Entity Details

Primary name SPD2B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionA1X283
EntryNameSPD2B_HUMAN
FullNameSH3 and PX domain-containing protein 2B
TaxID9606
Evidenceevidence at protein level
Length911
SequenceStatuscomplete
DateCreated2007-12-04
DateModified2021-06-02

Ontological Relatives

GenesSH3PXD2B

GO terms

Show/Hide Table
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

Subcellular Location

Show/Hide Table
Subcellular Location
Cell projection
Cytoplasm

Domains

Show/Hide Table
DomainNameCategoryType
IPR001452 SH3 domainDomainDomain
IPR001683 Phox homologyDomainDomain
IPR030512 SH3 and PX domain-containing protein 2BFamilyFamily
IPR035477 SH3PXD2B, SH3 domain 1DomainDomain
IPR035478 SH3PXD2B, SH3 domain 2DomainDomain
IPR035479 SH3PXD2B, SH3 domain 3DomainDomain
IPR035480 SH3PXD2B, SH3 domain 4DomainDomain
IPR036028 SH3-like domain superfamilyFamilyHomologous superfamily
IPR036871 PX domain superfamilyFamilyHomologous superfamily
IPR037961 SH3PXD2, PX domainDomainDomain

Diseases

Show/Hide Table
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.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
SPD2B_HUMANTNFL6_HUMANBioGRID, IntAct19807924 details
SPD2B_HUMANSPD2B_HUMANMINT18959745 details
SPD2B_HUMANSH3K1_HUMANBioGRID19531213 details