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Gene

LRBA

LPS responsive beige-like anchor protein

Summary

Cytogenetic location
4q31.3
Coordinates
Chromosome 4: 150,264,435–151,015,284 (GRCh38)
Exons
57 exons across 750.9 kb
Protein
2,852 amino acids
Inheritance
Autosomal recessive
Also known as
BGL, LAB300, LBA, uc.147
Previous symbols
CDC4L
MANE Select transcript
ENST00000651943.2NM_001364905.1
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated reports relevant to this gene

  • Common Variable Immunodeficiency (Monogenic CVID)

    • Common variable immunodeficiency

      Low IgG with low IgA and/or IgM and poor vaccine responses; single-gene forms include NFKB1, NFKB2, ICOS, CD19, CD81, CR2, IKZF1, IRF2BP2, SEC61A1 and TNFRSF13B (TACI).

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

      Immunoglobulin replacement and early treatment of infections are standard; a genetic cause can guide monitoring for autoimmunity, lymphoma and lung disease, and some forms (such as LRBA deficiency) respond to targeted therapy.

  • IPEX Syndrome and Other Tregopathies

    • LRBA deficiencyAutosomal recessive

      Autoimmunity, enteropathy, lymphoproliferation and antibody deficiency caused by changes in both copies of LRBA, which lowers CTLA4.

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

      Abatacept, sirolimus and stem cell transplantation are treatment options.

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
      • 5 GenCC submitters rate 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
      • 5 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

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How LRBA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where LRBA sits. LRBA and 8 genes near it on chromosome 4, from 149,513,585 to 151,766,134.Chromosome 44q31.3p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2150 Mb150.5 Mb151 Mb151.5 MbIQCM: 149,351,709–149,896,233, reverse strandIQCMDCLK2: 150,078,084–150,257,457, forward strandDCLK2LRBA: 150,264,435–151,015,284, reverse strandLRBAMAB21L2: 150,582,151–150,584,693, forward strandMAB21L2RPS3A: 151,099,564–151,104,652, forward strandRPS3ASH3D19: 151,102,751–151,409,365, reverse strandSH3D19PRSS48: 151,277,161–151,291,862, forward strandPRSS48FHIP1A: 151,409,118–151,670,503, forward strandFHIP1AGATB: 151,670,053–151,761,038, reverse strandGATBDiagram of LRBA: 57 exons on the reverse strand of chromosome 4Exon 56: 2 known disease-causing sitesExon 55: 4 known disease-causing sitesExon 54: 1 known disease-causing siteExon 53: 2 known disease-causing sitesExon 52: 2 known disease-causing sitesExon 50: 2 known disease-causing sitesExon 49: 4 known disease-causing sitesExon 48: 2 known disease-causing sitesExon 46: 4 known disease-causing sitesExon 45: 1 known disease-causing siteExon 44: 2 known disease-causing sitesExon 43: 3 known disease-causing sitesExon 42: 1 known disease-causing siteExon 41: 1 known disease-causing siteExon 40: 5 known disease-causing sitesExon 38: 3 known disease-causing sitesExon 37: 3 known disease-causing sitesExon 36: 1 known disease-causing siteExon 35: 2 known disease-causing sitesExon 34: 1 known disease-causing siteExon 33: 1 known disease-causing siteExon 31: 2 known disease-causing sitesExon 30: 9 known disease-causing sitesExon 28: 2 known disease-causing sitesExon 26: 2 known disease-causing sitesExon 25: 2 known disease-causing sitesExon 24: 3 known disease-causing sitesExon 23: 11 known disease-causing sitesExon 22: 7 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 20: 2 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 17: 1 known disease-causing siteExon 15: 3 known disease-causing sitesExon 14: 1 known disease-causing siteExon 13: 3 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 57: 150,264,435–150,265,812, 1,378 basesExon 56: 150,277,853–150,278,004, 152 basesExon 55: 150,282,450–150,282,646, 197 basesExon 54: 150,285,933–150,286,034, 102 basesExon 53: 150,302,625–150,302,792, 168 basesExon 52: 150,310,229–150,310,384, 156 basesExon 51: 150,315,561–150,315,623, 63 basesExon 50: 150,321,191–150,321,368, 178 basesExon 49: 150,325,809–150,325,898, 90 basesExon 48: 150,349,992–150,350,159, 168 basesExon 47: 150,415,438–150,415,590, 153 basesExon 46: 150,435,589–150,435,708, 120 basesExon 45: 150,436,724–150,436,864, 141 basesExon 44: 150,467,673–150,467,785, 113 basesExon 43: 150,471,624–150,471,739, 116 basesExon 42: 150,487,732–150,487,834, 103 basesExon 41: 150,490,918–150,491,035, 118 basesExon 40: 150,588,048–150,588,184, 137 basesExon 39: 150,590,713–150,590,859, 147 basesExon 38: 150,599,007–150,599,131, 125 basesExon 37: 150,683,551–150,683,717, 167 basesExon 36: 150,735,258–150,735,366, 109 basesExon 35: 150,761,783–150,761,847, 65 basesExon 34: 150,798,081–150,798,142, 62 basesExon 33: 150,806,271–150,806,404, 134 basesExon 32: 150,808,320–150,808,398, 79 basesExon 31: 150,817,124–150,817,257, 134 basesExon 30: 150,828,180–150,828,621, 442 basesExon 29: 150,831,817–150,831,976, 160 basesExon 28: 150,844,100–150,844,207, 108 basesExon 27: 150,844,658–150,844,779, 122 basesExon 26: 150,848,818–150,848,998, 181 basesExon 25: 150,849,422–150,849,575, 154 basesExon 24: 150,850,724–150,850,902, 179 basesExon 23: 150,851,885–150,852,943, 1,059 basesExon 22: 150,867,671–150,867,863, 193 basesExon 21: 150,868,182–150,868,305, 124 basesExon 20: 150,870,525–150,870,606, 82 basesExon 19: 150,871,345–150,871,453, 109 basesExon 18: 150,872,663–150,872,755, 93 basesExon 17: 150,893,052–150,893,149, 98 basesExon 16: 150,896,394–150,896,456, 63 basesExon 15: 150,897,739–150,897,818, 80 basesExon 14: 150,900,049–150,900,217, 169 basesExon 13: 150,905,838–150,905,990, 153 basesExon 12: 150,906,297–150,906,405, 109 basesExon 11: 150,908,334–150,908,467, 134 basesExon 10: 150,908,660–150,908,857, 198 basesExon 9: 150,914,195–150,914,341, 147 basesExon 8: 150,915,608–150,915,727, 120 basesExon 7: 150,916,401–150,916,527, 127 basesExon 6: 150,916,617–150,916,738, 122 basesExon 5: 150,921,198–150,921,293, 96 basesExon 4: 150,928,516–150,928,616, 101 basesExon 3: 150,928,834–150,929,065, 232 basesExon 2: 151,014,427–151,014,861, 435 basesExon 1: 151,015,202–151,015,284, 83 bases57504030201015′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 10.1 kb of the gene's 750.9 kb; 8,559 of those bases code for the protein.

How a genome test reads LRBA

151

positions in LRBA 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 750.9 kb of LRBA, introns included, not only the 10.1 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.). LRBA gene: LPS responsive beige-like anchor protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/lrba

Vancouver

Dante Labs. LRBA gene: LPS responsive beige-like anchor protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lrba

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