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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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