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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1917
Gene name	Eukaryotic translation elongation factor 1 alpha 2
Gene symbol	EEF1A2
Synonyms (NCBI Gene)	DEE33EEF1ALEF-1-alpha-2EF1AEIEE33HS1MRD38STNSTNL
Chromosome	20
Chromosome location	20q13.33
Summary	This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the othe

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777162	C>T	Pathogenic	Coding sequence variant, missense variant
rs757556226	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786205865	C>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs879255373	TTCTGCGCC>-,TTCTGCGCCTTCTGCGCC	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe insertion, inframe deletion
rs886039346	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs886041197	C>T	Pathogenic	Missense variant, coding sequence variant
rs886042041	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1057521655	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795618	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691663	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555883345	->C	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1555883384	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555883486	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555883501	T>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555883505	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555883975	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1568994522	G>A	Likely-pathogenic	Coding sequence variant, missense variant

100

Show/Hide all (100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020876	hsa-miR-155-5p	Proteomics	18668040
MIRT024775	hsa-miR-215-5p	Microarray	19074876
MIRT026692	hsa-miR-192-5p	Microarray	19074876
MIRT043720	hsa-miR-342-3p	CLASH	23622248
MIRT054492	hsa-miR-663a	Luciferase reporter assayWestern blotqRT-PCR	23695020
MIRT054492	hsa-miR-663a	Luciferase reporter assayWestern blotqRT-PCR	23695020
MIRT054492	hsa-miR-663a	Luciferase reporter assayWestern blotqRT-PCR	23695020
MIRT054493	hsa-miR-744-5p	Luciferase reporter assayWestern blotqRT-PCR	23695020
MIRT054493	hsa-miR-744-5p	Luciferase reporter assayWestern blotqRT-PCR	23695020
MIRT054493	hsa-miR-744-5p	Luciferase reporter assayWestern blotqRT-PCR	23695020
MIRT440750	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440750	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT953085	hsa-miR-1238	CLIP-seq
MIRT953086	hsa-miR-1908	CLIP-seq
MIRT953087	hsa-miR-2277-5p	CLIP-seq
MIRT953088	hsa-miR-3124-3p	CLIP-seq
MIRT953089	hsa-miR-3178	CLIP-seq
MIRT953090	hsa-miR-3180	CLIP-seq
MIRT953091	hsa-miR-3180-3p	CLIP-seq
MIRT953092	hsa-miR-3185	CLIP-seq
MIRT953093	hsa-miR-3196	CLIP-seq
MIRT953094	hsa-miR-3654	CLIP-seq
MIRT953095	hsa-miR-4436b-5p	CLIP-seq
MIRT953096	hsa-miR-4486	CLIP-seq
MIRT953097	hsa-miR-4488	CLIP-seq
MIRT953098	hsa-miR-4511	CLIP-seq
MIRT953099	hsa-miR-4535	CLIP-seq
MIRT953100	hsa-miR-4635	CLIP-seq
MIRT953101	hsa-miR-4697-5p	CLIP-seq
MIRT953102	hsa-miR-4709-3p	CLIP-seq
MIRT953103	hsa-miR-492	CLIP-seq
MIRT953104	hsa-miR-548ad	CLIP-seq
MIRT953105	hsa-miR-566	CLIP-seq
MIRT953106	hsa-miR-661	CLIP-seq
MIRT953107	hsa-miR-663	CLIP-seq
MIRT953108	hsa-miR-671-5p	CLIP-seq
MIRT953109	hsa-miR-744	CLIP-seq
MIRT953086	hsa-miR-1908	CLIP-seq
MIRT1548170	hsa-miR-342-5p	CLIP-seq
MIRT1548171	hsa-miR-4466	CLIP-seq
MIRT1548172	hsa-miR-4664-5p	CLIP-seq
