Gene Gene information from NCBI Gene database.
Entrez ID 28969
Gene name Basic leucine zipper and W2 domains 2
Gene symbol BZW2
Synonyms (NCBI Gene)
5MP1HSPC028MST017MSTP017
Chromosome 7
Chromosome location 7p21.1
miRNA miRNA information provided by mirtarbase database.
181
miRTarBase ID miRNA Experiments Reference
MIRT032241 hsa-let-7b-5p Proteomics 18668040
MIRT045798 hsa-miR-191-5p CLASH 23622248
MIRT734919 hsa-let-7a-5p Luciferase reporter assayWestern blottingqRT-PCR 33273832
MIRT828036 hsa-miR-1267 CLIP-seq
MIRT828037 hsa-miR-135a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21745818, 25147208
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 21745818, 25468996
GO:0005737 Component Cytoplasm IEA
GO:0006417 Process Regulation of translation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619275 18808 ENSG00000136261
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6E2
Protein name eIF5-mimic protein 1 (Basic leucine zipper and W2 domain-containing protein 2)
Protein function Translation initiation regulator which represses non-AUG initiated translation and repeat-associated non-AUG (RAN) initiated translation by acting as a competitive inhibitor of eukaryotic translation initiation factor 5 (EIF5) function (PubMed:2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02020 W2 338 415 eIF4-gamma/eIF5/eIF2-epsilon Family
Sequence
MNKHQKPVLTGQRFKTRKRDEKEKFEPTVFRDTLVQGLNEAGDDLEAVAKFLDSTGSRLD
YRRYADTLFDILVAGSMLAPGGTRIDDGDKTKMTNHCVFSANEDHETIRNYAQVFNKLIR
RYKYLEKAFEDEMKKLLLFLKAFSETEQTKLAMLSGILLGNGTLPATILTSLFTDSLVKE
GIAASFAVKLFKAWMAEKDANSVTSSLRKANLDKRLLELFPVNRQSVDHFAKYFTDAGLK
ELSDFLRVQQSLGTRKELQKELQERLSQECPIKEVVLYVKEEMKRNDLPETAVIGLLWTC
IMNAVEWNKKEELVAEQALKHLKQYAPLLAVFSSQGQSELILLQKVQEYCYDNIHFMKAF
QKIVVLFYKADVLSEEAILKWYKEAHVAKGKSVFLDQMKKFVEWLQNAEEESESE
GEEN
Sequence length 419
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 38538258
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Associate 38538258
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 37067340
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Associate 35232999
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Associate 36608137
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Inhibit 37067340
★☆☆☆☆
Found in Text Mining only
Neoplasms Stimulate 37067340
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 38154691, 38538258
★☆☆☆☆
Found in Text Mining only
Recurrent respiratory papillomatosis Associate 36473368
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Associate 38538258
★☆☆☆☆
Found in Text Mining only