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    RFX7 regulatory factor X7 [ Homo sapiens (human) ]

    Gene ID: 64864, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RFX7provided by HGNC
    Official Full Name
    regulatory factor X7provided by HGNC
    Primary source
    HGNC:HGNC:25777
    See related
    Ensembl:ENSG00000181827 MIM:612660; AllianceGenome:HGNC:25777
    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
    MRD71; RFXDC2
    Summary
    RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]
    Expression
    Ubiquitous expression in testis (RPKM 3.9), lymph node (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RFX7 in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (56087280..56245082, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (53890709..54047935, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (56379478..56537280, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:56332364-56333563 Neighboring gene RNA, 7SL, cytoplasmic 568, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr15:56341781-56341956 Neighboring gene CD24 molecule pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:56431944-56432553 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:56432554-56433162 Neighboring gene uncharacterized LOC124903498 Neighboring gene Sharpr-MPRA regulatory region 1757 Neighboring gene hydroxyacyl-CoA dehydrogenase pseudogene Neighboring gene MPRA-validated peak2347 silencer Neighboring gene laforin-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6462 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:56536049-56536694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:56536695-56537340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:56537341-56537986 Neighboring gene RNA, U6 small nuclear 1287, pseudogene Neighboring gene testis expressed 9 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:56608633-56609184 Neighboring gene high mobility group box 1 pseudogene 33

    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. Transcription factor RFX7 governs a tumor suppressor network in response to p53 and stress. Coronel L, et al. Nucleic Acids Res, 2021 Jul 21. PMID 34197623, Free PMC Article
    2. Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK. Gao J, et al. Biochem Biophys Res Commun, 2020 Feb 26. PMID 31864703
    3. Identification and characterization of novel human tissue-specific RFX transcription factors. Aftab S, et al. BMC Evol Biol, 2008 Aug 1. PMID 18673564, Free PMC Article
    4. The transcription factor Rfx7 limits metabolism of NK cells and promotes their maintenance and immunity. Castro W, et al. Nat Immunol, 2018 Aug. PMID 29967452, Free PMC Article
    5. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. Crowther-Swanepoel D, et al. Nat Genet, 2010 Feb. PMID 20062064, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcription factor RFX7 governs a tumor suppressor network in response to p53 and stress.
      Title: Transcription factor RFX7 governs a tumor suppressor network in response to p53 and stress.
    2. Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK.
      Title: Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK.
    3. RFX7 is a winged helix transcription factor expressed ubiquitously in all tissues examined, especially brain tissue.
      Title: Identification and characterization of novel human tissue-specific RFX transcription factors.
    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
    Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
    MedGen: C5830437 OMIM: 620330 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
    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

    • FLJ12994, FLJ21104, MGC131836

    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
    		  
    enables RNA polymerase II core promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    DNA-binding protein RFX7
    Names
    regulatory factor X domain containing 2
    regulatory factor X domain-containing protein 2
    regulatory factor X, 7

    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_001368073.2 → NP_001355002.1  DNA-binding protein RFX7 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC068726, AC084783, KF456052
      Consensus CDS
      CCDS92003.1
      UniProtKB/TrEMBL
      H0YLX2
      Related
      ENSP00000501278.1, ENST00000673997.1
      Conserved Domains (2) summary
      pfam05109
      Location:161 → 471
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02257
      Location:8 → 84
      RFX_DNA_binding; RFX DNA-binding domain

    2. NM_001368074.1 → NP_001355003.1  DNA-binding protein RFX7 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC084783, KF456052
      Consensus CDS
      CCDS92003.1
      UniProtKB/TrEMBL
      H0YLX2
      Conserved Domains (2) summary
      pfam05109
      Location:161 → 471
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02257
      Location:8 → 84
      RFX_DNA_binding; RFX DNA-binding domain

    3. NM_001370554.1 → NP_001357483.1  DNA-binding protein RFX7 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC084783, KF456052
      Consensus CDS
      CCDS92004.1
      UniProtKB/TrEMBL
      A0AAA9Y9D9, H0YLX2
      Related
      ENSP00000501249.1, ENST00000673948.1
      Conserved Domains (2) summary
      pfam05109
      Location:161 → 471
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02257
      Location:8 → 86
      RFX_DNA_binding; RFX DNA-binding domain

    4. NM_001370561.1 → NP_001357490.1  DNA-binding protein RFX7 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC068726, AC084783, KF456052
      Consensus CDS
      CCDS92005.1
      UniProtKB/Swiss-Prot
      Q2KHR2, Q6ZRR1, Q6ZTY6, Q8N3J0, Q9H7A9, Q9H956
      UniProtKB/TrEMBL
      A0A8C8UYX0, B7ZKX1
      Conserved Domains (2) summary
      pfam05109
      Location:258 → 568
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02257
      Location:105 → 181
      RFX_DNA_binding; RFX DNA-binding domain

    5. NM_022841.7 → NP_073752.6  DNA-binding protein RFX7 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC068726, AC084783, KF456052
      Consensus CDS
      CCDS92005.1
      UniProtKB/Swiss-Prot
      Q2KHR2, Q6ZRR1, Q6ZTY6, Q8N3J0, Q9H7A9, Q9H956
      UniProtKB/TrEMBL
      A0A8C8UYX0, B7ZKX1
      Related
      ENSP00000453281.3, ENST00000559447.8
      Conserved Domains (2) summary
      pfam05109
      Location:258 → 568
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02257
      Location:105 → 181
      RFX_DNA_binding; RFX DNA-binding 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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      56087280..56245082 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432948.1 → XP_047288904.1  DNA-binding protein RFX7 isoform X1

      UniProtKB/Swiss-Prot
      Q2KHR2, Q6ZRR1, Q6ZTY6, Q8N3J0, Q9H7A9, Q9H956
      UniProtKB/TrEMBL
      A0A8C8UYX0

    2. XM_047432949.1 → XP_047288905.1  DNA-binding protein RFX7 isoform X2

    3. XM_047432950.1 → XP_047288906.1  DNA-binding protein RFX7 isoform X2

    4. XM_047432951.1 → XP_047288907.1  DNA-binding protein RFX7 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      53890709..54047935 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378631.1 → XP_054234606.1  DNA-binding protein RFX7 isoform X3

    2. XM_054378632.1 → XP_054234607.1  DNA-binding protein RFX7 isoform X2

    3. XM_054378633.1 → XP_054234608.1  DNA-binding protein RFX7 isoform X2

    4. XM_054378634.1 → XP_054234609.1  DNA-binding protein RFX7 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2KHR2.2 GenPept UniProtKB/Swiss-Prot:Q2KHR2

    Gene LinkOut

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

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