EFHD1 (EF-hand domain family member D1)

Gene

• Entrez ID: 80303
• Gene name: EF-hand domain family member D1
• Gene symbol: EFHD1
• Synonyms (NCBI Gene): MST133, MSTP133, PP3051, SWS2
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 611617
• HGNC: 29556
• e!Ensembl: 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

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	40441253	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36747492	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24861485		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24861485	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations