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FLASH GENE

Symbol

FAM69B

contributors: mct - updated : 14-10-2011

HGNC name	family with sequence similarity 69, member B
HGNC id	28290

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	9q34.3      Physical location : 139.607.023 - 139.619.169
Synonym name	hypothetical protein LOC138311
	pancreatitis-induced protein 49
Synonym symbol(s)	C9orf136, pp6977, MGC20262,PIP49

DNA

TYPE	functioning gene
STRUCTURE	12.14 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_152421 5 - 2334 50.4 431 - 2011 21334309

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 Endocrine pancreas       highly Homo sapiens Nervous brain limbic system hippocampus   highly Homo sapiens   brain forebrain cerebral cortex   highly Homo sapiens Visual eye         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N-terminal cytoplasmic di-arginine (RR) motifs, identified as an equivalent of C-terminal KK motifs, mediating ER retention via an interaction with COP I coatomer protein

HOMOLOGY

interspecies	ortholog to murine B230317C12Rik
	ortholog to rat pancreatitis-induced protein 49, PIP49

Homologene

FAMILY

FAM69 family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	endogenously expressed native FAM69B is found in the ER

basic FUNCTION	cysteine-rich type II transmembrane protein
	likely playing a fundamental and highly conserved role in the ER of most metazoan cells, with additional specialised roles in the vertebrate nervous system

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in an infantile haemangioma and in vascular endothelial cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS