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FLASH GENE

Symbol

RFX6

contributors: mct - updated : 29-11-2016

HGNC name	regulatory factor X, 6
HGNC id	21478

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PHIG pancreatic hypoplasia, intestinal atresia, and gallblader aplasia
Location	6q22.1      Physical location : 117.198.375 - 117.253.325
Synonym name	regulatory factor X domain containing 1
	DNA-binding protein RFX6
Synonym symbol(s)	MGC33442, dJ955L16.1, RFXDC1

DNA

TYPE	functioning gene
STRUCTURE	54.93 kb     19 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_173560 19 - 3521 NP_775831 - 928 - Aftab (2008)

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 islet of Langerhans     highly

cells

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conserved RFX DNA binding domains (DBDs)

HOMOLOGY

interspecies

homolog to murine Rfxdc1

Homologene

FAMILY

RFX (regulatory factor X) family

CATEGORY

enzyme , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	t-RNA intron endonuclease activity
	regulation of transcription
	novel regulator of islet cell development (Soyer 2010)
	critical for development and associated with an expanding list of serious disease conditions including major histocompatibility (MHC) class II deficiency and ciliaophathies (Aftab 2008)
	directs islet cell differentiation downstream of NEUROG3 (Smith 2010)
	acts downstream of the pro-endocrine factor NEUROG3 (Smith 2010)
	new factor in endoderm and islet development, that is required for the differentiation of four of the five islet cell types and for the production of insulin (Smith 2010)

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

beta-cell enriched transcription factor RFX6 is a major regulator of GPR68

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PHIG

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mice lacking Rfx6 failed to generate any of the normal islet cell types except for pancreatic-polypeptide-producing cells (Smith 2010)