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    BTG4 BTG anti-proliferation factor 4 [ Homo sapiens (human) ]

    Gene ID: 54766, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BTG4provided by HGNC
    Official Full Name
    BTG anti-proliferation factor 4provided by HGNC
    Primary source
    HGNC:HGNC:13862
    See related
    Ensembl:ENSG00000137707 MIM:605673; AllianceGenome:HGNC:13862
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PC3B; APRO3; OOMD8; OZEMA8
    Summary
    The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 4.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See BTG4 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111383826..111514725, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111393991..111524873, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111338251..111385450, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111228402-111229248 Neighboring gene Sharpr-MPRA regulatory region 2637 Neighboring gene POU class 2 homeobox associating factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5510 Neighboring gene RNA, U2 small nuclear 60, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5512 Neighboring gene uncharacterized LOC100132078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111310023-111310609 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:111311446-111312645 Neighboring gene uncharacterized LOC107984386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5516 Neighboring gene uncharacterized LOC644277 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:111380767-111381966 Neighboring gene MIR34B and MIR34C host gene Neighboring gene microRNA 34b Neighboring gene microRNA 34c Neighboring gene HOATZ cilia and flagella associated protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111410548-111411227 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:111424938-111426137 Neighboring gene layilin

    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. A novel homozygous C-terminal deletion in BTG4 causes zygotic cleavage failure and female infertility. Wang Y, et al. J Assist Reprod Genet, 2023 Jan. PMID 36471203, Free PMC Article
    2. A novel homozygous missense variant in BTG4 causes zygotic cleavage failure and female infertility. Liu R, et al. J Assist Reprod Genet, 2021 Dec. PMID 34647228, Free PMC Article
    3. BTG4 is A Novel p53 Target Gene That Inhibits Cell Growth and Induces Apoptosis. Zhang N, et al. Genes (Basel), 2020 Feb 19. PMID 32093041, Free PMC Article
    4. Frequent promoter hypermethylation and transcriptional downregulation of BTG4 gene in gastric cancer. Dong W, et al. Biochem Biophys Res Commun, 2009 Sep 11. PMID 19576178
    5. Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility. Zheng W, et al. Am J Hum Genet, 2020 Jul 2. PMID 32502391, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel homozygous C-terminal deletion in BTG4 causes zygotic cleavage failure and female infertility.
      Title: A novel homozygous C-terminal deletion in BTG4 causes zygotic cleavage failure and female infertility.
    2. A novel homozygous missense variant in BTG4 causes zygotic cleavage failure and female infertility.
      Title: A novel homozygous missense variant in BTG4 causes zygotic cleavage failure and female infertility.
    3. BTG4 is A Novel p53 Target Gene That Inhibits Cell Growth and Induces Apoptosis.
      Title: BTG4 is A Novel p53 Target Gene That Inhibits Cell Growth and Induces Apoptosis.
    4. Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility.
      Title: Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility.
    5. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: A potentially functional polymorphism in the promoter region of miR-34b/c is associated with an increased risk for primary hepatocellular carcinoma.
    6. these data support BTG4 as a candidate tumor suppressor gene that is epigenetically silenced in the majority of gastric cancers.
      Title: Frequent promoter hypermethylation and transcriptional downregulation of BTG4 gene in gastric cancer.
    7. miR-34b/c and BTG4 are novel tumor suppressors in colorectal cancer (CRC) and that the miR-34b/c CpG island, which bidirectionally regulates miR-34b/c and BTG4, is a frequent target of epigenetic silencing in CRC
      Title: Epigenetic silencing of microRNA-34b/c and B-cell translocation gene 4 is associated with CpG island methylation in colorectal cancer.
    8. BTG4 could contribute to chronic lymphocytic leykemia pathogenesis following inactivation by haploinsufficiency.
      Title: Identification of a potential role for POU2AF1 and BTG4 in the deletion of 11q23 in chronic lymphocytic leukemia.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Oocyte maturation defect 8
    MedGen: C5436597 OMIM: 619009 GeneReviews: Not available
    		not available

    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

    Clone Names

    • MGC33003

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in neuron differentiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell cycle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein BTG4
    Names
    B-cell translocation gene 4
    BTG family member 4
    protein PC3b

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001367974.1 → NP_001354903.1  protein BTG4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP002008
      Consensus CDS
      CCDS91586.1
      UniProtKB/TrEMBL
      A0A8I5KVE8

