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Gene

NEB

nebulin

Summary

Cytogenetic location
2q23.3
Coordinates
Chromosome 2: 151,485,339–151,734,476 (GRCh38)
Exons
182 exons across 249.1 kb
Protein
8,525 amino acids
Also known as
NEB177D
Previous symbols
NEM2
MANE Select transcript
ENST00000397345.8NM_001164508.2
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated report relevant to this gene

  • Congenital Myopathies

    • Nemaline myopathy

      A congenital myopathy defined by rod-shaped structures in muscle fibers, most often caused by NEB or ACTA1 variants.

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

How NEB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 2, with a bracket where NEB sits. NEB and 7 genes near it on chromosome 2, from 151,109,908 to 152,109,907.Chromosome 22q23.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3151.2 Mb151.4 Mb151.6 Mb151.8 Mb152 MbRBM43: 151,247,940–151,261,870, reverse strandRBM43NMI: 151,270,467–151,289,921, reverse strandNMITNFAIP6: 151,357,585–151,380,931, forward strandTNFAIP6RIF1: 151,409,883–151,508,013, forward strandRIF1NEB: 151,485,339–151,734,476, reverse strandNEBARL5A: 151,766,233–151,828,531, reverse strandARL5A: 151,802,651–151,973,949, reverse strandCACNB4: 151,832,771–152,099,182, reverse strandCACNB4Diagram of NEB: 182 exons on the reverse strand of chromosome 2Exon 182: 2 known disease-causing sitesExon 181: 4 known disease-causing sitesExon 180: 16 known disease-causing sitesExon 179: 7 known disease-causing sitesExon 178: 15 known disease-causing sitesExon 177: 4 known disease-causing sitesExon 176: 9 known disease-causing sitesExon 175: 14 known disease-causing sitesExon 174: 11 known disease-causing sitesExon 173: 10 known disease-causing sitesExon 172: 15 known disease-causing sitesExon 171: 17 known disease-causing sitesExon 170: 12 known disease-causing sitesExon 169: 12 known disease-causing sitesExon 168: 15 known disease-causing sitesExon 167: 11 known disease-causing sitesExon 166: 6 known disease-causing sitesExon 165: 3 known disease-causing sitesExon 164: 5 known disease-causing sitesExon 163: 16 known disease-causing sitesExon 162: 10 known disease-causing sitesExon 161: 8 known disease-causing sitesExon 160: 12 known disease-causing sitesExon 159: 7 known disease-causing sitesExon 158: 10 known disease-causing sitesExon 157: 12 known disease-causing sitesExon 156: 11 known disease-causing sitesExon 155: 11 known disease-causing sitesExon 154: 8 known disease-causing sitesExon 153: 8 known disease-causing sitesExon 152: 9 known disease-causing sitesExon 151: 8 known disease-causing sitesExon 150: 7 known disease-causing sitesExon 149: 14 known disease-causing sitesExon 148: 4 known disease-causing sitesExon 147: 8 known disease-causing sitesExon 146: 4 known disease-causing sitesExon 145: 2 known disease-causing sitesExon 144: 6 known disease-causing sitesExon 143: 4 known disease-causing sitesExon 142: 5 known disease-causing sitesExon 141: 9 known disease-causing sitesExon 140: 9 known disease-causing sitesExon 139: 11 known disease-causing sitesExon 138: 7 known disease-causing sitesExon 137: 5 known disease-causing sitesExon 136: 9 known disease-causing sitesExon 135: 6 known disease-causing sitesExon 134: 7 known disease-causing sitesExon 133: 7 known disease-causing sitesExon 132: 6 known disease-causing sitesExon 131: 5 known disease-causing sitesExon 130: 7 known disease-causing sitesExon 129: 11 known disease-causing sitesExon 128: 6 known disease-causing sitesExon 127: 4 known disease-causing sitesExon 126: 5 known disease-causing sitesExon 125: 7 known disease-causing sitesExon 124: 7 known disease-causing sitesExon 123: 4 known disease-causing sitesExon 122: 8 known disease-causing sitesExon 121: 7 known disease-causing sitesExon 120: 20 known disease-causing sitesExon 119: 9 known disease-causing sitesExon 118: 3 known disease-causing sitesExon 117: 7 known disease-causing sitesExon 116: 3 known disease-causing