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FLASH GENE

Symbol

GDAP2

contributors: npt/mct - updated : 21-11-2022

HGNC name	ganglioside induced differentiation associated protein 2
HGNC id	18010

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCAR27 spinocerebellar ataxia, autosomal recessive 27
Location	1p12      Physical location : 118.406.107 - 118.472.302
Synonym name	GDAP2 protein
Synonym symbol(s)	FLJ20142, dJ776P7.1, hCG_38171, MACROD3, SCAR27

DNA

TYPE	functioning gene
STRUCTURE	66.14 kb     14 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_001135589 13 - 2984 NP_001129061 - 496 - 2007 17897319 NM_017686 14 - 8819 NP_060156 56.2 497 - 2007 17897319

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 Nervous brain       highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to Drosophila cg12040

intraspecies

homolog to lrp16

Homologene

FAMILY

GDAP2 family

CATEGORY

signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION

might be involved in the signal transduction pathway that is triggered through the expression of a single sialyltransferase gene to induce neurite-like differentiation of Neuroblastoma cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

developmentally regulated

ASSOCIATED DISORDERS

corresponding disease(s)

SCAR27

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   dysregulates neuronal excitatory synaptic transmission, and is associated with increased seizure frequency

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS