SPINK5
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SPINK5 (HGNC:15464) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
serine peptidase inhibitor Kazal type 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184
%HI
69.56(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.91(Read more about gnomAD LOEUF score)
Cytoband
5q32
Genomic Coordinates
GRCh37/hg19: chr5:147443543-147516945 NCBI Ensembl UCSC
GRCh38/hg38: chr5:148063980-148137382 NCBI Ensembl UCSC
MANE Select Transcript
NM_006846.4 ENST00000256084.8 (Read more about MANE Select)
Function
Serine protease inhibitor, probably important for the anti- inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation- involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin. {ECO:0000269|PubMed:10419450, ECO:0000269|PubMed:17596512, ECO:0000269|PubMed:20533828}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23969
ClinGen Curation ID:
CCID:007934
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)