NFIB

Chr 9p23-p22.3

nuclear factor I B

Aliases:: NFI-RED, NFIB2, NFIB3
MANE:: ENST00000380953.6

OMIM: 600728 ↗NCBI: 4781 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NFIB · O00712

v62025-08-01

Predicted Aligned Error matrix for NFIB — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.3/ 100

Low

420 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)7%
Low(50–70)11%
Very low(< 50)44%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

macrocephaly, acquired, with impaired intellectual development
0.72
macrocephaly-developmental delay syndrome
0.64
Intellectual disability
0.54
Macrocephaly
0.53
Abnormality of the skeletal system
0.52
hereditary disease
0.45
coronary artery disorder
0.45
mathematical ability
0.42
neurodegenerative disease
0.40
type 2 diabetes mellitus
0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nuclear factor 1 B-type

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