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Gene

NFKBIA

NFKB inhibitor alpha

Summary

Cytogenetic location
14q13.2
Coordinates
Chromosome 14: 35,401,513–35,404,749 (GRCh38)
Exons
6 exons across 3.2 kb
Protein
317 amino acids
Also known as
IKBA, MAD-3, IkappaBalpha
Previous symbols
NFKBI
MANE Select transcript
ENST00000216797.10NM_020529.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Ectodermal Dysplasias

    • Hypohidrotic Ectodermal Dysplasia

      A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

How NFKBIA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 14, with a bracket where NFKBIA sits. NFKBIA and 9 genes near it on chromosome 14, from 34,903,131 to 35,903,130.Chromosome 1414q13.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3335 Mb35.2 Mb35.4 Mb35.6 Mb35.8 MbSRP54: 34,981,957–35,029,686, forward strandSRP54FAM177A1: 35,045,117–35,116,630, forward strandFAM177A1PPP2R3C: 35,085,467–35,122,547, reverse strandPPP2R3CPRORP: 35,121,842–35,278,538, forward strandPRORP: 35,122,549–35,317,474, forward strandPSMA6: 35,278,596–35,318,734, forward strandPSMA6NFKBIA: 35,401,513–35,404,749, reverse strandNFKBIAINSM2: 35,534,164–35,537,054, forward strandINSM2RALGAPA1: 35,538,352–35,809,325, reverse strandRALGAPA1BRMS1L: 35,826,299–35,932,325, forward strandBRMS1LDiagram of NFKBIA: 6 exons on the reverse strand of chromosome 14Exon 1: 4 known disease-causing sitesExon 6: 35,401,513–35,402,060, 548 basesExon 5: 35,402,394–35,402,663, 270 basesExon 4: 35,402,771–35,402,859, 89 basesExon 3: 35,403,150–35,403,360, 211 basesExon 2: 35,403,690–35,403,798, 109 basesExon 1: 35,404,418–35,404,749, 332 bases6543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.6 kb of the gene's 3.2 kb; 954 of those bases code for the protein.

How a genome test reads NFKBIA

4

positions in NFKBIA where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 3.2 kb of NFKBIA, introns included, not only the 1.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NFKBIA gene: NFKB inhibitor alpha. Retrieved 16 October 2026, from https://dantelabs.com/genes/nfkbia

Vancouver

Dante Labs. NFKBIA gene: NFKB inhibitor alpha [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nfkbia

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