• Gene id: 285590

Gene Summary

• Gene Symbol: SH3PXD2B   Gene   UCSC   Ensembl
• Aliases: FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4
• Gene name: SH3 and PX domains 2B
• Alternate names: SH3 and PX domain-containing protein 2B, adapter protein HOFI, adaptor protein HOFI, factor for adipocyte differentiation 49, tyrosine kinase substrate with four SH3 domains,
• Gene location: 5q35.1 (172454524: 172325180)     Exons: 15     NC_000005.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: A1X283  
  • Name: SH3 and PX domain containing protein 2B (Adapter protein HOFI) (Factor for adipocyte differentiation 49) (Tyrosine kinase substrate with four SH3 domains)
  • Length: 911  
  • Mass: 101579
  • Tissue specificity: Expressed in fibroblasts. {ECO
• Sequence:

  MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPF
  LPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVD
  PMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEK
  YTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDL
  DGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYT
  IAEFQTTIPDGISFQAGLKVEVIEKNLSGWWYIQIEDKEGWAPATFIDKYKKTSNASRPNFLAPLPHEVTQLRLG
  EAAALENNTGSEATGPSRPLPDAPHGVMDSGLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPR
  KESIIKSEGELLERERERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGH
  KVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPFLKSRPQVRPKPAPSPKTEPPQGEDQVDICNLRSKLRPAKS
  QDKSLLDGEGPQAVGGQDVAFSRSFLPGEGPGRAQDRTGKQDGLSPKEISCRAPPRPAKTTDPVSKSVPVPLQEA
  PQQRPVVPPRRPPPPKKTSSSSRPLPEVRGPQCEGHESRAAPTPGRALLVPPKAKPFLSNSLGGQDDTRGKGSLG
  PWGTGKIGENREKAAAASVPNADGLKDSLYVAVADFEGDKDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEG
  WIPSNYLRKKP

• Structural information:
  • Protein Domains: (5..12-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147-)
    (152..21-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (221..28-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (3-)
  • Interpro: IPR001683  IPR036871  IPR036028  IPR001452  IPR037961   IPR030512  IPR035477  IPR035478  IPR035479  IPR035480  
  • Prosite: PS50195 PS50002
  • CDD: cd06888 cd12075 cd12076 cd12078 cd12018
  • STRING: ENSP00000309714
• Other Databases: GeneCards:  SH3PXD2B  Malacards:  SH3PXD2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IBA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IBA	molecular function
GO:0010314	phosphatidylinositol-5-phosphate binding	IBA	molecular function
GO:0006801	superoxide metabolic process	IBA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IBA	molecular function
GO:0016176	superoxide-generating NADPH oxidase activator activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071800	podosome assembly	ISS	biological process
GO:0060612	adipose tissue development	ISS	biological process
GO:0002102	podosome	ISS	cellular component
GO:0071800	podosome assembly	IEA	biological process
GO:0001654	eye development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0060348	bone development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001501	skeletal system development	IEA	biological process
GO:0002102	podosome	IEA	cellular component
GO:0010314	phosphatidylinositol-5-phosphate binding	IEA	molecular function
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0045600	positive regulation of fat cell differentiation	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0051496	positive regulation of stress fiber assembly	IEA	biological process
GO:0060378	regulation of brood size	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0070273	phosphatidylinositol-4-phosphate binding	IEA	molecular function
GO:0071800	podosome assembly	IEA	biological process
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IEA	molecular function
GO:0001654	eye development	IEA	biological process
GO:0002051	osteoblast fate commitment	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IEA	molecular function
GO:0042169	SH2 domain binding	IEA	molecular function
GO:0060348	bone development	IEA	biological process
GO:1904179	positive regulation of adipose tissue development	IEA	biological process
GO:1904888	cranial skeletal system development	IEA	biological process
GO:0002102	podosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0072657	protein localization to membrane	IDA	biological process
GO:0006801	superoxide metabolic process	IDA	biological process
GO:0060348	bone development	IMP	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	ISS	molecular function
GO:0022617	extracellular matrix disassembly	IMP	biological process
GO:0001501	skeletal system development	IMP	biological process
GO:0042169	SH2 domain binding	ISS	molecular function
GO:0032266	phosphatidylinositol-3-phosphate binding	ISS	molecular function
GO:0007507	heart development	IMP	biological process
GO:0001654	eye development	IMP	biological process
GO:0010314	phosphatidylinositol-5-phosphate binding	ISS	molecular function

Diseases

Associated diseases	References
Frank-ter Haar syndrome	KEGG:H01816
Frank-ter Haar syndrome	KEGG:H01816
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq