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FLASH GENE

Symbol

NHP2

contributors: mct - updated : 19-06-2010

HGNC name	NHP2 ribonucleoprotein homolog (yeast)
HGNC id	14377

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	4.50 kb     4 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_017838 4 - 867 NP_060308 17.07 153 - 2002 12020816 NM_001034833 3 - 761 NP_001030005 9.94 90 - 2002 12020816

EXPRESSION

Rna function	highly in spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, muscle, kidney
Type

expressed in	(based on citations)
organ(s)

cell lineage
cell lines	proliferating cells
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to yeast S.cerevisiae Nhp2p

Homologene

FAMILY	H/ACA sno RNP nucleolar protein gene family
	ribosomal protein L7Ae family

CATEGORY

enzyme , RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,coiled bodies (Cajal)
	intracellular,nucleus,nucleolus
text	dense fibrillar component of nucleole and Cajal bodies

basic FUNCTION

playing a role in ribosomal RNA production and in pseudouridylation of pre rRNA's

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	telomerase complex associating with GAR1, NOP10, DKC1, TERC, TERT
	DKC1-NOP10-NHP2 core trimer specifically recognizes H/ACA RNAs

INTERACTION

DNA

RNA

small molecule

protein

interaction with TERC (assembles not one but two sets of all four of the H/ACA RNP core proteins, dyskerin, NOP10, NHP2, and GAR1)

cell & other

REGULATION

Other

regulated at the transcription level depending on tissue specificity and cellular proliferative status

ASSOCIATED DISORDERS

corresponding disease(s)

DKC6

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS