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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7284
Gene name Gene Name - the full gene name approved by the HGNC.	Tu translation elongation factor, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TUFM
Synonyms (NCBI Gene) Gene synonyms aliases	COXPD4, EF-TuMT, EFTU, P43
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has b

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs146326033	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs863224246	T>C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(137)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050010	hsa-miR-28-5p	CLASH	23622248
MIRT049214	hsa-miR-92a-3p	CLASH	23622248
MIRT045200	hsa-miR-186-5p	CLASH	23622248
MIRT043186	hsa-miR-324-5p	CLASH	23622248
MIRT043186	hsa-miR-324-5p	CLASH	23622248
MIRT042804	hsa-miR-339-5p	CLASH	23622248
MIRT039619	hsa-miR-615-3p	CLASH	23622248
MIRT039619	hsa-miR-615-3p	CLASH	23622248
MIRT052711	hsa-miR-1260b	CLASH	23622248
MIRT1463661	hsa-miR-1909	CLIP-seq
MIRT1463662	hsa-miR-1972	CLIP-seq
MIRT1463663	hsa-miR-2355-5p	CLIP-seq
MIRT1463664	hsa-miR-3130-3p	CLIP-seq
MIRT1463665	hsa-miR-4468	CLIP-seq
MIRT1463666	hsa-miR-4514	CLIP-seq
MIRT1463667	hsa-miR-4645-5p	CLIP-seq
MIRT1463668	hsa-miR-4663	CLIP-seq
MIRT1463669	hsa-miR-4673	CLIP-seq
MIRT1463670	hsa-miR-4692	CLIP-seq
MIRT1463671	hsa-miR-4755-3p	CLIP-seq
MIRT1463672	hsa-miR-4756-3p	CLIP-seq
MIRT1463673	hsa-miR-4793-3p	CLIP-seq
MIRT1463674	hsa-miR-940	CLIP-seq
MIRT1923054	hsa-miR-2355-3p	CLIP-seq
MIRT1923055	hsa-miR-3909	CLIP-seq
MIRT1923056	hsa-miR-4646-3p	CLIP-seq
MIRT1923057	hsa-miR-676	CLIP-seq
MIRT2139399	hsa-miR-1233	CLIP-seq
MIRT2139400	hsa-miR-1243	CLIP-seq
MIRT2139401	hsa-miR-1245b-5p	CLIP-seq
MIRT2139402	hsa-miR-1301	CLIP-seq
MIRT1463661	hsa-miR-1909	CLIP-seq
MIRT2139403	hsa-miR-3142	CLIP-seq
MIRT2139404	hsa-miR-3654	CLIP-seq
MIRT2139405	hsa-miR-4419a	CLIP-seq
MIRT2139406	hsa-miR-4436b-3p	CLIP-seq
MIRT2139407	hsa-miR-4459	CLIP-seq
MIRT2139408	hsa-miR-4510	CLIP-seq
MIRT2139409	hsa-miR-4650-5p	CLIP-seq
MIRT2139410	hsa-miR-4659a-5p	CLIP-seq
MIRT2139411	hsa-miR-4659b-5p	CLIP-seq
MIRT2139412	hsa-miR-4712-3p	CLIP-seq
MIRT2139413	hsa-miR-4722-5p	CLIP-seq
MIRT2139414	hsa-miR-4761-3p	CLIP-seq
MIRT2139415	hsa-miR-4779	CLIP-seq
MIRT2139416	hsa-miR-4794	CLIP-seq
MIRT2139417	hsa-miR-5047	CLIP-seq
MIRT2139418	hsa-miR-671-5p	CLIP-seq
MIRT2139400	hsa-miR-1243	CLIP-seq
MIRT2139401	hsa-miR-1245b-5p	CLIP-seq
MIRT1463661	hsa-miR-1909	CLIP-seq
MIRT1463662	hsa-miR-1972	CLIP-seq
MIRT2360121	hsa-miR-22	CLIP-seq
MIRT2139403	hsa-miR-3142	CLIP-seq
MIRT2139404	hsa-miR-3654	CLIP-seq
MIRT2360122	hsa-miR-3940-5p	CLIP-seq
MIRT2360123	hsa-miR-4290	CLIP-seq
MIRT2139406	hsa-miR-4436b-3p	CLIP-seq
MIRT2139407	hsa-miR-4459	CLIP-seq
MIRT2360124	hsa-miR-4507	CLIP-seq
MIRT2139409	hsa-miR-4650-5p	CLIP-seq
MIRT2139412	hsa-miR-4712-3p	CLIP-seq
MIRT2139413	hsa-miR-4722-5p	CLIP-seq
MIRT2360125	hsa-miR-4731-5p	CLIP-seq
MIRT2139414	hsa-miR-4761-3p	CLIP-seq
MIRT2139415	hsa-miR-4779	CLIP-seq
MIRT2139416	hsa-miR-4794	CLIP-seq
MIRT2139418	hsa-miR-671-5p	CLIP-seq
MIRT1463674	hsa-miR-940	CLIP-seq
MIRT2139399	hsa-miR-1233	CLIP-seq
MIRT2139400	hsa-miR-1243	CLIP-seq
MIRT2139401	hsa-miR-1245b-5p	CLIP-seq
MIRT2139402	hsa-miR-1301	CLIP-seq
MIRT1463661	hsa-miR-1909	CLIP-seq
MIRT1463662	hsa-miR-1972	CLIP-seq
MIRT2360121	hsa-miR-22	CLIP-seq
MIRT1463663	hsa-miR-2355-5p	CLIP-seq
MIRT2139403	hsa-miR-3142	CLIP-seq
MIRT2139404	hsa-miR-3654	CLIP-seq
MIRT2360122	hsa-miR-3940-5p	CLIP-seq
MIRT2360123	hsa-miR-4290	CLIP-seq
MIRT2139405	hsa-miR-4419a	CLIP-seq
MIRT2139406	hsa-miR-4436b-3p	CLIP-seq
MIRT2139407	hsa-miR-4459	CLIP-seq
MIRT2360124	hsa-miR-4507	CLIP-seq
MIRT2139408	hsa-miR-4510	CLIP-seq
MIRT1463666	hsa-miR-4514	CLIP-seq
MIRT1463667	hsa-miR-4645-5p	CLIP-seq
MIRT2139409	hsa-miR-4650-5p	CLIP-seq
MIRT2139410	hsa-miR-4659a-5p	CLIP-seq
MIRT2139411	hsa-miR-4659b-5p	CLIP-seq
MIRT1463669	hsa-miR-4673	CLIP-seq
MIRT1463670	hsa-miR-4692	CLIP-seq
MIRT2139412	hsa-miR-4712-3p	CLIP-seq
MIRT2139413	hsa-miR-4722-5p	CLIP-seq
MIRT2360125	hsa-miR-4731-5p	CLIP-seq
MIRT1463671	hsa-miR-4755-3p	CLIP-seq
MIRT2139414	hsa-miR-4761-3p	CLIP-seq
MIRT2139415	hsa-miR-4779	CLIP-seq
MIRT2139416	hsa-miR-4794	CLIP-seq
MIRT2139417	hsa-miR-5047	CLIP-seq
MIRT2139418	hsa-miR-671-5p	CLIP-seq
MIRT1463674	hsa-miR-940	CLIP-seq
MIRT2139399	hsa-miR-1233	CLIP-seq
MIRT2139400	hsa-miR-1243	CLIP-seq
MIRT2139401	hsa-miR-1245b-5p	CLIP-seq
MIRT2139402	hsa-miR-1301	CLIP-seq
MIRT1463661	hsa-miR-1909	CLIP-seq
MIRT1463662	hsa-miR-1972	CLIP-seq
MIRT2360121	hsa-miR-22	CLIP-seq
MIRT1463663	hsa-miR-2355-5p	CLIP-seq
MIRT2139403	hsa-miR-3142	CLIP-seq
MIRT2139404	hsa-miR-3654	CLIP-seq
MIRT2360122	hsa-miR-3940-5p	CLIP-seq
MIRT2360123	hsa-miR-4290	CLIP-seq
MIRT2139405	hsa-miR-4419a	CLIP-seq
MIRT2139406	hsa-miR-4436b-3p	CLIP-seq
MIRT2139407	hsa-miR-4459	CLIP-seq
MIRT2360124	hsa-miR-4507	CLIP-seq
MIRT2139408	hsa-miR-4510	CLIP-seq
MIRT1463666	hsa-miR-4514	CLIP-seq
MIRT1463667	hsa-miR-4645-5p	CLIP-seq
MIRT2139409	hsa-miR-4650-5p	CLIP-seq
MIRT2139410	hsa-miR-4659a-5p	CLIP-seq
MIRT2139411	hsa-miR-4659b-5p	CLIP-seq
MIRT1463669	hsa-miR-4673	CLIP-seq
MIRT1463670	hsa-miR-4692	CLIP-seq
MIRT2139412	hsa-miR-4712-3p	CLIP-seq
MIRT2139413	hsa-miR-4722-5p	CLIP-seq
MIRT2360125	hsa-miR-4731-5p	CLIP-seq
MIRT1463671	hsa-miR-4755-3p	CLIP-seq
MIRT2139414	hsa-miR-4761-3p	CLIP-seq
MIRT2139415	hsa-miR-4779	CLIP-seq
MIRT2139416	hsa-miR-4794	CLIP-seq
MIRT2139417	hsa-miR-5047	CLIP-seq
MIRT2139418	hsa-miR-671-5p	CLIP-seq
MIRT1463674	hsa-miR-940	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	ISS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003746	Function	Translation elongation factor activity	IBA
GO:0003746	Function	Translation elongation factor activity	IDA	9332382
GO:0003746	Function	Translation elongation factor activity	IEA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	ISS
GO:0005515	Function	Protein binding	IPI	11741979, 25416956, 28611246, 31515488
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	ISS
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	9332382
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0006412	Process	Translation	IEA
GO:0006414	Process	Translational elongation	IDA	9332382
GO:0006414	Process	Translational elongation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070125	Process	Mitochondrial translational elongation	IBA

