SERPINB6

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SERPINB6 (HGNC:8950) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
serpin family B member 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PI6, DFNB91
Alias symbols
PTI, CAP
%HI
69(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.12(Read more about gnomAD LOEUF score)
Cytoband
6p25.2
Genomic Coordinates
GRCh37/hg19: chr6:2948393-2972027 NCBI Ensembl UCSC
GRCh38/hg38: chr6:2948159-2971793 NCBI Ensembl UCSC
MANE Select Transcript
NM_004568.6 ENST00000380539.7 (Read more about MANE Select)
Function
May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss. {ECO:0000250, ECO:0000269|PubMed:10068683, ECO:0000269|PubMed:17761692, ECO:0000269|PubMed:20451170, ECO:0000269|PubMed:8136380... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18375
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive nonsyndromic hearing loss 91 Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)