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FLASH GENE

Symbol

RFX2

contributors: npt/mct - updated : 20-09-2016

HGNC name	regulatory factor X, 2 (influences HLA class II expression)
HGNC id	9983

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	117.49 kb     18 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D19S177 - FUT5 - RFX2 - MLLT1 - D19S350 - C3 - VAV1 - cen
Authors	Doyle (96)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_134433 17 - 4039 NP_602309 - 698 - Morotomi-Yano (2002) NM_000635 18 - 4114 NP_000626 - 723 - Morotomi-Yano (2002)

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 Lymphoid/Immune thymus         Reproductive male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a specific DNA-binding domain
	a dimerization domain

HOMOLOGY

Homologene

FAMILY

RFX family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	transactivating DNA binding regulator 2,involved in MHC class II expression
	may be important repressors of collagen gene transcription through a RFX binding site spanning the transcription start site
	potentially an important transcriptional regulator in pachytene spermatocytes (Horvath 2009)

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to the MHC promoter box X

RNA

small molecule

protein	interacting with RFX1, and ALMS1 (activate ALMS1 transcription during serum starvation-induced growth arrest, most likely as part of the ciliogenic program) (Purvis 2010)
	RFX2 is essential for expression of several ciliogenic genes, including TTC25, which we show here is required for ciliogenesis, HH signaling, and left-right patterning
	binding to the testis-specific histone HIST1H1T promoter may be required for transcriptional activation in primary spermatocytes (VanWert 2008)
	TP73 directly activates the key regulators FOXJ1, RFX2, RFX3

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS