SERPINB7

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SERPINB7 (HGNC:13902) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
serpin family B member 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
MEGSIN
%HI
63.85(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.31(Read more about gnomAD LOEUF score)
Cytoband
18q21.33
Genomic Coordinates
GRCh37/hg19: chr18:61420291-61472604 NCBI Ensembl UCSC
GRCh38/hg38: chr18:63753057-63805370 NCBI Ensembl UCSC
MANE Select Transcript
NM_003784.4 ENST00000398019.7 (Read more about MANE Select)
Function
Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36983
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
11/13/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • palmoplantar keratoderma, Nagashima type Monarch
HI Evidence Comments:
Biallelic loss of function mutations in SERPINB7 are associated with autosomal recessive Nagashima-type palmoplantar kerotosis. One common mutation was found to be a founder mutation in Japanese and Chinese populations. See Kubo, 2013, PMID: 24207119; Mizuno, 2014, PMID: 24773080; Yin, 2014, PMID: 24514002; Kubo, 2014, PMID: 25029323.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)