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Gene

EXTL3

exostosin like glycosyltransferase 3

Summary

Cytogenetic location
8p21.1
Coordinates
Chromosome 8: 28,701,501–28,755,599 (GRCh38)
Exons
7 exons across 54.1 kb
Protein
919 amino acids
Also known as
botv, REGR
MANE Select transcript
ENST00000220562.9NM_001440.4
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 EXTL3 yet. The test sequences your whole genome, so your data includes it all the same.

How EXTL3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where EXTL3 sits. EXTL3 and 7 genes near it on chromosome 8, from 28,228,550 to 29,228,549.Chromosome 88p21.1p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.328.4 Mb28.6 Mb28.8 Mb29 Mb29.2 MbPNOC: 28,316,980–28,343,373, forward strandPNOCZNF395: 28,345,590–28,402,701, reverse strandZNF395FBXO16: 28,348,287–28,490,315, reverse strandFBXO16FZD3: 28,493,991–28,574,267, forward strandFZD3EXTL3: 28,701,501–28,755,599, forward strandEXTL3INTS9: 28,760,943–28,890,271, reverse strandINTS9HMBOX1: 28,890,292–29,064,764, forward strandHMBOX1KIF13B: 29,067,278–29,263,124, reverse strandKIF13BDiagram of EXTL3: 7 exons on the forward strand of chromosome 8Exon 3: 2 known disease-causing sitesExon 1: 28,701,501–28,701,659, 159 basesExon 2: 28,713,457–28,713,550, 94 basesExon 3: 28,715,585–28,718,207, 2,623 basesExon 4: 28,731,223–28,731,350, 128 basesExon 5: 28,737,519–28,737,663, 145 basesExon 6: 28,743,086–28,743,214, 129 basesExon 7: 28,750,657–28,755,599, 4,943 bases12345675′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 8.2 kb of the gene's 54.1 kb; 2,760 of those bases code for the protein.

How a genome test reads EXTL3

2

positions in EXTL3 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 54.1 kb of EXTL3, introns included, not only the 8.2 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.). EXTL3 gene: exostosin like glycosyltransferase 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/extl3

Vancouver

Dante Labs. EXTL3 gene: exostosin like glycosyltransferase 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/extl3

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