Gene
PTPN2
protein tyrosine phosphatase non-receptor type 2
- HGNC 9650↗(opens in a new tab)
- Ensembl gene ENSG00000175354↗(opens in a new tab)
- NCBI Gene 5771↗(opens in a new tab)
Summary
- Cytogenetic location
- 18p11.21
- Coordinates
- Chromosome 18: 12,792,152–12,884,237 (GRCh38)
- Exons
- 9 exons across 92.1 kb
- Protein
- 415 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- TCELLPTP, TC-PTP, TCPTP, TC45, TC48
- Previous symbols
- PTPT
- MANE Select transcript
- ENST00000309660.10NM_002828.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Rare Monogenic Autoinflammatory Diseases
- PTPN2-related autoinflammation and autoimmunityAutosomal dominant
Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How PTPN2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
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 92.1 kb; 1,248 of those bases code for the protein.
Genes linked to the same conditions
- ACP5acid phosphatase 5, tartrate resistantShares 1 condition
- ADA2adenosine deaminase 2Shares 1 condition
- ADARadenosine deaminase RNA specificShares 1 condition
- COPAcoat protein complex I subunit alphaShares 1 condition
- IFIH1interferon induced with helicase C domain 1Shares 1 condition
- POLA1DNA polymerase alpha 1, catalytic subunitShares 1 condition
- POMPproteasome maturation proteinShares 1 condition
- PSMB10proteasome 20S subunit beta 10Shares 1 condition
- PSMB8proteasome 20S subunit beta 8Shares 1 condition
- PSMB9proteasome 20S subunit beta 9Shares 1 condition
- RIGIRNA sensor RIG-IShares 1 condition
- RNASEH2Aribonuclease H2 subunit AShares 1 condition
Traits linked to PTPN2
The Human Phenotype Ontology lists these as features of the rare conditions PTPN2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). PTPN2 gene: protein tyrosine phosphatase non-receptor type 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/ptpn2
Dante Labs. PTPN2 gene: protein tyrosine phosphatase non-receptor type 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ptpn2
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