Gene Gene information from NCBI Gene database.
Entrez ID 4781
Gene name Nuclear factor I B
Gene symbol NFIB
Synonyms (NCBI Gene)
CTFHMGIC/NFIBMACIDNF-I/BNF1-BNFI-BNFI-REDNFIB2NFIB3
Chromosome 9
Chromosome location 9p23-p22.3
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs764333096 G>A,T Uncertain-significance, pathogenic, likely-pathogenic Upstream transcript variant, intron variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant, synonymous variant
rs1554639173 TTCGAGTTGAGATG>- Pathogenic Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554649366 ->CA Pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, initiator codon variant
rs1554709654 A>G Pathogenic, likely-pathogenic Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, intron variant
rs1554709662 T>C Pathogenic, likely-pathogenic Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
1563
miRTarBase ID miRNA Experiments Reference
MIRT002090 hsa-miR-21-5p Luciferase reporter assayqRT-PCRWestern blot 18384814
MIRT002090 hsa-miR-21-5p Review 19935707
MIRT006734 hsa-miR-372-3p ELISALuciferase reporter assayMicroarrayqRT-PCRWestern blot 21608007
MIRT006734 hsa-miR-372-3p ELISALuciferase reporter assayMicroarrayqRT-PCRWestern blot 21608007
MIRT006734 hsa-miR-372-3p ELISALuciferase reporter assayMicroarrayqRT-PCRWestern blot 21608007
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
81
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9099724
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 19540848
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600728 7785 ENSG00000147862
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00712
Protein name Nuclear factor 1 B-type (NF1-B) (Nuclear factor 1/B) (CCAAT-box-binding transcription factor) (CTF) (Nuclear factor I/B) (NF-I/B) (NFI-B) (TGGCA-binding protein)
Protein 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 adenovir
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10524 NfI_DNAbd_pre-N 8 47 Nuclear factor I protein pre-N-terminus Family
PF03165 MH1 69 173 MH1 domain Domain
PF00859 CTF_NFI 209 418 CTF/NF-I family transcription modulation region Family
Sequence
Sequence length 420
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic; Pathogenic rs764333096, rs1554709792, rs1554709683, rs1554709662, rs1554709654, rs1554649366, rs1554639173 RCV000677901
RCV000677900
RCV000677902
RCV000677903
RCV000677904
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macrocephaly Likely pathogenic; Pathogenic rs764333096, rs1554709792, rs1554709683, rs1554709662, rs1554709654, rs1554649366, rs1554639173 RCV000677901
RCV000677900
RCV000677902
RCV000677903
RCV000677904
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macrocephaly, acquired, with impaired intellectual development Likely pathogenic; Pathogenic rs2132702648, rs2132704027, rs2132702633, rs2132704082, rs2537886940, rs2537829946, rs2538994311, rs2538992538, rs2538135168, rs2539031078, rs1011357372, rs764333096, rs1554709792, rs1554709683, rs1554709662
View all (5 more)
RCV005603727
RCV001782523
RCV001782524
RCV001843764
RCV002289499
View all (15 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marfanoid habitus and intellectual disability Likely pathogenic; Pathogenic rs1554709662 RCV000850410
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BELL'S PALSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 21901247, 29577671
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 19841262, 20452298, 20702610, 21164292, 21572406, 21618541, 21901247, 22015727, 22505352, 23222122, 23398044, 23725736, 24732452, 25217885, 25990369
View all (18 more)
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 23685749
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 9484777
★☆☆☆☆
Found in Text Mining only
Adenoma, Basal Cell Adenoma BEFREE 31189999
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 17353270, 19841262, 20702610, 21618541, 21709671, 21785271, 21901247, 21976542, 22505352, 23685749, 23725736, 23825564, 24302647, 24893972, 25217885
View all (21 more)
★☆☆☆☆
Found in Text Mining only
Aicardi Syndrome Aicardi syndrome Pubtator 20702610, 23825564, 24302647, 24893972, 27859477, 28719465 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 24067654 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyloidosis Amyloidosis BEFREE 27430330, 31771065
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 29087237
★☆☆☆☆
Found in Text Mining only