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    GMEB2 glucocorticoid modulatory element binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 26205, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GMEB2provided by HGNC
    Official Full Name
    glucocorticoid modulatory element binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:4371
    See related
    Ensembl:ENSG00000101216 MIM:607451; AllianceGenome:HGNC:4371
    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
    PIF79; GMEB-2; P79PIF
    Summary
    This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 6.7), testis (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GMEB2 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63587605..63627101, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65401053..65440974, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62218958..62258454, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18228 Neighboring gene Sharpr-MPRA regulatory region 13995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13164 Neighboring gene fibronectin type III domain containing 11 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18230 Neighboring gene helicase with zinc finger 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18233 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62202570-62202926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62205701-62206428 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62207026-62207211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62213946-62214446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62214447-62214947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61137 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61148 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61158 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61169 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61181 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61184 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18235 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62250681-62251180 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13168 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13169 Neighboring gene melanoma highly expressed competing endogenous lncRNA for miR-425 and miR-489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62269990-62270750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62272271-62273029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62273358-62274096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62275446-62276015 Neighboring gene Sharpr-MPRA regulatory region 12780 Neighboring gene stathmin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62282910-62283480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62284757-62285436

    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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    Related articles in PubMed

    1. Two new members of the emerging KDWK family of combinatorial transcription modulators bind as a heterodimer to flexibly spaced PuCGPy half-sites. Christensen J, et al. Mol Cell Biol, 1999 Nov. PMID 10523663, Free PMC Article
    2. A consensus DNA recognition motif for two KDWK transcription factors identifies flexible-length, CpG-methylation sensitive cognate binding sites in the majority of human promoters. Burnett E, et al. J Mol Biol, 2001 Dec 14. PMID 11743720
    3. Properties of the glucocorticoid modulatory element binding proteins GMEB-1 and -2: potential new modifiers of glucocorticoid receptor transactivation and members of the family of KDWK proteins. Kaul S, et al. Mol Endocrinol, 2000 Jul. PMID 10894151
    4. Ubc9 is a novel modulator of the induction properties of glucocorticoid receptors. Kaul S, et al. J Biol Chem, 2002 Apr 12. PMID 11812797
    5. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. consensus DNA recognition motif for two KDWK transcription factors identifies flexible-length, CpG-methylation sensitive cognate binding sites in the majority of human promoters
      Title: A consensus DNA recognition motif for two KDWK transcription factors identifies flexible-length, CpG-methylation sensitive cognate binding sites in the majority of human promoters.
    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

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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

    Clone Names

    • KIAA1269

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    glucocorticoid modulatory element-binding protein 2
    Names
    DNA-binding protein p79PIF
    PIF p79
    parvovirus initiation factor, p79

    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_012384.5 → NP_036516.1  glucocorticoid modulatory element-binding protein 2

      See identical proteins and their annotated locations for NP_036516.1

      Status: REVIEWED

      Source sequence(s)
      AK298927, AL121907, AL353715, AW612659, BC036305
      Consensus CDS
      CCDS13528.1
      UniProtKB/Swiss-Prot
      E1P5J3, Q5TDS0, Q9H431, Q9H4X7, Q9H4X8, Q9UF78, Q9UKD1, Q9ULF1
      UniProtKB/TrEMBL
      Q5JTV1
      Related
      ENSP00000359094.1, ENST00000370077.2
      Conserved Domains (1) summary
      smart00258
      Location:90 → 163
      SAND; SAND domain

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      63587605..63627101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440106.1 → XP_047296062.1  glucocorticoid modulatory element-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E1P5J3, Q5TDS0, Q9H431, Q9H4X7, Q9H4X8, Q9UF78, Q9UKD1, Q9ULF1

    2. XM_005260202.5 → XP_005260259.1  glucocorticoid modulatory element-binding protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005260259.1

      UniProtKB/Swiss-Prot
      E1P5J3, Q5TDS0, Q9H431, Q9H4X7, Q9H4X8, Q9UF78, Q9UKD1, Q9ULF1
      UniProtKB/TrEMBL
      Q5JTV1
      Conserved Domains (1) summary
      smart00258
      Location:90 → 163
      SAND; SAND domain

    3. XM_047440105.1 → XP_047296061.1  glucocorticoid modulatory element-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E1P5J3, Q5TDS0, Q9H431, Q9H4X7, Q9H4X8, Q9UF78, Q9UKD1, Q9ULF1
      Related
      ENSP00000266068.1, ENST00000266068.5

    4. XM_006723776.3 → XP_006723839.1  glucocorticoid modulatory element-binding protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006723839.1

      UniProtKB/TrEMBL
      Q5JTV1
      Related
      ENSP00000359086.1, ENST00000370069.5
      Conserved Domains (1) summary
      smart00258
      Location:12 → 85
      SAND; SAND domain

    5. XM_011528779.3 → XP_011527081.1  glucocorticoid modulatory element-binding protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011527081.1

      UniProtKB/TrEMBL
      Q5JTV1
      Conserved Domains (1) summary
      smart00258
      Location:12 → 85
      SAND; SAND domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      65401053..65440974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323352.1 → XP_054179327.1  glucocorticoid modulatory element-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E1P5J3, Q5TDS0, Q9H431, Q9H4X7, Q9H4X8, Q9UF78, Q9UKD1, Q9ULF1

    2. XM_054323353.1 → XP_054179328.1  glucocorticoid modulatory element-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E1P5J3, Q5TDS0, Q9H431, Q9H4X7, Q9H4X8, Q9UF78, Q9UKD1, Q9ULF1

    3. XM_054323354.1 → XP_054179329.1  glucocorticoid modulatory element-binding protein 2 isoform X2

    4. XM_054323355.1 → XP_054179330.1  glucocorticoid modulatory element-binding protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKD1.1 GenPept UniProtKB/Swiss-Prot:Q9UKD1

    Gene LinkOut

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

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