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    BZW2 basic leucine zipper and W2 domains 2 [ Homo sapiens (human) ]

    Gene ID: 28969, updated on 7-Apr-2024

    Summary

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    Official Symbol
    BZW2provided by HGNC
    Official Full Name
    basic leucine zipper and W2 domains 2provided by HGNC
    Primary source
    HGNC:HGNC:18808
    See related
    Ensembl:ENSG00000136261 MIM:619275; AllianceGenome:HGNC:18808
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    5MP1; MST017; HSPC028; MSTP017
    Summary
    Enables cadherin binding activity. Predicted to be involved in cell differentiation and nervous system development. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in heart (RPKM 82.0), placenta (RPKM 43.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BZW2 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (16646181..16706517)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (16775880..16836213)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (16685806..16746142)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ataxin 2 like pseudogene Neighboring gene uncharacterized LOC105375169 Neighboring gene ankyrin repeat and MYND domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25669 Neighboring gene NANOG hESC enhancer GRCh37_chr7:16687980-16688491 Neighboring gene NANOG hESC enhancer GRCh37_chr7:16697377-16697960 Neighboring gene Sharpr-MPRA regulatory region 12164 Neighboring gene tetraspanin 13 Neighboring gene uncharacterized LOC124901593 Neighboring gene anterior gradient 2, protein disulphide isomerase family member

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. BZW2 Inhibition Reduces Colorectal Cancer Growth and Metastasis. Agarwal S, et al. Mol Cancer Res, 2023 Jul 5. PMID 37067340, Free PMC Article
    2. BZW2 promotes the malignant progression of colorectal cancer via activating the ERK/MAPK pathway. Huang L, et al. J Cell Physiol, 2020 May. PMID 31643092
    3. BZW2 gene knockdown induces cell growth inhibition, G1 arrest and apoptosis in muscle-invasive bladder cancers: A microarray pathway analysis. Gao H, et al. J Cell Mol Med, 2019 Jun. PMID 30932331, Free PMC Article
    4. m6A methyltransferase METTL3 facilitates multiple myeloma cell growth through the m6A modification of BZW2. Huang X, et al. Ann Hematol, 2023 Jul. PMID 37222774
    5. miR-140-3p attenuated the tumorigenesis of multiple myeloma via attenuating BZW2. Long X, et al. Hematology, 2022 Dec. PMID 35068373

