Aliases for NFIB Gene

Aliases for NFIB Gene

  • Nuclear Factor I B 2 3 5
  • CCAAT-Box-Binding Transcription Factor 3 4
  • Nuclear Factor 1 B-Type 3 4
  • TGGCA-Binding Protein 3 4
  • Nuclear Factor 1/B 3 4
  • Nuclear Factor I/B 2 4
  • NF-I/B 3 4
  • NF1-B 3 4
  • NFI-B 3 4
  • CTF 3 4
  • HMGIC/NFIB 3
  • NFI-RED 3
  • MACID 3
  • NFIB2 3
  • NFIB3 3

External Ids for NFIB Gene

Previous GeneCards Identifiers for NFIB Gene

  • GC09M014252
  • GC09M014068

Summaries for NFIB Gene

GeneCards Summary for NFIB Gene

NFIB (Nuclear Factor I B) is a Protein Coding gene. Diseases associated with NFIB include Macrocephaly, Acquired, With Impaired Intellectual Development and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are RNA Polymerase III Transcription Initiation and Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is NFIA.

UniProtKB/Swiss-Prot Summary for NFIB Gene

  • Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402). 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 NFIB Gene

Additional gene information for NFIB Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFIB Gene

Genomics for NFIB Gene

GeneHancer (GH) Regulatory Elements for NFIB Gene

Promoters and enhancers for NFIB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J014305 Promoter/Enhancer 3 UCNEbase EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 762.5 +83.9 83948 18.9 ZNF785 SIN3A ZBTB40 CTCF ZBTB6 RBPJ POLR2A CTBP1 ZNF362 ETV6 NFIB ZDHHC21 ENSG00000273399 ENSG00000215237 TTC39B ENSG00000225472 ENSG00000234297 ENSG00000234982
GH09J014178 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 750.1 +218.3 218280 3.9 SP1 ZSCAN4 FOXA2 SOX13 JUND ZBTB17 YY1 ZBTB33 HNF4A REST NFIB RPL7AP47 lnc-ZDHHC21-5
GH09J014529 Promoter/Enhancer 1.4 EPDnew Ensembl CraniofacialAtlas 750.1 -131.7 -131720 4.2 L3MBTL2 TEAD4 ZNF639 REST ZNF512 ATF1 PKNOX1 HDAC1 ZNF316 EP300 ENSG00000237137 NFIB CER1 piR-31937-249
GH09J014440 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 750.3 -38.5 -38474 2.1 BCL6B ZIC2 PRDM10 ZSCAN4 RCOR1 NFIC GLIS1 ZNF398 ZBTB33 NFIB TRH-GTG1-6 piR-40110-690 ENSG00000287708
GH09J014400 Enhancer 0.8 FANTOM5 ENCODE 757.9 -1.8 -1767 1.4 CTCF SREBF1 RAD21 SP1 CEBPG REST CEBPB NFE2 SMC3 YY1 NFIB ZDHHC21 ENSG00000287708 piR-50444-467
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFIB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NFIB gene promoter:
  • ARP-1
  • COMP1
  • CUTL1
  • GR
  • GR-alpha
  • GR-beta
  • STAT5A

Genomic Locations for NFIB Gene

Genomic Locations for NFIB Gene
chr9:14,081,843-14,398,983
(GRCh38/hg38)
Size:
317,141 bases
Orientation:
Minus strand
chr9:14,081,842-14,398,982
(GRCh37/hg19)
Size:
317,141 bases
Orientation:
Minus strand

Genomic View for NFIB Gene

Genes around NFIB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NFIB Gene

Proteins for NFIB Gene

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

    Protein Symbol:
    O00712-NFIB_HUMAN
    Recommended name:
    Nuclear factor 1 B-type
    Protein Accession:
    O00712
    Secondary Accessions:
    • G3V1P1
    • H7BYE8
    • O00166
    • Q12858
    • Q5VW29
    • Q63HM5
    • Q6ZNF9
    • Q96J45

    Protein attributes for NFIB Gene

    Size:
    420 amino acids
    Molecular mass:
    47442 Da
    Quaternary structure:
    • Binds DNA as a homodimer.

