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Rfx4 Gene Detail
Summary
  • Symbol
    Rfx4
  • Name
    regulatory factor X, 4 (influences HLA class II expression)
  • Synonyms
    4933412G19Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918387
    NCBI Gene: 71137
  • Gene Overview
    MyGene.info: RFX4
Location & Maps
more
  • Sequence Map
    Chr10:84756062-84906538 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      150477 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 41.63 cM, cytoband C1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    RFX4, regulatory factor X4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RFX4, regulatory factor X4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NYD-SP10
  • Links
    NCBI Gene ID: 5992
    neXtProt AC: NX_Q33E94

  • Chr Location
    12q24; chr12:106582907-106762804 (+)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 31119
    1 human;1 mouse;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: RFX4
  • Gene Tree
    Rfx4
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 2 alleles in 3 genetic backgrounds
    17 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
    25
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    19
  • Targeted
    3
  • Transgenic
    1
  • Genomic Mutations
    1 involving Rfx4
  • Incidental Mutations
    Mutagenetix , APF , CvDC
Inactivating null allele or homozygous point mutation alleles exhibit missing dorsal midline structure of the cortex including the subcommissural organ and neonatal lethality. Heterozygous null mice have congenital hydrocephalus.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    24
  • GO References
    8
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
less
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
    262
  • Tissues
    107
  • cDNA Data
    31
  • Literature Summary
    14
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037132 VEGA Gene Model | MGI Sequence Detail 150477 C57BL/6J ±  kb
transcript OTTMUST00000095604 VEGA | MGI Sequence Detail 3534 Not Applicable  
polypeptide OTTMUSP00000053351 VEGA | MGI Sequence Detail 735 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    761 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000013926 transcription factor RFX4
  • InterPro Domains
    IPR003150 DNA-binding RFX-type winged-helix domain
    IPR011991 Winged helix-turn-helix DNA-binding domain
Molecular
Reagents
less
  • All nucleic 39
    cDNA 32
    Primer pair 7

    Microarray probesets 3
References
more
  • Summaries
    All 47
    Developmental Gene Expression 14
    Gene Ontology 8
    Phenotypes 17
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:209144 Bae BI, et al., Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science. 2014 Feb 14;343(6172):764-8
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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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory