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 |
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 |
|
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, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142 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, 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 View all (29 more) |
|
Mitral valve prolapse |
Mitral Valve Prolapse Syndrome |
rs768737101 |
|
Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
|
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
|
|
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 |
Intracranial Hypertension |
Associate
|
23140272 |
Neoplasm Metastasis |
Associate
|
33906640 |
Neoplasms |
Associate
|
33906640 |
Neoplasms Adipose Tissue |
Associate
|
35955935 |
Neoplasms Bone Tissue |
Associate
|
35955935 |
Squamous Cell Carcinoma of Head and Neck |
Stimulate
|
33879222 |
Ter Haar syndrome |
Associate
|
23140272, 24105366, 35205281, 35955935 |
|