sitesExon 115: 5 known disease-causing sitesExon 114: 10 known disease-causing sitesExon 113: 6 known disease-causing sitesExon 112: 4 known disease-causing sitesExon 111: 2 known disease-causing sitesExon 110: 3 known disease-causing sitesExon 109: 18 known disease-causing sitesExon 108: 3 known disease-causing sitesExon 107: 4 known disease-causing sitesExon 106: 7 known disease-causing sitesExon 105: 4 known disease-causing sitesExon 104: 1 known disease-causing siteExon 103: 4 known disease-causing sitesExon 96: 1 known disease-causing siteExon 95: 6 known disease-causing sitesExon 89: 25 known disease-causing sitesExon 88: 16 known disease-causing sitesExon 87: 11 known disease-causing sitesExon 86: 25 known disease-causing sitesExon 85: 13 known disease-causing sitesExon 84: 13 known disease-causing sitesExon 83: 7 known disease-causing sitesExon 82: 14 known disease-causing sitesExon 81: 14 known disease-causing sitesExon 80: 5 known disease-causing sitesExon 79: 4 known disease-causing sitesExon 78: 9 known disease-causing sitesExon 77: 18 known disease-causing sitesExon 76: 5 known disease-causing sitesExon 75: 3 known disease-causing sitesExon 74: 11 known disease-causing sitesExon 73: 16 known disease-causing sitesExon 72: 6 known disease-causing sitesExon 71: 6 known disease-causing sitesExon 70: 12 known disease-causing sitesExon 69: 11 known disease-causing sitesExon 68: 10 known disease-causing sitesExon 67: 5 known disease-causing sitesExon 66: 13 known disease-causing sitesExon 65: 12 known disease-causing sitesExon 64: 3 known disease-causing sitesExon 63: 1 known disease-causing siteExon 62: 11 known disease-causing sitesExon 61: 24 known disease-causing sitesExon 60: 5 known disease-causing sitesExon 59: 7 known disease-causing sitesExon 58: 15 known disease-causing sitesExon 57: 11 known disease-causing sitesExon 56: 6 known disease-causing sitesExon 55: 6 known disease-causing sitesExon 54: 6 known disease-causing sitesExon 53: 20 known disease-causing sitesExon 52: 6 known disease-causing sitesExon 51: 11 known disease-causing sitesExon 50: 20 known disease-causing sitesExon 49: 17 known disease-causing sitesExon 48: 4 known disease-causing sitesExon 47: 9 known disease-causing sitesExon 46: 10 known disease-causing sitesExon 45: 17 known disease-causing sitesExon 44: 11 known disease-causing sitesExon 43: 6 known disease-causing sitesExon 42: 13 known disease-causing sitesExon 41: 20 known disease-causing sitesExon 40: 7 known disease-causing sitesExon 39: 10 known disease-causing sitesExon 38: 11 known disease-causing sitesExon 37: 14 known disease-causing sitesExon 36: 3 known disease-causing sitesExon 35: 8 known disease-causing sitesExon 34: 10 known disease-causing sitesExon 33: 26 known disease-causing sitesExon 32: 6 known disease-causing sitesExon 31: 5 known disease-causing sitesExon 30: 6 known disease-causing sitesExon 29: 7 known disease-causing sitesExon 28: 15 known disease-causing sitesExon 27: 7 known disease-causing sitesExon 26: 5 known disease-causing sitesExon 25: 6 known disease-causing sitesExon 24: 5 known disease-causing sitesExon 23: 7 known disease-causing sitesExon 22: 9 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 20: 6 known disease-causing sitesExon 19: 3 known disease-causing sitesExon 18: 8 known disease-causing sitesExon 17: 8 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 15: 9 known disease-causing sitesExon 14: 10 known disease-causing sitesExon 13: 11 known disease-causing sitesExon 12: 9 known disease-causing sitesExon 11: 6 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 11 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 1 known disease-causing siteExon 182: 151,485,339–151,485,933, 595 basesExon 181: 151,489,971–151,490,077, 107 basesExon 180: 151,490,372–151,490,518, 147 basesExon 179: 151,491,683–151,491,775, 93 basesExon 178: 151,492,098–151,492,281, 184 basesExon 177: 151,492,387–151,492,494, 108 basesExon 176: 151,493,353–151,493,445, 93 basesExon 175: 151,493,775–151,493,867, 93 basesExon 174: 151,494,161–151,494,253, 93 basesExon 173: 151,496,276–151,496,368, 93 basesExon 172: 151,496,941–151,497,033, 93 basesExon 171: 151,497,626–151,497,718, 93 basesExon 170: 151,498,260–151,498,352, 93 basesExon 169: 151,499,298–151,499,390, 93 basesExon 168: 151,501,391–151,501,483, 93 bases. 