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FLASH GENE

Symbol

UNC80

contributors: mct/npt/pgu - updated : 27-01-2016

HGNC name	chromosome 2 open reading frame 21
HGNC id	26582

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IHPRF2 infantile hypotonia with psychomotor retardation and characteristic facies 2
Location	2q34      Physical location : 210.636.716 - 210.864.024
Synonym symbol(s)	FLJ33496, FLJ14677, FLJ53903, KIAA1843, C2orf21

DNA

TYPE	functioning gene
STRUCTURE	227.31 kb     64 Exon(s)

regulatory sequence

MAPPING

cloned

Y

linked

N

status

provisional

mode	radiation hybrid
Map	cen - D2S2178 - D2S1649E - UNC80 - D2S1724E - D2S157 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032504 64 - 13562 NP_115893 363.3 3258 - 2008 18336069 variant 2 8 - 2771 35.45 320 - 2008 18336069 NM_182587 62 - 13490 NP_872393 - 3234 - 2008 18336069

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 Endocrine neuroendocrine pituitary     highly Nervous brain         Homo sapiens Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	contribute to endocytosis defects in synaptojanin mutants
	regulate neuronal activity by transmitting depolarization signals to synapses in C. elegans neurons
	is required for the channel regulation by extracellular Ca2+ through a G-protein-dependent pathway and by neuropeptides
	involved in the coupling from receptor to channel
	extracellular Ca(2+) influences neuronal excitability through the UNC79-UNC80-NALCN complex in a G protein-dependent fashion

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	is a protein that is associated with the NALCN and is required for the activation of this channel by the neuropeptide substance P through GPCRs in a G-protein-independent fashion
	large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IHPRF2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS