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Gene

SERPINF1

serpin family F member 1

Summary

Cytogenetic location
17p13.3
Coordinates
Chromosome 17: 1,762,060–1,777,565 (GRCh38)
Exons
8 exons across 15.5 kb
Protein
418 amino acids
Also known as
EPC-1, PIG35
Previous symbols
PEDF
MANE Select transcript
ENST00000254722.9NM_002615.7
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

  • 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

How SERPINF1 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 SERPINF1 sits. SERPINF1 and 21 genes near it on chromosome 17, from 1,269,813 to 2,269,812.Chromosome 1717p13.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.31.4 Mb1.6 Mb1.8 Mb2 Mb2.2 MbBHLHA9: 1,270,444–1,271,815, forward strandBHLHA9TRARG1: 1,279,554–1,300,978, forward strandTRARG1YWHAE: 1,344,275–1,400,326, reverse strandYWHAECRK: 1,420,689–1,463,162, reverse strandCRKMYO1C: 1,464,186–1,492,707, reverse strandMYO1CINPP5K: 1,494,571–1,516,759, reverse strandINPP5KPITPNA: 1,517,718–1,562,861, reverse strandPITPNASLC43A2: 1,569,268–1,630,103, reverse strandSLC43A2SCARF1: 1,633,848–1,646,122, reverse strandSCARF1RILP: 1,646,138–1,650,083, reverse strandRILPPRPF8: 1,650,624–1,684,909, reverse strandPRPF8TLCD2: 1,688,598–1,710,639, reverse strandTLCD2WDR81: 1,716,523–1,738,599, forward strandWDR81SERPINF2: 1,742,069–1,755,271, forward strandSERPINF2SERPINF1: 1,762,060–1,777,565, forward strandSERPINF1SMYD4: 1,779,485–1,830,634, reverse strandSMYD4RPA1: 1,829,702–1,900,082, forward strandRPA1RTN4RL1: 1,934,677–2,025,355, reverse strandRTN4RL1DPH1: 2,030,136–2,043,898, forward strandDPH1OVCA2: 2,042,022–2,043,898, forward strandOVCA2HIC1: 2,054,154–2,063,241, forward strandHIC1SMG6: 2,059,839–2,303,934, reverse strandSMG6Diagram of SERPINF1: 8 exons on the forward strand of chromosome 17Exon 2: 3 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 1: 1,762,060–1,762,113, 54 basesExon 2: 1,766,903–1,766,994, 92 basesExon 3: 1,769,852–1,770,050, 199 basesExon 4: 1,771,029–1,771,184, 156 basesExon 5: 1,771,872–1,772,075, 204 basesExon 6: 1,775,058–1,775,200, 143 basesExon 7: 1,776,532–1,776,742, 211 basesExon 8: 1,777,187–1,777,565, 379 bases123456785′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 1.4 kb of the gene's 15.5 kb; 1,257 of those bases code for the protein.

How a genome test reads SERPINF1

38

positions in SERPINF1 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 15.5 kb of SERPINF1, introns included, not only the 1.4 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.). SERPINF1 gene: serpin family F member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/serpinf1

Vancouver

Dante Labs. SERPINF1 gene: serpin family F member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/serpinf1

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