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Prognostic and Immune Significance of BZW2 in Pan-Cancer and its Relationship with Proliferation and Apoptosis of Cervical Cancer.
      Title: The Prognostic and Immune Significance of BZW2 in Pan-Cancer and its Relationship with Proliferation and Apoptosis of Cervical Cancer.
    2. Interactome Analysis Identifies the Role of BZW2 in Promoting Endoplasmic Reticulum-Mitochondria Contact and Mitochondrial Metabolism.
      Title: Interactome Analysis Identifies the Role of BZW2 in Promoting Endoplasmic Reticulum-Mitochondria Contact and Mitochondrial Metabolism.
    3. BZW2 Inhibition Reduces Colorectal Cancer Growth and Metastasis.
      Title: BZW2 Inhibition Reduces Colorectal Cancer Growth and Metastasis.
    4. m6A methyltransferase METTL3 facilitates multiple myeloma cell growth through the m6A modification of BZW2.
      Title: m6A methyltransferase METTL3 facilitates multiple myeloma cell growth through the m6A modification of BZW2.
    5. miR-140-3p attenuated the tumorigenesis of multiple myeloma via attenuating BZW2.
      Title: miR-140-3p attenuated the tumorigenesis of multiple myeloma via attenuating BZW2.
    6. Human oncoprotein 5MP suppresses general and repeat-associated non-AUG translation via eIF3 by a common mechanism.
      Title: Human oncoprotein 5MP suppresses general and repeat-associated non-AUG translation via eIF3 by a common mechanism.
    7. BZW2 promotes the malignant progression of colorectal cancer via activating the ERK/MAPK pathway.
      Title: BZW2 promotes the malignant progression of colorectal cancer via activating the ERK/MAPK pathway.
    8. BZW2 has an oncogenic role in muscle-invasive bladder cancer and serves as a promising target for molecular diagnosis and gene therapy.
      Title: BZW2 gene knockdown induces cell growth inhibition, G1 arrest and apoptosis in muscle-invasive bladder cancers: A microarray pathway analysis.
    9. 5MP1 is a novel oncogene that reprograms c-Myc translation in CRC. 5MP1 could be a potential therapeutic target to overcome therapeutic resistance conferred by tumor heterogeneity of CRC.
      Title: Novel oncogene 5MP1 reprograms c-Myc translation initiation to drive malignant phenotypes in colorectal cancer.
    10. These data demonstrated that the knockdown of BZW2 suppresses protein phosphorylation in the Akt/mTOR signaling pathway. These observations suggest that BZW2 is upregulated and has a pro-tumor effect in osteosarcoma via activation of the Akt/mTOR signaling pathway and thus is a potential target for gene therapy.
      Title: Downregulation of BZW2 inhibits osteosarcoma cell growth by inactivating the Akt/mTOR signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of translational initiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    eIF5-mimic protein 1
    Names
    basic leucine zipper and W2 domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001159767.2 → NP_001153239.1  eIF5-mimic protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001153239.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 4 encode the same isoform (1).
      Source sequence(s)
      AF083246, BC051898, BC107757
      Consensus CDS
      CCDS5362.1
      UniProtKB/Swiss-Prot
      A4D123, Q3B779, Q96JW5, Q9H3F7, Q9Y6E2
      UniProtKB/TrEMBL
      B3KM68
      Related
      ENSP00000397249.2, ENST00000433922.6
      Conserved Domains (1) summary
      cd11560
      Location:218 → 408
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    2. NM_001362717.2 → NP_001349646.1  eIF5-mimic protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (1).
      Source sequence(s)
      AA429958, BC051898, DA566588
      Consensus CDS
      CCDS5362.1
      UniProtKB/Swiss-Prot
      A4D123, Q3B779, Q96JW5, Q9H3F7, Q9Y6E2
      UniProtKB/TrEMBL
      B3KM68
      Conserved Domains (1) summary
      cd11560
      Location:218 → 408
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    3. NM_001362718.2 → NP_001349647.1  eIF5-mimic protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' coding region compared to variant 1, resulting in the use of a downstream start codon. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 3 and 5 encode the same isoform (2).
      Source sequence(s)
      AF083246, BC051898
      Consensus CDS
      CCDS87482.1
      UniProtKB/TrEMBL
      B5MCE7
      Conserved Domains (1) summary
      cd11560
      Location:24 → 214
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    4. NM_001362719.2 → NP_001349648.1  eIF5-mimic protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an exon in the 5' coding region compared to variant 1, resulting in the use of a downstream start codon. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 3 and 5 encode the same isoform (2).
      Source sequence(s)
      AA429958, BC051898
      Consensus CDS
      CCDS87482.1
      UniProtKB/TrEMBL
      B5MCE7
      Related
      ENSP00000384617.1, ENST00000407633.1
      Conserved Domains (1) summary
      cd11560
      Location:24 → 214
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    5. NM_014038.3 → NP_054757.1  eIF5-mimic protein 1 isoform 1

      See identical proteins and their annotated locations for NP_054757.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (1).
      Source sequence(s)
      AF083246, BC009597
      Consensus CDS
      CCDS5362.1
      UniProtKB/Swiss-Prot
      A4D123, Q3B779, Q96JW5, Q9H3F7, Q9Y6E2
      UniProtKB/TrEMBL
      B3KM68
      Related
      ENSP00000258761.3, ENST00000258761.8
      Conserved Domains (1) summary
      cd11560
      Location:218 → 408
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      16646181..16706517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715707.2 → XP_006715770.1  eIF5-mimic protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006715770.1

      UniProtKB/Swiss-Prot
      A4D123, Q3B779, Q96JW5, Q9H3F7, Q9Y6E2
      UniProtKB/TrEMBL
      B3KM68
      Conserved Domains (1) summary
      cd11560
      Location:218 → 408
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    2. XM_006715708.2 → XP_006715771.1  eIF5-mimic protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006715771.1

      UniProtKB/Swiss-Prot
      A4D123, Q3B779, Q96JW5, Q9H3F7, Q9Y6E2
      UniProtKB/TrEMBL
      B3KM68
      Conserved Domains (1) summary
      cd11560
      Location:218 → 408
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      16775880..16836213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357986.1 → XP_054213961.1  eIF5-mimic protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4D123, Q3B779, Q96JW5, Q9H3F7, Q9Y6E2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6E2.1 GenPept UniProtKB/Swiss-Prot:Q9Y6E2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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