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Gene

PATL2

PAT1 homolog 2

Summary

Cytogenetic location
15q21.1
Coordinates
Chromosome 15: 44,665,732–44,711,323 (GRCh38)
Exons
18 exons across 45.6 kb
Protein
543 amino acids
Also known as
Pat1a
MANE Select transcript
ENST00000682850.1NM_001387263.1
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

  • Female Infertility

    • inherited oocyte maturation defect
      • 2 GenCC submitters rate it definitive or strong

How PATL2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where PATL2 sits. PATL2 and 14 genes near it on chromosome 15, from 44,188,528 to 45,188,527.Chromosome 1515q21.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.344.2 Mb44.4 Mb44.6 Mb44.8 Mb45 MbFRMD5: 43,870,761–44,195,278, reverse strandFRMD5GOLM2: 44,288,699–44,415,758, forward strandGOLM2CTDSPL2: 44,427,187–44,529,038, forward strandCTDSPL2EIF3J: 44,537,055–44,564,631, forward strandEIF3JSPG11: 44,554,436–44,663,688, reverse strandSPG11PATL2: 44,665,732–44,711,323, reverse strandPATL2B2M: 44,711,253–44,718,851, forward strandB2MTRIM69: 44,728,986–44,767,829, forward strandTRIM69TERB2: 44,956,687–44,979,229, forward strandTERB2SORD: 45,023,116–45,077,185, forward strandSORDDUOX2: 45,092,650–45,114,185, reverse strandDUOX2DUOXA2: 45,114,325–45,118,421, forward strandDUOXA2DUOXA1: 45,117,364–45,130,611, reverse strandDUOXA1DUOX1: 45,129,450–45,165,576, forward strandDUOX1SHF: 45,165,572–45,201,175, reverse strandSHFDiagram of PATL2: 18 exons on the reverse strand of chromosome 15Exon 12: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 9: 3 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 18: 44,665,732–44,665,971, 240 basesExon 17: 44,666,392–44,666,541, 150 basesExon 16: 44,667,106–44,667,203, 98 basesExon 15: 44,668,342–44,668,482, 141 basesExon 14: 44,668,980–44,669,139, 160 basesExon 13: 44,669,280–44,669,413, 134 basesExon 12: 44,669,510–44,669,563, 54 basesExon 11: 44,669,777–44,669,874, 98 basesExon 10: 44,669,967–44,670,087, 121 basesExon 9: 44,672,015–44,672,156, 142 basesExon 8: 44,672,388–44,672,456, 69 basesExon 7: 44,673,235–44,673,377, 143 basesExon 6: 44,674,150–44,674,230, 81 basesExon 5: 44,675,486–44,675,691, 206 basesExon 4: 44,676,475–44,676,565, 91 basesExon 3: 44,710,096–44,710,214, 119 basesExon 2: 44,710,871–44,710,929, 59 basesExon 1: 44,711,020–44,711,323, 304 bases181510515′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 2.4 kb of the gene's 45.6 kb; 1,632 of those bases code for the protein.

How a genome test reads PATL2

13

positions in PATL2 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 45.6 kb of PATL2, introns included, not only the 2.4 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.). PATL2 gene: PAT1 homolog 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/patl2

Vancouver

Dante Labs. PATL2 gene: PAT1 homolog 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/patl2

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