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Gene : SH3PXD2B Homo sapiens

Name  ? SH3 and PX domains 2B Cytological Location  5q35.1
Brief Description  SH3 and PX domains 2B
description  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 are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
  • synonyms:
  • HOFI,
  • FLJ20831,
  • FAD49,
  • uc003mbr.3,
  • FTHS,
  • KIAA1295,
  • SH3PXD2B,
  • NM_017963,
  • HGNC:29242,
  • AK095834,
  • TSK4,
  • OTTHUMG00000163280,
  • TKS4,
  • KIAA1295
  • identifiers:
  • 285590,
  • ENSG00000174705,
  • SH3PXD2B

Genome feature

Region: gene ? Length: 129345  
Location: 5:172325181-172454525 reverse strand Cyto location: 5q35.1

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Orthologues


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

3756 SN Ps

5 Cross References

18 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results