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Gene

XYLT2

xylosyltransferase 2

Summary

Cytogenetic location
17q21.33
Coordinates
Chromosome 17: 50,346,126–50,361,185 (GRCh38)
Exons
11 exons across 15.1 kb
Protein
865 amino acids
Inheritance
Autosomal recessive
Also known as
XT-II, PXYLT2
MANE Select transcript
ENST00000017003.7NM_022167.4
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

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

  • Vitreoretinopathy

    • Spondylo-Ocular SyndromeAutosomal recessive

      Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

      • 3 GenCC submitters rate it definitive or strong

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 XYLT2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where XYLT2 sits. XYLT2 and 24 genes near it on chromosome 17, from 49,853,656 to 50,853,655.Chromosome 1717q21.33p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.350 Mb50.2 Mb50.4 Mb50.6 Mb50.8 MbDLX4: 49,968,588–49,974,959, forward strandDLX4DLX3: 49,990,005–49,995,224, reverse strandDLX3ITGA3: 50,055,968–50,090,933, forward strandITGA3PDK2: 50,094,737–50,120,276, forward strandPDK2SAMD14: 50,110,040–50,130,160, reverse strandSAMD14PPP1R9B: 50,133,732–50,151,020, reverse strandPPP1R9BSGCA: 50,164,214–50,175,935, forward strandSGCACOL1A1: 50,184,101–50,201,704, reverse strandCOL1A1TMEM92: 50,271,406–50,281,916, forward strandTMEM92XYLT2: 50,346,126–50,361,185, forward strandXYLT2MRPL27: 50,367,293–50,373,207, reverse strandMRPL27EME1: 50,373,215–50,383,858, forward strandEME1LRRC59: 50,375,059–50,398,227, reverse strandLRRC59ACSF2: 50,426,158–50,474,845, forward strandACSF2CHAD: 50,464,478–50,468,976, reverse strandCHADRSAD1: 50,478,770–50,486,371, forward strandRSAD1MYCBPAP: 50,508,409–50,531,501, forward strandMYCBPAPEPN3: 50,532,543–50,543,750, forward strandEPN3SPATA20: 50,543,058–50,558,366, forward strandSPATA20CACNA1G: 50,560,715–50,627,474, forward strandCACNA1GABCC3: 50,634,609–50,692,631, forward strandABCC3ANKRD40: 50,693,197–50,707,920, reverse strandANKRD40LUC7L3: 50,719,565–50,756,219, forward strandLUC7L3ANKRD40CL: 50,760,960–50,767,570, reverse strandANKRD40CLWFIKKN2: 50,834,650–50,842,353, forward strandWFIKKN2Diagram of XYLT2: 11 exons on the forward strand of chromosome 17Exon 8: 4 known disease-causing sitesExon 1: 50,346,126–50,346,275, 150 basesExon 2: 50,353,630–50,354,122, 493 basesExon 3: 50,354,408–50,354,583, 176 basesExon 4: 50,354,854–50,355,056, 203 basesExon 5: 50,355,501–50,355,581, 81 basesExon 6: 50,355,781–50,355,997, 217 basesExon 7: 50,356,085–50,356,261, 177 basesExon 8: 50,356,511–50,356,773, 263 basesExon 9: 50,357,057–50,357,252, 196 basesExon 10: 50,358,207–50,358,540, 334 basesExon 11: 50,359,969–50,361,185, 1,217 bases12345678910115′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 3.5 kb of the gene's 15.1 kb; 2,598 of those bases code for the protein.

How a genome test reads XYLT2

4

positions in XYLT2 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 15.1 kb of XYLT2, introns included, not only the 3.5 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.). XYLT2 gene: xylosyltransferase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/xylt2

Vancouver

Dante Labs. XYLT2 gene: xylosyltransferase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/xylt2

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