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Nfix Gene Detail
Summary
  • Symbol
    Nfix
  • Name
    nuclear factor I/X
  • Feature Type
    protein coding gene
  • IDs
    MGI:97311
    NCBI Gene: 18032
  • Gene Overview
    MyGene.info: NFIX
Location & Maps
more
  • Sequence Map
    Chr8:84699876-84800344 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      100469 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 41.02 cM, cytoband C1-C2
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    NFIX, nuclear factor I X
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NFIX, nuclear factor I X
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CTF, MRSHSS, NF1A, NF1-X, NF-I/X, SOTOS2
  • Links
    NCBI Gene ID: 4784
    neXtProt AC: NX_Q14938

  • Chr Location
    19p13.3; chr19:12995756-13098796 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    2 with Nfix mouse models; 2 with human NFIX associations

Human Disease Mouse Models
       Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension   OMIM: 166990 View 1 model
Scheuermann Disease   OMIM: 181440 View 1 model
       Marshall-Smith Syndrome; MRSHSS   OMIM: 602535
Sotos Syndrome 2; SOTOS2   OMIM: 614753
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    44 phenotypes from 3 alleles in 3 genetic backgrounds
    40 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
    18
  • Chemically induced (other)
    1
  • Gene trapped
    11
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Nfix
  • Incidental Mutations
    Mutagenetix , APF
Mice homozygous for a mutation in this gene display postnatal lethality, hydrocephalus, partial agenesis of the corpus callosum, deformation of the spine due to delayed vertebral body ossification, degeneration of intervertebral disks, decreased mineralization and impaired endochondral ossification.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    19
  • 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
    230
  • Tissues
    190
  • cDNA Data
    21
  • Literature Summary
    32
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022188 VEGA Gene Model | MGI Sequence Detail 100469 C57BL/6J ±  kb
transcript OTTMUST00000052707 VEGA | MGI Sequence Detail 5476 Not Applicable  
polypeptide OTTMUSP00000025025 VEGA | MGI Sequence Detail 494 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    547 from dbSNP Build 142
  • RFLP
    1
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000011177 nuclear factor 1 X-type
  • InterPro Domains
    IPR000647 CTF transcription factor/nuclear factor 1
    IPR019739 CTF transcription factor/nuclear factor 1, conserved site
    IPR020604 CTF transcription factor/nuclear factor 1, DNA-binding domain
    IPR019548 CTF transcription factor/nuclear factor 1, N-terminal
    IPR003619 MAD homology 1, Dwarfin-type
Molecular
Reagents
less
  • All nucleic 33
    Genomic 5
    cDNA 22
    Primer pair 5
    Other 1

    Microarray probesets 8
Other
Accession IDs
less
MGD-MRK-12828
References
more
  • Summaries
    All 66
    Developmental Gene Expression 32
    Diseases 1
    Gene Ontology 8
    Phenotypes 40
  • Earliest
    J:19433 Scherthan H, et al., Mapping of the murine nuclear factor I/X gene (Nfix) to mouse chromosome 8 C1-2 by FISH. Genomics. 1994 Jul 1;22(1):247-9
  • Latest
    J:225435 Laclef C, et al., The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor. Hum Mol Genet. 2015 Sep 1;24(17):4997-5014
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