    Alternative splice isoforms for NFIB Gene

neXtProt entry for NFIB Gene

Post-translational modifications for NFIB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NFIB Gene

Domains & Families for NFIB Gene

Gene Families for NFIB Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for NFIB Gene

GenScript: Design optimal peptide antigens:
  • TGGCA-binding protein (NFIB_HUMAN)
  • Nuclear factor 1 (Q5VW26_HUMAN)
  • Nuclear factor 1 (Q5VW27_HUMAN)
  • Nuclear factor 1 (Q5VW28_HUMAN)
  • Nuclear factor 1 (Q5VW29_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00712

UniProtKB/Swiss-Prot:

NFIB_HUMAN :
  • Belongs to the CTF/NF-I family.
Family:
  • Belongs to the CTF/NF-I family.
genes like me logo Genes that share domains with NFIB: view

Function for NFIB Gene

Molecular function for NFIB Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402). 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:
nuclear transcription factor I B,DNA binding protein

Phenotypes From GWAS Catalog for NFIB Gene

Gene Ontology (GO) - Molecular Function for NFIB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 19540848
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS,IDA 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 19540848
GO:0003677 DNA binding IEA,IDA 9099724
GO:0003690 double-stranded DNA binding IEA --
genes like me logo Genes that share ontologies with NFIB: view
genes like me logo Genes that share phenotypes with NFIB: view

Human Phenotype Ontology for NFIB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NFIB Gene

MGI Knock Outs for NFIB:

Animal Model Products

CRISPR Products

miRNA for NFIB Gene

miRTarBase miRNAs that target NFIB
Targeted motifs for NFIB Gene
HOMER Transcription Factor Regulatory Elements motif NFIB
  • Consensus sequence: CTTGGCACNGTGCCAA Submotif: canonical Cell Type: LNCAP

Clone Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for NFIB Gene

Localization for NFIB Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFIB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFIB gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFIB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA,IEA 9099724
GO:0044300 cerebellar mossy fiber ISS --
genes like me logo Genes that share ontologies with NFIB: view

Pathways & Interactions for NFIB Gene

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

SIGNOR curated interactions for NFIB Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NFIB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0002062 chondrocyte differentiation ISS --
GO:0006260 DNA replication IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007420 brain development IMP 30388402
genes like me logo Genes that share ontologies with NFIB: view

Drugs & Compounds for NFIB Gene

(1) Drugs for NFIB Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methylphenidate Approved, Investigational Pharma 413
genes like me logo Genes that share compounds with NFIB: view

Transcripts for NFIB Gene

CRISPR Products

Clone Products

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

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

Relevant External Links for NFIB Gene

GeneLoc Exon Structure for
NFIB
ECgene alternative splicing isoforms for
NFIB

Expression for NFIB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NFIB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NFIB Gene

This gene is overexpressed in Heart (20.1), Fetal Brain (12.8), and Ovary (7.8).

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



Protein tissue co-expression partners for NFIB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NFIB Gene:

NFIB

SOURCE GeneReport for Unigene cluster for NFIB Gene:

Hs.644095

Evidence on tissue expression from TISSUES for NFIB Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Intestine(4.2)
  • Lung(3)
genes like me logo Genes that share expression patterns with NFIB: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NFIB Gene

Orthologs for NFIB Gene

This gene was present in the common ancestor of animals.

Orthologs for NFIB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFIB 33 32
  • 99.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFIB 33 32
  • 97.07 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfib 32
  • 94.87 (n)
mouse
(Mus musculus)
Mammalia Nfib 17 33 32
  • 94.27 (n)
oppossum
(Monodelphis domestica)
Mammalia NFIB 33
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFIB 33
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NFIB 33
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFIB 33 32
  • 91.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFIB 33
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfib 32
  • 84.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2380 34
  • 75 (a)
NfI 33
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nfi-1 33 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 37 (a)
OneToMany
Species where no ortholog for NFIB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for NFIB Gene

ENSEMBL:
Gene Tree for NFIB (if available)
TreeFam:
Gene Tree for NFIB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NFIB: view image

Paralogs for NFIB Gene

Paralogs for NFIB Gene

(7) SIMAP similar genes for NFIB Gene using alignment to 10 proteins:

