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Rfx5 Gene Detail
Summary
  • Symbol
    Rfx5
  • Name
    regulatory factor X, 5 (influences HLA class II expression)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858421
    NCBI Gene: 53970
  • Gene Overview
    MyGene.info: RFX5
Location & Maps
more
  • Sequence Map
    Chr3:94954075-94961561 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7487 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 40.74 cM, cytoband F2
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    RFX5, regulatory factor X5
  • Human Ortholog
    RFX5, regulatory factor X5
    Orthology source: HGNC
  • Links
    NCBI Gene ID: 5993
    neXtProt AC: NX_P48382

  • Chr Location
    1q21; chr1:151340640-151347293 (-)  GRCh38.p2

  • HCOP
    human homology predictions: RFX5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human RFX5 associations

Human Disease Mouse Models
       Bare Lymphocyte Syndrome, Type II   OMIM: 209920
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    1
  • Gene trapped
    7
  • Radiation induced
    1
  • Targeted
    7
  • Genomic Mutations
    2 involving Rfx5
  • Incidental Mutations
Homozygous null mice have absent or decreased expression of MHC-II complexes on antigen presenting cells, which leads to reduced numbers of CD4+ thymocytes and T cells.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019670 VEGA Gene Model | MGI Sequence Detail 7487 C57BL/6J ±  kb
transcript OTTMUST00000055675 VEGA | MGI Sequence Detail 2355 Not Applicable  
polypeptide OTTMUSP00000026691 VEGA | MGI Sequence Detail 658 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    39 from dbSNP Build 142
Protein
Information
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  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000013927 DNA-binding protein RFX5
  • InterPro Domains
    IPR033486 DNA-binding protein RFX5
    IPR003150 DNA-binding RFX-type winged-helix domain
    IPR029298 RFX5, C-terminal
    IPR011991 Winged helix-turn-helix DNA-binding domain
Molecular
Reagents
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  • All nucleic 16
    cDNA 14
    Primer pair 2

    Microarray probesets 3
References
more
  • Summaries
    All 39
    Developmental Gene Expression 7
    Gene Ontology 4
    Phenotypes 13
  • Earliest
    J:67941 Clausen BE, et al., Residual MHC class II expression on mature dendritic cells and activated B cells in RFX5-deficient mice. Immunity. 1998 Feb;8(2):143-55
  • Latest
    J:224219 Ludigs K, et al., NLRC5 exclusively transactivates MHC class I and related genes through a distinctive SXY module. PLoS Genet. 2015 Mar;11(3):e1005088

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory