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

NFIX Gene

protein-coding   GIFtS: 60
GCID: GC19P013106

Nuclear Factor I/X (CCAAT-Binding Transcription Factor)

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nuclear Factor I/X (CCAAT-Binding Transcription Factor)1 2     NF1A2 5
Nuclear Factor 1/X2 3     MRSHSS2
CTF2 3     SOTOS22
NF-I/X2 3     Nuclear Factor 1 X-Type2
NF1-X2 3     NFI-X3
CCAAT-Box-Binding Transcription Factor2 3     Nuclear Factor I/X3
TGGCA-Binding Protein2 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


(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 Gene:
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)

GeneCards Summary for NFIX Gene: 
NFIX (nuclear factor I/X (CCAAT-binding transcription factor)) is a protein-coding gene. Diseases associated with NFIX include marshall-smith syndrome, and sotos syndrome 2. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NFIC.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for NFIX at MOPED 

Post-translational modifications:

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

  • NFIX Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NFIX Protein Expression
    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  

    Human Recombinant Protein Products for NFIX: 
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    Novus Biologicals NFIX Proteins
    Novus Biologicals NFIX Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NFIX 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--

    NFIX for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR000647 CTF/NFI
     IPR019548 CTF/NFI_DNA-bd_N
     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 domains:
    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


    NFIX for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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 TAS7590749
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity TAS7937100
         
    NFIX for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-outs for NFIX: Nfixtm1.1Rmg Nfixtm1Aes

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NFIX 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NFIX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NFIX 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NFIX 

    miRNA
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    miRTarBase miRNAs that target NFIX:
    hsa-mir-223 (MIRT004316)

    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 plasmidNFIX 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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                         Customized lentivirus expression plasmids for stable overexpression of NFIX 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFIX


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NFIX About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Oxidative Stress
    Oxidative Stress


    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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    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 plasmidNFIX 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NFIX
    Clone
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    OriGene ORF clones in mouse, rat for NFIX
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of NFIX 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NFIX

    Additional mRNA 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 

    17 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.121482605 
    DT.408138 

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

    BU621067 AW084335 BQ016131 AA339131 AW589981 BF732812 AI290381 CA392635 
    R43445 CA946482 BF434142 AI565868 CA423272 AW297519 AW243545 BU732782 
    BG059646 CA396496 BF513588 BF222401 BQ890352 BQ950528 AW472962 CA412198 

    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

    (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)      NFIX embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGACTGCCC
    NFIX Expression
    About this image


    NFIX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Atrioventricular Node Cells Atrioventricular Node
             Fetal cardiomyocytes (20 weeks)
             heart/ventricle   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             umbilical cord reticulocytes   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer

    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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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NFIX
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFIX

    (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 7/14 species (see all 14)    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
    nuclear factor I/X (CCAAT-binding transcription fa...
    81(a)
    1 ↔ 1
    2(78120366-78346988)
    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 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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/1679 SNPs in NFIX are shown (see all 1679)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0687204
    Sotos syndrome 2 (SOTOS2)4--see VAR_0687202 L P mis40--------
    VAR_0687214
    Sotos syndrome 2 (SOTOS2)4--see VAR_0687212 R P mis40--------
    rs1907733341,2
    --13042006(+) TACAAA/GTGTGT 1 -- us2k10--------
    rs597075761,2
    C,F--13042026(+) GGCACG/ATAAGG 1 -- us2k14Minor allele frequency- A:0.14WA CSA NA 242
    rs1469780341,2
    --13042062(+) TGTGTG/TCATGG 1 -- us2k10--------
    rs779581131,2
    C,F--13042136(+) CCTGTG/AGGTAC 1 -- us2k11Minor allele frequency- A:0.11WA 118
    rs1153038591,2
    F--13042177(+) GTGTGT/CCTGTG 1 -- us2k11Minor allele frequency- C:0.11WA 118
    rs1822083341,2
    --13042192(+) GTGTTA/GTGACA 1 -- us2k10--------
    rs1384278801,2
    --13042360(+) TTGCTC/GTGTCA 1 -- us2k10--------
    rs621098781,2
    C,F--13042362(+) GCTCTC/GTCACC 1 -- us2k14Minor allele frequency- G:0.25NA WA CSA 8

    HapMap Linkage Disequilibrium report for NFIX (13106422 - 13209610 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for NFIX (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2422CNV Insertion18451855
    nsv911082CNV Loss21882294
    nsv911087CNV Loss21882294
    nsv911086CNV Loss21882294
    nsv833754CNV Loss17160897
    nsv828444CNV Loss20364138
    dgv3736n71CNV Loss21882294
    nsv911085CNV Loss21882294
    dgv3735n71CNV Loss21882294
    nsv828446CNV Loss20364138


    Human Gene Mutation Database (HGMD): NFIX
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NFIX
    DNA2.0 Custom Variant and Variant Library Synthesis for NFIX

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 164005    OMIM disorders: --

    UniProtKB/Swiss-Prot: NFIX_HUMAN, Q14938
  • Sotos syndrome 2 (SOTOS2) [MIM:614753]: A form of Sotos syndrome, a childhood overgrowth syndrome
    characterized by prenatal 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 16 diseases for NFIX:    About MalaCards
    marshall-smith syndrome    sotos syndrome 2    common wart    progressive multifocal leukoencephalopathy
    sotos syndrome    neurofibroma    maturity-onset diabetes of the young    fainting
    scoliosis    neurofibromatosis    bipolar disorder    astrocytoma
    mental retardation    cerebritis    thyroiditis    breast cancer

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

    NFIX for disorders           About GeneDecksing


    Export disorders for NFIX gene to outside databases

    (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 32):
    (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. A genome-wide association study of seasonal pattern ma nia identifies NF1A as a possible susceptibility gene for bipolar disorder. (PubMed id 22925353)1 Lee H.J....Kelsoe J.R. (2013)
    10. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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