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Rfxap Gene Detail
Summary
  • Symbol
    Rfxap
  • Name
    regulatory factor X-associated protein
  • Synonyms
    5730495K23Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2180854
    NCBI Gene: 170767
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:54710536-54715212 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 25.69 cM, cytoband D
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    286 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2180854
 protein coding gene Chr3:54710536-54715212 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027217
 protein coding gene Chr3:53514012-53518688 (-)
A/J MGP_AJ_G0027177
 protein coding gene Chr3:51861295-51865971 (-)
AKR/J MGP_AKRJ_G0027147
 protein coding gene Chr3:52930263-52934939 (-)
BALB/cJ MGP_BALBcJ_G0027190
 protein coding gene Chr3:51714675-51719351 (-)
C3H/HeJ MGP_C3HHeJ_G0026933
 protein coding gene Chr3:53137153-53141829 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027636
 protein coding gene Chr3:55554666-55559342 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024995
 protein coding gene Chr3:48381787-48386636 (-)
CAST/EiJ MGP_CASTEiJ_G0026385
 protein coding gene Chr3:53275623-53280181 (-)
CBA/J MGP_CBAJ_G0026909
 protein coding gene Chr3:57333703-57338379 (-)
DBA/2J MGP_DBA2J_G0027043
 protein coding gene Chr3:51419035-51423711 (-)
FVB/NJ MGP_FVBNJ_G0027011
 protein coding gene Chr3:50396377-50401053 (-)
LP/J MGP_LPJ_G0027155
 protein coding gene Chr3:54223364-54228129 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027029
 protein coding gene Chr3:61432071-61436747 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027694
 protein coding gene Chr3:52841961-52846637 (-)
PWK/PhJ MGP_PWKPhJ_G0026117
 protein coding gene Chr3:51096228-51100891 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025930
 protein coding gene Chr3:52599742-52603386 (-)
WSB/EiJ MGP_WSBEiJ_G0026459
 protein coding gene Chr3:52975783-52980444 (-)



Homology
more
  • Human Ortholog
    RFXAP, regulatory factor X associated protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RFXAP, regulatory factor X associated protein
  • Synonyms
    MHC2D4
  • Links
    NCBI Gene ID: 5994
    neXtProt AC: NX_O00287
    UniProt: O00287

  • Chr Location
    13q13.3; chr13:36819222-36829104 (+)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    12 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    4
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    806
  • Tissues
    99
  • cDNA Data
    35
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 170767 NCBI Gene Model | MGI Sequence Detail 4677 C57BL/6J ±  kb
    transcript NM_133231 RefSeq | MGI Sequence Detail 2185 C57BL/6  
    polypeptide Q8VCG9 UniProt | EBI | MGI Sequence Detail 231 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000013931 regulatory factor X-associated protein
      (term hierarchy)
    • InterPro Domains
      IPR029316 Regulatory factor X-associated protein, RFXANK-binding domain
      IPR038308 RFXAP, C-terminal domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 35
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2444693
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 4
      Phenotypes 12
    • Earliest
      J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory