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)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Netherton syndrome Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)