SPINK14 — serine peptidase inhibitor Kazal type 14 (putative)

3 sources retrieved · Most recent: April 2026 · Index updated 4 months ago

3PubMed Papers

#18,952 · top 97% of 19K genes

20Diseases

top 90%

0Drugs

0Pathogenic Variants

Experimental GO EvidenceSwiss-Prot Reviewed

serine-type endopeptidase inhibitor activitynegative regulation of proteolysisextracellular regionimmunodeficiency 128immunodeficiency 112immunodeficiency 18isolated agammaglobulinemia

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

serine peptidase inhibitor Kazal type 14 (putative)

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations20

immunodeficiency 128Open Targets

0.06Suggestive

immunodeficiency 112Open Targets

0.05Suggestive

immunodeficiency 18Open Targets

0.05Suggestive

agammaglobulinemia 7, autosomal recessiveOpen Targets

0.05Suggestive

autosomal agammaglobulinemiaOpen Targets

0.05Suggestive

isolated agammaglobulinemiaOpen Targets

0.05Suggestive

severe combined immunodeficiency due to CD70 deficiencyOpen Targets

0.04Suggestive

monocytopenia with susceptibility to infectionsOpen Targets

0.04Suggestive

immunodeficiency 105Open Targets

0.04Suggestive

autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicityOpen Targets

0.04Suggestive

severe combined immunodeficiency due to IKK2 deficiencyOpen Targets

0.04Suggestive

ghosal hematodiaphyseal dysplasiaOpen Targets

0.03Suggestive

immunodeficiency 117Open Targets

0.03Suggestive

immunodeficiency 85 and autoimmunityOpen Targets

0.03Suggestive

immunodeficiency 102Open Targets

0.03Suggestive

immunodysregulation with variable immunodeficiency and autoimmunityOpen Targets

0.03Suggestive

T-B+ severe combined immunodeficiency due to gamma chain deficiencyOpen Targets

0.03Suggestive

immunodeficiency 120Open Targets

0.03Suggestive

immunodeficiency 122Open Targets

0.03Suggestive

X-linked lymphoproliferative diseaseOpen Targets

0.03Suggestive

Pathogenic Variants

No pathogenic variants reported on ClinVar for this gene.

Tissue Expression6 tissues

Brain

Heart

Bone Marrow

Ovary

Liver

Lung

Gene Interaction Network6 neighbors

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StructureAlphaFold

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AlphaFoldAI-predicted · UniProt Q6IE38

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ConstraintgnomAD v4.1

LOEUFⓘ

1.12LoF Tolerant

pLIⓘ

0.39Tolerant

Observed/Expected LoF0.36 [0.14–1.12]

Rankings2 dim

Where SPINK14 stands among ~20K protein-coding genes

#19,033of 20,598
Most Researched3
#11,480of 17,882
Most Constrained (LOEUF)1.12