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FLASH GENE

Symbol

FAM3B

contributors: SGE/npt - updated : 05-01-2007

HGNC name	family with sequence similarity 3, member B
HGNC id	1253

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	40.94 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - BACE2 - FAM3B - MX2 - qter
Authors	Reymond (01)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_058186 8 - 1384 NP_478066 25.9 235 - Reymond, Yang isoform A NM_206964 7 - 1240 NP_996847 - 187 - Reymond, Yang isoform B variant 3 - - - isoform 3 - 274 - Reymond also called C21orf11-IA

EXPRESSION

Type	restricted

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   stomach       highly Endocrine neuroendocrine pituitary         pancreas       highly Reproductive female system breast mammary gland       male system prostate     highly Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

liver

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	one hydrophobic leader sequence
	four conserved cysteine
	two glycosylation sites

secondary structure

4 alpha-helical bundles with an up-up-down-down topology, and two disulfide bonds (helices B and C and the second disulfide bond are essential for PANDER-induced beta-cell death)

HOMOLOGY

interspecies

homolog to murine Orf9

intraspecies

homolog to FAM3C

Homologene

FAMILY

FAM3 family

CATEGORY

signaling cytokine

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	may be having a role in the process of pancreatic beta-cell apoptosis
	may play a role in glucose homeostasis in combination with or without insulin
	cytokine, present in insulin secretory granules, inducing apoptosis of alpha and beta cells islets in a dose- and time-dependent manner, and may be implicated in diabetes

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

binding to the liver cell membrane (Yang 2009)

REGULATION

inhibited by

over-expression of CLN3 in neuroblastoma cells

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in diabetes

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS