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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NFIX Gene

protein-coding   GIFtS: 56
GCID: GC19P013106

nuclear factor I/X (CCAAT-binding transcription factor)
 Explore 11 diseases affiliated with
NFIX via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NFIX    

Aliases
for NFIX gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nuclear Factor I/X (CCAAT-Binding Transcription Factor)1 2     TGGCA-Binding Protein2 3
NF1A1 2 5     MRSHSS2
Nuclear Factor 1/X2 3     SOTOS22
CTF2 3     Nuclear Factor 1 X-Type2
NF-I/X2 3     NFI-X3
NF1-X2 3     Nuclear Factor I/X3
CCAAT-Box-Binding Transcription Factor2 3     

External Ids:    HGNC: 77881   Entrez Gene: 47842   Ensembl: ENSG000000084417   OMIM: 1640055   UniProtKB: Q149383   

Export aliases for NFIX gene to outside databases

Previous GC identifers: GC19P013468 GC19P012951 GC19P012967 GC19P012996 GC19P012710


Summaries
for NFIX gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NFIX:
The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in
viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Aug 2012)

UniProtKB/Swiss-Prot: NFIX_HUMAN, Q14938
Function: Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters
and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating
transcription and replication

Gene Wiki entry for NFIX


Genomic Views
for NFIX gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFIX gene promoter:
         c-Fos   Pbx1a   AP-1   ATF-2   Meis-1b   E47   c-Jun   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NFIX promoter sequence
   Search SABiosciences Chromatin IP Primers for NFIX

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFIX


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.3

NFIX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFIX gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P013106:  view genomic region     (about GC identifiers)

Start:
 13,106,422 bp from pter      End:
 13,209,610 bp from pter
Size:
 103,189 bases      Orientation:
 plus strand

Proteins
for NFIX gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NFIX_HUMAN, Q14938 (See protein sequence)
Recommended Name: Nuclear factor 1 X-type  
Size: 502 amino acids; 55098 Da
Subunit: Binds DNA as a homodimer
Subcellular location: Nucleus
Developmental stage: Prominent expression is observed in the central and peripheral nervous system in the embryo at
Carnagie stage 17 (CS17; gestational day 42); at this stage it is also observed in the mandibular arch, cartilage
primordium of the humerus, scapula, and vertebrae; in the limb expression is detected in the perichondrium. Expressed
in the cerebral cortex, hippocampus, and faintly in the thalamus in fetal brain at 22 weeks of gestation,
Secondary accessions: O60413 Q0VG09 Q12859 Q13050 Q13052 Q5U094 Q9UPH1 Q9Y6R8
Alternative splicing: 5 isoforms:  Q14938-1   Q14938-2   Q14938-3   Q14938-4   Q14938-5   

Explore the universe of human proteins at neXtProt for NFIX: NX_Q14938

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14938

    • NFIX Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001257972.1  NP_001257973.1  NP_002492.2  

    ENSEMBL proteins: 
     ENSP00000380781   ENSP00000467512   ENSP00000465616   ENSP00000466605   ENSP00000466389  
     ENSP00000468794   ENSP00000353219   ENSP00000466735   ENSP00000467536   ENSP00000465094  
     ENSP00000468707   ENSP00000467785   ENSP00000351354  

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    Novus Biologicals NFIX Proteins
    Novus Biologicals NFIX Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NFIX

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    NFIX for ontologies           About GeneDecksing



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    Uscn Antibodies for NFIX
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    Uscn ELISAs and CLIAs for NFIX

    Protein Domains /
    Families
    for NFIX gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NFIX for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR019548 CTF/NFI_DNA-bd_N
     IPR000647 CTF/NFI
     IPR019739 CTF/NFI_DNA-bd_CS
     IPR003619 MAD_homology1_Dwarfin-type
     IPR020604 CTF/NFI_DNA-bd-dom

