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

Gene ID: 54766, updated on 12-Apr-2023

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
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111383826..111514725, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111393991..111524873, complement)
105.20220307 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 Sharpr-MPRA regulatory region 2637 Neighboring gene POU class 2 homeobox associating factor 1 Neighboring gene RNA, U2 small nuclear 60, pseudogene Neighboring gene uncharacterized LOC100132078 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 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 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,
  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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
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 cellular_component ND
No biological Data available
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

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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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_2023_03

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

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