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Aliases for NFIX Gene

Aliases for NFIX Gene

  • Nuclear Factor I X 2 3
  • Nuclear Factor I/X (CCAAT-Binding Transcription Factor) 2 3 5
  • CCAAT-Box-Binding Transcription Factor 3 4
  • CCAAT-Binding Transcription Factor 2 3
  • TGGCA-Binding Protein 3 4
  • Nuclear Factor 1/X 3 4
  • NF-I/X 3 4
  • NF1-X 3 4
  • CTF 3 4
  • Nuclear Factor I/X 4
  • MRSHSS 3
  • SOTOS2 3
  • NFI-X 4
  • NF1A 3

External Ids for NFIX Gene

Previous GeneCards Identifiers for NFIX Gene

  • GC19P013468
  • GC19P012951
  • GC19P012967
  • GC19P013106
  • GC19P012710

Summaries for NFIX Gene

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) is a Protein Coding gene. Diseases associated with NFIX include marshall-smith syndrome and sotos syndrome 2. Among its related pathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is NFIA.

UniProtKB/Swiss-Prot for NFIX Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFIX Gene

Genomics for NFIX Gene

Regulatory Elements for NFIX Gene

Promoters for NFIX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NFIX on UCSC Golden Path with GeneCards custom track

Genomic Location for NFIX Gene

Chromosome:
19
Start:
12,995,608 bp from pter
End:
13,098,796 bp from pter
Size:
103,189 bases
Orientation:
Plus strand

Genomic View for NFIX Gene

Genes around NFIX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFIX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFIX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFIX Gene

Proteins for NFIX Gene

  • Protein details for NFIX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14938-NFIX_HUMAN
    Recommended name:
    Nuclear factor 1 X-type
    Protein Accession:
    Q14938
    Secondary Accessions:
    • B4DM25
    • O60413
    • Q0VG09
    • Q12859
    • Q13050
    • Q13052
    • Q5U094
    • Q9UPH1
    • Q9Y6R8

    Protein attributes for NFIX Gene

    Size:
    502 amino acids
    Molecular mass:
    55098 Da
    Quaternary structure:
    • Binds DNA as a homodimer.

    Alternative splice isoforms for NFIX Gene

neXtProt entry for NFIX Gene

Proteomics data for NFIX Gene at MOPED

Post-translational modifications for NFIX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NFIX Gene

Domains & Families for NFIX Gene

Suggested Antigen Peptide Sequences for NFIX Gene

Graphical View of Domain Structure for InterPro Entry

Q14938

UniProtKB/Swiss-Prot:

NFIX_HUMAN :
  • Contains 1 CTF/NF-I DNA-binding domain.
  • Belongs to the CTF/NF-I family.
Domain:
  • Contains 1 CTF/NF-I DNA-binding domain.
Family:
  • Belongs to the CTF/NF-I family.
genes like me logo Genes that share domains with NFIX: view

No data available for Gene Families for NFIX Gene

Function for NFIX Gene

Molecular function for NFIX Gene

GENATLAS Biochemistry:
nuclear transcription factor I X,DNA binding protein
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for NFIX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with NFIX: view
genes like me logo Genes that share phenotypes with NFIX: view

Human Phenotype Ontology for NFIX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NFIX Gene

MGI Knock Outs for NFIX:

Animal Model Products

miRNA for NFIX Gene

miRTarBase miRNAs that target NFIX

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NFIX Gene

Localization for NFIX Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFIX Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NFIX Gene COMPARTMENTS Subcellular localization image for NFIX gene
Compartment Confidence
nucleus 5
cytoskeleton 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for NFIX Gene

Pathways & Interactions for NFIX Gene

genes like me logo Genes that share pathways with NFIX: view

SIGNOR curated interactions for NFIX Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NFIX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 19706729
GO:0006260 DNA replication IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 19706729
genes like me logo Genes that share ontologies with NFIX: view

Drugs & Compounds for NFIX Gene

No Compound Related Data Available

Transcripts for NFIX Gene

Unigene Clusters for NFIX Gene

Nuclear factor I/X (CCAAT-binding transcription factor):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NFIX Gene

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

Relevant External Links for NFIX Gene

GeneLoc Exon Structure for
NFIX
ECgene alternative splicing isoforms for
NFIX

Expression for NFIX Gene

mRNA expression in normal human tissues for NFIX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NFIX Gene

This gene is overexpressed in Ovary (19.4), Fetal Brain (10.6), Fetal testis (10.3), and Serum (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NFIX Gene



SOURCE GeneReport for Unigene cluster for NFIX Gene Hs.257970

mRNA Expression by UniProt/SwissProt for NFIX Gene

Q14938-NFIX_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with NFIX: view

Protein tissue co-expression partners for NFIX Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for NFIX Gene

Orthologs for NFIX Gene

This gene was present in the common ancestor of animals.