    Graphical View of Domain Structure for InterPro Entry Q14938

    ProtoNet protein and cluster: Q14938

    2 Blocks protein families:
    IPB000647 CTF/NF-I family
    IPB009044 ssDNA-binding transcriptional regulator


    UniProtKB/Swiss-Prot: NFIX_HUMAN, Q14938
    Similarity: Belongs to the CTF/NF-I family
    Similarity: Contains 1 CTF/NF-I DNA-binding domain


    Function
    for NFIX gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NFIX_HUMAN, Q14938
    Function: Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters
    and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating
    transcription and replication

         Genatlas biochemistry entry for NFIX:
    nuclear transcription factor I X,DNA binding protein

    miRNA
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    hsa-mir-223 (MIRT004316)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NFIX
    8/137 QIAGEN miScript miRNA Assays for microRNAs that regulate NFIX (see all 137):
    hsa-miR-1321 hsa-miR-361-5p hsa-miR-1224-3p hsa-miR-146a hsa-miR-1260b hsa-miR-3653 hsa-miR-3916 hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmid: NFIX 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NFIX (see all 7)
    OriGene shRNA RFP: NFIX
    OriGene siRNA: NFIX
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NFIX

    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for NFIX

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS8340106
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity TAS7937100


    NFIX for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for NFIX: Nfixtm1.1Rmg Nfixtm1Aes
         10 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Nfix):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size  hearing/vestibular/ear 
     mortality/aging  nervous system  normal  skeleton  vision/eye 

    NFIX for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NFIX gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Oxidative Stress
    		Oxidative Stress1.00


    1 BioSystems Pathway for NFIX 
        Oxidative Stress


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NFIX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/31 Interacting proteins for NFIX (Q149383 ENSP000003532194) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFIBO007123, ENSP000003703464I2D: score=3 STRING: ENSP00000370346
    SKIP127553, ENSP000003677974I2D: score=2 STRING: ENSP00000367797
    PIRO006253, ENSP000003697854I2D: score=2 STRING: ENSP00000369785
    RFX1P226703, ENSP000002543254I2D: score=2 STRING: ENSP00000254325
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA19706729
    GO:0006260DNA replication IEA--
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS7937100


    NFIX for ontologies           About GeneDecksing



    Drugs & Compounds
    for NFIX gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NFIX
    Search CenterWatch for drugs/clinical trials and news about NFIX 

    Transcripts
    for NFIX gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NFIX gene (3 alternative transcripts): 
    NM_001271043.1  NM_001271044.1  NM_002501.2  

    Unigene Cluster for NFIX:

    Nuclear factor I/X (CCAAT-binding transcription factor)
    Hs.257970  [show with all ESTs]
    Unigene Representative Sequence: NM_001271043
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397661(uc010xmx.2) ENST00000592199 ENST00000590027 ENST00000585382
    ENST00000587760 ENST00000585575 ENST00000360105(uc002mwd.3 uc002mwe.3 uc002mwg.2)
    ENST00000588228 ENST00000586797 ENST00000591028 ENST00000586873 ENST00000587260
    ENST00000588680 ENST00000358552(uc002mwf.3)

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NFIX
    8/137 QIAGEN miScript miRNA Assays for microRNAs that regulate NFIX (see all 137):
    hsa-miR-1321 hsa-miR-361-5p hsa-miR-1224-3p hsa-miR-146a hsa-miR-1260b hsa-miR-3653 hsa-miR-3916 hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmid: NFIX 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NFIX (see all 7)
    OriGene shRNA RFP: NFIX
    OriGene siRNA: NFIX
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NFIX
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NFIX
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: NFIX (NM_002501)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NFIX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFIX 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NFIX
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NFIX
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NFIX

    Additional cDNA sequence: 

    AK295290.1 AK297261.1 BC036885.1 BC117113.1 BC117115.1 BT019732.1 BX537794.1 FJ861276.1 
    U07811.1 U18759.1 U18760.1 U18761.1 

