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FLASH GENE

Symbol

HIVEP2

contributors: mct - updated : 18-09-2017

HGNC name	human immunodeficiency virus type I enhancer binding protein 2
HGNC id	4921

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRD43 mental retardation, autosomal dominant 43
Location	6q24.2      Physical location : 143.072.604 - 143.266.338
Synonym name	C-Myc intron binding protein
	MHC-binding protein 2
	Schnurri-2
Synonym symbol(s)	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B, SHn-2, HIV-EP2, MBP-2, MIBP1, MRD43, SHN2

DNA

TYPE	functioning gene
STRUCTURE	193.74 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_006734 10 - 9732 NP_006725 - 2446 - 2004 15009192

EXPRESSION

Type

widely

constitutive of

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         Digestive mouth tongue     highly Lymphoid/Immune lymph node       highly Nervous brain         Respiratory respiratory tract larynx     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ZAS1 and ZAS2 domain
	12 T/SPXR/K motifs
	four C2H2-type zinc fingers

HOMOLOGY

interspecies	ortholog to murine Hivep2
	homolog to Drosophila shn
	homolog to C.elegans C46C2.1

intraspecies

paralog to HIVEP1,HIVEP3

Homologene

FAMILY

Schnurri protein family

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	may be functioning as a transcriptional repressor
	playing a crucial role in maintaining cellular homeostasis at least in part by inhibiting NFKB
	plays a critical role in cell growth, signal transduction and lymphocyte development
	regulates Th2-dependent airway inflammation and airway hyperresponsiveness
	unique and redundant functions reside in the Schnurri protein family that are required for proper skeletal patterning and remodeling
	large zinc-finger containing protein, which plays a critical role in cell growth, signal transduction and lymphocyte development
	HIVEP2-mediated repression of NF-kappaB is required for cell survival and the successful generation of memory Th1/Th2 cells
	transcriptional modulator of bone formation and bone resorption
	acts to dampen death induced by TCR signalling, thereby allowing positive selection to proceed in response to signals of intermediate strength
	critical regulator of T-cell development that controls the balance between death and differentiation
	is considered to play an important role in the activation and function of NK cells and the development of T cell lymphoma
	nuclear factor-kappaB site-binding protein, tightly binds to the enhancers of major histocompatibility complex class I genes and inflammatory cytokines

CELLULAR PROCESS	cell life

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to 5'-GGGACTTTCC-3' sequence which is found in the enhancer elements of numerous viral promoters such as those of SV40,CMV or HIV1

RNA

small molecule

protein	with TRAF2 to repress TNF/NFKB signal pathway
	interacts with TCF4
	CLIC4, a multifunctional protein that traffics between the cytoplasm and nucleus, interacts with HIVEP2 (HIVEP2 and CLIC4 are modifiers of TGF-beta signalling through their stabilization of p-Smad2 and 3 in the nucleus)

cell & other

REGULATION

induced by

mitogen and phorbol ester

ASSOCIATED DISORDERS

corresponding disease(s)

MRD43

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   significantly depressed in the high malignancy gliomas group (WHO grade IV)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Shn2-deficient mice maintain bone mass at the levels comparable to wild-type sham mice even after ovariectomy-induced bone loss and this correlates with the high levels of mineralization activity in bone marrow cells after ovariectomy
	deletion of Shn2 and Shn3 in mice impairs growth plate maturation during endochondral ossification but simultaneously results in massively elevated trabecular bone formation
	Hivep2-knockout mice exhibit several working memory deficits, increased anxiety, and hyperactivity