1 variant with a page in exon 168. List themExon 167: 151,502,793–151,502,885, 93 basesExon 166: 151,503,349–151,503,441, 93 basesExon 165: 151,505,478–151,505,570, 93 basesExon 164: 151,506,166–151,506,258, 93 basesExon 163: 151,506,909–151,507,013, 105 basesExon 162: 151,508,005–151,508,109, 105 basesExon 161: 151,512,733–151,512,837, 105 basesExon 160: 151,513,580–151,513,693, 114 basesExon 159: 151,514,318–151,514,428, 111 basesExon 158: 151,514,818–151,514,928, 111 basesExon 157: 151,516,459–151,516,563, 105 basesExon 156: 151,518,318–151,518,422, 105 basesExon 155: 151,518,965–151,519,069, 105 basesExon 154: 151,519,658–151,519,768, 111 basesExon 153: 151,524,311–151,524,415, 105 basesExon 152: 151,524,515–151,524,616, 102 basesExon 151: 151,525,163–151,525,273, 111 basesExon 150: 151,525,958–151,526,068, 111 bases. 1 variant with a page in exon 150. List themExon 149: 151,526,158–151,526,262, 105 basesExon 148: 151,526,918–151,527,022, 105 basesExon 147: 151,527,481–151,527,585, 105 basesExon 146: 151,529,210–151,529,314, 105 basesExon 145: 151,530,994–151,531,101, 108 basesExon 144: 151,531,792–151,531,896, 105 basesExon 143: 151,533,442–151,533,546, 105 basesExon 142: 151,535,691–151,535,795, 105 basesExon 141: 151,537,132–151,537,236, 105 basesExon 140: 151,537,872–151,537,976, 105 basesExon 139: 151,538,140–151,538,244, 105 basesExon 138: 151,540,344–151,540,448, 105 basesExon 137: 151,540,697–151,540,801, 105 basesExon 136: 151,541,447–151,541,551, 105 basesExon 135: 151,545,888–151,545,998, 111 basesExon 134: 151,546,345–151,546,443, 99 basesExon 133: 151,547,429–151,547,533, 105 basesExon 132: 151,547,634–151,547,738, 105 basesExon 131: 151,548,308–151,548,415, 108 basesExon 130: 151,549,636–151,549,740, 105 basesExon 129: 151,551,738–151,551,845, 108 bases. 1 variant with a page in exon 129. List themExon 128: 151,552,672–151,552,776, 105 basesExon 127: 151,553,398–151,553,502, 105 basesExon 126: 151,553,828–151,554,025, 198 basesExon 125: 151,554,931–151,555,044, 114 basesExon 124: 151,560,592–151,560,699, 108 basesExon 123: 151,561,004–151,561,108, 105 basesExon 122: 151,561,208–151,561,312, 105 bases. 1 variant with a page in exon 122. List themExon 121: 151,562,110–151,562,214, 105 basesExon 120: 151,562,611–151,562,808, 198 basesExon 119: 151,563,606–151,563,719, 114 basesExon 118: 151,563,823–151,563,930, 108 basesExon 117: 151,565,044–151,565,148, 105 basesExon 116: 151,565,501–151,565,605, 105 basesExon 115: 151,565,716–151,565,820, 105 basesExon 114: 151,567,168–151,567,479, 312 basesExon 113: 151,568,071–151,568,178, 108 basesExon 112: 151,568,316–151,568,417, 102 basesExon 111: 151,568,618–151,568,716, 99 basesExon 110: 151,569,268–151,569,372, 105 basesExon 109: 151,570,081–151,570,392, 312 basesExon 108: 151,570,497–151,570,601, 105 basesExon 107: 151,575,695–151,575,799, 105 basesExon 106: 151,576,151–151,576,354, 204 basesExon 105: 151,579,338–151,579,649, 312 basesExon 104: 151,580,797–151,580,904, 108 basesExon 103: 151,581,483–151,581,587, 105 basesExon 102: 151,582,464–151,582,667, 204 basesExon 101: 151,583,455–151,583,766, 312 basesExon 100: 151,585,507–151,585,614, 108 basesExon 99: 151,586,405–151,586,509, 105 basesExon 98: 151,587,374–151,587,577, 204 basesExon 97: 151,589,889–151,590,200, 312 basesExon 96: 151,591,348–151,591,455, 108 basesExon 95: 151,592,034–151,592,138, 105 basesExon 94: 151,593,016–151,593,219, 204 basesExon 93: 151,594,007–151,594,318, 312 basesExon 92: 151,596,060–151,596,167, 108 basesExon 91: 151,596,958–151,597,062, 105 basesExon 90: 151,597,927–151,598,130, 204 basesExon 89: 151,600,442–151,600,753, 312 basesExon 88: 151,601,901–151,602,008, 108 basesExon 87: 151,602,587–151,602,691, 105 basesExon 86: 151,603,569–151,603,772, 204 basesExon 85: 151,604,560–151,604,871, 312 basesExon 84: 151,606,606–151,606,713, 108 basesExon 83: 151,607,504–151,607,608, 105 basesExon 82: 151,608,473–151,608,676, 204 basesExon 81: 151,609,809–151,610,120, 312 basesExon 80: 151,610,516–151,610,623, 108 basesExon 79: 151,610,762–151,610,866, 105 basesExon 78: 151,612,186–151,612,389, 204 basesExon 77: 151,614,276–151,614,587, 312 basesExon 76: 151,616,002–151,616,109, 108 basesExon 75: 151,617,364–151,617,468, 105 basesExon 74: 151,618,275–151,618,478, 204 basesExon 73: 151,619,451–151,619,762, 312 basesExon 72: 151,620,919–151,621,026, 108 basesExon 71: 151,625,534–151,625,638, 105 basesExon 70: 151,627,002–151,627,205, 204 basesExon 69: 151,627,523–151,627,834, 312 basesExon 68: 151,629,539–151,629,646, 108 basesExon 67: 151,630,715–151,630,819, 105 basesExon 66: 151,631,143–151,631,346, 204 basesExon 65: 151,633,654–151,633,965, 312 basesExon 64: 151,636,227–151,636,334, 108 basesExon 63: 151,639,280–151,639,384, 105 basesExon 62: 151,639,857–151,640,060, 204 basesExon 61: 151,640,355–151,640,666, 312 basesExon 60: 151,642,574–151,642,681, 108 basesExon 59: 151,642,765–151,642,869, 105 basesExon 58: 151,643,150–151,643,353, 204 basesExon 57: 151,643,818–151,644,129, 312 basesExon 56: 151,644,468–151,644,575, 108 basesExon 55: 151,646,130–151,646,234, 105 basesExon 54: 151,650,176–151,650,379, 204 basesExon 53: 151,650,574–151,650,885, 312 bases. 1 variant with a page in exon 53. List themExon 52: 151,653,992–151,654,099, 108 basesExon 51: 151,655,270–151,655,374, 105 basesExon 50: 151,655,817–151,656,023, 207 basesExon 49: 151,656,153–151,656,464, 312 basesExon 48: 151,657,983–151,658,090, 108 basesExon 47: 151,659,065–151,659,169, 105 basesExon 46: 151,662,135–151,662,341, 207 basesExon 45: 151,663,548–151,663,859, 312 basesExon 44: 151,664,501–151,664,608, 108 basesExon 43: 151,664,759–151,664,863, 105 basesExon 42: 151,665,333–151,665,539, 207 basesExon 41: 151,666,090–151,666,401, 312 basesExon 40: 151,667,804–151,667,911, 108 basesExon 39: 151,669,027–151,669,131, 105 basesExon 38: 151,671,023–151,671,229, 207 basesExon 37: 151,672,369–151,672,680, 312 basesExon 36: 151,674,477–151,674,584, 108 basesExon 35: 151,675,287–151,675,391, 105 basesExon 34: 151,677,565–151,677,771, 207 basesExon 33: 151,677,876–151,678,187, 312 basesExon 32: 151,679,721–151,679,828, 108 basesExon 31: 151,679,918–151,680,022, 105 basesExon 30: 151,680,730–151,680,828, 99 basesExon 29: 151,682,662–151,682,769, 108 basesExon 28: 151,684,778–151,684,975, 198 basesExon 27: 151,687,419–151,687,532, 114 basesExon 26: 151,687,626–151,687,733, 108 basesExon 25: 151,688,292–151,688,396, 105 basesExon 24: 151,690,727–151,690,825, 99 basesExon 23: 151,691,864–151,691,968, 105 basesExon 22: 151,692,059–151,692,166, 108 basesExon 21: 151,692,261–151,692,362, 102 basesExon 20: 151,694,323–151,694,436, 114 basesExon 19: 151,694,522–151,694,629, 108 basesExon 18: 151,695,578–151,695,682, 105 basesExon 17: 151,696,637–151,696,735, 99 bases. 1 variant with a page in exon 17. List themExon 16: 151,697,148–151,697,252, 105 basesExon 15: 151,697,350–151,697,457, 108 basesExon 14: 151,697,544–151,697,648, 105 basesExon 13: 151,706,881–151,706,997, 117 basesExon 12: 151,709,656–151,709,763, 108 basesExon 11: 151,710,434–151,710,538, 105 basesExon 10: 151,717,416–151,717,520, 105 basesExon 9: 151,723,382–151,723,486, 105 basesExon 8: 151,724,260–151,724,364, 105 basesExon 7: 151,724,857–151,724,961, 105 basesExon 6: 151,725,453–151,725,560, 108 basesExon 5: 151,727,691–151,727,906, 216 basesExon 4: 151,729,615–151,729,656, 42 basesExon 3: 151,733,121–151,733,185, 65 basesExon 2: 151,733,712–151,733,795, 84 basesExon 1: 151,734,398–151,734,476, 79 bases18217515012510075502515′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 26.2 kb of the gene's 249.1 kb; 25,578 of those bases code for the protein.

How a genome test reads NEB

1,802

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

187 of them (10%) fall in regions short reads find hard.

  • Low mappability (187 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (154 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 249.1 kb of NEB, introns included, not only the 26.2 kb of exons.

Variants with a page (9)

The NEB variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
c.78+1G>AIntron 4151,729,614Pathogenic3 stars out of 4 reviewed by expert panel
c.6076-1G>TIntron 47151,658,091Likely pathogenic3 stars out of 4 reviewed by expert panel
c.11910+1G>AIntron 79151,610,761Likely pathogenic3 stars out of 4 reviewed by expert panel
c.19944G>AExon 129151,551,738Pathogenic3 stars out of 4 reviewed by expert panel
D498Gc.1493A>GExon 17151,696,713Likely pathogenic3 stars out of 4 reviewed by expert panel
R2313Xc.6937C>TExon 53151,650,864Pathogenic3 stars out of 4 reviewed by expert panel
R7997Xc.23989C>TExon 168151,501,423Likely pathogenic3 stars out of 4 reviewed by expert panel
S6366Ic.19097G>TExon 122151,561,212Pathogenic3 stars out of 4 reviewed by expert panel
T7382Pc.22144A>CExon 150151,525,975Pathogenic3 stars out of 4 reviewed by expert panel

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.). NEB gene: nebulin. Retrieved 16 October 2026, from https://dantelabs.com/genes/neb

Vancouver

Dante Labs. NEB gene: nebulin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/neb

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