  • NFIB_HUMAN
  • G3V1P1_HUMAN
  • Q5VW26_HUMAN
  • Q5VW27_HUMAN
  • Q5VW28_HUMAN
  • Q5VW30_HUMAN
  • Q5VW31_HUMAN
  • Q5W0Y9_HUMAN
  • U3KPY9_HUMAN
  • U3KQE8_HUMAN
genes like me logo Genes that share paralogs with NFIB: view

Variants for NFIB Gene

Sequence variations from dbSNP and Humsavar for NFIB Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1554639173 pathogenic, Intellectual disability, Macrocephalus, MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 14,120,609(-) GTTCGAGTTGAGATG/G coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1554639196 uncertain-significance, Intellectual disability, Macrocephalus 14,120,618(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1554649366 pathogenic, Intellectual disability, Macrocephalus, MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 14,150,192(-) CA/CACA coding_sequence_variant, genic_downstream_transcript_variant, initiator_codon_variant, non_coding_transcript_variant, stop_gained
rs1554709654 pathogenic, Intellectual disability, Macrocephalus, MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 14,307,156(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1554709662 pathogenic, Intellectual disability, Macrocephalus, MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 14,307,175(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv480n21 CNV loss 19592680
esv2669830 CNV deletion 23128226
esv2673979 CNV deletion 23128226
esv2738220 CNV deletion 23290073
esv2738221 CNV deletion 23290073
esv2738222 CNV deletion 23290073
esv2738223 CNV deletion 23290073
esv2738224 CNV deletion 23290073
esv3544575 CNV deletion 23714750
esv3619750 CNV loss 21293372
esv6710 CNV gain 19470904
esv991653 OTHER inversion 20482838
nsv1020298 CNV loss 25217958
nsv1033764 CNV loss 25217958
nsv1076137 CNV deletion 25765185
nsv1137629 CNV deletion 24896259
nsv1144248 CNV deletion 24896259
nsv474265 CNV novel sequence insertion 20440878
nsv477288 CNV novel sequence insertion 20440878
nsv478666 CNV novel sequence insertion 20440878
nsv526315 CNV loss 19592680
nsv528796 CNV loss 19592680
nsv831516 CNV loss 17160897
nsv950837 CNV deletion 24416366
nsv950839 CNV deletion 24416366
nsv972651 CNV duplication 23825009

Variation tolerance for NFIB Gene

Residual Variation Intolerance Score: 12.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NFIB Gene

Human Gene Mutation Database (HGMD)
NFIB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFIB

SNP Genotyping and Copy Number Assay Products

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

Disorders for NFIB Gene

MalaCards: The human disease database

(23) MalaCards diseases for NFIB Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macrocephaly, acquired, with impaired intellectual development
  • macid
alacrima, achalasia, and mental retardation syndrome
  • aamr
breast adenoid cystic carcinoma
  • adenoid cystic carcinoma of breast
adenoid cystic carcinoma
  • salivary gland adenoid cystic carcinoma
lacrimal gland adenocarcinoma
  • adenocarcinoma of lacrimal gland
- elite association - COSMIC cancer census association via MalaCards
Search NFIB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NFIB_HUMAN
  • Macrocephaly, acquired, with impaired intellectual development (MACID) [MIM:618286]: An autosomal dominant disorder characterized by postnatal macrocephaly and borderline to mild mental retardation. Additional variable neurodevelopmental features include muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioral abnormalities. Some patients present corpus callosum dysgenesis. {ECO:0000269 PubMed:30388402}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NFIB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NFIB: view

No data available for Genatlas for NFIB Gene

Publications for NFIB Gene

  1. NFI-B3, a novel transcriptional repressor of the nuclear factor I family, is generated by alternative RNA processing. (PMID: 9099724) Liu Y … Apt D (The Journal of biological chemistry 1997) 3 4 23 56
  2. 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 AE (Genomics 1995) 2 3 4 56
  3. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. (PMID: 30388402) Schanze I … Richards LJ (American journal of human genetics 2018) 3 4 56
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  5. The C-terminal domain of the nuclear factor I-B2 isoform is glycosylated and transactivates the WAP gene in the JEG-3 cells. (PMID: 17511965) Mukhopadhyay SS … Rosen JM (Biochemical and biophysical research communications 2007) 3 23 56

Products for NFIB Gene

Sources for NFIB Gene