Orthologs for NFIX Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NFIX 35
  • 97.52 (n)
  • 99.8 (a)
NFIX 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFIX 35
  • 97.71 (n)
  • 100 (a)
NFIX 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfix 35
  • 95.4 (n)
  • 99.19 (a)
Nfix 16
Nfix 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NFIX 35
  • 97.83 (n)
  • 97.17 (a)
NFIX 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfix 35
  • 94.78 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia NFIX 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFIX 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFIX 35
  • 78.7 (n)
  • 84.85 (a)
lizard
(Anolis carolinensis)
Reptilia NFIX 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfix 35
  • 79.41 (n)
  • 93.38 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1096 35
zebrafish
(Danio rerio)
Actinopterygii Dr.12642 35
nfixa 35
  • 78.4 (n)
  • 85.19 (a)
nfixa 36
  • 69 (a)
OneToMany
nfixb 36
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG2380 37
  • 46 (a)
NfI 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nfi-1 37
  • 53 (a)
nfi-1 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for NFIX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NFIX Gene

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

Paralogs for NFIX Gene

Paralogs for NFIX Gene

genes like me logo Genes that share paralogs with NFIX: view

Variants for NFIX Gene

Sequence variations from dbSNP and Humsavar for NFIX Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_068720 Sotos syndrome 2 (SOTOS2)
VAR_068721 Sotos syndrome 2 (SOTOS2)
rs745610 -- 13,046,466(+) GCCTT(C/G)CCCCC intron-variant
rs1058993 -- 13,023,687(+) AAAAA(A/T)TTTTG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs763747 -- 13,027,155(+) GGTTA(C/G)AAGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NFIX Gene

Variant ID Type Subtype PubMed ID
nsv911082 CNV Loss 21882294
nsv833754 CNV Loss 17160897
nsv911085 CNV Loss 21882294
nsv911086 CNV Loss 21882294
nsv2422 CNV Insertion 18451855
nsv828444 CNV Loss 20364138
esv275430 CNV Gain+Loss 21479260
nsv911087 CNV Loss 21882294
dgv3735n71 CNV Loss 21882294
nsv828445 CNV Gain 20364138
nsv911090 CNV Loss 21882294
nsv828446 CNV Loss 20364138
nsv828447 CNV Gain 20364138
dgv3736n71 CNV Loss 21882294

Variation tolerance for NFIX Gene

Residual Variation Intolerance Score: 13.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFIX Gene

HapMap Linkage Disequilibrium report
NFIX
Human Gene Mutation Database (HGMD)
NFIX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFIX Gene

Disorders for NFIX Gene

MalaCards: The human disease database

(11) MalaCards diseases for NFIX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
marshall-smith syndrome
  • marinesco-sjogren syndrome
sotos syndrome 2
  • nfix
malan overgrowth syndrome
  • sotos syndrome 2
large intestine lipoma
  • lipoma of large intestine
lipoma of colon
  • colonic lipoma
- elite association - COSMIC cancer census association via MalaCards
Search NFIX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NFIX_HUMAN
  • 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. {ECO:0000269 PubMed:20673863}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:22301465}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NFIX

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFIX
genes like me logo Genes that share disorders with NFIX: view

No data available for Genatlas for NFIX Gene

Publications for NFIX Gene

  1. Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH. (PMID: 7590749) Qian F. … Sippel A.E. (Genomics 1995) 2 3 4 67
  2. 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. (PMID: 8340106) Seisenberger C. … Scherthan H. (Hum. Genet. 1993) 2 3 23
  3. Nuclear factor-1-X regulates astrocyte-specific expression of the alpha1-antichymotrypsin and glial fibrillary acidic protein genes. (PMID: 16565071) Gopalan S.M. … Kordula T. (J. Biol. Chem. 2006) 3 23
  4. 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. (PMID: 7937100) Apt D. … Bernard H.U. (Nucleic Acids Res. 1994) 3 23
  5. Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. (PMID: 24924640) Schanze D. … Zenker M. (Hum. Mutat. 2014) 3

Products for NFIX Gene

Sources for NFIX Gene

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