Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

SERPINB8

contributors: mct/shn - updated : 16-09-2016

HGNC name	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8
HGNC id	8952

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PSS5 peeling skin syndrome-5
Location	18q21.33      Physical location : 61.637.262 - 61.656.607
Synonym name	cytoplasmic antiproteinase 2
	protease inhibitor 8 (ovalbumin type)
Synonym symbol(s)	CAP2, PI8, SPB8

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	49.75 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

five or more CAG repeats

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D18S91 - MC4R - BCL2 BCL2 - FVT1 - D18S87 - SERPINB5 - SERPINB4 - D18S86 - SERPINB3 - D18S79 - D18S82 - SERPINB2 - SERPINB10 - D18S80 - SERPINB8 - D18S85 - D18S83 - D18S81 - D18S93 - D18S84 - qter
Authors	Bartuski (97)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002640 7 - 3390 NP_002631 - 374 - 1997 9402754 NM_198833 7 - 3407 NP_942130 - 374 - 1997 9402754 mutation affects the start codon of the longest SERPINB8 transcript, isoform a NM_001031848 7 - 1409 NP_001027018 - 242 - 1997 9402754 NM_001276490 6 - 3212 NP_001263419 - 192 - 1997 9402754 shorter isoform c uses an alternate splice junction in the 5& 8242; UTR and lacks the first exon containing the translation start site compared to isoform a

EXPRESSION

Type	ubiquitous

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 Digestive intestine large intestine colon   moderately Homo sapiens Endocrine adrenal gland cortex     moderately Homo sapiens   neuroendocrine pituitary     moderately Homo sapiens   pancreas       highly Homo sapiens   thyroid       moderately Homo sapiens Skin/Tegument skin       highly Homo sapiens Urinary kidney         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Homo sapiens Skin/Tegument keratinocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	high molecular weight
	two hydrophobic regions in close proximity to the N terminus, which are thought to be important for secretion of SERPINB8

HOMOLOGY

Homologene

FAMILY

serpin family, ovalbumin subgroup

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	playing a role in platelet-regulated pathophysiological responses
	contributes to the mechanical stability of intercellular adhesions in the epidermis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

coexpressed with the subtilase-type protease furin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PSS5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in breast, colon, lung and ovary tumors

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	is a novel immunohistochemical marker for neuroendocrine tumors of the pancreas
Therapy target

ANIMAL & CELL MODELS