NFIB (nuclear factor I B)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4781
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear factor I B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NFIB
Synonyms (NCBI Gene) Gene synonyms aliases
CTF, HMGIC/NFIB, MACID, NF-I/B, NF1-B, NFI-B, NFI-RED, NFIB2, NFIB3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MACID
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p23-p22.3
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1563)
miRTarBase ID miRNA Experiments Reference
MIRT002090 hsa-miR-21-5p Luciferase reporter assay, qRT-PCR, Western blot 18384814
MIRT002090 hsa-miR-21-5p Review 19935707
MIRT006734 hsa-miR-372-3p ELISA, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21608007
MIRT006734 hsa-miR-372-3p ELISA, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21608007
MIRT006734 hsa-miR-372-3p ELISA, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21608007
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(31)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 19540848
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 9099724, 19540848
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600728 7785 ENSG00000147862
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 23685749
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)		 30388402
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557 30388402
Macrocephaly, with impaired intellectual development MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT rs764333096, rs1554709792, rs1554709683, rs1554709662, rs1554709654, rs1554649366, rs1554639173, rs1588253471 30388402
Show/Hide Unknown Diseases (8)
Unknown
Disease term Disease name Evidence References Source
Hypothyroidism Hypothyroidism GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Coronary artery disease Coronary artery disease GWAS
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (54)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 29577671
Aicardi Syndrome Associate 20702610, 23825564, 24302647, 24893972, 27859477, 28719465
Alzheimer Disease Associate 24067654
Anal Gland Neoplasms Associate 34321419
Astrocytoma Associate 23161775, 37155843
Breast Neoplasms Associate 19841262, 21925980, 29180470, 33751828, 40009831
Calcinosis Cutis Associate 25764026
Calcinosis Cutis Stimulate 33751828
Carcinogenesis Associate 36369883
Carcinoma Adenoid Cystic Associate 19841262, 20702610, 21572406, 21785271, 21976542, 23398044, 23778141, 25951887, 25963073, 26095796, 26309189, 26631609, 26862087, 26969893, 27491809
View all (12 more)