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FLASH GENE

Symbol

SH3PXD2B

contributors: mct/npt - updated : 10-11-2016

HGNC name	SH3 and PX domains 2B
HGNC id	29242

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FTHS Frank-Ter Haar syndrome
Location	5q35.1      Physical location : 171.760.504 - 171.881.527
Synonym name	adapter protein HOFI
	KIAA1295
	factor for adipocyte differentiation 49
	tyrosine kinase substrate with five Src homology 3 domains 4
Synonym symbol(s)	FLJ20831, KIAA1295, HOFI, FAD49, TKS4

DNA

TYPE	functioning gene
STRUCTURE	129.34 kb     13 Exon(s)

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_001017995 13 - 7793 NP_001017995 101 911 - 2014 24598923 NM_001308175 13 - 1601 NP_001295104 - 430 - 2014 24598923

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 Digestive mouth tongue     predominantly Reproductive female system breast mammary gland   highly Respiratory respiratory tract larynx     highly Visual eye         Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal phox homology (PX) domain
	four Src homology 3 (SH3) domains, suggesting that it may be a novel scaffold protein (Iqbal 2010)
	several proline-rich motifs
	C-terminal SH3 domain (residues 853-911)

HOMOLOGY

Homologene

FAMILY

SH3PXD2 family

CATEGORY

storage

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
text	predominantly localized to rosettes of podosomes (Buschman 2009)

basic FUNCTION	plays a crucial role in the immediate early stage of adipogenesis (Iqbal 2010)
	involved in the formation of actin-rich membrane protrusions called podosomes or invadopodia, which coordinate pericellular proteolysis with cell migration (Iqbal 2010)
	implicated in MT1-MMP recruitment and ECM degradation (Buschman 2009)
	podosomal-adaptor protein required for postnatal growth and development, particularly within physiologic contexts involving extracellular matrix regulation (Mao 2009)
	SH3PXD2B, and SH3PXD2A are also required for proper embryonic development, probably because of their roles in cell migration
	substrate of Src tyrosine kinase, implicated in the regulation of podosome formation
	new function in the regulation of growth factor-dependent cell migration
	is required for the formation of functional podosomes
	scaffold protein that plays a role in podosome formation, EGFR signaling and ROS production
	novel function in the regulation of mesenchymal stromal cells (MSCs) differentiation
	importance of adaptor proteins SH3PXD2B, and SH3PXD2A in melanoma growth and metastasis, likely via functional invadopodia formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

important component of podosomes likely to mediate protein-protein interactions with membrane-spanning metalloproteinases (Mao 2009)

INTERACTION

DNA

RNA

small molecule

protein	SH3PXD2B, SH3PXD2A directly bind to NOXA1, and the integrity of the N-terminal PRR of NOXA1 is essential for this direct interaction with the Tks proteins
	is a scaffold protein that plays a key role in regulating the actin cytoskeleton via SRC and CTTN

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FTHS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS