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Rfxank Gene Detail
Summary
  • Symbol
    Rfxank
  • Name
    regulatory factor X-associated ankyrin-containing protein
  • Synonyms
    Tvl1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333865
    NCBI Gene: 19727
  • Gene Overview
    MyGene.info: RFXANK
Location & Maps
more
  • Sequence Map
    Chr8:70130812-70139197 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8386 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 34.15 cM, cytoband C1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    RFXANK, regulatory factor X associated ankyrin containing protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RFXANK, regulatory factor X associated ankyrin containing protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ANKRA1, BLS, F14150_1, RFX-B
  • Links
    NCBI Gene ID: 8625
    neXtProt AC: NX_O14593

  • Chr Location
    19p12; chr19:19192199-19201869 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human RFXANK 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
    8 phenotype references
  • All Mutations and Alleles
    17
  • Chemically induced (other)
    1
  • Gene trapped
    13
  • Targeted
    3
  • Genomic Mutations
    1 involving Rfxank
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000036120 Ensembl Gene Model | MGI Sequence Detail 8386 C57BL/6J ±  kb
transcript ENSMUST00000075724 Ensembl | MGI Sequence Detail 3676 Not Applicable  
polypeptide ENSMUSP00000075140 Ensembl | MGI Sequence Detail 269 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    118 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 18
    cDNA 18

    Microarray probesets 6
References
more
  • Summaries
    All 33
    Developmental Gene Expression 3
    Gene Ontology 5
    Phenotypes 8
  • Earliest
    J:50539 Masternak K, et al., A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet. 1998 Nov;20(3):273-7
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

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
09/20/2016
MGI 6.05
The Jackson Laboratory