EEFSEC (eukaryotic elongation factor, selenocysteine-tRNA specific)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 60678
• Gene name: Eukaryotic elongation factor, selenocysteine-tRNA specific
• Gene symbol: EEFSEC
• Synonyms (NCBI Gene): EFSEC, NEDPSB, SELB
• Chromosome: 3
• Chromosome location: 3q21.3

miRNA Show/Hide all (34)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041486	hsa-miR-193b-3p	CLASH	23622248
MIRT953396	hsa-miR-122	CLIP-seq
MIRT953397	hsa-miR-1293	CLIP-seq
MIRT953398	hsa-miR-1909	CLIP-seq
MIRT953399	hsa-miR-3135b	CLIP-seq
MIRT953400	hsa-miR-3652	CLIP-seq
MIRT953401	hsa-miR-3944-5p	CLIP-seq
MIRT953402	hsa-miR-4430	CLIP-seq
MIRT953403	hsa-miR-4483	CLIP-seq
MIRT953404	hsa-miR-4492	CLIP-seq
MIRT953405	hsa-miR-4498	CLIP-seq
MIRT953406	hsa-miR-574-5p	CLIP-seq
MIRT953407	hsa-miR-648	CLIP-seq
MIRT953408	hsa-miR-762	CLIP-seq
MIRT953409	hsa-miR-765	CLIP-seq
MIRT1982289	hsa-miR-1275	CLIP-seq
MIRT1982290	hsa-miR-4447	CLIP-seq
MIRT1982291	hsa-miR-4453	CLIP-seq
MIRT1982292	hsa-miR-4472	CLIP-seq
MIRT1982293	hsa-miR-4488	CLIP-seq
MIRT1982294	hsa-miR-4505	CLIP-seq
MIRT1982295	hsa-miR-4538	CLIP-seq
MIRT1982296	hsa-miR-4651	CLIP-seq
MIRT1982297	hsa-miR-4665-5p	CLIP-seq
MIRT1982298	hsa-miR-4697-5p	CLIP-seq
MIRT1982299	hsa-miR-608	CLIP-seq
MIRT2217089	hsa-miR-3190	CLIP-seq
MIRT2217090	hsa-miR-34a	CLIP-seq
MIRT2217091	hsa-miR-34c-5p	CLIP-seq
MIRT2217092	hsa-miR-3675-5p	CLIP-seq
MIRT2217093	hsa-miR-449a	CLIP-seq
MIRT2217094	hsa-miR-449b	CLIP-seq
MIRT2217095	hsa-miR-486-3p	CLIP-seq
MIRT2217096	hsa-miR-7	CLIP-seq

Gene ontology (GO) Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001514	Process	Selenocysteine incorporation	IBA
GO:0001514	Process	Selenocysteine incorporation	IDA	27708257, 35709277
GO:0001514	Process	Selenocysteine incorporation	IEA
GO:0001514	Process	Selenocysteine incorporation	IEA
GO:0003746	Function	Translation elongation factor activity	IBA
GO:0003746	Function	Translation elongation factor activity	IEA
GO:0003924	Function	GTPase activity	IDA	27708257, 35709277
GO:0003924	Function	GTPase activity	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006412	Process	Translation	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035368	Function	Selenocysteine insertion sequence binding	IEA
GO:0043021	Function	Ribonucleoprotein complex binding	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 607695
• HGNC: 24614
• e!Ensembl: ENSG00000132394

Protein

• UniProt ID: P57772
• Protein name: Selenocysteine-specific elongation factor (EC 3.6.5.-) (Elongation factor sec) (Eukaryotic elongation factor, selenocysteine-tRNA-specific)
• Protein function: Translation factor required for the incorporation of the rare amino acid selenocysteine encoded by UGA codons (PubMed:27708257, PubMed:35709277). Replaces the eRF1-eRF3-GTP ternary complex for the insertion of selenocysteine directed by the UGA
• PDB: 5IZK , 5IZL , 5IZM , 7ZJW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00009	GTP_EFTU	5 → 315	Elongation factor Tu GTP binding domain	Domain

• Sequence:

  MAGRRVNVNVGVLGHIDSGKTALARALSTTASTAAFDKQPQSRERGITLDLGFSCFSVPL
  PARLRSSLPEFQAAPEAEPEPGEPLLQVTLVDCPGHASLIRTIIGGAQIIDLMMLVIDVT
  KGMQTQSAECLVIGQIACQKLVVVLNKIDLLPEGKRQAAIDKMTKKMQKTLENTKFRGAP
  IIPVAAKPGGPEAPETEAPQGIPELIELLTSQISIPTRDPSGPFLMSVDHCFSIKGQGTV
  MTGTILSGSISLGDSVEIPALKVVKKVKSMQMFHMPITSAMQGDRLGICVTQFDPKLLER
  GLVCAPESLHTVHAALISVEKIPYFRGPLQTKAKFHITVGHETVMGRLMFFSPAPDNFDQ
  EPILDSFNFSQEYLFQEQYLSKDLTPAVTDNDEADKKAGQATEGHCPRQQWALVEFEKPV
  TCPRLCLVIGSRLDADIHTNTCRLAFHGILLHGLEDRNYADSFLPRLKVYKLKHKHGLVE
  RAMDDYSVIGRSLFKKETNIQLFVGLKVHLSTGELGIIDSAFGQSGKFKIHIPGGLSPES
  KKILTPALKKRARAGRGEATRQEESAERSEPSQHVVLSLTFKRYVFDTHKRMVQSP

