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    RFX7 regulatory factor X7 [ Homo sapiens (human) ]

    Gene ID: 64864, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12994, FLJ21104, MGC131836

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001368073.2NP_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:161471
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02257
      Location:884
      RFX_DNA_binding; RFX DNA-binding domain
    2. NM_001368074.1NP_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:161471
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02257
      Location:884
      RFX_DNA_binding; RFX DNA-binding domain
    3. NM_001370554.1NP_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:161471
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02257
      Location:886
      RFX_DNA_binding; RFX DNA-binding domain
    4. NM_001370561.1NP_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:258568
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02257
      Location:105181
      RFX_DNA_binding; RFX DNA-binding domain
    5. NM_022841.7NP_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:258568
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02257
      Location:105181
      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_047432948.1XP_047288904.1  DNA-binding protein RFX7 isoform X1

      UniProtKB/Swiss-Prot
      Q2KHR2, Q6ZRR1, Q6ZTY6, Q8N3J0, Q9H7A9, Q9H956
      UniProtKB/TrEMBL
      A0A8C8UYX0
    2. XM_047432949.1XP_047288905.1  DNA-binding protein RFX7 isoform X2

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

    4. XM_047432951.1XP_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_054378631.1XP_054234606.1  DNA-binding protein RFX7 isoform X3

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

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

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