SH3PXD2B (SH3 and PX domains 2B)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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285590 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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SH3PXD2B |
SynonymsGene synonyms aliases
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FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4 |
ChromosomeChromosome number
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5 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q35.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
rs149519060 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs186443822 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
rs267607046 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs367543284 |
C>T |
Pathogenic |
Splice donor variant |
rs369555721 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs775217258 |
T>G |
Pathogenic |
Splice acceptor variant |
rs780292269 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, intron variant |
rs794728005 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
rs794728006 |
C>- |
Pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
rs886042037 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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Sequence length |
911 |
Interactions |
View interactions |
Associated diseases
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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 |
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Frank-ter haar syndrome |
Frank-Ter Haar syndrome |
rs794728005, rs794728006, rs267607046, rs775217258, rs367543284 |
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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 |
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Mitral valve prolapse |
Mitral Valve Prolapse Syndrome |
rs768737101 |
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Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
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Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Acne |
Acne |
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Bone disease |
Bone Diseases, Developmental |
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19669234 |
Borrone di rocco crovato syndrome |
Borrone Di Rocco Crovato syndrome |
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Camptodactyly of fingers |
Clinodactyly of the 5th finger |
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Congenital clubfoot |
Congenital clubfoot |
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Congenital exomphalos |
Congenital exomphalos |
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Congenital genu recurvatum |
Congenital genu recurvatum |
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Congenital pectus excavatum |
Congenital pectus excavatum |
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Glaucoma, congenital |
Hydrophthalmos |
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Gynecomastia |
Gynecomastia |
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High palate |
Byzanthine arch palate |
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Macrostomia |
Macrostomia |
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Malocclusion |
Class III malocclusion |
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Micrognathism |
Micrognathism |
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Osteopenia |
Osteopenia |
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Proptosis |
Exophthalmos |
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Ter haar syndrome |
Ter Haar syndrome |
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23140272, 20137777, 7158646 |
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