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Gene

SYNE1

spectrin repeat containing nuclear envelope protein 1

Summary

Cytogenetic location
6q25.2
Coordinates
Chromosome 6: 152,121,687–152,637,362 (GRCh38)
Exons
146 exons across 515.7 kb
Protein
8,797 amino acids
Inheritance
Autosomal recessive
Also known as
SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1
Previous symbols
C6orf98
MANE Select transcript
ENST00000367255.10NM_182961.4
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

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

Broader groupings

  • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

    • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

      One of 57 genes linked to it

      A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

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

      Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

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 SYNE1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where SYNE1 sits. SYNE1 and 7 genes near it on chromosome 6, from 151,606,011 to 153,153,038.Chromosome 66q25.2p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27151.8 Mb152 Mb152.2 Mb152.4 Mb152.6 Mb152.8 Mb153 MbCCDC170: 151,493,754–151,621,193, forward strandCCDC170ESR1: 151,651,284–152,129,619, forward strandESR1SYNE1: 152,121,687–152,637,362, reverse strandSYNE1MYCT1: 152,697,889–152,724,585, forward strandMYCT1VIP: 152,746,498–152,760,674, forward strandVIPFBXO5: 152,970,519–152,983,599, reverse strandFBXO5MTRF1L: 152,987,362–153,002,802, reverse strandMTRF1LRGS17: 153,004,449–153,131,306, reverse strandRGS17Diagram of SYNE1: 146 exons on the reverse strand of chromosome 6Exon 146: 1 known disease-causing siteExon 143: 2 known disease-causing sitesExon 142: 2 known disease-causing sitesExon 141: 1 known disease-causing siteExon 140: 3 known disease-causing sitesExon 138: 3 known disease-causing sitesExon 137: 2 known disease-causing sitesExon 136: 2 known disease-causing sitesExon 134: 2 known disease-causing sitesExon 133: 2 known disease-causing sitesExon 130: 1 known disease-causing siteExon 129: 1 known disease-causing siteExon 128: 1 known disease-causing siteExon 127: 1 known disease-causing siteExon 126: 1 known disease-causing siteExon 125: 2 known disease-causing sitesExon 123: 1 known disease-causing siteExon 120: 2 known disease-causing sitesExon 119: 4 known disease-causing sitesExon 118: 1 known disease-causing siteExon 117: 1 known disease-causing siteExon 115: 2 known disease-causing sitesExon 111: 2 known disease-causing sitesExon 110: 2 known disease-causing sitesExon 109: 3 known disease-causing sitesExon 108: 2 known disease-causing sitesExon 107: 1 known disease-causing siteExon 106: 1 known disease-causing siteExon 105: 1 known disease-causing siteExon 104: 3 known disease-causing sitesExon 101: 4 known disease-causing sitesExon 99: 1 known disease-causing siteExon 98: 2 known disease-causing sitesExon 96: 2 known disease-causing sitesExon 95: 2 known disease-causing sitesExon 94: 3 known disease-causing sitesExon 93: 2 known disease-causing sitesExon 92: 1 known disease-causing siteExon 91: 2 known disease-causing sitesExon 88: 5 known disease-causing sitesExon 86: 2 known disease-causing sitesExon 84: 1 known disease-causing siteExon 83: 1 known disease-causing siteExon 82: 1 known disease-causing siteExon 81: 2 known disease-causing sitesExon 80: 1 known disease-causing siteExon 79: 2 known disease-causing sitesExon 78: 15 known disease-causing sitesExon 77: 3 known disease-causing sitesExon 75: 1 known disease-causing siteExon 73: 1 known disease-causing siteExon 72: 1 known disease-causing siteExon 70: 1 known disease-causing siteExon 67: 2 known disease-causing sitesExon 66: 1 known disease-causing siteExon 65: 1 known disease-causing siteExon 64: 1 known disease-causing siteExon 63: 1 known disease-causing siteExon 60: 1 known disease-causing siteExon 58: 2 known disease-causing sitesExon 57: 1 known disease-causing siteExon 56: 4 known