Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
285590
Gene name Gene Name - the full gene name approved by the HGNC.
SH3 and PX domains 2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SH3PXD2B
Synonyms (NCBI Gene) Gene synonyms aliases
FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FTHS
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61755907 G>A,T Pathogenic Coding sequence variant, stop gained, synonymous variant
rs140209484 G>A,C Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, intron variant
rs143850475 G>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, intron variant
rs144228973 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, intron variant
rs148050566 G>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018269 hsa-miR-335-5p Microarray 18185580
MIRT001847 hsa-miR-1-3p Microarray 18668037
MIRT001847 hsa-miR-1-3p Microarray 15685193
MIRT495195 hsa-miR-6758-5p PAR-CLIP 23708386
MIRT495193 hsa-miR-6856-5p PAR-CLIP 23708386
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IMP 20137777
GO:0001654 Process Eye development IMP 20137777
GO:0002102 Component Podosome ISS
GO:0005515 Function Protein binding IPI 19755710, 20609497
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613293 29242 ENSG00000174705
Protein
UniProt ID A1X283
Protein name SH3 and PX domain-containing protein 2B (Adapter protein HOFI) (Factor for adipocyte differentiation 49) (Tyrosine kinase substrate with four SH3 domains)
Protein 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-dep
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00787 PX 31 125 PX domain Domain
PF00018 SH3_1 158 203 SH3 domain Domain
PF00018 SH3_1 227 272 SH3 domain Domain
PF00018 SH3_1 374 419 SH3 domain Domain
PF07653 SH3_2 854 910 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fibroblasts. {ECO:0000269|PubMed:20137777}.
Sequence
MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFP
MEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQ
FFETR
PEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVD
IIEKNESGWWFVSTAEEQGWVPA
TCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEM
NLERGAVVEVIQKNLEGWWKIRYQGKEGWAPA
SYLKKNSGEPLPPKPGPGSPSHPGALDL
DGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNL
PKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEKNLSGWWYIQIEDKEGWAPAT
FIDKYKKTSNASRPNFLAPLPHEVTQLRLGEAAALENNTGSEATGPSRPLPDAPHGVMDS
GLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPRKESIIKSEGELLERE
RERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGH
KVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPFLKSRPQVRPKPAPSPKTEPPQGEDQ
VDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQDVAFSRSFLPGEGPGRAQDRTGKQDGLS
PKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQRPVVPPRRPPPPKKTSSSSRPLPEVRG
PQCEGHESRAAPTPGRALLVPPKAKPFLSNSLGGQDDTRGKGSLGPWGTGKIGENREKAA
AASVPNADGLKDSLYVAVADFEGDKDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEG
WIPSNYLRKK
P
Sequence length 911
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Frank-ter haar syndrome Frank-Ter Haar syndrome rs794728005, rs794728006, rs267607046, rs775217258, rs367543284
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Mitral valve prolapse Mitral Valve Prolapse Syndrome rs768737101
Unknown
Disease term Disease name Evidence References Source
Oligodendroglioma Oligodendroglioma GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35918384
Carcinoma Hepatocellular Stimulate 33906640
Cardio Renal Syndrome Associate 24105366
Colorectal Neoplasms Associate 20943948
Cryptorchidism Associate 26209787
Developmental Disabilities Associate 35955935
Focal Epithelial Hyperplasia of the Oral Mucosa Associate 33879222
Genetic Diseases Inborn Associate 23140272
Glioma Associate 36932446
Heart Defects Congenital Associate 35955935