• Sequence length: 596

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive non-syndromic intellectual disability	Likely pathogenic	rs1171115208	RCV003992827	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Likely pathogenic	rs765639766	RCV003992828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with progressive spasticity and brain abnormalities	Likely pathogenic	rs765639766	RCV005220815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (21)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASTHMA	—	GWAS catalog	30929738, 31669095, 32296059, 36777996, 41213931	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	40645996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	30929738, 31669095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	28166215, 30804561, 30940143, 33106845, 37069358	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	30093612	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	30093612	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	30093612	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	37544299	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	38102678	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	30940143	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS	—	GWAS catalog	25108383	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	19767754, 29892016, 32514122, 33293427, 33398198, 34290314, 34594039, 37340002, 37945903, 38390760, 38632662, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	19767754, 29892016, 32514122, 33290408, 33293427, 33398198, 34290314, 34594039, 37340002, 37945903, 38390760, 38632662, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	28166215	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	30595370	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764, 35396580	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	33290408	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	40050615	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE POLYP	—	GWAS catalog	40069456	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (19)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	31373687		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	30929738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Diseases	Cerebellar diseases	Pubtator	40652205	Associate	★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	28166215, 30804561, 30940143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CTD_human_DG	28166215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	30587704	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	40652205	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	30093612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34675350	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	GWASCAT_DG	25108383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	19767754		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37466550	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	19767754, 29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19767754, 22077888, 26068399	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29313708	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	27769046		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

FAM13A 3 shared diseasesObstructive airway disease, Gastroesophageal reflux disease, Chronic obstructive pulmonary disease 3 shared evidence sourcesDisgenet (Obstructive airway disease), GWAS catalog (Gastroesophageal reflux disease), CTD (Chronic obstructive pulmonary disease) Related via 3 shared diseases including Obstructive airway disease, Gastroesophageal reflux disease — evidence mostly Disgenet. LCN1 2 shared diseasesObstructive airway disease, Chronic obstructive pulmonary disease 2 shared evidence sourcesDisgenet (Obstructive airway disease), CTD (Chronic obstructive pulmonary disease) Related via 2 shared diseases including Obstructive airway disease, Chronic obstructive pulmonary disease — evidence mostly Disgenet. CASP8AP2 2 shared diseasesEndometrial cancer, Endometrial neoplasms 2 shared evidence sourcesGWAS catalog (Endometrial cancer), GWAS catalog (Endometrial neoplasms) Related via 2 shared diseases including Endometrial cancer, Endometrial neoplasms — evidence mostly GWAS catalog. EVI2A 2 shared diseasesEndometrial cancer, Endometrial neoplasms 2 shared evidence sourcesGWAS catalog (Endometrial cancer), GWAS catalog (Endometrial neoplasms) Related via 2 shared diseases including Endometrial cancer, Endometrial neoplasms — evidence mostly GWAS catalog. GNL2 2 shared diseasesEndometrial cancer, Endometrial neoplasms 2 shared evidence sourcesGWAS catalog (Endometrial cancer), GWAS catalog (Endometrial neoplasms) Related via 2 shared diseases including Endometrial cancer, Endometrial neoplasms — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FAM13A	3	["Obstructive airway disease","Gastroesophageal reflux disease","Chronic obstructive pulmonary disease"]	0	[]	3	["Disgenet (Obstructive airway disease)","GWAS catalog (Gastroesophageal reflux disease)","CTD (Chronic obstructive pulmonary disease)"]
LCN1	2	["Obstructive airway disease","Chronic obstructive pulmonary disease"]	0	[]	2	["Disgenet (Obstructive airway disease)","CTD (Chronic obstructive pulmonary disease)"]
CASP8AP2	2	["Endometrial cancer","Endometrial neoplasms"]	0	[]	2	["GWAS catalog (Endometrial cancer)","GWAS catalog (Endometrial neoplasms)"]
EVI2A	2	["Endometrial cancer","Endometrial neoplasms"]	0	[]	2	["GWAS catalog (Endometrial cancer)","GWAS catalog (Endometrial neoplasms)"]
GNL2	2	["Endometrial cancer","Endometrial neoplasms"]	0	[]	2	["GWAS catalog (Endometrial cancer)","GWAS catalog (Endometrial neoplasms)"]

Diseases Linked via Similar Genes

Open angle glaucoma Linked via 2 of 5 related genesFAM13A, GNL2 Attention deficit hyperactivity disorder Linked via 1 of 5 related genesFAM13A Bronchitis Linked via 1 of 5 related genesFAM13A Gout Linked via 1 of 5 related genesFAM13A Idiopathic pulmonary fibrosis Linked via 1 of 5 related genesFAM13A

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Open angle glaucoma	2	["FAM13A","GNL2"]
Attention deficit hyperactivity disorder	1	["FAM13A"]
Bronchitis	1	["FAM13A"]
Gout	1	["FAM13A"]
Idiopathic pulmonary fibrosis	1	["FAM13A"]