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Gene

IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

Summary

Cytogenetic location
Xq28
Coordinates
Chromosome X: 154,547,620–154,565,033 (GRCh38)
Exons
10 exons across 17.4 kb
Protein
419 amino acids
Inheritance
X-linked dominant
Also known as
IKK-gamma, NEMO, Fip3p, FIP-3, FIP3, IKKAP1, IKKG
Previous symbols
IP2, IP1
MANE Select transcript
ENST00000594239.6NM_001099857.5
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

  • X-linked Autoinflammatory Disease

    • Autoinflammatory Disease, X-Linked

      An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.

      • 1 GenCC submitter rates it definitive or strong

  • 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).

      • 1 GenCC submitter rates it definitive or strong

  • Vitreoretinopathy

    • Incontinentia PigmentiX-linked dominant

      Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

      • ClinGen rates the link definitive
      • 5 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.

      • 1 GenCC submitter rates it definitive or strong
    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

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

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

X-linked dominant
The change is on the X chromosome, and one copy is enough. A mother who has it passes it on to each child with a one-in-two chance; a father, to all of his daughters and none of his sons.

How IKBKG is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where IKBKG sits. IKBKG and 32 genes near it on chromosome X, from 154,056,327 to 155,056,326.Chromosome XXq28p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28154.2 Mb154.4 Mb154.6 Mb154.8 Mb155 MbMECP2: 154,021,573–154,137,103, reverse strandMECP2OPN1LW: 154,144,243–154,159,032, forward strandOPN1LWOPN1MW: 154,182,596–154,196,861, forward strandOPN1MWOPN1MW2: 154,219,756–154,233,286, forward strandOPN1MW2OPN1MW3: 154,257,582–154,271,090, forward strandOPN1MW3TEX28: 154,271,265–154,295,853, reverse strandTEX28TKTL1: 154,295,795–154,330,350, forward strandTKTL1FLNA: 154,348,524–154,374,643, reverse strandEMD: 154,379,205–154,381,574, forward strandEMDRPL10: 154,389,955–154,409,168, forward strandRPL10DNASE1L1: 154,401,236–154,412,119, reverse strandDNASE1L1TAFAZZIN: 154,409,456–154,421,726, forward strandTAFAZZINATP6AP1: 154,428,618–154,436,517, forward strandGDI1: 154,436,600–154,443,467, forward strandFAM50A: 154,444,103–154,450,655, forward strandPLXNA3: 154,458,275–154,477,779, forward strandLAGE3: 154,477,598–154,479,291, reverse strandLAGE3UBL4A: 154,483,717–154,486,661, reverse strandUBL4ASLC10A3: 154,487,306–154,490,690, reverse strandSLC10A3FAM3A: 154,505,019–154,516,882, reverse strandFAM3AG6PD: 154,517,825–154,547,584, reverse strandG6PDIKBKG: 154,547,620–154,565,033, forward strandIKBKGCTAG1A: 154,585,133–154,586,816, forward strandCTAG1ACTAG1B: 154,617,609–154,619,282, reverse strandCTAG1BCTAG2: 154,651,972–154,653,579, reverse strandCTAG2GAB3: 154,675,249–154,751,583, reverse strandGAB3DKC1: 154,762,741–154,777,697, forward strandDKC1MPP1: 154,778,684–154,821,039, reverse strandMPP1SMIM9: 154,823,348–154,834,662, reverse strandSMIM9F8: 154,835,788–155,026,940, reverse strandF8H2AB1: 154,884,972–154,885,558, forward strandH2AB1F8A1: 154,886,355–154,888,061, forward strandF8A1FUNDC2: 155,025,980–155,065,641, forward strandFUNDC2Diagram of IKBKG: 10 exons on the forward strand of chromosome XExon 2: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 3 known disease-causing sitesExon 1: 154,547,620–154,547,745, 126 basesExon 2: 154,551,988–154,552,189, 202 basesExon 3: 154,556,165–154,556,376, 212 basesExon 4: 154,558,532–154,558,650, 119 basesExon 5: 154,560,407–154,560,559, 153 basesExon 6: 154,561,688–154,561,784, 97 basesExon 7: 154,562,810–154,562,953, 144 basesExon 8: 154,563,559–154,563,701, 143 basesExon 9: 154,563,959–154,564,020, 62 basesExon 10: 154,564,319–154,565,033, 715 bases123456789105′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 2 kb of the gene's 17.4 kb; 1,260 of those bases code for the protein.

How a genome test reads IKBKG

19

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

18 of them (95%) fall in regions short reads find hard.

  • Low mappability (18 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (18 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 17.4 kb of IKBKG, introns included, not only the 2 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.). IKBKG gene: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma. Retrieved 17 October 2026, from https://dantelabs.com/genes/ikbkg

Vancouver

Dante Labs. IKBKG gene: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ikbkg

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