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RFX7 regulatory factor X7 [ Homo sapiens (human) ]

Gene ID: 64864, updated on 31-Jan-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
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Genomic context

See RFX7 in Genome Data Viewer
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

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
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

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_001368073.2NP_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
    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_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_047432948.1XP_047288904.1  DNA-binding protein RFX7 isoform X1

    UniProtKB/Swiss-Prot
    Q2KHR2, Q6ZRR1, Q6ZTY6, Q8N3J0, Q9H7A9, Q9H956
    UniProtKB/TrEMBL
    A0A8C8UYX0, B7ZKX1
  2. XM_047432949.1XP_047288905.1  DNA-binding protein RFX7 isoform X2

    UniProtKB/TrEMBL
    H0YLX2
  3. XM_047432950.1XP_047288906.1  DNA-binding protein RFX7 isoform X2

    UniProtKB/TrEMBL
    H0YLX2
  4. XM_047432951.1XP_047288907.1  DNA-binding protein RFX7 isoform X2

    UniProtKB/TrEMBL
    H0YLX2

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

    UniProtKB/TrEMBL
    B7ZKX1
  2. XM_054378632.1XP_054234607.1  DNA-binding protein RFX7 isoform X2

    UniProtKB/TrEMBL
    H0YLX2
  3. XM_054378633.1XP_054234608.1  DNA-binding protein RFX7 isoform X2

    UniProtKB/TrEMBL
    H0YLX2
  4. XM_054378634.1XP_054234609.1  DNA-binding protein RFX7 isoform X2

    UniProtKB/TrEMBL
    H0YLX2