆☆☆☆ Found in Text Mining only
Demyelinating Autoimmune Diseases CNS	Associate	19641205	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Associate	28235644, 31403263	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	19641205, 37977948	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Associate	38287255	★☆☆☆☆ Found in Text Mining only
Epilepsy	Associate	31403263, 36079864, 37865723, 37977948	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Associate	31403263	★☆☆☆☆ Found in Text Mining only
Hypomyelination Global Cerebral	Inhibit	19641205, 28235644	★☆☆☆☆ Found in Text Mining only
Infantile Epileptic Dyskinetic Encephalopathy	Associate	28235644	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	31403263	★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Associate	31403263	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathies	Associate	31403263	★☆☆☆☆ Found in Text Mining only
Microcephaly	Associate	37977948	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	27290639	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Associate	31403263	★☆☆☆☆ Found in Text Mining only
Muscle Hypotonia	Associate	19641205, 31403263	★☆☆☆☆ Found in Text Mining only
Nerve Degeneration	Associate	31403263	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Associate	31403263	★☆☆☆☆ Found in Text Mining only
Neurologic Manifestations	Associate	37977948	★☆☆☆☆ Found in Text Mining only
Quadriplegia	Associate	31403263	★☆☆☆☆ Found in Text Mining only
Seizures	Associate	19641205	★☆☆☆☆ Found in Text Mining only