disease-causing sitesExon 55: 4 known disease-causing sitesExon 54: 2 known disease-causing sitesExon 53: 1 known disease-causing siteExon 52: 2 known disease-causing sitesExon 51: 3 known disease-causing sitesExon 50: 1 known disease-causing siteExon 48: 2 known disease-causing sitesExon 47: 2 known disease-causing sitesExon 45: 1 known disease-causing siteExon 43: 2 known disease-causing sitesExon 42: 2 known disease-causing sitesExon 41: 4 known disease-causing sitesExon 39: 3 known disease-causing sitesExon 38: 2 known disease-causing sitesExon 37: 1 known disease-causing siteExon 36: 1 known disease-causing siteExon 35: 4 known disease-causing sitesExon 34: 2 known disease-causing sitesExon 32: 1 known disease-causing siteExon 31: 2 known disease-causing sitesExon 29: 2 known disease-causing sitesExon 28: 2 known disease-causing sitesExon 26: 4 known disease-causing sitesExon 25: 2 known disease-causing sitesExon 24: 1 known disease-causing siteExon 23: 2 known disease-causing sitesExon 22: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 9: 3 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 146: 152,121,687–152,122,676, 990 basesExon 145: 152,130,720–152,130,778, 59 basesExon 144: 152,132,122–152,132,214, 93 basesExon 143: 152,133,276–152,133,488, 213 basesExon 142: 152,135,104–152,135,232, 129 basesExon 141: 152,136,618–152,136,818, 201 basesExon 140: 152,139,950–152,140,161, 212 basesExon 139: 152,141,203–152,141,329, 127 basesExon 138: 152,143,623–152,143,765, 143 basesExon 137: 152,148,045–152,148,378, 334 basesExon 136: 152,149,477–152,149,668, 192 basesExon 135: 152,151,553–152,151,690, 138 basesExon 134: 152,151,959–152,152,141, 183 basesExon 133: 152,154,892–152,155,042, 151 basesExon 132: 152,155,910–152,156,097, 188 basesExon 131: 152,164,163–152,164,325, 163 basesExon 130: 152,176,394–152,176,560, 167 basesExon 129: 152,180,136–152,180,294, 159 basesExon 128: 152,189,252–152,189,407, 156 basesExon 127: 152,201,824–152,201,949, 126 basesExon 126: 152,206,168–152,206,362, 195 basesExon 125: 152,207,972–152,208,206, 235 basesExon 124: 152,211,494–152,211,588, 95 basesExon 123: 152,213,612–152,213,759, 148 basesExon 122: 152,214,906–152,215,060, 155 basesExon 121: 152,218,257–152,218,403, 147 basesExon 120: 152,219,003–152,219,185, 183 basesExon 119: 152,220,842–152,221,046, 205 basesExon 118: 152,221,426–152,221,559, 134 basesExon 117: 152,224,494–152,224,664, 171 basesExon 116: 152,225,721–152,225,876, 156 basesExon 115: 152,230,547–152,230,702, 156 basesExon 114: 152,231,391–152,231,567, 177 basesExon 113: 152,232,116–152,232,265, 150 basesExon 112: 152,233,781–152,233,963, 183 basesExon 111: 152,234,668–152,234,800, 133 basesExon 110: 152,236,107–152,236,303, 197 basesExon 109: 152,236,817–152,236,948, 132 basesExon 108: 152,239,533–152,239,706, 174 basesExon 107: 152,242,240–152,242,440, 201 basesExon 106: 152,244,537–152,244,656, 120 basesExon 105: 152,249,161–152,249,262, 102 basesExon 104: 152,254,880–152,255,089, 210 basesExon 103: 152,255,591–152,255,746, 156 basesExon 102: 152,256,634–152,256,765, 132 basesExon 101: 152,262,032–152,262,188, 157 basesExon 100: 152,268,056–152,268,165, 110 basesExon 99: 152,269,155–152,269,286, 132 basesExon 98: 152,278,089–152,278,280, 192 basesExon 97: 152,281,807–152,281,980, 174 basesExon 96: 152,283,978–152,284,172, 195 basesExon 95: 152,293,588–152,293,749, 162 basesExon 94: 152,293,960–152,294,127, 168 basesExon 93: 152,300,641–152,300,781, 141 basesExon 92: 152,301,869–152,302,063, 195 basesExon 91: 152,308,489–152,308,632, 144 basesExon 90: 152,309,835–152,310,017, 183 basesExon 89: 152,310,396–152,310,518, 123 basesExon 88: 152,310,688–152,310,873, 186 basesExon 87: 152,316,849–152,316,986, 138 basesExon 86: 152,318,081–152,318,263, 183 basesExon 85: 152,318,863–152,319,015, 153 basesExon 84: 152,321,238–152,321,390, 153 basesExon 83: 152,321,721–152,321,886, 166 basesExon 82: 152,323,478–152,323,737, 260 basesExon 81: 152,325,084–152,325,302, 219 basesExon 80: 152,325,958–152,326,102, 145 basesExon 79: 152,326,296–152,326,633, 