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RFX7 regulatory factor X7 [ Homo sapiens (human) ]

Gene ID: 64864, updated on 8-Jul-2019

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
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
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

Genomic context

See RFX7 in Genome Data Viewer
Location:
15q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (56087280..56247654, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (56379479..56535728, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 568, pseudogene Neighboring gene CD24 molecule pseudogene 2 Neighboring gene hydroxyacyl-CoA dehydrogenase pseudogene Neighboring gene RNA, U6 small nuclear 1287, pseudogene Neighboring gene testis expressed 9 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

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12994, FLJ21104, MGC131836

Gene Ontology Provided by GOA

Process Evidence Code Pubs
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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

    Status: VALIDATED

    Source sequence(s)
    AC084783, KF456052
    Related
    ENSP00000453281.2, ENST00000559447.6
  3. NM_001370554.1NP_001357483.1  DNA-binding protein RFX7 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC084783, KF456052
    Related
    ENSP00000453376.2, ENST00000559847.6
  4. NM_001370561.1NP_001357490.1  DNA-binding protein RFX7 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC068726, AC084783, KF456052
  5. NM_022841.7NP_073752.6  DNA-binding protein RFX7 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC068726, AC084783, KF456052

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    56087280..56247654 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022506.1XP_016877995.1  DNA-binding protein RFX7 isoform X1

    Conserved Domains (1) summary
    pfam02257
    Location:105181
    RFX_DNA_binding; RFX DNA-binding domain
  2. XM_017022508.1XP_016877997.1  DNA-binding protein RFX7 isoform X2

    UniProtKB/Swiss-Prot
    Q2KHR2
    Conserved Domains (1) summary
    pfam02257
    Location:884
    RFX_DNA_binding; RFX DNA-binding domain
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