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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80303
Gene name Gene Name - the full gene name approved by the HGNC.	EF-hand domain family member D1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EFHD1
Synonyms (NCBI Gene) Gene synonyms aliases	MST133, MSTP133, PP3051, SWS2
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q37.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is compose

Show/Hide all(243)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016332	hsa-miR-193b-3p	Microarray	20304954
MIRT953849	hsa-miR-2110	CLIP-seq
MIRT953850	hsa-miR-3126-3p	CLIP-seq
MIRT953851	hsa-miR-3160-3p	CLIP-seq
MIRT953852	hsa-miR-3176	CLIP-seq
MIRT953853	hsa-miR-3617	CLIP-seq
MIRT953854	hsa-miR-3658	CLIP-seq
MIRT953855	hsa-miR-376c	CLIP-seq
MIRT953856	hsa-miR-3922-3p	CLIP-seq
MIRT953857	hsa-miR-3929	CLIP-seq
MIRT953858	hsa-miR-4257	CLIP-seq
MIRT953859	hsa-miR-4271	CLIP-seq
MIRT953860	hsa-miR-4419b	CLIP-seq
MIRT953861	hsa-miR-4478	CLIP-seq
MIRT953862	hsa-miR-4481	CLIP-seq
MIRT953863	hsa-miR-4487	CLIP-seq
MIRT953864	hsa-miR-4646-5p	CLIP-seq
MIRT953865	hsa-miR-4663	CLIP-seq
MIRT953866	hsa-miR-4668-5p	CLIP-seq
MIRT953867	hsa-miR-4709-3p	CLIP-seq
MIRT953868	hsa-miR-4725-3p	CLIP-seq
MIRT953869	hsa-miR-4745-5p	CLIP-seq
MIRT953870	hsa-miR-4747-5p	CLIP-seq
MIRT953871	hsa-miR-4761-5p	CLIP-seq
MIRT953872	hsa-miR-483-5p	CLIP-seq
MIRT953873	hsa-miR-491-5p	CLIP-seq
MIRT953874	hsa-miR-541	CLIP-seq
MIRT953875	hsa-miR-558	CLIP-seq
MIRT953876	hsa-miR-641	CLIP-seq
MIRT953877	hsa-miR-654-5p	CLIP-seq
MIRT953878	hsa-miR-7	CLIP-seq
MIRT1548209	hsa-miR-4519	CLIP-seq
MIRT1548210	hsa-miR-4699-5p	CLIP-seq
MIRT1982395	hsa-miR-3184	CLIP-seq
MIRT1982396	hsa-miR-3690	CLIP-seq
MIRT1982397	hsa-miR-423-5p	CLIP-seq
MIRT1982398	hsa-miR-4254	CLIP-seq
MIRT1982399	hsa-miR-4520a-3p	CLIP-seq
MIRT1982400	hsa-miR-4520b-3p	CLIP-seq
MIRT1982401	hsa-miR-4667-3p	CLIP-seq
MIRT2217193	hsa-miR-101	CLIP-seq
MIRT2217194	hsa-miR-10a	CLIP-seq
MIRT2217195	hsa-miR-10b	CLIP-seq
MIRT2217196	hsa-miR-1183	CLIP-seq
MIRT2217197	hsa-miR-1193	CLIP-seq
MIRT2217198	hsa-miR-1207-3p	CLIP-seq
MIRT2217199	hsa-miR-1207-5p	CLIP-seq
MIRT2217200	hsa-miR-1224-5p	CLIP-seq
MIRT2217201	hsa-miR-1236	CLIP-seq
MIRT2217202	hsa-miR-1253	CLIP-seq
MIRT2217203	hsa-miR-1266	CLIP-seq
MIRT2217204	hsa-miR-1270	CLIP-seq
MIRT2217205	hsa-miR-1275	CLIP-seq
MIRT2217206	hsa-miR-1287	CLIP-seq
MIRT2217207	hsa-miR-1292	CLIP-seq
MIRT2217208	hsa-miR-1293	CLIP-seq
MIRT2217209	hsa-miR-1294	CLIP-seq
MIRT2217210	hsa-miR-1321	CLIP-seq
MIRT2217211	hsa-miR-136	CLIP-seq
MIRT2217212	hsa-miR-139-5p	CLIP-seq
MIRT2217213	hsa-miR-144	CLIP-seq
MIRT2217214	hsa-miR-146a	CLIP-seq
MIRT2217215	hsa-miR-146b-5p	CLIP-seq
MIRT2217216	hsa-miR-149	CLIP-seq
MIRT2217217	hsa-miR-1827	CLIP-seq
MIRT2217218	hsa-miR-2054	CLIP-seq
MIRT2217219	hsa-miR-208a	CLIP-seq
MIRT2217220	hsa-miR-208b	CLIP-seq
MIRT953849	hsa-miR-2110	CLIP-seq
MIRT2217221	hsa-miR-2116	CLIP-seq
MIRT2217222	hsa-miR-24	CLIP-seq
