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Gene

NT5E

5'-nucleotidase ecto

Summary

Cytogenetic location
6q14.3
Coordinates
Chromosome 6: 85,450,083–85,495,784 (GRCh38)
Exons
9 exons across 45.7 kb
Protein
574 amino acids
Inheritance
Autosomal recessive
Also known as
CD73, eN, eNT, CALJA
Previous symbols
NT5
MANE Select transcript
ENST00000257770.8NM_002526.4
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 report relevant to this gene

  • Hereditary Arterial Calcification

    • Arterial Calcification due to CD73 DeficiencyAutosomal recessive

      A condition caused by changes in NT5E that causes calcification of the leg arteries and the joints of the hands and feet from early adulthood.

      • 2 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 NT5E 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 NT5E sits. NT5E and 3 genes near it on chromosome 6, from 84,972,934 to 85,972,933.Chromosome 66q14.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2785 Mb85.2 Mb85.4 Mb85.6 Mb85.8 MbNT5E: 85,450,083–85,495,784, forward strandNT5ESNX14: 85,504,776–85,594,156, reverse strandSNX14: 85,504,776–85,678,733, reverse strandSYNCRIP: 85,607,390–85,644,063, reverse strandSYNCRIPDiagram of NT5E: 9 exons on the forward strand of chromosome 6Exon 9: 1 known disease-causing siteExon 1: 85,450,083–85,450,478, 396 basesExon 2: 85,467,060–85,467,282, 223 basesExon 3: 85,471,237–85,471,425, 189 basesExon 4: 85,485,235–85,485,432, 198 basesExon 5: 85,487,335–85,487,489, 155 basesExon 6: 85,489,494–85,489,599, 106 basesExon 7: 85,490,508–85,490,657, 150 basesExon 8: 85,491,977–85,492,177, 201 basesExon 9: 85,493,841–85,495,784, 1,944 bases1234567895′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 3.6 kb of the gene's 45.7 kb; 1,725 of those bases code for the protein.

How a genome test reads NT5E

2

positions in NT5E 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 45.7 kb of NT5E, introns included, not only the 3.6 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.). NT5E gene: 5'-nucleotidase ecto. Retrieved 16 October 2026, from https://dantelabs.com/genes/nt5e

Vancouver

Dante Labs. NT5E gene: 5'-nucleotidase ecto [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nt5e

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