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FLASH GENE

Symbol

RFXANK

contributors: mct - updated : 03-01-2012

HGNC name	regulatory factor X-associated ankyrin-containing protein
HGNC id	9987

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BLS2B Bare lymphocyte syndrome type II
Location	19p13.11      Physical location : 19.303.007 - 19.312.677
Genatlas name	regulatory factor for X-box B
Synonym name	RFX-Bdelta4
	ankyrin repeat-containing regulatory factor X-associated protein
	regulatory factor X subunit B
Synonym symbol(s)	RFXB, BLS, ANKRA1

DNA

TYPE	functioning gene
STRUCTURE	9.67 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

regionally located

between MEF2B and CSPG3

RNA

TRANSCRIPTS	type	messenger

text	two isoforms produced by alternative splicing

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003721 10 - 1438 28 260 - 2009 19465385 RFX - B - delta 5 or V2 NM_134440 9 - 1369 - 237 - 2009 19465385 RFXB not involved in the positive regulation of MHC class II genes IFN-gamma up-regulates regulatory factor for X-box B (RFXB) to repress collagen transcription RFXBSV - splicing - - - - 2009 19465385 splice variant of RFXB that blocks collagen repression in fibroblasts did not bind to the collagen promoter and competed with RFXB for the co-repressor histone deacetylase 2 (HDAC2)

EXPRESSION

Type	ubiquitous

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 Cardiovascular heart       highly Lymphoid/Immune lymph node       highly Reproductive female system ovary     highly   female system uterus cervix   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a protein-protein interaction region with five ankirin repeats
	an ankyrin repeat domain

mono polymer

heteromer , trimer

HOMOLOGY

interspecies	homolog to murine Rfxank
	homolog to C.elegans c06a12.3

intraspecies

paralog to ANKRA2

Homologene

FAMILY

RFX family of DNA binding protein

CATEGORY

immunity/defense , regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	transactivating DNA binding regulator, involved in MHC class II expression
	playing a role in facilitating promoter occupation in the context of chromatin
	targets of class IIa HDACs playing a role in regulating MHCII expression
	positive regulator of major histocompatibility complex II (MHC II) gene expression
	DNA binding of RFX5 is inhibited by domains flanking its DNA binding domain, and both RFXAP and RFXANK are required to overcome the inhibition of both domains

CELLULAR PROCESS	nucleotide, genomic integrity
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	humoral defense mechanism

PATHWAY

metabolism

signaling

a component	subunit of the multimeric phosphoprotein complex RFX, containing RFX5, RFXANK, RFXAP
	forms the heterotrimeric RFX complex together with RFX5 and RFXAP, all are required for expression of MHCII genes

INTERACTION

DNA

RNA

small molecule

protein	RFX5 and RFXAP
	interacting with HDAC4 through its ankyrin repeat domain
	HDAC4 and HDAC5 interact with the ankyrin repeats of ANKRA2 and RFXANK and, through association with RFXANK, repress MHC II promoter activation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BLS2B

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS