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RFX7 regulatory factor X7 [ Homo sapiens (human) ]

Gene ID: 64864, updated on 3-Apr-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
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Genomic context

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Location:
15q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (56087280..56245082, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (53890709..54047935, complement)
105.20220307 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
  • 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. 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
  5. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. Berndt SI, et al. Nat Genet, 2013 Aug. PMID 23770605, Free PMC Article

See all (27) 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 Variation Viewer (GRCh37.p13)

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
part_of 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
    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_2023_10

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

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