HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NFIA
nuclear factor I A
Chromosome 1 · 1p31.3
NCBI Gene: 4774Ensembl: ENSG00000162599.19HGNC: HGNC:7784UniProt: Q12857
103PubMed Papers
21Diseases
0Drugs
67Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription factor bindingnucleusDNA-binding transcription activator activity, RNA polymerase II-specificnucleoplasmchromosome 1p32-p31 deletion syndromeNephrosis - deafness - urinary tract - digital malformationsgenetic disorderhypothyroidism
✦AI Summary

NFIA is a transcriptional regulator that binds palindromic DNA sequences 1 to control tissue-specific gene programs with broad metabolic and developmental significance. Mechanistically, NFIA facilitates chr1 accessibility and transcription factor binding; it co-localizes with PPARγ at brown-fat-specific enhancers, where NFIA binding precedes and facilitates PPARγ recruitment 1. In adipocytes, NFIA upregulates mitochondrial oxidative phosphorylation genes and brown-fat-specific programs while simultaneously suppressing proinflammatory cytokine genes like Ccl2, thereby improving glucose homeostasis and limiting weight gain 2. Beyond adipose tissue, NFIA regulates fatty acid metabolism in articular chondrocytes; its inhibition suppresses expression of metabolic enzymes ACACA and CPT2, restoring cellular homeostasis and protecting against osteoarthritis progression, particularly under obesity conditions 3. During retinal development, NFIA controls bipolar interneuron and Müller glia specification while promoting proliferative quiescence 4. NFIA also functions in erythroid cells, where it cooperates with NFIX to silence fetal hemoglobin genes HBG1/2 through direct repression and BCL11A stimulation 5. Clinically, NFIA haploinsufficiency causes Chromosome 1 deletion syndrome, characterized by macrocephaly, craniofacial dysmorphisms, intellectual disability, and urinary tract defects 6.

Sources cited
1
NFIA co-localizes with PPARγ at brown-fat-specific enhancers; NFIA binding precedes and facilitates PPARγ binding to activate brown fat gene program
PMID: 28812581
2
NFIA in adipocytes upregulates oxidative phosphorylation and downregulates proinflammatory genes including Ccl2, improving glucose tolerance and limiting weight gain
PMID: 37487068
3
NFIA regulates fatty acid metabolism in chondrocytes by controlling ACACA and CPT2 expression; NFIA inhibition protects against osteoarthritis in obesity
PMID: 40737429
4
NFIA controls bipolar interneuron and Müller glia cell fate specification and promotes proliferative quiescence in retinal development
PMID: 31128945
5
NFIA cooperates with NFIX to silence fetal hemoglobin genes HBG1/2 through direct repression and BCL11A stimulation in adult erythroid cells
PMID: 35618846
6
NFIA haploinsufficiency causes Chromosome 1p32p31 deletion syndrome with macrocephaly, craniofacial dysmorphisms, intellectual disability, and urinary tract defects
PMID: 36553517
7
NFIA's C-terminal pro#3 domain is required for PPARγ activation and adipogenic gene program; deletion mutant still represses myogenic genes via MyoD1 enhancer competition
PMID: 32991581
Disease Associationsⓘ21
chromosome 1p32-p31 deletion syndromeOpen Targets
0.76Strong
Nephrosis - deafness - urinary tract - digital malformationsOpen Targets
0.56Moderate
genetic disorderOpen Targets
0.52Moderate
hypothyroidismOpen Targets
0.48Moderate
ThyrotoxicosisOpen Targets
0.46Moderate
nontoxic goiterOpen Targets
0.46Moderate
multinodular goiterOpen Targets
0.46Moderate
hyperthyroidismOpen Targets
0.44Moderate
goiterOpen Targets
0.44Moderate
Intellectual disabilityOpen Targets
0.44Moderate
Toxic Nodular GoiterOpen Targets
0.43Moderate
thyroid diseaseOpen Targets
0.43Moderate
risk-taking behaviourOpen Targets
0.40Moderate
mathematical abilityOpen Targets
0.35Weak
Sensorineural hearing impairmentOpen Targets
0.34Weak
hearing lossOpen Targets
0.34Weak
osteoarthritis, hipOpen Targets
0.34Weak
heart failureOpen Targets
0.33Weak
female genital tract polypOpen Targets
0.32Weak
glomerulonephritisOpen Targets
0.31Weak
Brain malformations with or without urinary tract defectsUniProt
