Entity Details

Primary name SH3PXD2B
Entity type gene
Source Source Link

Details

PrimaryID285590
RefseqGeneNG_027746
SymbolSH3PXD2B
NameSH3 and PX domains 2B
Chromosome5
Location5q35.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-12-14
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsSPD2B_HUMAN

GO terms

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GOName
GO:0001501 skeletal system development
GO:0001654 eye development
GO:0002102 podosome
GO:0005737 cytoplasm
GO:0006801 superoxide metabolic process
GO:0007507 heart development
GO:0010314 phosphatidylinositol-5-phosphate binding
GO:0016176 superoxide-generating NADPH oxidase activator activity
GO:0022617 extracellular matrix disassembly
GO:0030054 cell junction
GO:0030154 cell differentiation
GO:0032266 phosphatidylinositol-3-phosphate binding
GO:0042169 SH2 domain binding
GO:0042995 cell projection
GO:0060090 molecular adaptor activity
GO:0060348 bone development
GO:0060612 adipose tissue development
GO:0071800 podosome assembly
GO:0072657 protein localization to membrane
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding

Diseases

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Disease IDSourceNameDescription
249420 OMIMFrank-Ter Haar syndrome (FTHS)A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. The disease is caused by variants affecting the gene represented in this entry.