338 basesExon 78: 152,329,730–152,331,890, 2,161 basesExon 77: 152,334,008–152,334,273, 266 basesExon 76: 152,336,841–152,337,017, 177 basesExon 75: 152,339,241–152,339,366, 126 basesExon 74: 152,344,081–152,344,227, 147 basesExon 73: 152,347,059–152,347,235, 177 basesExon 72: 152,350,168–152,350,335, 168 basesExon 71: 152,350,618–152,350,770, 153 basesExon 70: 152,352,027–152,352,353, 327 basesExon 69: 152,353,263–152,353,433, 171 basesExon 68: 152,353,589–152,353,744, 156 basesExon 67: 152,354,659–152,354,976, 318 basesExon 66: 152,358,373–152,358,537, 165 basesExon 65: 152,359,315–152,359,458, 144 basesExon 64: 152,362,170–152,362,323, 154 basesExon 63: 152,364,847–152,365,019, 173 basesExon 62: 152,367,218–152,367,382, 165 basesExon 61: 152,368,972–152,369,127, 156 basesExon 60: 152,369,471–152,369,614, 144 basesExon 59: 152,373,037–152,373,219, 183 basesExon 58: 152,376,381–152,376,558, 178 basesExon 57: 152,376,776–152,376,912, 137 basesExon 56: 152,381,006–152,381,362, 357 basesExon 55: 152,385,674–152,385,838, 165 basesExon 54: 152,387,072–152,387,381, 310 basesExon 53: 152,390,280–152,390,452, 173 basesExon 52: 152,391,277–152,391,568, 292 basesExon 51: 152,395,516–152,395,671, 156 basesExon 50: 152,396,775–152,396,980, 206 basesExon 49: 152,398,619–152,398,731, 113 basesExon 48: 152,399,616–152,399,823, 208 basesExon 47: 152,401,138–152,401,341, 204 basesExon 46: 152,404,213–152,404,314, 102 basesExon 45: 152,407,014–152,407,196, 183 basesExon 44: 152,409,068–152,409,226, 159 basesExon 43: 152,409,559–152,409,709, 151 basesExon 42: 152,413,352–152,413,531, 180 basesExon 41: 152,416,387–152,417,015, 629 basesExon 40: 152,419,569–152,419,722, 154 basesExon 39: 152,425,381–152,425,547, 167 basesExon 38: 152,427,693–152,427,816, 124 basesExon 37: 152,428,205–152,428,392, 188 basesExon 36: 152,430,112–152,430,210, 99 basesExon 35: 152,430,482–152,430,709, 228 basesExon 34: 152,433,795–152,433,945, 151 basesExon 33: 152,435,941–152,436,101, 161 basesExon 32: 152,441,130–152,441,270, 141 basesExon 31: 152,442,075–152,442,245, 171 basesExon 30: 152,444,411–152,444,578, 168 basesExon 29: 152,447,458–152,447,622, 165 basesExon 28: 152,449,533–152,449,641, 109 basesExon 27: 152,450,625–152,450,833, 209 basesExon 26: 152,451,047–152,451,205, 159 basesExon 25: 152,453,586–152,453,720, 135 basesExon 24: 152,455,426–152,455,590, 165 basesExon 23: 152,455,886–152,456,044, 159 basesExon 22: 152,458,757–152,458,930, 174 basesExon 21: 152,461,597–152,461,740, 144 basesExon 20: 152,462,738–152,462,890, 153 basesExon 19: 152,463,353–152,463,517, 165 basesExon 18: 152,465,258–152,465,460, 203 basesExon 17: 152,465,982–152,466,078, 97 basesExon 16: 152,471,597–152,471,765, 169 basesExon 15: 152,472,301–152,472,413, 113 basesExon 14: 152,483,085–152,483,249, 165 basesExon 13: 152,484,835–152,484,972, 138 basesExon 12: 152,488,396–152,488,503, 108 basesExon 11: 152,498,742–152,498,792, 51 basesExon 10: 152,502,633–152,502,742, 110 basesExon 9: 152,505,201–152,505,397, 197 basesExon 8: 152,510,193–152,510,371, 179 basesExon 7: 152,511,011–152,511,103, 93 basesExon 6: 152,520,459–152,520,542, 84 basesExon 5: 152,526,080–152,526,175, 96 basesExon 4: 152,539,960–152,540,021, 62 basesExon 3: 152,628,265–152,628,554, 290 basesExon 2: 152,636,638–152,636,805, 168 basesExon 1: 152,637,189–152,637,362, 174 bases14614013012011010090807060504030201015′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 27.7 kb of the gene's 515.7 kb; 26,394 of those bases code for the protein.

How a genome test reads SYNE1

242

positions in SYNE1 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 515.7 kb of SYNE1, introns included, not only the 27.7 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.). SYNE1 gene: spectrin repeat containing nuclear envelope protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/syne1

Vancouver

Dante Labs. SYNE1 gene: spectrin repeat containing nuclear envelope protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/syne1

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