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    RFX8 regulatory factor X8 [ Homo sapiens (human) ]

    Gene ID: 731220, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RFX8provided by HGNC
    Official Full Name
    regulatory factor X8provided by HGNC
    Primary source
    HGNC:HGNC:37253
    See related
    Ensembl:ENSG00000196460 AllianceGenome:HGNC:37253
    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
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bone marrow (RPKM 1.7), testis (RPKM 0.8) and 12 other tissues See more
    Orthologs
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    Genomic context

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    See RFX8 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (101397359..101475112, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (101856061..101933872, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (102013821..102091574, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373512 Neighboring gene microRNA 5696 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:101946330-101947106 and GRCh37_chr2:101947107-101947883 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:101955361-101956145 Neighboring gene cellular repressor of E1A stimulated genes 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101986959-101987460 Neighboring gene succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:102075751-102076344 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:102080348-102081547 Neighboring gene NANOG hESC enhancer GRCh37_chr2:102083658-102084245 Neighboring gene long intergenic non-protein coding RNA 1870 Neighboring gene ribosomal protein S6 pseudogene 3

    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. Characterization of the human RFX transcription factor family by regulatory and target gene analysis. Sugiaman-Trapman D, et al. BMC Genomics, 2018 Mar 6. PMID 29510665, Free PMC Article
    2. TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. Liu M, et al. Mol Endocrinol, 2013 Apr. PMID 23518928, Free PMC Article
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    4. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    5. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
    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

    • FLJ16242, FLJ42986, FLJ52890

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    DNA-binding protein RFX8
    Names
    RFX family member 8, lacking RFX DNA binding domain
    regulatory factor X, 8

    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_001145664.2 → NP_001139136.2  DNA-binding protein RFX8 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC092570
      Consensus CDS
      CCDS46376.1
      Related
      ENSP00000401536.1, ENST00000428343.6
      Conserved Domains (1) summary
      pfam02257
      Location:1 → 25
      RFX_DNA_binding; RFX DNA-binding domain

    2. NM_001367508.1 → NP_001354437.1  DNA-binding protein RFX8 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092570

    3. NM_001367509.1 → NP_001354438.1  DNA-binding protein RFX8 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092570

    4. NM_001367510.1 → NP_001354439.1  DNA-binding protein RFX8 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092570

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      101397359..101475112 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511771.3 → XP_011510073.1  DNA-binding protein RFX8 isoform X2

    2. XM_047445739.1 → XP_047301695.1  DNA-binding protein RFX8 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y560
      Related
      ENSP00000494216.1, ENST00000646446.1

    3. XM_017004852.2 → XP_016860341.1  DNA-binding protein RFX8 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YED2

    4. XM_017004851.2 → XP_016860340.1  DNA-binding protein RFX8 isoform X1

      UniProtKB/Swiss-Prot
      B4DQ32, Q6ZV50
      Related
      ENSP00000494249.2, ENST00000646893.2
      Conserved Domains (1) summary
      pfam02257
      Location:23 → 95
      RFX_DNA_binding; RFX DNA-binding domain

    5. XM_047445740.1 → XP_047301696.1  DNA-binding protein RFX8 isoform X6

    6. XM_011511773.2 → XP_011510075.1  DNA-binding protein RFX8 isoform X5

    7. XM_047445741.1 → XP_047301697.1  DNA-binding protein RFX8 isoform X8

    8. XM_011511778.2 → XP_011510080.1  DNA-binding protein RFX8 isoform X8

      See identical proteins and their annotated locations for XP_011510080.1

    9. XM_011511777.3 → XP_011510079.1  DNA-binding protein RFX8 isoform X8

      See identical proteins and their annotated locations for XP_011510079.1

    10. XM_017004854.1 → XP_016860343.1  DNA-binding protein RFX8 isoform X7

    11. XM_047445742.1 → XP_047301698.1  DNA-binding protein RFX8 isoform X9

    12. XM_047445743.1 → XP_047301699.1  DNA-binding protein RFX8 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      101856061..101933872 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343740.1 → XP_054199715.1  DNA-binding protein RFX8 isoform X2

    2. XM_054343741.1 → XP_054199716.1  DNA-binding protein RFX8 isoform X3

    3. XM_054343742.1 → XP_054199717.1  DNA-binding protein RFX8 isoform X4

    4. XM_054343739.1 → XP_054199714.1  DNA-binding protein RFX8 isoform X1

    5. XM_054343744.1 → XP_054199719.1  DNA-binding protein RFX8 isoform X6

    6. XM_054343743.1 → XP_054199718.1  DNA-binding protein RFX8 isoform X5

    7. XM_054343746.1 → XP_054199721.1  DNA-binding protein RFX8 isoform X8

    8. XM_054343748.1 → XP_054199723.1  DNA-binding protein RFX8 isoform X8

    9. XM_054343747.1 → XP_054199722.1  DNA-binding protein RFX8 isoform X8

    10. XM_054343745.1 → XP_054199720.1  DNA-binding protein RFX8 isoform X7

    11. XM_054343749.1 → XP_054199724.1  DNA-binding protein RFX8 isoform X9

    12. XM_054343750.1 → XP_054199725.1  DNA-binding protein RFX8 isoform X10

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_207403.1: Suppressed sequence

      Description
      NM_207403.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein is not supported by current protein homology data.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZV50.2 GenPept UniProtKB/Swiss-Prot:Q6ZV50

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