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FLASH GENE

Symbol

ARMC9

contributors: mct/npt - updated : 23-08-2017

HGNC name	armadillo repeat containing 9
HGNC id	20730

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	JBTS30 Joubert syndrome 30
Location	2q37.1      Physical location : 232.063.341 - 232.209.912
Synonym name	melanoma/melanocyte specific protein KU-MEL-1
	armadillo/beta-catenin-like repeats
	LisH domain-containing protein ARMC9
Synonym symbol(s)	FLJ12584, KIAA1868, ARM, KU-MEL-1, NS21, Kumel1

DNA

TYPE	functioning gene
STRUCTURE	196.45 kb     21 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_025139 21 - 2235 NP_079415 75.5 665 - 2017 28625504 NM_001291656 21 - 2315 NP_001278585 - 675 - 2017 28625504 NM_001271466 24 - 6840 NP_001258395 - 818 - 2017 28625504 NM_001352754 - - 7954 NP_001339683 - 818 - 2017 28625504 NM_001352755 - - 2497 NP_001339684 - 665 - 2017 28625504 NM_001352756 - - 2493 NP_001339685 - 665 - 2017 28625504 NM_001352757 - - 2218 NP_001339686 - 632 - 2017 28625504 NM_001352758 - - 2216 NP_001339687 - 632 - 2017 28625504 NM_001352759 - - 2212 NP_001339688 - 630 - 2017 28625504

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument melanocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal LisH domain
	a coiled coil domain
	a series of armadillo repeats

HOMOLOGY

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytoskeleton
text	localizes to the ciliary basal body

basic FUNCTION	possible involvement of ARMC9 specific CD4(+) T cells in the pathogenesis of VKH (Vogt-Koyanagi-Harada disease), suggesting the possible use in the development of diagnostic and therapeutic treatments for VKH patients (Otani 2006)
	its expression is upregulated in human ciliated fibroblasts
	role for ARMC9 in ciliary function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

JBTS30

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS