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FLASH GENE

Symbol

C19orf12

contributors: mct/shn - updated : 19-07-2013

HGNC name	chromosome 19 open reading frame 12
HGNC id	25443

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	16.90 kb     4 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D19S919 - D19S426 - C19orf12 - D19S433 - D19S405 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001031726 3 - 4412 NP_001026896 - 152 - 2011 21981780 NM_031448 3 - 4683 NP_113636 15 141 - 2011 21981780 NR_045692.1 4 splicing 4804 - - - - non-coding RNA NR_045691.1 2 splicing 4513 - - - - non-coding RNA NR_045690.1 2 splicing 4242 - - - - non-coding RNA NM_001256047.1 3 splicing 4489 NP_001242976 - 141 - - NM_001256046.1 3 splicing 4628 NP_001242975 - 107 - -

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 vessel       highly Reproductive female system ovary         female system uterus cervix

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to 1600014C10Rik, Mus musculus
	ortholog to zgc:112052, Danio rerio
	ortholog to C19H19orf12, Pan troglodytes

Homologene

FAMILY

CATEGORY

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	localizes predominantly to mitochondria
	co-localized closely with the ER marker calreticulin in COS7 cells, while in some other cells C19orf12 appeared to localize more to mitochondria

basic FUNCTION

possible role for C19orf12 in lipid homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NBIA4 , SPG43

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

subcellular distribution alteration of C19orf12 in cells expressing a Myc-tagged C19orf12 containing the SPG43 mutation p.Ala63Pro. The mutant fusion protein is located throughout the cytoplasm in a majority of cells