Gene Gene information from NCBI Gene database.
Entrez ID 3692
Gene name Eukaryotic translation initiation factor 6
Gene symbol EIF6
Synonyms (NCBI Gene)
CABEIF3AITGB4BPb(2)gcneIF-6p27(BBP)p27BBP
Chromosome 20
Chromosome location 20q11.22
Summary Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The pro
miRNA miRNA information provided by mirtarbase database.
218
miRTarBase ID miRNA Experiments Reference
MIRT049555 hsa-miR-92a-3p CLASH 23622248
MIRT042302 hsa-miR-484 CLASH 23622248
MIRT537793 hsa-miR-505-3p PAR-CLIP 22012620
MIRT537794 hsa-miR-519d-5p PAR-CLIP 22012620
MIRT537792 hsa-miR-3616-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000054 Process Ribosomal subunit export from nucleus IBA
GO:0000054 Process Ribosomal subunit export from nucleus IEA
GO:0000460 Process Maturation of 5.8S rRNA IBA
GO:0000470 Process Maturation of LSU-rRNA IBA
GO:0003743 Function Translation initiation factor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602912 6159 ENSG00000242372
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56537
Protein name Eukaryotic translation initiation factor 6 (eIF-6) (B(2)GCN homolog) (B4 integrin interactor) (CAB) (p27(BBP))
Protein function Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm (PubMed:10085284, PubMed:14654845, PubMed:21536732, PubMed:32669547). Behaves as a stimulatory tra
PDB 6LQM , 6LSR , 6LSS , 6LU8 , 7OW7 , 8A3D , 8FKP , 8FKQ , 8FKR , 8FKS , 8FKT , 8FKU , 8FKV , 8FKW , 8FKX , 8FKY , 8FKZ , 8FL0 , 8FL2 , 8FL3 , 8FL4 , 8FL6 , 8FL7 , 8FL9 , 8FLA , 8FLB , 8FLC , 8FLD , 8FLE , 8FLF , 8IDT , 8IDY , 8IE3 , 8INE , 8INF , 8INK , 8IPD , 8IPX , 8IPY , 8IR1 , 8IR3 , 8OHD , 8OJ0 , 8OJ8 , 8RL2 , 9GMO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01912 eIF-6 4 204 eIF-6 family Family
Tissue specificity TISSUE SPECIFICITY: Expressed at very high levels in colon carcinoma with lower levels in normal colon and ileum and lowest levels in kidney and muscle (at protein level). {ECO:0000269|PubMed:11290417}.
Sequence
Sequence length 245
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Ribosome biogenesis in eukaryotes  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Exstrophy-epispadias complex Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OMPHALOCELE EXSTROPHY IMPERFORATE ANUS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SHWACHMAN SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 28931779
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30077122
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10676626
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 30585299 Associate
★☆☆☆☆
Found in Text Mining only
Biliary Tract Cancer Biliary Tract Cancer BEFREE 31586263
★☆☆☆☆
Found in Text Mining only
Biliary Tract Neoplasms Biliary tract neoplasms Pubtator 31586263 Associate
★☆☆☆☆
Found in Text Mining only
Bone Marrow Diseases Bone marrow diseases Pubtator 30585299 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 25151356
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25151356 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinogenesis Carcinogenesis Pubtator 30077122 Associate
★☆☆☆☆
Found in Text Mining only