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FLASH GENE

Symbol

LRP12

contributors: mct - updated : 06-04-2022

HGNC name	low density lipoprotein-related protein 12
HGNC id	31708

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ALS28 amyotrophic lateral sclerosis 28 OPDM1 oculopharyngodistal myopathy 1
Location	8q22.3      Physical location : 105.501.458 - 105.601.252
Synonym name	suppression of tumorigenicity 7
Synonym symbol(s)	FLJ12929, ST7, MIG13A, DKFZp781F1053

DNA

TYPE	functioning gene
STRUCTURE	100.02 kb     7 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_001135703 6 - 4321 NP_001129175 - 840 - 2019 31332380 NM_013437 7 - 4378 NP_038465 - 859 - 2019 31332380

EXPRESSION

Type

widely

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

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a five fold cysteine-rich repeat homolog to the ligand binding repeat of LDLR
	an hydrophobic stretch
	a cytoplasmic domain containing several motifs implicated in endocytosis and signal transduction
	two CUB domains
	five LDL-receptor class A domains
	a C terminal domain of 343 residues

HOMOLOGY

Homologene

FAMILY

subfamily of the LDLR superfamily

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	plasma membrane
text	membrane protein type 2

basic FUNCTION	putative ST7 receptor protein, with potential role in the transformation process of cells
	may function as an oncogene in oral tumors
	is involved in brain development
	LRP12 and lipoprotein homeostasis are potential molecular target structures for the emergence of epilepsy-associated Focal cortical dysplasias (FCDs)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

protein constituent of transmembrane

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OPDM1 , ALS28

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in oral squamous cell carcinomas tumoral     --low   by hypermethylation in B-cell lymphoma

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	represent promising epigenetic markers which may be suitable for monitoring of B-cell lymphoma
Therapy target

ANIMAL & CELL MODELS