MIRT1548173	hsa-miR-4706	CLIP-seq
MIRT1548174	hsa-miR-4749-5p	CLIP-seq
MIRT1548175	hsa-miR-4787-3p	CLIP-seq
MIRT1548176	hsa-miR-4787-5p	CLIP-seq
MIRT953107	hsa-miR-663	CLIP-seq
MIRT1548177	hsa-miR-675	CLIP-seq
MIRT953109	hsa-miR-744	CLIP-seq
MIRT953085	hsa-miR-1238	CLIP-seq
MIRT953086	hsa-miR-1908	CLIP-seq
MIRT953088	hsa-miR-3124-3p	CLIP-seq
MIRT953089	hsa-miR-3178	CLIP-seq
MIRT953090	hsa-miR-3180	CLIP-seq
MIRT953091	hsa-miR-3180-3p	CLIP-seq
MIRT953092	hsa-miR-3185	CLIP-seq
MIRT953093	hsa-miR-3196	CLIP-seq
MIRT953094	hsa-miR-3654	CLIP-seq
MIRT953095	hsa-miR-4436b-5p	CLIP-seq
MIRT953096	hsa-miR-4486	CLIP-seq
MIRT953097	hsa-miR-4488	CLIP-seq
MIRT953098	hsa-miR-4511	CLIP-seq
MIRT953099	hsa-miR-4535	CLIP-seq
MIRT953100	hsa-miR-4635	CLIP-seq
MIRT953101	hsa-miR-4697-5p	CLIP-seq
MIRT953102	hsa-miR-4709-3p	CLIP-seq
MIRT953103	hsa-miR-492	CLIP-seq
MIRT953105	hsa-miR-566	CLIP-seq
MIRT953106	hsa-miR-661	CLIP-seq
MIRT953107	hsa-miR-663	CLIP-seq
MIRT953108	hsa-miR-671-5p	CLIP-seq
MIRT2217006	hsa-miR-1538	CLIP-seq
MIRT953086	hsa-miR-1908	CLIP-seq
MIRT2217007	hsa-miR-31	CLIP-seq
MIRT2217008	hsa-miR-3128	CLIP-seq
MIRT2217009	hsa-miR-3166	CLIP-seq
MIRT953089	hsa-miR-3178	CLIP-seq
MIRT953090	hsa-miR-3180	CLIP-seq
MIRT953091	hsa-miR-3180-3p	CLIP-seq
MIRT953092	hsa-miR-3185	CLIP-seq
MIRT953093	hsa-miR-3196	CLIP-seq
MIRT2217010	hsa-miR-3689d	CLIP-seq
MIRT953096	hsa-miR-4486	CLIP-seq
MIRT953097	hsa-miR-4488	CLIP-seq
MIRT953098	hsa-miR-4511	CLIP-seq
MIRT2217011	hsa-miR-4512	CLIP-seq
MIRT953100	hsa-miR-4635	CLIP-seq
MIRT953101	hsa-miR-4697-5p	CLIP-seq
MIRT953102	hsa-miR-4709-3p	CLIP-seq
MIRT2217012	hsa-miR-4720-5p	CLIP-seq
MIRT2217013	hsa-miR-4745-3p	CLIP-seq
MIRT2217014	hsa-miR-4757-5p	CLIP-seq
MIRT2217015	hsa-miR-4771	CLIP-seq
MIRT1548175	hsa-miR-4787-3p	CLIP-seq
MIRT2217016	hsa-miR-4799-3p	CLIP-seq
MIRT2217017	hsa-miR-658	CLIP-seq
MIRT953107	hsa-miR-663	CLIP-seq
MIRT953108	hsa-miR-671-5p	CLIP-seq
MIRT953109	hsa-miR-744	CLIP-seq
MIRT953086	hsa-miR-1908	CLIP-seq
MIRT953107	hsa-miR-663	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003746	Function	Translation elongation factor activity	IBA
GO:0003746	Function	Translation elongation factor activity	IEA
GO:0003746	Function	Translation elongation factor activity	ISS
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	ISS
GO:0005515	Function	Protein binding	IPI	18448518, 19559761, 25416956, 28514442, 31046837, 31515488, 32296183, 32814053, 33961781
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IDA	12426392
GO:0005737	Component	Cytoplasm	IDA	12426392
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	36697828
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005853	Component	Eukaryotic translation elongation factor 1 complex	IEA
GO:0006412	Process	Translation	IBA
GO:0006412	Process	Translation	IEA
GO:0006414	Process	Translational elongation	IBA
GO:0006414	Process	Translational elongation	IEA
GO:0006414	Process	Translational elongation	IEA
GO:0006414	Process	Translational elongation	ISS
GO:0008135	Function	Translation factor activity, RNA binding	NAS	8812466
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	17088255
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0090218	Process	Positive regulation of lipid kinase activity	IDA	17088255
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	NAS	20797626
GO:1904714	Process	Regulation of chaperone-mediated autophagy	NAS	20797626

MIM	HGNC	e!Ensembl
602959	3192	ENSG00000101210

Q05639

Protein name

Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6.5.-) (Eukaryotic elongation factor 1 A-2) (eEF1A-2) (Statin-S1)

Protein function

Translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis. Base pairing between the mRNA codon and the aa-tRNA anticodon promote

PDB

3C5J , 8B6Z

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00009	GTP_EFTU	5 → 238	Elongation factor Tu GTP binding domain	Domain
PF03144	GTP_EFTU_D2	260 → 327	Elongation factor Tu domain 2	Domain
PF03143	GTP_EFTU_D3	333 → 442	Elongation factor Tu C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain, heart, and skeletal muscle.

Sequence

MGKEKTHINIVVIGHVDSGKSTTTGHLIYKCGGIDKRTIEKFEKEAAEMGKGSFKYAWVL
DKLKAERERGITIDISLWKFETTKYYITIIDAPGHRDFIKNMITGTSQADCAVLIVAAGV
GEFEAGISKNGQTREHALLAYTLGVKQLIVGVNKMDSTEPAYSEKRYDEIVKEVSAYIKK
IGYNPATVPFVPISGWHGDNMLEPSPNMPWFKGWKVERKEGNASGVSLLEALDTILPPTR
PTDKPLRLPLQDVYKIGGIGTVPVGRVETGILRPGMVVTFAPVNITTEVKSVEMHHEALS
EALPGDNVGFNVKNVSVKDIRRGNVCGDSKSDPPQEAAQFTSQVIILNHPGQISAGYSPV
IDCHTAHIACKFAELKEKIDRRSGKKLEDNPKSLKSGDAAIVEMVPGKPMCVESFSQYPP
LGRFAVRDMRQTVAVGVIKNVEKKSGGAGKVTKSAQKAQKAGK

Sequence length

463

Interactions

View interactions

	KEGG
	Nucleocytoplasmic transport Legionellosis Leishmaniasis

516

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Complex neurodevelopmental disorder	Pathogenic	rs587777162	RCV006249589
Developmental and epileptic encephalopathy, 33	Pathogenic; Likely pathogenic	rs2082414178, rs587777162, rs2145946848, rs2145938177, rs2516786992, rs786205866, rs2516783448, rs2516773213, rs886039346, rs886042041, rs886041197, rs1057521655, rs1555883505, rs1555883384, rs1555883869 View all (5 more)	RCV001318268 RCV000087144 RCV002005428 RCV001975239 RCV002466321 RCV000193799 RCV002963044 RCV003223487 RCV000688443 RCV000703667 RCV001218047 RCV002289562 RCV000626030 RCV000653110 RCV000653112 RCV000687651 RCV000760283 RCV002463773 RCV001260873 RCV001252231
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy	Pathogenic; Likely pathogenic	rs587777162, rs786205866, rs886041197, rs1555883505, rs1555883384, rs2082362479, rs1359844902	RCV001030061 RCV001030064 RCV001030062 RCV001030066 RCV001030067 RCV001030068 RCV001030063
EEF1A2-related disorder	Pathogenic; Likely pathogenic	rs587777162, rs786205865, rs1555883505, rs1600908420	RCV003894943 RCV003397436 RCV004527627 RCV004545821
Intellectual disability	Pathogenic; Likely pathogenic	rs587777162, rs886042041	RCV000679972 RCV001260699
Intellectual disability, autosomal dominant 38	Pathogenic; Likely pathogenic	rs587777162, rs786205866, rs886042041, rs886041197, rs865888375, rs1555883505, rs1405800415, rs2082362479	RCV001775080 RCV000172840 RCV002502091 RCV001335885 RCV005871176 RCV000763059 RCV000760283 RCV002463773

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism	Uncertain significance	rs111392970	RCV001807535
Autosomal dominant epilepsy	Uncertain significance	rs2516783188	RCV003156150
Congenital heart disease	Likely benign	rs760400114	RCV005625628
Developmental disorder	Uncertain significance	rs2516783571	RCV003127287
Familial cancer of breast	Likely benign	rs141887309	RCV005905439
Global developmental delay	Uncertain significance	rs111392970	RCV001807535
Hereditary spastic paraplegia 46	Conflicting classifications of pathogenicity	rs2082414008	RCV003148974
Neurodevelopmental disorder	Uncertain significance	rs2145945553	RCV002277686
See cases	Uncertain significance	rs2145938834	RCV002252888
Seizure	Uncertain significance	rs111392970, rs2145938712	RCV001807535 RCV002275905
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs113570888	RCV005934628

Show/Hide Text Mining Associations (57)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	25009819
Adenocarcinoma	Associate	24039759
Adenocarcinoma	Stimulate	26898938
Adenocarcinoma of Lung	Associate	32881299
Adenoma	Stimulate	26898938
Arthritis Rheumatoid	Associate	18952640
Autoimmune Diseases	Associate	19309558
Breast Neoplasms	Associate	1370760, 16156888, 19646290, 24039759, 25951175, 25971350, 38012382
Carcinogenesis	Associate	31220107
Carcinoma Hepatocellular	Stimulate	24885363
Carcinoma Hepatocellular	Associate	27122673
Carcinoma Non Small Cell Lung	Associate	30660770
Carcinoma Ovarian Epithelial	Associate	18661515
Carcinoma Renal Cell	Stimulate	17437010
Carcinoma Renal Cell	Associate	24339735
Colonic Neoplasms	Associate	36518255, 37626132
Colorectal Neoplasms	Associate	28177905
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	11071633
Developmental Disabilities	Associate	26740508
Endometriosis	Associate	26059197
Epidermolysis Bullosa Dystrophica	Associate	34884578
Epilepsy	Associate	32196822
Epilepsy Generalized	Associate	31327507
Fetal Growth Retardation	Stimulate	19359039
Fibroadenoma	Associate	1370760
Hemophilia A	Associate	30996250, 37792826
HIV Infections	Associate	25009819
Hypoxia	Stimulate	38012382
Immune System Diseases	Associate	18323783
Infantile Epileptic Dyskinetic Encephalopathy	Associate	32196822
Intellectual Disability	Associate	32196822
Leukemia Myeloid Acute	Associate	32347192
Lung Neoplasms	Associate	23533664, 38273748
Lung Neoplasms	Stimulate	29342219, 33728331
Lymphatic Metastasis	Associate	32881299
Neoplasms	Associate	17373842, 18661515, 19707524, 22002548, 22095224, 23695020, 24039759, 24064971, 25951175, 28923030, 32752259, 38012382
Neoplasms	Stimulate	29342219
Neurodegenerative Diseases	Associate	32196822
Neurologic Manifestations	Associate	37051183
Nevus Sebaceous of Jadassohn	Associate	38247858
Non Muscle Invasive Bladder Neoplasms	Associate	28156048
Osteoarthritis	Associate	38247858
Ovarian Neoplasms	Associate	16156888, 17437010, 18661515, 28156048
Ovarian Neoplasms	Stimulate	26059197
Parkinson Disease	Associate	37051183
Polyps	Stimulate	26898938
Precancerous Conditions	Associate	24885363
Prostatic Neoplasms	Associate	19707524, 22095224, 28923030, 33934205
Prostatitis	Associate	22095224
Rett Syndrome	Associate	26740508
Sarcoma Kaposi	Associate	40016701
Schizophrenia	Associate	19309558
Stomach Neoplasms	Associate	16367923
Triple Negative Breast Neoplasms	Associate	31220107
Urinary Bladder Neoplasms	Associate	28156048
Uterine Cervical Neoplasms	Associate	36637958
Uveal melanoma	Associate	37725244

EEF1A2 (eukaryotic translation elongation factor 1 alpha 2)