MIRT2217223	hsa-miR-2467-3p	CLIP-seq
MIRT2217224	hsa-miR-300	CLIP-seq
MIRT2217225	hsa-miR-3064-5p	CLIP-seq
MIRT953850	hsa-miR-3126-3p	CLIP-seq
MIRT2217226	hsa-miR-3135	CLIP-seq
MIRT2217227	hsa-miR-3136-3p	CLIP-seq
MIRT2217228	hsa-miR-3144-5p	CLIP-seq
MIRT2217229	hsa-miR-3154	CLIP-seq
MIRT953851	hsa-miR-3160-3p	CLIP-seq
MIRT2217230	hsa-miR-3165	CLIP-seq
MIRT953852	hsa-miR-3176	CLIP-seq
MIRT1982395	hsa-miR-3184	CLIP-seq
MIRT2217231	hsa-miR-3192	CLIP-seq
MIRT2217232	hsa-miR-3609	CLIP-seq
MIRT2217233	hsa-miR-3614-5p	CLIP-seq
MIRT2217234	hsa-miR-3616-3p	CLIP-seq
MIRT953853	hsa-miR-3617	CLIP-seq
MIRT2217235	hsa-miR-3653	CLIP-seq
MIRT953854	hsa-miR-3658	CLIP-seq
MIRT2217236	hsa-miR-3667-5p	CLIP-seq
MIRT2217237	hsa-miR-3675-5p	CLIP-seq
MIRT2217238	hsa-miR-3689a-3p	CLIP-seq
MIRT2217239	hsa-miR-3689c	CLIP-seq
MIRT1982396	hsa-miR-3690	CLIP-seq
MIRT2217240	hsa-miR-3691-5p	CLIP-seq
MIRT2217241	hsa-miR-374c	CLIP-seq
MIRT953855	hsa-miR-376c	CLIP-seq
MIRT2217242	hsa-miR-381	CLIP-seq
MIRT2217243	hsa-miR-3914	CLIP-seq
MIRT2217244	hsa-miR-3921	CLIP-seq
MIRT953856	hsa-miR-3922-3p	CLIP-seq
MIRT953857	hsa-miR-3929	CLIP-seq
MIRT1982397	hsa-miR-423-5p	CLIP-seq
MIRT2217245	hsa-miR-4251	CLIP-seq
MIRT1982398	hsa-miR-4254	CLIP-seq
MIRT953858	hsa-miR-4257	CLIP-seq
MIRT2217246	hsa-miR-4265	CLIP-seq
MIRT2217247	hsa-miR-4270	CLIP-seq
MIRT953859	hsa-miR-4271	CLIP-seq
MIRT2217248	hsa-miR-4284	CLIP-seq
MIRT2217249	hsa-miR-4296	CLIP-seq
MIRT2217250	hsa-miR-4300	CLIP-seq
MIRT2217251	hsa-miR-4316	CLIP-seq
MIRT2217252	hsa-miR-4322	CLIP-seq
MIRT2217253	hsa-miR-4417	CLIP-seq
MIRT953860	hsa-miR-4419b	CLIP-seq
MIRT2217254	hsa-miR-4436b-3p	CLIP-seq
MIRT2217255	hsa-miR-4441	CLIP-seq
MIRT2217256	hsa-miR-4457	CLIP-seq
MIRT2217257	hsa-miR-4468	CLIP-seq
MIRT2217258	hsa-miR-4471	CLIP-seq
MIRT2217259	hsa-miR-4475	CLIP-seq
MIRT2217260	hsa-miR-4476	CLIP-seq
MIRT953861	hsa-miR-4478	CLIP-seq
MIRT953862	hsa-miR-4481	CLIP-seq
MIRT2217261	hsa-miR-4483	CLIP-seq
MIRT953863	hsa-miR-4487	CLIP-seq
MIRT2217262	hsa-miR-4493	CLIP-seq
MIRT2217263	hsa-miR-4508	CLIP-seq
MIRT2217264	hsa-miR-4511	CLIP-seq
MIRT2217265	hsa-miR-4518	CLIP-seq
MIRT1548209	hsa-miR-4519	CLIP-seq
MIRT1982399	hsa-miR-4520a-3p	CLIP-seq
MIRT1982400	hsa-miR-4520b-3p	CLIP-seq
MIRT2217266	hsa-miR-4525	CLIP-seq
MIRT2217267	hsa-miR-4533	CLIP-seq
MIRT2217268	hsa-miR-4534	CLIP-seq
MIRT953864	hsa-miR-4646-5p	CLIP-seq
MIRT2217269	hsa-miR-4649-3p	CLIP-seq
MIRT2217270	hsa-miR-4651	CLIP-seq
MIRT2217271	hsa-miR-4653-5p	CLIP-seq
MIRT953865	hsa-miR-4663	CLIP-seq
MIRT2217272	hsa-miR-4665-5p	CLIP-seq
MIRT2217273	hsa-miR-4666-3p	CLIP-seq
MIRT1982401	hsa-miR-4667-3p	CLIP-seq
MIRT953866	hsa-miR-4668-5p	CLIP-seq
MIRT2217274	hsa-miR-4677-3p	CLIP-seq
MIRT2217275	hsa-miR-4679	CLIP-seq
MIRT2217276	hsa-miR-4683	CLIP-seq
MIRT1548210	hsa-miR-4699-5p	CLIP-seq
MIRT2217277	hsa-miR-4708-5p	CLIP-seq
MIRT2217278	hsa-miR-4710	CLIP-seq
MIRT2217279	hsa-miR-4719	CLIP-seq
MIRT2217280	hsa-miR-4722-5p	CLIP-seq
MIRT2217281	hsa-miR-4723-5p	CLIP-seq
