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FLASH GENE

Symbol

ADD2

contributors: mct - updated : 27-11-2013

HGNC name	adducin 2 (beta)
HGNC id	244

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	107.04 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif	Viral sequence   gene pol
text structure	has a very tight regulation of alternative polyadenylation

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	ADD2 beta 1, principal expression tissue specific variable of AT

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001617 16 splicing 4033 NP_001608 - 726 highest expression in brain, fetal liver, and kidney 2003 12951058 AAD2 beta-1 by passing exons 13b and 15 NM_017482 13 splicing 3826 NP_059516 - 559 ? 2003 12951058 AAD2 beta-2 excluding exons 14 and 17 AAD2 beta-3a - splicing 3014 - 420 ? 2003 12951058 by passing exons 7b-12a, exons 13b, 15 AAD2 beta-3b - splicing 1058 - 258 ? 2003 12951058 by passing exons 7b-12a, excluding exons 14-17 NM_017488 17 splicing 4119 NP_059522 - 643 highest expression in brain, fetal liver, and kidney 2003 12951058 AAD2 beta-4 by passing exon 13b an in-frame insertion of 21 nucleotides upstream exon 15 predicting a 7 amino acids longer protein with a similar C-terminus region NM_001185054 16 splicing 3787 NP_001171983 - 726 ? 2003 12951058 AAD2 beta-5a NM_001185055 12 splicing 3707 NP_001171984 - 575 - 2003 12951058 AAD2 beta-6a AAD2 beta-6b - splicing 1833 - 246 - 2003 12951058 ,

EXPRESSION

Type	restricted

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         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte Homo sapiens Blood/Hematopoietic leukocyte Homo sapiens Blood/Hematopoietic platelet Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal globular protease-resistent domain
	a potential protein kinase C phosphorylation site
	a calmodulin binding site
	a C terminus homolog to MARCKS proteins

mono polymer

heteromer , dimer

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory , structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton
text	mRNA encoding beta-adducin is also located in dendrites

basic FUNCTION	adducin beta, actin accessory protein, calmodulin binding protein, promoting association of spectrin with actin and caping the fast growing end of actin filaments
	very high levels of expression in erythropoiesis suggest that its promoter may be useful for directing erythroid-specific gene expression
	is required for stable assembly of new synapses and improved memory upon environmental enrichment
	ACTB and ADD2 are membrane cytoskeletal proteins, involved in synaptic function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituent of the erythrocyte membrane skeleton

INTERACTION

DNA

RNA

small molecule

protein	with the SH2 domain of FYN (translocation under plasma membrane)
	VPS13A interacts with beta-adducin (ADD2) and beta-actin (ACTB)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       result in damage to renal artery myogenic tone and this is associated with renal damage as manifest by proteinuria

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

beta-adducin (Add2) KO mice show synaptic plasticity, motor coordination and behavioral deficits accompanied by changes in the expression and phosphorylation levels of the alpha- and gamma-adducin subunits