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Gene

SPTBN4

spectrin beta, non-erythrocytic 4

Summary

Cytogenetic location
19q13.2
Coordinates
Chromosome 19: 40,467,001–40,576,464 (GRCh38)
Exons
36 exons across 109.5 kb
Protein
2,564 amino acids
Also known as
SPTBN3, KIAA1642
MANE Select transcript
ENST00000598249.6NM_020971.3
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 SPTBN4 yet. The test sequences your whole genome, so your data includes it all the same.

How SPTBN4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where SPTBN4 sits. SPTBN4 and 29 genes near it on chromosome 19, from 40,021,733 to 41,021,732.Chromosome 1919q13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4340.2 Mb40.4 Mb40.6 Mb40.8 Mb41 MbZNF780B: 40,023,079–40,056,305, reverse strandZNF780BZNF780A: 40,069,152–40,091,140, reverse strandZNF780AMAP3K10: 40,191,412–40,215,579, forward strandMAP3K10TTC9B: 40,216,058–40,218,521, reverse strandTTC9BCCNP: 40,222,208–40,226,697, reverse strandCCNPAKT2: 40,230,317–40,285,536, reverse strandAKT2C19orf47: 40,294,427–40,348,547, reverse strandC19orf47PLD3: 40,348,453–40,389,472, forward strandPLD3HIPK4: 40,379,271–40,390,181, reverse strandHIPK4PRX: 40,393,764–40,415,070, reverse strandPRXSERTAD1: 40,421,589–40,426,001, reverse strandSERTAD1SERTAD3: 40,440,642–40,445,114, reverse strandSERTAD3BLVRB: 40,446,758–40,465,826, reverse strandBLVRBSPTBN4: 40,467,001–40,576,464, forward strandSPTBN4SHKBP1: 40,576,844–40,591,399, forward strandSHKBP1LTBP4: 40,592,883–40,629,821, forward strandLTBP4NUMBL: 40,665,905–40,690,972, reverse strandNUMBLCOQ8B: 40,691,514–40,725,784, reverse strandCOQ8BITPKC: 40,716,964–40,740,860, forward strandITPKCACTMAP: 40,740,856–40,751,813, reverse strandACTMAPSNRPA: 40,750,585–40,765,393, forward strandSNRPAMIA: 40,768,997–40,777,490, forward strandMIAMIA-RAB4B: 40,771,648–40,796,943, forward strandRAB4B: 40,778,191–40,798,690, forward strandRAB4BRAB4B-EGLN2: 40,778,242–40,808,418, forward strandEGLN2: 40,798,996–40,857,708, forward strandEGLN2: 40,801,297–40,898,282, forward strandCYP2A6: 40,841,915–40,850,493, reverse strandCYP2A6CYP2A7: 40,873,525–40,882,752, reverse strandCYP2A7CYP2B6: 40,991,131–41,018,413, forward strandCYP2B6Diagram of SPTBN4: 36 exons on the forward strand of chromosome 19Exon 7: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 14: 6 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 24: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 31: 1 known disease-causing siteExon 33: 1 known disease-causing siteExon 1: 40,467,001–40,467,305, 305 basesExon 2: 40,472,607–40,472,790, 184 basesExon 3: 40,487,697–40,487,848, 152 basesExon 4: 40,490,075–40,490,248, 174 basesExon 5: 40,492,963–40,493,054, 92 basesExon 6: 40,494,897–40,494,977, 81 basesExon 7: 40,497,489–40,497,604, 116 basesExon 8: 40,501,921–40,502,033, 113 basesExon 9: 40,502,128–40,502,315, 188 basesExon 10: 40,502,390–40,502,507, 118 basesExon 11: 40,502,775–40,502,933, 159 basesExon 12: 40,503,830–40,504,132, 303 basesExon 13: 40,506,236–40,506,386, 151 basesExon 14: 40,512,606–40,513,554, 949 basesExon 15: 40,515,311–40,515,448, 138 basesExon 16: 40,519,401–40,520,151, 751 basesExon 17: 40,523,437–40,523,639, 203 basesExon 18: 40,529,041–40,529,131, 91 basesExon 19: 40,532,625–40,532,771, 147 basesExon 20: 40,534,080–40,534,343, 264 basesExon 21: 40,549,189–40,549,413, 225 basesExon 22: 40,550,238–40,550,327, 90 basesExon 23: 40,554,147–40,554,425, 279 basesExon 24: 40,554,516–40,554,646, 131 basesExon 25: 40,556,084–40,556,288, 205 basesExon 26: 40,557,023–40,557,403, 381 basesExon 27: 40,560,159–40,560,403, 245 basesExon 28: 40,565,423–40,565,561, 139 basesExon 29: 40,565,661–40,565,745, 85 basesExon 30: 40,566,163–40,566,359, 197 basesExon 31: 40,567,663–40,568,282, 620 basesExon 32: 40,569,657–40,569,726, 70 basesExon 33: 40,570,436–40,570,728, 293 basesExon 34: 40,572,019–40,572,192, 174 basesExon 35: 40,572,338–40,572,380, 43 basesExon 36: 40,575,411–40,576,464, 1,054 bases15101520253035365′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 8.9 kb of the gene's 109.5 kb; 7,695 of those bases code for the protein.

How a genome test reads SPTBN4

21

positions in SPTBN4 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 109.5 kb of SPTBN4, introns included, not only the 8.9 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.). SPTBN4 gene: spectrin beta, non-erythrocytic 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/sptbn4

Vancouver

Dante Labs. SPTBN4 gene: spectrin beta, non-erythrocytic 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sptbn4

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