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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SPINK14
serine peptidase inhibitor Kazal type 14 (putative)
Chromosome 5 Β· 5q32
NCBI Gene: 408187Ensembl: ENSG00000196800.7HGNC: HGNC:33825UniProt: Q6IE38
3PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
serine-type endopeptidase inhibitor activitynegative regulation of proteolysisextracellular regionimmunodeficiency 19agammaglobulinemia 7, autosomal recessivemonocytopenia with susceptibility to infectionsghosal hematodiaphyseal dysplasia
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

serine peptidase inhibitor Kazal type 14 (putative)

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
immunodeficiency 19Open Targets
0.04Suggestive
agammaglobulinemia 7, autosomal recessiveOpen Targets
0.04Suggestive
monocytopenia with susceptibility to infectionsOpen Targets
0.04Suggestive
ghosal hematodiaphyseal dysplasiaOpen Targets
0.04Suggestive
combined immunodeficiency due to partial RAG1 deficiencyOpen Targets
0.04Suggestive
Combined immunodeficiency T+ B+ due to partial RAG1 deficiencyOpen Targets
0.04Suggestive
immunodeficiency 18Open Targets
0.04Suggestive
immunoglobulin A deficiency 2Open Targets
0.04Suggestive
severe combined immunodeficiency due to IKK2 deficiencyOpen Targets
0.04Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.03Suggestive
Cernunnos-XLF deficiencyOpen Targets
0.03Suggestive
severe combined immunodeficiency due to LAT deficiencyOpen Targets
0.03Suggestive
immunodeficiency 67Open Targets
0.03Suggestive
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyOpen Targets
0.03Suggestive
pyogenic bacterial infections due to MyD88 deficiencyOpen Targets
0.03Suggestive
immunodeficiency 105Open Targets
0.03Suggestive
immunodeficiency 112Open Targets
0.03Suggestive
reticular dysgenesisOpen Targets
0.03Suggestive
Neutropenia - monocytopenia - deafnessOpen Targets
0.03Suggestive
neutropenia-monocytopenia-deafness syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CSTBShared pathway100%TM4SF20Shared pathway100%SPINK6Shared pathway100%SPINK9Protein interaction83%SPINK7Shared pathway50%CST4Shared pathway50%
Tissue Expression6 tissues
Brain
0%
Heart
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SPINK14CSTBTM4SF20SPINK6SPINK9SPINK7CST4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q6IE38
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.39Tolerant
Observed/Expected LoF0.36 [0.14–1.12]
RankingsWhere SPINK14 stands among ~20K protein-coding genes
  • #19,033of 20,598
    Most Researched3
  • #11,480of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedSPINK14
Sources retrieved0 papers
Response timeβ€”