Skip to content
Use your HSA or FSA funds

Gene

SPINK5

serine peptidase inhibitor Kazal type 5

Summary

Cytogenetic location
5q32
Coordinates
Chromosome 5: 148,063,980–148,137,382 (GRCh38)
Exons
33 exons across 73.4 kb
Protein
1,064 amino acids
Also known as
VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184
MANE Select transcript
ENST00000256084.8NM_006846.4
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

  • Hyper-IgE Syndrome

    • A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

How SPINK5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where SPINK5 sits. SPINK5 and 12 genes near it on chromosome 5, from 147,600,681 to 148,600,680.Chromosome 55q32p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3147.8 Mb148 Mb148.2 Mb148.4 Mb148.6 MbJAKMIP2: 147,585,438–147,782,781, reverse strandJAKMIP2SPINK1: 147,824,572–147,831,679, reverse strandSPINK1SCGB3A2: 147,869,800–147,882,310, forward strandSCGB3A2C5orf46: 147,879,632–147,906,544, reverse strandC5orf46SPINK5: 148,063,980–148,137,382, forward strandSPINK5SPINK14: 148,168,546–148,175,619, forward strandSPINK14SPINK6: 148,202,794–148,215,137, forward strandSPINK6MARCOL: 148,221,650–148,243,580, forward strandMARCOLSPINK13: 148,268,180–148,286,255, forward strandSPINK13SPINK7: 148,312,419–148,315,924, forward strandSPINK7SPINK9: 148,321,203–148,339,852, forward strandSPINK9FBXO38: 148,383,826–148,442,850, forward strandFBXO38HTR4: 148,446,042–148,677,235, reverse strandHTR4Diagram of SPINK5: 33 exons on the forward strand of chromosome 5Exon 1: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 7: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 18: 1 known disease-causing siteExon 19: 4 known disease-causing sitesExon 20: 1 known disease-causing siteExon 21: 2 known disease-causing sitesExon 22: 4 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 25: 5 known disease-causing sitesExon 26: 6 known disease-causing sitesExon 27: 5 known disease-causing sitesExon 28: 2 known disease-causing sitesExon 29: 3 known disease-causing sitesExon 30: 2 known disease-causing sitesExon 31: 3 known disease-causing sitesExon 1: 148,063,980–148,064,099, 120 basesExon 2: 148,065,347–148,065,372, 26 basesExon 3: 148,070,323–148,070,450, 128 basesExon 4: 148,072,148–148,072,220, 73 basesExon 5: 148,086,405–148,086,532, 128 basesExon 6: 148,088,542–148,088,605, 64 basesExon 7: 148,089,494–148,089,621, 128 basesExon 8: 148,091,165–148,091,228, 64 basesExon 9: 148,094,354–148,094,481, 128 basesExon 10: 148,095,818–148,095,905, 88 basesExon 11: 148,097,867–148,097,994, 128 basesExon 12: 148,099,234–148,099,315, 82 basesExon 13: 148,100,454–148,100,581, 128 basesExon 14: 148,101,355–148,101,436, 82 basesExon 15: 148,101,781–148,101,908, 128 basesExon 16: 148,104,952–148,105,000, 49 basesExon 17: 148,107,037–148,107,164, 128 basesExon 18: 148,108,753–148,108,837, 85 basesExon 19: 148,111,768–148,111,895, 128 basesExon 20: 148,112,868–148,112,934, 67 basesExon 21: 148,114,362–148,114,489, 128 basesExon 22: 148,116,370–148,116,466, 97 basesExon 23: 148,118,437–148,118,564, 128 basesExon 24: 148,118,986–148,119,058, 73 basesExon 25: 148,120,009–148,120,136, 128 basesExon 26: 148,120,295–148,120,391, 97 basesExon 27: 148,123,833–148,123,960, 128 basesExon 28: 148,124,765–148,124,837, 73 basesExon 29: 148,125,723–148,125,850, 128 basesExon 30: 148,126,983–148,127,079, 97 basesExon 31: 148,131,259–148,131,389, 131 basesExon 32: 148,133,797–148,133,887, 91 basesExon 33: 148,136,983–148,137,382, 400 bases151015202530335′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 3.7 kb of the gene's 73.4 kb; 3,195 of those bases code for the protein.

How a genome test reads SPINK5

109

positions in SPINK5 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 73.4 kb of SPINK5, introns included, not only the 3.7 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.). SPINK5 gene: serine peptidase inhibitor Kazal type 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/spink5

Vancouver

Dante Labs. SPINK5 gene: serine peptidase inhibitor Kazal type 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/spink5

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test