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FLASH GENE

Symbol

AMPD2

contributors: mct - updated : 29-08-2016

HGNC name	adenosine monophosphate deaminase 2 (isoform L)
HGNC id	469

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PCH9 pontocerebellar hypoplasia, type 9 SPG63 spastic paraplegia 63
Location	1p13.3      Physical location : 110.162.458 - 110.174.677
Synonym name	AMP deaminase isoform L
Synonym symbol(s)	PCH9, SPG63
EC.number	3.5.4.6

DNA

TYPE	functioning gene
STRUCTURE	12.24 kb     18 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

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_001257360 19 - 4138 NP_001244289 - 879 - 2013 23911318 NM_004037 18 - 4005 NP_004028 - 879 - 2013 23911318 NM_139156 18 - 3785 NP_631895 - 798 - 2013 23911318 NM_001308170 17 - 3541 NP_001295099 - 804 - 2013 23911318 NM_001257361 18 - 3421 NP_001244290 - 761 - 2013 23911318 NM_203404 16 - 3423 NP_981949 - 760 - 2013 23911318

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 Digestive liver         Nervous brain         Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , tetramer

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION

playing a critical role in energy metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

purine/pyrimidine

signaling

adenine nucleotide catabolic pathway

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PCH9 , SPG63

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS