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Gene

SPTBN1

spectrin beta, non-erythrocytic 1

Summary

Cytogenetic location
2p16.2
Coordinates
Chromosome 2: 54,456,327–54,671,446 (GRCh38)
Exons
36 exons across 215.1 kb
Protein
2,364 amino acids
MANE Select transcript
ENST00000356805.9NM_003128.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

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

Curated reports relevant to this gene

No Genome Test report reads SPTBN1 yet. The test sequences your whole genome, so your data includes it all the same.

How SPTBN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where SPTBN1 sits. SPTBN1 and 5 genes near it on chromosome 2, from 54,063,887 to 55,063,886.Chromosome 22p16.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.354.2 Mb54.4 Mb54.6 Mb54.8 Mb55 MbACYP2: 53,970,838–54,305,829, forward strandACYP2TSPYL6: 54,253,178–54,256,229, reverse strandTSPYL6CIMIP6: 54,330,034–54,384,191, forward strandCIMIP6SPTBN1: 54,456,327–54,671,446, forward strandSPTBN1EML6: 54,723,499–54,972,025, forward strandEML6RTN4: 54,971,931–55,112,621, reverse strandRTN4Diagram of SPTBN1: 36 exons on the forward strand of chromosome 2Exon 3: 2 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 16: 4 known disease-causing sitesExon 18: 2 known disease-causing sitesExon 19: 2 known disease-causing sitesExon 20: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 26: 2 known disease-causing sitesExon 28: 1 known disease-causing siteExon 31: 1 known disease-causing siteExon 1: 54,456,327–54,456,518, 192 basesExon 2: 54,526,372–54,526,566, 195 basesExon 3: 54,599,092–54,599,243, 152 basesExon 4: 54,612,161–54,612,334, 174 basesExon 5: 54,616,207–54,616,298, 92 basesExon 6: 54,617,608–54,617,688, 81 basesExon 7: 54,618,078–54,618,193, 116 basesExon 8: 54,621,400–54,621,512, 113 basesExon 9: 54,622,300–54,622,487, 188 basesExon 10: 54,623,479–54,623,596, 118 basesExon 11: 54,624,804–54,624,962, 159 basesExon 12: 54,625,932–54,626,234, 303 basesExon 13: 54,628,097–54,628,250, 154 basesExon 14: 54,628,933–54,629,803, 871 basesExon 15: 54,629,892–54,630,029, 138 basesExon 16: 54,630,855–54,631,611, 757 basesExon 17: 54,632,566–54,632,768, 203 basesExon 18: 54,637,713–54,637,803, 91 basesExon 19: 54,642,983–54,643,129, 147 basesExon 20: 54,644,323–54,644,586, 264 basesExon 21: 54,645,229–54,645,453, 225 basesExon 22: 54,645,928–54,646,017, 90 basesExon 23: 54,646,194–54,646,475, 282 basesExon 24: 54,647,131–54,647,261, 131 basesExon 25: 54,648,986–54,649,190, 205 basesExon 26: 54,649,615–54,649,989, 375 basesExon 27: 54,653,609–54,653,853, 245 basesExon 28: 54,655,070–54,655,208, 139 basesExon 29: 54,655,914–54,655,998, 85 basesExon 30: 54,657,850–54,658,046, 197 basesExon 31: 54,659,154–54,659,266, 113 basesExon 32: 54,659,936–54,659,999, 64 basesExon 33: 54,664,453–54,664,691, 239 basesExon 34: 54,665,915–54,666,088, 174 basesExon 35: 54,667,604–54,667,646, 43 basesExon 36: 54,668,351–54,671,446, 3,096 bases1102030365′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 10.2 kb of the gene's 215.1 kb; 7,095 of those bases code for the protein.

How a genome test reads SPTBN1

35

positions in SPTBN1 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 215.1 kb of SPTBN1, introns included, not only the 10.2 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.
  • 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.). SPTBN1 gene: spectrin beta, non-erythrocytic 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/sptbn1

Vancouver

Dante Labs. SPTBN1 gene: spectrin beta, non-erythrocytic 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sptbn1

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