SPINK5 (serine peptidase inhibitor Kazal type 5)

2007-02-01  

Identity

HGNC
LOCATION
5q32
LOCUSID
ALIAS
LEKTI,LETKI,NETS,NS,VAKTI
FUSION GENES

Other Information

Locus ID:

NCBI: 11005
MIM: 605010
HGNC: 15464
Ensembl: ENSG00000133710

Variants:

dbSNP: 11005
ClinVar: 11005
TCGA: ENSG00000133710
COSMIC: SPINK5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133710ENST00000256084Q9NQ38
ENSG00000133710ENST00000359874Q9NQ38
ENSG00000133710ENST00000398454Q9NQ38
ENSG00000133710ENST00000476697E5RFU9
ENSG00000133710ENST00000508733E7EWP9
ENSG00000133710ENST00000521206E5RG22

Expression (GTEx)

0
500
1000
1500

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
175965122007LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction.52
192476922009Analyses of associations with asthma in four asthma population samples from Canada and Australia.39
166016702006Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome.36
185887532008Epithelial genes in chronic rhinosinusitis with and without nasal polyps.34
118415562002Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.27
179898872007Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort.24
179898872007Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort.24
200855992009A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2.23
200855992009A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2.23

Citation

Dessen P

SPINK5 (serine peptidase inhibitor Kazal type 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43889/spink5