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FLASH GENE

Symbol

SERPINB7

contributors: mct/npt/pgu - updated : 14-12-2013

HGNC name	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7
HGNC id	13902

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NPPK Nagashima-type" palmoplantar keratosis
Location	18q21.33      Physical location : 61.420.276 - 61.472.603
Genatlas name	MEGSIN
Synonym name	megsin,expressed in the glomerulus of kidney
	mesangium predominant gene
Synonym symbol(s)	MEGSIN, SPB7, DKFZp686D06190, MGC120014, MGC120015, TP55

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	cluster of clade-B serpin genes
STRUCTURE	52.33 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - SERPINB5 - SERPINB4 - SERPINB3 - SERPINB7 - SERPINB2 - SERPINB10 - SERPINB8 - PI8L2 - qter
Authors	Scott(99)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001040147 8 - 1973 NP_001035237 - 380 - 2013 24207119 NM_003784 8 - 2235 NP_003775 - 380 - 2013 24207119 NM_001261831 7 - 2193 NP_001248760 - 363 - 2013 24207119 NM_001261830 8 - 1951 NP_001248759 - 380 - 2013 24207119

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Skin/Tegument skin         Mus musculus   skin palmoplantar       Homo sapiens Urinary kidney nephron renal capsule glomerulus   Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis stratum granulosum   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte Mus musculus Urinary mesangial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

reactive site loop characteristic of inhibitory serpins

HOMOLOGY

interspecies

homolog to murine Serpinb7

Homologene

FAMILY	serine protease inhibitor superfamily
	Ov-serpin subfamily

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm

basic FUNCTION	influencing the maturation of megakaryocytes via its action as a serpin
	functional modulator of mesangial functions in situ
	potentially inhibits total enzymatic activities of MMP2 MMP9 and plasmin, indicating decreased degradation of mesangial matrix
	mesangial cell-predominant gene
	might inhibit mechanical stress-induced proteases and protect keratinocytes or corneocytes from protease-mediated cellular damage

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NPPK

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   upregulated in IgA nephropathy constitutional     --over   in diabetic nephropathy (mesangial matrix accumulation caused by hyperglycemia in diabetes might be due at least in part to up-regulation of megsin which can inhibit plasmin and MMP activities) tumoral     --low   in oral squamous cell carcinomas constitutional     --over   associated with mesangial cell (MC) proliferation and extracellular matrix (ECM) accumulation

Susceptibility

to IgA nephropathy (IGAN) to poor renal survival in IgA nephropathy (IGAN)

Variant & Polymorphism SNP	2093C and 2180T alleles at the 3' untranslated region (3prime UTR) of the gene are associated with susceptibility to IgAN
	2093T-2180C haplotype at the 3 prime UTR of megsin gene is associated with rapid disease progression in Korean IgAN patients

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete     may serve as a novel therapeutic target in the management of diabetic nephropathy

ANIMAL & CELL MODELS