Gene Gene information from NCBI Gene database.
Entrez ID 285590
Gene name SH3 and PX domains 2B
Gene symbol SH3PXD2B
Synonyms (NCBI Gene)
FAD49FTHSHOFIKIAA1295TKS4TSK4
Chromosome 5
Chromosome location 5q35.1
Summary 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.
15
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.
585
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IMP 20137777
GO:0001654 Process Eye development IEA
GO:0001654 Process Eye development IMP 20137777
GO:0002102 Component Podosome IEA
GO:0002102 Component Podosome ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613293 29242 ENSG00000174705
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
295
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Frank-Ter Haar syndrome Likely pathogenic; Pathogenic rs2113311300, rs794728005, rs794728006, rs267607046, rs775217258, rs367543284 RCV001783742
RCV000000211
RCV000000212
RCV000000213
RCV000000214
RCV000201206
SH3PXD2B-related disorder Pathogenic rs753161047 RCV003898704
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs13356223, rs74870739, rs77955907 RCV005917235
RCV005923552
RCV005898976
Adrenocortical carcinoma, hereditary Benign rs77955907 RCV005898978
Cervical cancer Benign rs116315878, rs74870739, rs3204110, rs77955907 RCV005917327
RCV005923553
RCV005898973
RCV005898979
Colon adenocarcinoma Conflicting classifications of pathogenicity rs199739437 RCV005902564
Associations from Text MiningDisease associations identified through Pubtator
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