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FLASH GENE

Symbol

MCF2L

contributors: mct - updated : 22-01-2019

HGNC name	MCF.2 cell line derived transforming sequence-like
HGNC id	14576

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	13q34      Physical location : 113.622.756 - 113.752.862
Synonym name	guanine nucleotide exchange factor DBS
	DBL's big sister
	cDNA sequence,expressed in brain, >100kDa, related to rat ost oncogene
Synonym symbol(s)	DBS, OST, KIAA0362, ARHGEF14

DNA

TYPE	functioning gene
STRUCTURE	205.36 kb     27 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001112732 30 - 6424 NP_001106203 - 1125 - 2014 25483302 NM_001320816 30 - 6633 NP_001307745 - 1129 - 2014 25483302 NM_024979 30 - 6456 NP_079255 - 1123 - 2014 25483302 NM_001320815 31 - 6531 NP_001307744 - 1148 - 2014 25483302 NM_001320817 27 - 3466 NP_001307746 - 984 - 2014 25483302 NM_001366644 30 - 6820 NP_001353573 - 1096 - 2014 25483302 NM_001366645 29 - 6298 NP_001353574 - 1112 - 2014 25483302 NM_001366646 28 - 6223 NP_001353575 - 1087 - 2014 25483302

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 Digestive intestine large intestine colon   highly   pancreas exocrine       moderately Nervous brain       predominantly Reproductive female system breast mammary gland   moderately Respiratory lung       moderately Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Connective bone     moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal Sec14 domain
	a CRAL-TRIO domain
	a DH (DBL-homology) domain
	a PH domain
	and the C-terminal SH3 domain

HOMOLOGY

interspecies	homolog to rattus Mcf2l (87.9 pc)
	homolog to murine Mcf2l (90.3 pc)

Homologene

FAMILY

CATEGORY

regulatory , protooncogene , signaling

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic

basic FUNCTION	acting as a guanine nucleotide exchange factor that potentially links pathways that signal through RAC1, RHOA and CDC42
	catalyzing guanine nucleotide exchange on RHOA and CDC42
	functioning as an effector of RAC1
	may also participate in axonal transport in the brain
	guanine nucleotide exchange factor that has been shown to regulate both normal and tumor cell motility

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

regulation of Rho protein signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts specifically with the GTP-bound form of RAC1
	role in negative regulation of receptor endocytosis by the small GTPase RAC1
	MCF2L is a guanine exchange factor that potentially links pathways that signal through RAC1 and RHOA

cell & other

REGULATION

Other

activated and highly tumorigenic by truncation of the N-terminus

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Osteoarthritis (OA) to premature atherosclerosis

Variant & Polymorphism SNP	rs11842874 is positioned within a small linkage disequilibrium (LD) block within intron 4 of MCF2L and is associated with Osteoarthritis (OA)
	rare variant in MCF2L identified in a pedigree with premature atherosclerosis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS