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FLASH GENE

Symbol

MAP2

contributors: shn/npt - updated : 12-10-2009

HGNC name	microtubule-associated protein 2
HGNC id	6839

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q34      Physical location : 210.288.770 - 210.598.834
Synonym symbol(s)	MAP2A, MAP2B, MAP2C, DKFZp686I2148

DNA

TYPE	functioning gene
STRUCTURE	310.06 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D2S2178 - D2S2274 - MAP2 - D2S322 - D2S157 - tel

RNA

TRANSCRIPTS	type	messenger

text	39 potentially differents transcripts in two groups, high molecular weight, low molecular weight, at least eight isoforms with three of form repeats of MTBD

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002374.3 15 splicing 9445 NP_002365 199.6 1827 nervous system, mostly in dendrites Shafit-Zagardo, Liu (2008) containing exons 9, 10 and 11 but lacking exon 16 overexpresed in oral cancer with metastases NM_031845.2 12 splicing 5377 NP_114033 - 471 nervous system, mostly in dendrites Shafit-Zagardo, Liu (2008) lacking exons 9, 10, 11 and 16 NM_031847.2 13 splicing 5470 NP_114035 - 502 nervous system, mostly in dendrites Shafit-Zagardo, Liu (2008) containing exon 16 but lacking exons 9, 10 and 11 NM_001039538.1 15 - 5844 NP_001034627 70 559 nervous system, mostly in dendrites Liu (2008)

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         Endocrine neuroendocrine pituitary     highly   pancreas         Nervous brain       highly Reproductive male system prostate       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal     Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	oligodendrocytes during process extension and myelination, minimally, in normal mature CNS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three or four copies of a 18 AA repeat
	the microtubule-binding domain in the C terminal region
	four TAU/MAP repeats

conjugated

PhosphoP

HOMOLOGY

interspecies	ortholog to Map2, Rattus norvegicus
	ortholog to Mtap2, Mus musculus
	ortholog to MAP2, Pan troglodytes

Homologene

FAMILY	MAP (mitogen activated protein) kinase family
	microtubule-associated protein family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus
text	axons, dendrites, cell bodies

basic FUNCTION	maintenance of neuronal morphology by regulating the spacing of microtubules
	involved in microtubule assembly a crucial step in neurogenesis
	linking microtubules to other elements of the cytoskeleton
	playing a role in microtubule stabilization
	playing a role primarily in neurite outgrowth during neuronal development
	may function in regulating migration of non-neuronal cells such as epithelial cells
	role in determining and stabilizing dentritic shape during neuron development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	neurogenesis

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

other,

neurosteroid pregnenolone (PREG)

protein	calmodulin
	neurosteroid receptor
	apolipoprotein E3 (APOE3)
	non-receptor tyrosine kinase Fyn
	growth factor receptor-bound protein 2(GRB2)
	MAP/microtubule affinity-regulating kinase 4 (MARK4)
	Myosin VIIA
	Plectin and IFAP-300K
	RII subunit of cAMP-dependent protein kinase

cell & other

binding to microtubule

REGULATION

Other	regulated predominantly dependent upon phosphorylation
	phosphorylated by MARK4

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   age-down regulated in the frontal cortex

Susceptibility

Variant & Polymorphism

Candidate gene	for autism and Rett-like syndrome
Marker	CALB2 and MAP2 are useful diagnostic markers for diagnosing Hirschsprung disease in rectal suction biopsies
Therapy target

ANIMAL & CELL MODELS