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Gene

RELB

RELB proto-oncogene, NF-kB subunit

Summary

Cytogenetic location
19q13.32
Coordinates
Chromosome 19: 45,001,464–45,038,192 (GRCh38)
Exons
12 exons across 36.7 kb
Protein
579 amino acids
Also known as
REL-B
MANE Select transcript
ENST00000221452.13NM_006509.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Other Inborn Errors of Immunity

      • 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
        • 2 GenCC submitters rate it definitive or strong
        Actionability

        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

    How RELB is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 19, with a bracket where RELB sits. RELB and 35 genes near it on chromosome 19, from 44,519,828 to 45,519,827.Chromosome 1919q13.32p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4344.6 Mb44.8 Mb45 Mb45.2 Mb45.4 MbCEACAM20: 44,501,677–44,529,788, reverse strandCEACAM20IGSF23: 44,613,563–44,636,787, forward strandIGSF23PVR: 44,643,798–44,666,162, forward strandPVRCEACAM19: 44,662,278–44,684,370, forward strandCEACAM19CEACAM16: 44,699,151–44,710,718, forward strandCEACAM16BCL3: 44,747,705–44,760,044, forward strandBCL3CBLC: 44,777,845–44,802,301, forward strandCBLCBCAM: 44,809,040–44,821,421, forward strandBCAMNECTIN2: 44,846,175–44,890,134, forward strandNECTIN2TOMM40: 44,890,569–44,903,695, forward strandAPOE: 44,903,787–44,909,396, forward strandAPOC1: 44,913,133–44,920,054, forward strandAPOC1APOC2: 44,936,126–44,949,585, forward strandAPOC2APOC4: 44,942,234–44,945,496, forward strandAPOC4APOC4-APOC2: 44,942,238–44,949,565, forward strandAPOC4-APOC2CLPTM1: 44,954,585–44,993,342, forward strandCLPTM1RELB: 45,001,464–45,038,192, forward strandRELBCLASRP: 45,039,042–45,070,956, forward strandCLASRPZNF296: 45,071,500–45,076,485, reverse strandZNF296GEMIN7: 45,075,575–45,091,518, forward strandGEMIN7MARK4: 45,079,288–45,305,284, forward strandPPP1R37: 45,091,396–45,148,077, forward strandPPP1R37NKPD1: 45,149,744–45,160,982, reverse strandNKPD1BLOC1S3: 45,152,811–45,216,933, forward strandBLOC1S3TRAPPC6A: 45,162,928–45,178,268, reverse strandTRAPPC6AEXOC3L2: 45,210,600–45,245,429, reverse strandEXOC3L2CKM: 45,306,411–45,323,372, reverse strandCKMKLC3: 45,333,434–45,351,537, forward strandKLC3ERCC2: 45,349,773–45,370,918, reverse strandERCC2PPP1R13L: 45,379,634–45,406,367, reverse strandPPP1R13LPOLR1G: 45,406,644–45,410,737, forward strandPOLR1GERCC1: 45,407,333–45,479,055, reverse strandERCC1FOSB: 45,467,989–45,475,179, forward strandFOSBRTN2: 45,485,292–45,497,055, reverse strandRTN2PPM1N: 45,488,777–45,503,129, forward strandPPM1NVASP: 45,506,579–45,527,839, forward strandVASPDiagram of RELB: 12 exons on the forward strand of chromosome 19Exon 8: 1 known disease-causing siteExon 1: 45,001,464–45,001,685, 222 basesExon 2: 45,002,949–45,002,996, 48 basesExon 3: 45,009,814–45,009,822, 9 basesExon 4: 45,011,936–45,012,276, 341 basesExon 5: 45,022,053–45,022,210, 158 basesExon 6: 45,025,329–45,025,420, 92 basesExon 7: 45,025,606–45,025,737, 132 basesExon 8: 45,028,888–45,028,992, 105 basesExon 9: 45,032,534–45,032,749, 216 basesExon 10: 45,034,244–45,034,312, 69 basesExon 11: 45,034,451–45,034,528, 78 basesExon 12: 45,037,405–45,038,192, 788 bases1246810125′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 2.3 kb of the gene's 36.7 kb; 1,740 of those bases code for the protein.

    Sequencing RELB

    6Low

    How hard RELB is to sequence with short reads, out of 100

    • Mappability0%
    • Homology0%
    • Repeats0.2%
    • GC content61%
    • Reference coverage0%

    1

    position in RELB 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 36.7 kb of RELB, introns included, not only the 2.3 kb of exons.

    Genes linked to the same conditions

    Traits linked to RELB

    The Human Phenotype Ontology lists these as features of the rare conditions RELB can cause. Each trait's page lists the other genes linked to it.

    External links

    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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.17-8666dff2.

    Cite this page

    APA

    Dante Labs. (n.d.). RELB gene: RELB proto-oncogene, NF-kB subunit. Retrieved 17 October 2026, from https://dantelabs.com/genes/relb

    Vancouver

    Dante Labs. RELB gene: RELB proto-oncogene, NF-kB subunit [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/relb

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