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

Gene ID: 28969, updated on 2-Nov-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. Involved in regulation of translational initiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in heart (RPKM 82.0), placenta (RPKM 43.3) and 22 other tissues See more
Orthologs
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (16646181..16706517)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (16775880..16836213)
RS_2024_09 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 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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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)

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_2024_08

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

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