    2. NM_001367975.1 → NP_001354904.1  protein BTG4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP002008
      Consensus CDS
      CCDS91586.1
      UniProtKB/TrEMBL
      A0A8I5KVE8
      Related
      ENSP00000509850.1, ENST00000692032.1

    3. NM_001367976.1 → NP_001354905.1  protein BTG4 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP002008, BC031045
      Consensus CDS
      CCDS91585.1
      Related
      ENSP00000432018.1, ENST00000525791.5

    4. NM_017589.4 → NP_060059.1  protein BTG4 isoform 1

      See identical proteins and their annotated locations for NP_060059.1

      Status: REVIEWED

      Source sequence(s)
      AJ271351, AP002008, BX099301
      Consensus CDS
      CCDS8346.1
      UniProtKB/Swiss-Prot
      Q8NEH7, Q9NY30
      Related
      ENSP00000348300.2, ENST00000356018.6
      Conserved Domains (1) summary
      pfam07742
      Location:1 → 115
      BTG; BTG family

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      111383826..111514725 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542876.3 → XP_011541178.1  protein BTG4 isoform X2

      Conserved Domains (1) summary
      pfam07742
      Location:1 → 115
      BTG; BTG family

    2. XM_024448589.2 → XP_024304357.1  protein BTG4 isoform X1

      Conserved Domains (1) summary
      pfam07742
      Location:1 → 115
      BTG; BTG family

    3. XM_024448591.2 → XP_024304359.1  protein BTG4 isoform X1

      Conserved Domains (1) summary
      pfam07742
      Location:1 → 115
      BTG; BTG family

    4. XM_024448592.2 → XP_024304360.1  protein BTG4 isoform X3

      Conserved Domains (1) summary
      pfam07742
      Location:2 → 81
      BTG; BTG family

    5. XM_024448587.2 → XP_024304355.1  protein BTG4 isoform X1

      Conserved Domains (1) summary
      pfam07742
      Location:1 → 115
      BTG; BTG family

    6. XM_024448588.2 → XP_024304356.1  protein BTG4 isoform X1

      Conserved Domains (1) summary
      pfam07742
      Location:1 → 115
      BTG; BTG family

    7. XM_024448590.2 → XP_024304358.1  protein BTG4 isoform X1

      Conserved Domains (1) summary
      pfam07742
      Location:1 → 115
      BTG; BTG family

    8. XM_011542880.3 → XP_011541182.1  protein BTG4 isoform X5

      Conserved Domains (1) summary
      pfam07742
      Location:1 → 115
      BTG; BTG family

    9. XM_011542879.3 → XP_011541181.1  protein BTG4 isoform X4

      Conserved Domains (1) summary
      pfam07742
      Location:1 → 115
      BTG; BTG family

    RNA

    1. XR_947835.3 RNA Sequence

    2. XR_947834.3 RNA Sequence

    3. XR_947852.3 RNA Sequence

    4. XR_947851.3 RNA Sequence

    5. XR_947849.3 RNA Sequence

    6. XR_007062488.1 RNA Sequence

    7. XR_001747911.3 RNA Sequence

    8. XR_947855.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      111393991..111524873 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369177.1 → XP_054225152.1  protein BTG4 isoform X2

    2. XM_054369174.1 → XP_054225149.1  protein BTG4 isoform X1

    3. XM_054369176.1 → XP_054225151.1  protein BTG4 isoform X1

    4. XM_054369178.1 → XP_054225153.1  protein BTG4 isoform X3

    5. XM_054369172.1 → XP_054225147.1  protein BTG4 isoform X1

    6. XM_054369173.1 → XP_054225148.1  protein BTG4 isoform X1

    7. XM_054369175.1 → XP_054225150.1  protein BTG4 isoform X1

    8. XM_054369180.1 → XP_054225155.1  protein BTG4 isoform X5

    9. XM_054369179.1 → XP_054225154.1  protein BTG4 isoform X4

    RNA

    1. XR_008488408.1 RNA Sequence

    2. XR_008488412.1 RNA Sequence

    3. XR_008488409.1 RNA Sequence

    4. XR_008488406.1 RNA Sequence

    5. XR_008488407.1 RNA Sequence

    6. XR_008488413.1 RNA Sequence

    7. XR_008488411.1 RNA Sequence

    8. XR_008488414.1 RNA Sequence

    9. XR_008488410.1 RNA Sequence

    10. XR_008488416.1 RNA Sequence

    11. XR_008488415.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NY30.1 GenPept UniProtKB/Swiss-Prot:Q9NY30

    Gene LinkOut

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

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