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Gene

NBEAL2

neurobeachin like 2

Summary

Cytogenetic location
3p21.31
Coordinates
Chromosome 3: 46,979,666–47,009,701 (GRCh38)
Exons
54 exons across 30 kb
Protein
2,754 amino acids
Inheritance
Autosomal recessive
Also known as
KIAA0540
MANE Select transcript
ENST00000450053.8NM_015175.3
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

  • Inherited Platelet Function Disorders

    • Gray Platelet SyndromeAutosomal recessive

      A recessive disorder caused by changes in NBEAL2, in which platelets lack their storage granules, leading to large platelets, low platelet counts, bleeding and, over time, scarring of the bone marrow and an enlarged spleen.

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

      Knowing about it prompts monitoring for bone marrow scarring and avoidance of medicines that affect platelet function.

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

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

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

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 NBEAL2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where NBEAL2 sits. NBEAL2 and 18 genes near it on chromosome 3, from 46,494,684 to 47,494,683.Chromosome 33p21.31p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2946.6 Mb46.8 Mb47 Mb47.2 Mb47.4 MbRTP3: 46,494,611–46,501,506, forward strandRTP3LRRC2: 46,510,358–46,607,097, reverse strandLRRC2CRIPTO: 46,573,633–46,584,684, forward strandCRIPTO: 46,581,150–46,617,226, forward strandFAM240A: 46,612,525–46,626,543, forward strandFAM240AALS2CL: 46,668,994–46,694,071, reverse strandALS2CLTMIE: 46,694,528–46,710,886, forward strandTMIE: 46,712,115–46,812,574, reverse strandPRSS50: 46,712,117–46,717,869, reverse strandPRSS50MYL3: 46,835,109–46,885,911, reverse strandMYL3PTH1R: 46,877,706–46,903,799, forward strandPTH1RCCDC12: 46,916,634–46,982,010, reverse strandCCDC12NBEAL2: 46,979,666–47,009,701, forward strandNBEAL2SETD2: 47,016,428–47,164,148, reverse strandSETD2KIF9: 47,227,426–47,283,451, reverse strandKIF9KLHL18: 47,282,628–47,346,819, forward strandKLHL18PTPN23: 47,381,011–47,413,442, forward strandPTPN23SCAP: 47,413,681–47,477,126, reverse strandSCAPELP6: 47,490,710–47,513,738, reverse strandELP6Diagram of NBEAL2: 54 exons on the forward strand of chromosome 3Exon 7: 1 known disease-causing siteExon 13: 6 known disease-causing sitesExon 15: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 26: 2 known disease-causing sitesExon 27: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 31: 3 known disease-causing sitesExon 34: 1 known disease-causing siteExon 35: 1 known disease-causing siteExon 36: 1 known disease-causing siteExon 37: 1 known disease-causing siteExon 39: 1 known disease-causing siteExon 40: 2 known disease-causing sitesExon 41: 2 known disease-causing sitesExon 43: 2 known disease-causing sitesExon 46: 1 known disease-causing siteExon 47: 1 known disease-causing siteExon 48: 3 known disease-causing sitesExon 51: 1 known disease-causing siteExon 1: 46,979,666–46,979,912, 247 basesExon 2: 46,988,669–46,988,757, 89 basesExon 3: 46,988,842–46,988,970, 129 basesExon 4: 46,989,085–46,989,166, 82 basesExon 5: 46,989,260–46,989,381, 122 basesExon 6: 46,989,511–46,989,593, 83 basesExon 7: 46,991,219–46,991,304, 86 basesExon 8: 46,991,406–46,991,688, 283 basesExon 9: 46,991,840–46,991,946, 107 basesExon 10: 46,992,475–46,992,555, 81 basesExon 11: 46,993,937–46,994,020, 84 basesExon 12: 46,994,455–46,994,553, 99 basesExon 13: 46,995,032–46,995,633, 602 basesExon 14: 46,995,714–46,995,846, 133 basesExon 15: 46,995,932–46,996,051, 120 basesExon 16: 46,996,271–46,996,592, 322 basesExon 17: 46,996,751–46,996,833, 83 basesExon 18: 46,996,954–46,997,046, 93 basesExon 19: 46,997,259–46,997,433, 175 basesExon 20: 46,997,561–46,997,694, 134 basesExon 21: 46,998,067–46,998,226, 160 basesExon 22: 46,998,463–46,998,565, 103 basesExon 23: 46,998,717–46,998,879, 163 basesExon 24: 46,998,959–46,999,117, 159 basesExon 25: 46,999,315–46,999,474, 160 basesExon 26: 46,999,630–46,999,715, 86 basesExon 27: 46,999,889–47,000,404, 516 basesExon 28: 47,001,001–47,001,179, 179 basesExon 29: 47,001,279–47,001,438, 160 basesExon 30: 47,001,689–47,001,826, 138 basesExon 31: 47,001,920–47,002,288, 369 basesExon 32: 47,002,371–47,002,520, 150 basesExon 33: 47,002,645–47,002,802, 158 basesExon 34: 47,002,957–47,003,081, 125 basesExon 35: 47,003,174–47,003,309, 136 basesExon 36: 47,003,816–47,003,976, 161 basesExon 37: 47,004,077–47,004,393, 317 basesExon 38: 47,004,495–47,004,590, 96 basesExon 39: 47,004,972–47,005,096, 125 basesExon 40: 47,005,181–47,005,321, 141 basesExon 41: 47,005,489–47,005,619, 131 basesExon 42: 47,005,738–47,005,847, 110 basesExon 43: 47,005,946–47,006,063, 118 basesExon 44: 47,006,165–47,006,262, 98 basesExon 45: 47,006,333–47,006,449, 117 basesExon 46: 47,007,066–47,007,155, 90 basesExon 47: 47,007,241–47,007,350, 110 basesExon 48: 47,007,525–47,007,697, 173 basesExon 49: 47,007,816–47,007,910, 95 basesExon 50: 47,008,070–47,008,186, 117 basesExon 51: 47,008,283–47,008,441, 159 basesExon 52: 47,008,520–47,008,668, 149 basesExon 53: 47,008,989–47,009,124, 136 basesExon 54: 47,009,219–47,009,701, 483 bases15101520253035404550545′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 8.8 kb of the gene's 30 kb; 8,265 of those bases code for the protein.

How a genome test reads NBEAL2

45

positions in NBEAL2 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 30 kb of NBEAL2, introns included, not only the 8.8 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.). NBEAL2 gene: neurobeachin like 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/nbeal2

Vancouver

Dante Labs. NBEAL2 gene: neurobeachin like 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nbeal2

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