SH3PXD2B
entrez
285590
canonical
uniprot
A1X283
canonical
ensembl
ENSG00000174705
resolver
ensp
ENSP00000309714
resolver
ensp
ENSP00000430890
resolver
ensp
ENSP00000641183
resolver
enst
ENST00000311601
resolver
enst
ENST00000519643
resolver
genesymbol
SH3PXD2B
resolver
genesymbol_syn
FAD49
resolver
genesymbol_syn
KIAA1295
resolver
genesymbol_syn
TKS4
resolver
hgnc
HGNC:29242
resolver
uniprot
B6F0V2
resolver
uniprot
G3V144
resolver
uniprot
Q9P2Q1
resolver
uniprot_entry
G3V144_HUMAN
resolver
uniprot_entry
SPD2B_HUMAN
resolver
uniprot_sec
B6F0V2
resolver
uniprot_sec
Q9P2Q1
resolver
amino_acid_sequence
MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEKNLSGWWYIQIEDKEGWAPATFIDKYKKTSNASRPNFLAPLPHEVTQLRLGEAAALENNTGSEATGPSRPLPDAPHGVMDSGLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPRKESIIKSEGELLERERERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGHKVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPFLKSRPQVRPKPAPSPKTEPPQGEDQVDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQDVAFSRSFLPGEGPGRAQDRTGKQDGLSPKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQRPVVPPRRPPPPKKTSSSSRPLPEVRGPQCEGHESRAAPTPGRALLVPPKAKPFLSNSLGGQDDTRGKGSLGPWGTGKIGENREKAAAASVPNADGLKDSLYVAVADFEGDKDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEGWIPSNYLRKKP
uniprot
proteins
disease_involvement
DISEASE: Frank-Ter Haar syndrome (FTHS) [MIM:249420]: A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. {ECO:0000269|PubMed:20137777}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity). {ECO:0000250, ECO:0000269|PubMed:12615925, ECO:0000269|PubMed:19755710, ECO:0000269|PubMed:20609497}.
uniprot
proteins
mass_dalton
101579
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in SRC-transformed cells. {ECO:0000250}.
uniprot
proteins
protein_family
SH3PXD2 family
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
12615925
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18959745
uniprot
proteins
pubmed
19755710
uniprot
proteins
pubmed
19807924
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20137777
uniprot
proteins
pubmed
20609497
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
24129315
uniprot
proteins
sequence_length
911
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection, podosome {ECO:0000250}. Note=Cytoplasmic in normal cells and localizes to podosomes in SRC-transformed cells. {ECO:0000250}.
uniprot
proteins