MIRT953868	hsa-miR-4725-3p	CLIP-seq
MIRT2217282	hsa-miR-4728-5p	CLIP-seq
MIRT2217283	hsa-miR-4736	CLIP-seq
MIRT2217284	hsa-miR-4738-3p	CLIP-seq
MIRT2217285	hsa-miR-4739	CLIP-seq
MIRT953869	hsa-miR-4745-5p	CLIP-seq
MIRT953870	hsa-miR-4747-5p	CLIP-seq
MIRT2217286	hsa-miR-4751	CLIP-seq
MIRT2217287	hsa-miR-4756-5p	CLIP-seq
MIRT953871	hsa-miR-4761-5p	CLIP-seq
MIRT2217288	hsa-miR-4763-3p	CLIP-seq
MIRT2217289	hsa-miR-4768-3p	CLIP-seq
MIRT2217290	hsa-miR-4768-5p	CLIP-seq
MIRT2217291	hsa-miR-4771	CLIP-seq
MIRT2217292	hsa-miR-4773	CLIP-seq
MIRT2217293	hsa-miR-4790-3p	CLIP-seq
MIRT2217294	hsa-miR-4792	CLIP-seq
MIRT2217295	hsa-miR-4794	CLIP-seq
MIRT2217296	hsa-miR-4797-5p	CLIP-seq
MIRT953872	hsa-miR-483-5p	CLIP-seq
MIRT953873	hsa-miR-491-5p	CLIP-seq
MIRT2217297	hsa-miR-493	CLIP-seq
MIRT2217298	hsa-miR-494	CLIP-seq
MIRT2217299	hsa-miR-496	CLIP-seq
MIRT2217300	hsa-miR-499-5p	CLIP-seq
MIRT2217301	hsa-miR-507	CLIP-seq
MIRT2217302	hsa-miR-513b	CLIP-seq
MIRT2217303	hsa-miR-520g	CLIP-seq
MIRT2217304	hsa-miR-520h	CLIP-seq
MIRT953874	hsa-miR-541	CLIP-seq
MIRT2217305	hsa-miR-548ah	CLIP-seq
MIRT2217306	hsa-miR-548b-3p	CLIP-seq
MIRT2217307	hsa-miR-557	CLIP-seq
MIRT953875	hsa-miR-558	CLIP-seq
MIRT2217308	hsa-miR-564	CLIP-seq
MIRT2217309	hsa-miR-582-5p	CLIP-seq
MIRT2217310	hsa-miR-589	CLIP-seq
MIRT2217311	hsa-miR-600	CLIP-seq
MIRT2217312	hsa-miR-608	CLIP-seq
MIRT2217313	hsa-miR-620	CLIP-seq
MIRT2217314	hsa-miR-625	CLIP-seq
MIRT2217315	hsa-miR-628-5p	CLIP-seq
MIRT953876	hsa-miR-641	CLIP-seq
MIRT953877	hsa-miR-654-5p	CLIP-seq
MIRT2217316	hsa-miR-655	CLIP-seq
MIRT2217317	hsa-miR-665	CLIP-seq
MIRT2217318	hsa-miR-668	CLIP-seq
MIRT953878	hsa-miR-7	CLIP-seq
MIRT2217319	hsa-miR-711	CLIP-seq
MIRT2217320	hsa-miR-758	CLIP-seq
MIRT2217321	hsa-miR-759	CLIP-seq
MIRT2217322	hsa-miR-873	CLIP-seq
MIRT2217323	hsa-miR-885-5p	CLIP-seq
MIRT2217324	hsa-miR-892b	CLIP-seq
MIRT2217325	hsa-miR-920	CLIP-seq
MIRT2217326	hsa-miR-934	CLIP-seq
MIRT2217327	hsa-miR-940	CLIP-seq
MIRT2217328	hsa-miR-942	CLIP-seq
MIRT2217197	hsa-miR-1193	CLIP-seq
MIRT2217203	hsa-miR-1266	CLIP-seq
MIRT2217204	hsa-miR-1270	CLIP-seq
MIRT2217208	hsa-miR-1293	CLIP-seq
MIRT2217210	hsa-miR-1321	CLIP-seq
MIRT2217216	hsa-miR-149	CLIP-seq
MIRT2217222	hsa-miR-24	CLIP-seq
MIRT2217230	hsa-miR-3165	CLIP-seq
MIRT2217231	hsa-miR-3192	CLIP-seq
MIRT2217238	hsa-miR-3689a-3p	CLIP-seq
MIRT2217239	hsa-miR-3689c	CLIP-seq
MIRT2217240	hsa-miR-3691-5p	CLIP-seq
MIRT2217247	hsa-miR-4270	CLIP-seq
MIRT2217248	hsa-miR-4284	CLIP-seq
MIRT2217255	hsa-miR-4441	CLIP-seq
MIRT2217261	hsa-miR-4483	CLIP-seq
MIRT2217265	hsa-miR-4518	CLIP-seq
MIRT1982399	hsa-miR-4520a-3p	CLIP-seq
MIRT1982400	hsa-miR-4520b-3p	CLIP-seq
MIRT2217268	hsa-miR-4534	CLIP-seq
MIRT2217270	hsa-miR-4651	CLIP-seq
MIRT2217276	hsa-miR-4683	CLIP-seq
MIRT2217277	hsa-miR-4708-5p	CLIP-seq
MIRT2217282	hsa-miR-4728-5p	CLIP-seq
MIRT2217285	hsa-miR-4739	CLIP-seq
MIRT2217287	hsa-miR-4756-5p	CLIP-seq
MIRT2217308	hsa-miR-564	CLIP-seq
MIRT2217312	hsa-miR-608	CLIP-seq
MIRT2217313	hsa-miR-620	CLIP-seq

