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FLASH GENE

Symbol

BAIAP2

contributors: mct/npt/pgu - updated : 13-10-2017

HGNC name	BAI1-associated protein 2
HGNC id	947

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	82.29 kb     15 Exon(s)

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_017450 14 splicing 3188 NP_059344 58 521 - 1999 10343108 NM_006340 15 splicing 3352 NP_006331 58 520 ubiquitous 1999 10343108 short 3'utr NM_017451 15 splicing 2894 NP_059345 60.9 552 - 1999 10343108 NM_001144888 14 - 3306 NP_001138360 - 534 - 1999 10343108

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

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal inverse-BAR (Bin-amphipysin-Rvs) domain (IRSp53/MIM homology domain [IMD])
	internal SH3 domain interacting with the proline rich fragment of BAI1 and with DRPA, associating with actin regulatory proteins, including EPS8
	a GUK domain
	two WW (phosphoserine- or phosphothreonine binding) domains
	multiple PDZ domains
	a MIM homology domain (IMD) that bundles actin filaments and interacts with the small GTPase Rac
	an internal SH3 domain that associates with actin regulatory proteins, including Eps8

HOMOLOGY

interspecies

homolog to murine Baiap2

Homologene

FAMILY

MAGUK (membrane-associted guanylase kinase homolog) family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	colocalizing with BAI1
	DIAPH1 and WASF2 synergize with BAIAP2 to form filopodia

basic FUNCTION	involved in neuronal growth-cone guidance
	functioning as a insulin receptor tyrosine kinase substrate and may be having a role for insulin in the central nervous system
	scaffold protein that bundles actin filaments and interacts with the small GTPase Rac
	plays a role in filopodium dynamics by coupling actin elongation with membrane protrusion
	having an unique role as transducer of signalling, linking the protruding membrane to the underlying actin cytoskeleton
	BAIAP2 and PPP1R9B regulate localized RAC1 activation by TIAM1
	key effector of CDC42 that couples the two events essential for filopodium formation, plasma membrane protrusion and actin dynamics
	has been implicated in regulating the formation of filopodia
	MTSS2, MTSS1, BAIAP2 promote negative, concave curvature based on their ability to self-associate, having distinct functions in synapse formation and synaptic plasticity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	neuronal development

PATHWAY

metabolism

signaling

a component

formation of a NCKIPSD-BAIAP2 complex mediated through direct association of the proline-rich domain (PRD) of NCKIPSD with the SH3 domain of BAIAP2

INTERACTION

DNA

RNA

small molecule

protein	BAI1
	binding partner of LIN7B
	IQSEC2 may play roles downstream of NMDA receptors through the interaction with multivalent PSD proteins such as BAIAP2 and DLG4
	binding partner for KANK1, a kidney ankyrin repeat-containing protein that functions to suppress cell proliferation and regulate the actin cytoskeleton
	binding partner of NCKIPSD
	binds to 14-3-3 after phosphorylation in a region that lies between the CRIB and SH3 domains (association inhibiting binding of the BAIAP2 SH3 domain to proteins such as WAVE2 and EPS8 and also prevents Cdc42-GTP interaction)
	two TIAM1-interacting proteins in fibroblasts, insulin receptor substrate protein 53 kDa (BAIAP2) and PPP1R9B
	also interacts directly with WASF2 and DIAPH1 within filopodia
	interaction with the proline-rich region of WASF2 is believed to mediate WASF2 activity downstream of RAC1
	DIAPH1 and WASF2 are important SH3 domain partners of BAIAP2 involved in filopodial protrusion
	TGFBR3 is a novel regulator of BAIAP2/WAS via CDC42 to regulate filopodial formation and cell adhesion
	SH2B1 beta interacts with BAIAP2-containing complexes to increase the number of filopodia

cell & other

REGULATION

repressed by

KANK1 (negatively regulates the formation of lamellipodia by inhibiting the interaction between Rac1 and BAIAP2)

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to adulthood Attention-deficit/hyperactivity disorder (ADHD)

Variant & Polymorphism other	polymorphisms increasing the risk of adulthood ADHD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS