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SH3PXD2B (SH3 and PX domains 2B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
285590
Gene nameGene Name - the full gene name approved by the HGNC.
SH3 and PX domains 2B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SH3PXD2B
SynonymsGene synonyms aliases
FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.1
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
Causal
Disease name Disease term dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
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, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Mitral valve prolapse Mitral Valve Prolapse Syndrome rs768737101
Unknown
Disease name Disease term dbSNP ID References
Acne Acne
Bone disease Bone Diseases, Developmental 19669234
Borrone di rocco crovato syndrome Borrone Di Rocco Crovato syndrome
Camptodactyly of fingers Clinodactyly of the 5th finger

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