    16 DOTS entries:

    DT.446358  DT.121482598  DT.95078789  DT.95360462  DT.95264394  DT.86852156  DT.91773831  DT.75150871 
    DT.91649401  DT.121482542  DT.121482608  DT.65288654  DT.91773815  DT.97834620  DT.97841116  DT.408138 

    24/264 AceView cDNA sequences (see all 264):

    BU732782 BQ016131 AW243545 AI565868 BF115883 AW472962 AI859152 CA396496 
    BP350178 AI817437 T28801 AA339131 BU621067 BP362333 BF058855 BU608825 
    CA412198 AW084335 R42204 BQ884047 BQ073671 BQ890352 AI290381 AI083844 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NFIX    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c
    SP1:        -                                                           -                           
    SP2:                                                                                                
    SP3:                                                        -           -                           
    SP4:                          -                                                                     


    ECgene alternative splicing isoforms for NFIX

    Expression
    for NFIX gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NFIX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGACTGCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NFIX expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerAII Amacrine CellsAmacrine, Retina
    EyeInner Nuclear LayernGnG Amacrine CellsAmacrine, Retina
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage

    See NFIX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NFIX

    SOURCE GeneReport for Unigene cluster: Hs.257970

    UniProtKB/Swiss-Prot: NFIX_HUMAN, Q14938
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for NFIX
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFIX

    Orthologs
    for NFIX gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for NFIX gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Nfix1 , 5 nuclear factor I/X1, 5 94.78(n)1
    99.76(a)1    		   8 (41.02 cM)5
    180321  NM_001081981.11  NP_001075450.11 
     846998765 
    chicken
    (Gallus gallus)    		 Aves NFIX1 nuclear factor I/X (CCAAT-binding transcription factor) 79.15(n)
    84.88(a)    		   396207  NM_205270.1  NP_990601.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NFIX6
    		 --
    		 81(a)
    		 1 ↔ 1
    		 2(78189285-78332760)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.10962 X.laevis mRNA for NFI-X2 transcription factor 81.53(n)    Z34463.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.126422 Transcribed sequence with strong similarity to protein more 85.37(n)    BI472837.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG23803 transcription factor 46(a)   102B3   --
    worm
    (Caenorhabditis elegans)    		 Secernentea nfi-13 Nuclear factor 1 53(a)   II(7534429-7542464)   --


    ENSEMBL Gene Tree for NFIX (if available)
    TreeFam Gene Tree for NFIX (if available) 

    Paralogs
    for NFIX gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NFIX gene
    NFIC2  NFIB2  NFIA2  
    6 SIMAP similar genes for NFIX using alignment to 8 protein entries:     NFIX_HUMAN (see all proteins):
    NFI    DKFZp686I05275    NFIA    NFIB    NFIC    DKFZp686E13259

    NFIX for paralogs           About GeneDecksing



    Genomic Variants
    for NFIX gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1327 NCBI SNPs in NFIX are shown (see all 1327)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1139483471,2
    		C,--13104859(+) CCAAAGT/-AGTGT 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1907733341,2
    		--13104977(+) TACAAA/GTGTGT 1 -- us2k10--------
    rs577645151,2
    		C,--13104984(+) GGGGG-/GCACGT 1 -- us2k10--------
    rs597075761,2
    		C,F,--13104997(+) GGCACG/ATAAGG 1 -- us2k14Minor allele frequency- A:0.14WA CSA NA 242
    rs1469780341,2
    		--13105033(+) TGTGTG/TCATGG 1 -- us2k10--------
    rs779581131,2
    		C,F,--13105107(+) CCTGTG/AGGTAC 1 -- us2k11Minor allele frequency- A:0.11WA 118
    rs1393181801,2
    		C,--13105126(+) ACCCA-/GTGTGTG 1 -- us2k10--------
    rs742791241,2
    		C--13105148(+) TGTGT-/GTCTGTG 1 -- us2k10--------
    rs1153038591,2
    		F,--13105148(+) GTGTGT/CCTGTG 1 -- us2k11Minor allele frequency- C:0.11WA 118
    rs1822083341,2
    		--13105163(+) GTGTTA/GTGACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NFIX (13106422 - 13209610 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NFIX: --
    Human Gene Mutation Database (HGMD): NFIX

