NFIB Chromosome 9
Nuclear factor I B
Upload your DNA to see your personal genotypes for variants in NFIB.
What This Gene Does
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, Jul 2025]
Gene Info
Gene Group
Nuclear factor I family
Locus Type
gene with protein product
Location
9p23-p22.3
Ensembl
ENSG00000147862
Associated Conditions (7)
Macrocephaly
acquired
with impaired intellectual development
Inborn genetic diseases
See cases
Intellectual disability
Marfanoid habitus and intellectual disability
Key Variants
RS2060062099
Conflicting classifications of pathogenicity
Macrocephaly, acquired, with impaired intellectual development
Health Risk
RS753551959
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1011357372
Likely pathogenic
Macrocephaly, acquired, with impaired intellectual development
Health Risk
RS1587053767
Likely pathogenic
Health Risk
RS2060074543
Likely pathogenic
Health Risk
RS2132702648
Likely pathogenic
Macrocephaly, acquired, with impaired intellectual development
Health Risk
RS2132704027
Likely pathogenic
Macrocephaly, acquired, with impaired intellectual development
Health Risk
RS2537830164
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2537886940
Likely pathogenic
Macrocephaly, acquired, with impaired intellectual development
Health Risk
RS2538992151
Likely pathogenic
See cases, See cases
Health Risk
RS2538992242
Likely pathogenic
Health Risk
RS2538992538
Likely pathogenic
Macrocephaly, acquired, with impaired intellectual development
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2060062099 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly, acquired, with impaired intellectual development |
| RS753551959 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1011357372 | Health Risk | Likely pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS1587053767 | Health Risk | Likely pathogenic | — |
| RS2060074543 | Health Risk | Likely pathogenic | — |
| RS2132702648 | Health Risk | Likely pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS2132704027 | Health Risk | Likely pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS2537830164 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2537886940 | Health Risk | Likely pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS2538992151 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2538992242 | Health Risk | Likely pathogenic | — |
| RS2538992538 | Health Risk | Likely pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS1268417773 | Health Risk | Pathogenic | — |
| RS1554639173 | Health Risk | Pathogenic | Macrocephaly, Intellectual disability, acquired |
| RS1554649366 | Health Risk | Pathogenic | Macrocephaly, Intellectual disability, acquired |
| RS1554709683 | Health Risk | Pathogenic | Macrocephaly, Intellectual disability, acquired |
| RS1554709792 | Health Risk | Pathogenic | Intellectual disability, Macrocephaly, acquired |
| RS2537829946 | Health Risk | Pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS2538098365 | Health Risk | Pathogenic | — |
| RS2538135168 | Health Risk | Pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS2538994311 | Health Risk | Pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS2539031078 | Health Risk | Pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS966707448 | Health Risk | Pathogenic | — |
| RS1364033144 | Health Risk | Pathogenic/Likely pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS1554709654 | Health Risk | Pathogenic/Likely pathogenic | Macrocephaly, Intellectual disability, acquired |
| RS1554709662 | Health Risk | Pathogenic/Likely pathogenic | Macrocephaly, Intellectual disability, acquired |
| RS1588253471 | Health Risk | Pathogenic/Likely pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS2132702633 | Health Risk | Pathogenic/Likely pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS2132704082 | Health Risk | Pathogenic/Likely pathogenic | Macrocephaly, acquired, with impaired intellectual development |
| RS764333096 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Macrocephaly, acquired |