Pathogenic Variants67
NM_001134673.4(NFIA):c.70C>T (p.Arg24Ter)Pathogenic
not provided|Chromosome 1p32-p31 deletion syndrome|Brain malformations with or without urinary tract defects
★★☆☆2025→ Residue 24
NM_001134673.4(NFIA):c.250C>T (p.Arg84Ter)Pathogenic
not provided|Brain malformations with or without urinary tract defects|NFIA-Related Disorder|Inborn genetic diseases
★★☆☆2025→ Residue 84
NM_001134673.4(NFIA):c.739_740del (p.Ser247fs)Pathogenic
not provided|Brain malformations with or without urinary tract defects
★★☆☆2024→ Residue 247
NM_001134673.4(NFIA):c.1051C>T (p.Arg351Ter)Pathogenic
not provided|Brain malformations with or without urinary tract defects|NFIA-Related Disorder
★★☆☆2024→ Residue 351
NM_001134673.4(NFIA):c.243dup (p.Asp82fs)Pathogenic
not provided|Chromosome 1p32-p31 deletion syndrome
★★☆☆2022→ Residue 82
NM_001134673.4(NFIA):c.220C>T (p.Arg74Ter)Pathogenic
not provided|NFIA-Related Disorder|Brain malformations with or without urinary tract defects
★★☆☆2022→ Residue 74
NM_001134673.4(NFIA):c.297dup (p.Pro100fs)Likely pathogenic
Chromosome 1p32-p31 deletion syndrome
★★☆☆2020→ Residue 100
NM_001134673.4(NFIA):c.356G>A (p.Cys119Tyr)Pathogenic
not provided
★☆☆☆2025→ Residue 119
NM_001134673.4(NFIA):c.140del (p.Arg47fs)Likely pathogenic
Brain malformations with or without urinary tract defects
★☆☆☆2025→ Residue 47
NM_001134673.4(NFIA):c.346A>G (p.Arg116Gly)Likely pathogenic
Brain malformations with or without urinary tract defects
★☆☆☆2025→ Residue 116
NM_001134673.4(NFIA):c.1076-2A>GLikely pathogenic
Brain malformations with or without urinary tract defects
★☆☆☆2025
NM_001134673.4(NFIA):c.274del (p.Val92fs)Pathogenic
not provided
★☆☆☆2025→ Residue 92
NM_001134673.4(NFIA):c.325G>T (p.Asp109Tyr)Likely pathogenic
Inborn genetic diseases
★☆☆☆2025→ Residue 109
NM_001134673.4(NFIA):c.918_921del (p.Ser307fs)Pathogenic
Brain malformations with or without urinary tract defects
★☆☆☆2025→ Residue 307
NM_001134673.4(NFIA):c.763_766dup (p.Ser256fs)Pathogenic
not provided
★☆☆☆2025→ Residue 256
NM_001134673.4(NFIA):c.310_311dup (p.Leu105fs)Likely pathogenic
Brain malformations with or without urinary tract defects
★☆☆☆2025→ Residue 105
NM_001134673.4(NFIA):c.1042_1046del (p.Gln348fs)Pathogenic
not provided
★☆☆☆2025→ Residue 348
NM_001134673.4(NFIA):c.746del (p.Leu249fs)Pathogenic
not provided
★☆☆☆2024→ Residue 249
NM_001134673.4(NFIA):c.25C>T (p.Gln9Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 9
NM_001134673.4(NFIA):c.875dup (p.Phe293fs)Likely pathogenic
Brain malformations with or without urinary tract defects
★☆☆☆2024→ Residue 293
View on ClinVar ↗
Related Genes
SOX9Protein interaction87%SPI1Protein interaction79%SLC1A3Protein interaction76%NFIBProtein interaction72%SNORCShared pathway20%IQCEShared pathway20%
Tissue Expression6 tissues
Heart
100%
Liver
84%
Bone Marrow
63%
Ovary
58%
Brain
56%
Lung
29%
Gene Interaction Network
Click a node to explore
NFIASOX9SPI1SLC1A3NFIBSNORCIQCE
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q12857
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.17Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.08 [0.04–0.17]
RankingsWhere NFIA stands among ~20K protein-coding genes
  • #4,654of 20,598
    Most Researched103 · top quartile
  • #1,083of 5,498
    Most Pathogenic Variants67 · top quartile
  • #316of 17,882
    Most Constrained (LOEUF)0.17 · top 5%
Genes detectedNFIA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
NFIA in adipocytes reciprocally regulates mitochondrial and inflammatory gene program to improve glucose homeostasis.
PMID: 37487068
Proc Natl Acad Sci U S A · 2023
1.00
2
NFIA regulates articular chondrocyte fatty acid metabolism and joint homeostasis.
PMID: 40737429
Sci Transl Med · 2025
0.90
3
Single-Cell RNA-Seq Analysis of Retinal Development Identifies NFI Factors as Regulating Mitotic Exit and Late-Born Cell Specification.
PMID: 31128945
Neuron · 2019
0.80
4
NFIA-ETO2, TP53, and erythroid leukemogenesis.
PMID: 37140954
Blood · 2023
0.70
5
NFIA co-localizes with PPARγ and transcriptionally controls the brown fat gene program.
PMID: 28812581
Nat Cell Biol · 2017
0.60