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NFIX
    DNA2.0 Custom Variant and Variant Library Synthesis for NFIX

    Disorders / Diseases
    for NFIX gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NFIX for disorders           About GeneDecksing

    OMIM gene information: 164005    OMIM disorders: --

    UniProtKB/Swiss-Prot: NFIX_HUMAN, Q14938
  • Defects in NFIX are the cause of Sotos syndrome 2 (SOTOS2) [MIM:614753]. A form of Sotos syndrome, a childhood
    • overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced
    bone age, and abnormal craniofacial morphology. SOTOS2 patients have macrocephaly, long narrow face, high forehead,
    slender habitus, scoliosis, and unusual behavior characterized especially by anxiety
  • Defects in NFIX are the cause of Marshall-Smith syndrome (MRSHSS) [MIM:602535]. A distinct malformation
    • syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties,
    mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal
    bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges
    with relatively narrow distal phalanges, and scoliosis

    11 diseases for NFIX:    About MalaCards
    marshall-smith syndrome    progressive multifocal leukoencephalopathy    maturity-onset diabetes of the young    common wart
    bipolar disorder    neurofibromatosis    pharyngitis    astrocytoma
    breast cancer    thyroiditis    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for NFIX:
    Neurofibroma     Neurofibromatosis     maturity-onset diabetes of the young     Common wart

    Export disorders for NFIX gene to outside databases

    Publications
    for NFIX gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NFIX gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with NFIX)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH. (PubMed id 7590749)1, 2, 3 Qian F....Sippel A.E. (1995)
    2. Cloning and functional analysis of spliced isoforms of human nuclear factor I-X: interference with transcriptional activation by NFI/CTF in a cell-type specific manner. (PubMed id 7937100)1, 2, 9 Apt D.... Bernard H.U. (1994)
    3. Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome 19p13 and detection of five other related loci at 1p21-22, 1q42-43, 5q15, 11p13 and 20q13 by FISH. (PubMed id 8340106)1, 3, 9 Seisenberger C....Scherthan H. (1993)
    4. Missense mutations in the DNA-binding/dimerization dom ain of NFIX cause Sotos-like features. (PubMed id 22301465)1, 2 Yoneda Y....Matsumoto N. (2012)
    5. Distinct effects of allelic NFIX mutations on nonsens e-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome . (PubMed id 20673863)1, 2 Malan V....Cormier-Daire V. (2010)
    6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    7. Expression of multiple classes of the nuclear factor-1 family in the developing human brain: differential expression of two classes of NF-1 genes. (PubMed id 8799200)1, 2 Sumner C.... Amemiya K. (1996)
    8. Nuclear factor-1-X regulates astrocyte-specific expression of the alpha1-antichymotrypsin and glial fibrillary acidic protein genes. (PubMed id 16565071)1, 9 Gopalan S.M....Kordula T. (2006)
    9. DNA methylation shows genome-wide association of NFIX, RAPGEF2 and MSRB3 with gestational age at birth. (PubMed id 22422452)1 Lee H....Fallin M.D. (2012)
    10. A complex of nuclear factor I-X3 and STAT3 regulates astrocyte and glioma migration through the secreted glycoprotein YKL-40. (PubMed id 21953450)1 Singh S.K....Kordula T. (2011)

    External Searches for NFIX gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing NFIX gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4784 HGNC: 7788 AceView: NFIX Ensembl:ENSG00000008441 euGenes: HUgn4784
    ECgene: NFIX H-InvDB: NFIX

    Other Databases showing NFIX gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NFIX gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NFIX Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NFIX gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NFIX gene:
    Search GeneIP for patents involving NFIX

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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