NFIB nuclear factor I B
Gene ID: 4781, updated on 27-Nov-2024Gene type: protein coding
Also known as: CTF; MACID; NF1-B; NFI-B; NFIB2; NFIB3; NF-I/B; NFI-RED; HMGIC/NFIB
- See all available tests in GTR for this gene
- Go to complete Gene record for NFIB
- Go to Variation Viewer for NFIB variants
Summary
Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and transcription regulator inhibitor activity. Involved in brain development and regulation of DNA-templated transcription. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. GeneReviews: Not available | |
| Macrocephaly, acquired, with impaired intellectual development | See labs |
Genomic context
- Location:
- 9p23-p22.3
- Sequence:
- Chromosome: 9; NC_000009.12 (14081843..14532077, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NFIB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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