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    GABPB2 GA binding protein transcription factor subunit beta 2 [ Homo sapiens (human) ]

    Gene ID: 126626, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GABPB2provided by HGNC
    Official Full Name
    GA binding protein transcription factor subunit beta 2provided by HGNC
    Primary source
    HGNC:HGNC:28441
    See related
    Ensembl:ENSG00000143458 AllianceGenome:HGNC:28441
    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
    GABPB-2
    Summary
    Enables transcription cis-regulatory region binding activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Annotation information
    Note: In August, 2008, the nomenclature of the GA binding protein transcription factors was clarified. The gene on Hsa1q was named GABPB2 and the gene on Hsa15q was named GABPB1. [24 Sep 2008]
    Expression
    Ubiquitous expression in testis (RPKM 4.7), ovary (RPKM 3.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151070761..151125542)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150194444..150249243)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151043237..151098018)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 56 Neighboring gene CDC42 small effector 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1310 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:151032419-151033010 Neighboring gene MLLT11 transcription factor 7 cofactor Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151042752-151043686 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151043687-151044621 Neighboring gene ribosomal protein S29 pseudogene 29 Neighboring gene uncharacterized LOC124904418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151104130-151104914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1313 Neighboring gene semaphorin 6C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1314

    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. YEAF1/RYBP and YAF-2 are functionally distinct members of a cofactor family for the YY1 and E4TF1/hGABP transcription factors. Sawa C, et al. J Biol Chem, 2002 Jun 21. PMID 11953439
    2. Transcriptional up-regulation of the delayed early gene HRS/SRp40 during liver regeneration. Interactions among YY1, GA-binding proteins, and mitogenic signals. Du K, et al. J Biol Chem, 1998 Dec 25. PMID 9857059
    3. Molecular and genetic characterization of GABP beta. de la Brousse FC, et al. Genes Dev, 1994 Aug 1. PMID 7958862
    4. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article
    5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. Flachsbart F, et al. Mutat Res, 2010 Dec 10. PMID 20800603

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    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

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of GA binding protein transcription factor, beta subunit 2 (GABPB2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC29891

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    GA-binding protein subunit beta-2
    Names
    GA binding protein transcription factor beta subunit 2
    GABP subunit beta-2
    NP_001310835.1
    NP_001310836.1
    NP_001310837.1
    NP_001310838.1
    NP_001310839.1
    NP_001310840.1
    NP_001310841.1
    NP_001310842.1
    NP_653219.1

    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_001323906.2 → NP_001310835.1  GA-binding protein subunit beta-2 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL590133, AL592424, AL691467
      UniProtKB/TrEMBL
      B2R924

    2. NM_001323907.2 → NP_001310836.1  GA-binding protein subunit beta-2 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL590133, AL592424, AL691467

    3. NM_001323908.2 → NP_001310837.1  GA-binding protein subunit beta-2 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL590133, AL592424, AL691467
      Consensus CDS
      CCDS983.1
      UniProtKB/Swiss-Prot
      B1AVJ8, D3DV14, Q8NAR5, Q8TAK5
      UniProtKB/TrEMBL
      B2R924
      Conserved Domains (2) summary
      cd00204
      Location:34 → 156
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]

    4. NM_001323909.2 → NP_001310838.1  GA-binding protein subunit beta-2 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL590133, AL592424, AL691467
      Consensus CDS
      CCDS81373.1
      UniProtKB/TrEMBL
      B2R924, Q5SZG2
      Related
      ENSP00000357912.1, ENST00000368916.1
      Conserved Domains (4) summary
      cd00204
      Location:34 → 156
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:42 → 132
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]

    5. NM_001323910.2 → NP_001310839.1  GA-binding protein subunit beta-2 isoform h

      Status: VALIDATED

      Source sequence(s)
      AL590133, AL592424, AL691467
      UniProtKB/TrEMBL
      B2R924
      Conserved Domains (5) summary
      cd00204
      Location:54 → 172
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:58 → 148
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:10 → 74
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:54 → 84
      ANK; ANK repeat [structural motif]
      cl03075
      Location:349 → 406
      GrpE; nucleotide exchange factor GrpE

    6. NM_001323911.2 → NP_001310840.1  GA-binding protein subunit beta-2 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL590133, AL592424, AL691467
      UniProtKB/TrEMBL
      B2R924

    7. NM_001323912.2 → NP_001310841.1  GA-binding protein subunit beta-2 isoform f

      Status: VALIDATED

      Source sequence(s)
      AL590133, AL592424, AL691467

    8. NM_001323913.2 → NP_001310842.1  GA-binding protein subunit beta-2 isoform g

      Status: VALIDATED

      Source sequence(s)
      AL590133, AL592424, AL691467

    9. NM_144618.3 → NP_653219.1  GA-binding protein subunit beta-2 isoform a

      See identical proteins and their annotated locations for NP_653219.1

      Status: VALIDATED

      Source sequence(s)
      AL592424, BC027033
      Consensus CDS
      CCDS983.1
      UniProtKB/Swiss-Prot
      B1AVJ8, D3DV14, Q8NAR5, Q8TAK5
      UniProtKB/TrEMBL
      B2R924
      Related
      ENSP00000357914.3, ENST00000368918.8
      Conserved Domains (2) summary
      cd00204
      Location:34 → 156
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151070761..151125542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150194444..150249243
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAK5.1 GenPept UniProtKB/Swiss-Prot:Q8TAK5

    Gene LinkOut

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

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