MIM	HGNC	e!Ensembl
602389	12420	ENSG00000178952

Protein

UniProt ID

P49411

Protein name

Elongation factor Tu, mitochondrial (EF-Tu) (EC 3.6.5.3) (P43)

Protein function

GTP hydrolase that promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Also plays a role in the regulation of autophagy and innate immunity. Recruits ATG5-ATG12 and NLRX1 at mitochondria a

PDB

7A5G , 7O9K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00009	GTP_EFTU	55 → 249	Elongation factor Tu GTP binding domain	Domain
PF03144	GTP_EFTU_D2	272 → 341	Elongation factor Tu domain 2	Domain
PF03143	GTP_EFTU_D3	345 → 440	Elongation factor Tu C-terminal domain	Domain

Sequence

MAAATLLRATPHFSGLAAGRTFLLQGLLRLLKAPALPLLCRGLAVEAKKTYVRDKPHVNV
GTIGHVDHGKTTLTAAITKILAEGGGAKFKKYEEIDNAPEERARGITINAAHVEYSTAAR
HYAHTDCPGHADYVKNMITGTAPLDGCILVVAANDGPMPQTREHLLLARQIGVEHVVVYV
NKADAVQDSEMVELVELEIRELLTEFGYKGEETPVIVGSALCALEGRDPELGLKSVQKLL
DAVDTYIPVPARDLEKPFLLPVEAVYSVPGRGTVVTGTLERGILKKGDECELLGHSKNIR
TVVTGIEMFHKSLERAEAGDNLGALVRGLKREDLRRGLVMVKPGSIKPHQKVEAQVYILS
KEEGGRHKPFVSHFMPVMFSLTWDMACRIILPPEKELAMPGEDLKFNLILRQPMILEKGQ
RFTLRDGNRTIGTGLVTNTLAMTEEEKNIKWG

Sequence length

452

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Combined Oxidative Phosphorylation Deficiency	combined oxidative phosphorylation defect type 4	rs1057518742, rs1057518743, rs924099073	N/A

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.
Diabetes	Youth-onset type 2 diabetes	N/A	N/A	GWAS
Hypogonadism	Hypogonadism	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease (MTAG)	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	28449687
Adenocarcinoma of Lung	Associate	38213773
Adenoma	Stimulate	28449687
Alzheimer Disease	Associate	34700051
Brain Diseases	Associate	17160893
Cholangiocarcinoma	Associate	33299012
Chromosome Aberrations	Associate	17160893
Colorectal Neoplasms	Associate	28449687
Congenital Abnormalities	Associate	17033963
Cytochrome c Oxidase Deficiency	Associate	28132884
Diabetes Mellitus Type 2	Associate	39280009
Epilepsy Familial Mesial Temporal Lobe	Associate	28485803
Hypertensive Retinopathy	Stimulate	39280009
Infantile Epileptic Dyskinetic Encephalopathy	Associate	17160893
Inflammatory Bowel Diseases	Associate	24956270
Kidney Diseases	Stimulate	39280009
Leukodystrophy Metachromatic	Associate	17160893, 28132884
Leukoencephalopathies	Associate	28132884
Mitochondrial Diseases	Associate	21169334, 25735936
Neoplasms	Associate	23104437, 28449687
Nervous System Diseases	Associate	39280009
Obesity	Associate	26449484
Polymicrogyria	Associate	17160893, 28132884
Polyposis Syndrome Hereditary Mixed 1	Stimulate	28449687
Pulmonary Disease Chronic Obstructive	Associate	26771213
Retinal Dysplasia	Associate	28449687
Squamous Cell Carcinoma of Head and Neck	Associate	26876213

TUFM (Tu translation elongation factor, mitochondrial)