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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
  • Alliance
    gene page
  • Transcription Start Sites
    52 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:85431341-85527086 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 41.02 cM, cytoband C1-C2
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1446 from dbSNP Build 142
  • Strain Annotations
    15
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97311
 protein coding gene Chr8:85426505-85527086 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033867
 protein coding gene Chr8:85612653-85715430 (-)
A/J MGP_AJ_G0033850
 protein coding gene Chr8:82242337-82343012 (-)
AKR/J MGP_AKRJ_G0033776
 protein coding gene Chr8:84676210-84777978 (-)
BALB/cJ MGP_BALBcJ_G0033843
 protein coding gene Chr8:82364989-82464879 (-)
C3H/HeJ no annotation
C57BL/6NJ MGP_C57BL6NJ_G0034363
 protein coding gene Chr8:88904879-89005216 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031305
 protein coding gene Chr8:76034976-76134778 (-)
CAST/EiJ MGP_CASTEiJ_G0032883
 protein coding gene Chr8:84720865-84823721 (-)
CBA/J MGP_CBAJ_G0033529
 protein coding gene Chr8:91947777-92047227 (-)
DBA/2J MGP_DBA2J_G0033682
 protein coding gene Chr8:81883225-81982574 (-)
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ MGP_NODShiLtJ_G0033672
 protein coding gene Chr8:94492984-94597646 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034380
 protein coding gene Chr8:84666009-84768488 (-)
PWK/PhJ MGP_PWKPhJ_G0032587
 protein coding gene Chr8:81125675-81226934 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032423
 protein coding gene Chr8:83477060-83579043 (-)
WSB/EiJ MGP_WSBEiJ_G0032996
 protein coding gene Chr8:85096789-85197327 (-)



Homology
more
  • Human Ortholog
    NFIX, nuclear factor I X
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NFIX, nuclear factor I X
  • Synonyms
    CTF, MALNS, MRSHSS, NF1A, NF1-X, NF-I/X, SOTOS2
  • Links
    NCBI Gene ID: 4784
    neXtProt AC: NX_Q14938
    UniProt: Q14938

  • Chr Location
    19p13.13; chr19:12995475-13098796 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Nfix mouse models; 2 with human NFIX associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    60 phenotypes from 3 alleles in 4 genetic backgrounds
    72 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.
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
less
  • All GO Annotations
    103
  • GO References
    31
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
    958
  • Tissues
    205
  • cDNA Data
    25
  • Literature Summary
    49
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18032 NCBI Gene Model | MGI Sequence Detail 95746 C57BL/6J ±  kb
    transcript NM_001371053 RefSeq | MGI Sequence Detail 5804 ZRU/MplStud  
    polypeptide P70257 UniProt | EBI | MGI Sequence Detail 488 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000011177 nuclear factor 1 X-type
      (term hierarchy)
    • 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
    • GlyGen
      P70257 3 sites, 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 44
      Genomic 5
      cDNA 26
      Primer pair 11
      Other 2

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-12828
    References
    more
    • Summaries
      All 143
      Developmental Gene Expression 49
      Diseases 2
      Gene Ontology 31
      Phenotypes 72
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:357546 Kooblall KG, et al., Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes. JBMR Plus. 2024 Jul;8(7):ziae060
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory