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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	125170
Gene name	Mitochondrial elongation factor 2
Gene symbol	MIEF2
Synonyms (NCBI Gene)	COXPD49D3BMID49SMCR7
Chromosome	17
Chromosome location	17p11.2
Summary	This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments	Reference
MIRT742269	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT742270	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT742271	hsa-miR-4263	HITS-CLIP	23824327
MIRT742272	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT742269	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT742473	hsa-miR-1289	HITS-CLIP	23824327
MIRT742474	hsa-miR-4294	HITS-CLIP	23824327
MIRT742270	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT742475	hsa-miR-3198	HITS-CLIP	23824327
MIRT742476	hsa-miR-4309	HITS-CLIP	23824327
MIRT742271	hsa-miR-4263	HITS-CLIP	23824327
MIRT742272	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT742477	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT755164	hsa-miR-302f	PAR-CLIP	23592263
MIRT755165	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT755166	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT755167	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT755168	hsa-miR-302b-5p	PAR-CLIP	23592263
MIRT755169	hsa-miR-302d-5p	PAR-CLIP	23592263
MIRT755170	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT755171	hsa-miR-1827	PAR-CLIP	23592263
MIRT755172	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT755173	hsa-miR-3612	PAR-CLIP	23592263
MIRT755174	hsa-miR-650	PAR-CLIP	23592263
MIRT755175	hsa-miR-552-5p	PAR-CLIP	23592263

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 21508961, 23283981, 25416956, 29464060, 32296183, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	23921378
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IDA	21508961
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005777	Component	Peroxisome	TAS	23921378
GO:0007005	Process	Mitochondrion organization	IDA	21508961
GO:0007005	Process	Mitochondrion organization	IEA
GO:0008053	Process	Mitochondrial fusion	IMP	23921378
GO:0010821	Process	Regulation of mitochondrion organization	IMP	29361167
GO:0016020	Component	Membrane	IEA
GO:0090141	Process	Positive regulation of mitochondrial fission	IBA
GO:0090141	Process	Positive regulation of mitochondrial fission	IDA	23283981, 23530241
GO:0090141	Process	Positive regulation of mitochondrial fission	IEA
GO:0090141	Process	Positive regulation of mitochondrial fission	TAS	23921378
GO:0090314	Process	Positive regulation of protein targeting to membrane	IDA	23921378
GO:0090314	Process	Positive regulation of protein targeting to membrane	IDA	23283981

MIM	HGNC	e!Ensembl
615498	17920	ENSG00000177427

Q96C03

Protein name

Mitochondrial dynamics protein MID49 (Mitochondrial dynamics protein of 49 kDa) (Mitochondrial elongation factor 2) (Smith-Magenis syndrome chromosomal region candidate gene 7 protein)

Protein function

Mitochondrial outer membrane protein involved in the regulation of mitochondrial organization (PubMed:29361167). It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protei

PDB

5WP9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03281	Mab-21	319 → 443	Mab-21 protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues tested with highest expression in heart and skeletal muscle. {ECO:0000269|PubMed:11997338}.

Sequence

MAEFSQKRGKRRSDEGLGSMVDFLLANARLVLGVGGAAVLGIATLAVKRFIDRATSPRDE
DDTKADSWKELSLLKATPHLQPRPPPAALSQPVLPLAPSSSAPEGPAETDPEVTPQLSSP
APLCLTLQERLLAFERDRVTIPAAQVALAKQLAGDIALELQAYFRSKFPELPFGAFVPGG
PLYDGLQAGAADHVRLLVPLVLEPGLWSLVPGVDTVARDPRCWAVRRTQLEFCPRGSSPW
DRFLVGGYLSSRVLLELLRKALAASVNWPAIGSLLGCLIRPSMASEELLLEVQHERLELT
VAVLVAVPGVDADDRLLLAWPLEGLAGNLWLQDLYPVEAARLRALDDHDAGTRRRLLLLL
CAVCRGCSALGQLGRGHLTQVVLRLGEDNVDWTEEALGERFLQALELLIGSLEQASLPCH
FNPSVNLFSSLREEEIDDIGYALYSGLQEPEGLL

Sequence length

454

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation deficiency 49	Pathogenic	rs1978513963	RCV001257152	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29431643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28251664, 29361167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	29361167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	29361167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33414447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	33450375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MIEF2 (mitochondrial elongation factor 2)