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	33961781, 34819669
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	26975899
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061891	Function	Calcium ion sensor activity	IBA
GO:0061891	Function	Calcium ion sensor activity	IMP	26975899
GO:1900069	Process	Regulation of cellular hyperosmotic salinity response	IMP	26975899

MIM	HGNC	e!Ensembl
611617	29556	ENSG00000115468

Protein

UniProt ID

Q9BUP0

Protein name

EF-hand domain-containing protein D1 (EF-hand domain-containing protein 1) (Swiprosin-2)

Protein function

Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production (PubMed:26975899). May play a role in neuronal differentiation (By similarity). {ECO:0000250|UniProtKB:

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13499	EF-hand_7	92 → 156	EF-hand domain pair	Domain

Sequence

MASEELACKLERRLRREEAEESGPQLAPLGAPAPEPKPEPEPPARAPTASADAELSAQLS
RRLDINEGAARPRRCRVFNPYTEFPEFSRRLIKDLESMFKLYDAGRDGFIDLMELKLMME
KLGAPQTHLGLKSMIKEVDEDFDGKLSFREFLLIFHKAAAGELQEDSGLMALAKLSEIDV
ALEGVKGAKNFFEAKVQALSSASKFEAELKAEQDERKREEEERRLRQAAFQKLKANFNT

Sequence length

239

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia-microphthalmia syndrome	N/A	N/A	ClinVar
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Atherosclerosis	Associate	40441253
Carcinoma Renal Cell	Associate	36747492
Colorectal Neoplasms	Associate	24861485
Neoplasm Metastasis	Inhibit	36747492

EFHD1 (EF-hand domain family member D1)