• Gene id: 10045

Gene Summary

• Gene Symbol: SH2D3A   Gene   UCSC   Ensembl
• Aliases: NSP1
• Gene name: SH2 domain containing 3A
• Alternate names: SH2 domain-containing protein 3A, novel SH2-containing protein 1,
• Gene location: 19p13.3 (6767512: 6752159)     Exons: 10     NC_000019.10
• OMIM: 605251

Protein Summary

• Protein general information: Q9BRG2  
  • Name: SH2 domain containing protein 3A (Novel SH2 containing protein 1)
  • Length: 576  
  • Mass: 63093
  • Tissue specificity: Weakly expressed in placenta, fetal kidney, fetal lung, adult pancreas, adult kidney and adult lung. {ECO
• Sequence:

  MQVPQDGEDLAGQPWYHGLLSRQKAEALLQQNGDFLVRASGSRGGNPVISCRWRGSALHFEVFRVALRPRPGRPT
  ALFQLEDEQFPSIPALVHSYMTGRRPLSQATGAVVSRPVTWQGPLRRSFSEDTLMDGPARIEPLRARKWSNSQPA
  DLAHMGRSREDPAGMEASTMPISALPRTSSDPVLLKAPAPLGTVADSLRASDGQLQAKAPTKPPRTPSFELPDAS
  ERPPTYCELVPRVPSVQGTSPSQSCPEPEAPWWEAEEDEEEENRCFTRPQAEISFCPHDAPSCLLGPQNRPLEPQ
  VLHTLRGLFLEHHPGSTALHLLLVDCQATGLLGVTRDQRGNMGVSSGLELLTLPHGHHLRLELLERHQTLALAGA
  LAVLGCSGPLEERAAALRGLVELALALRPGAAGDLPGLAAVMGALLMPQVSRLEHTWRQLRRSHTEAALAFEQEL
  KPLMRALDEGAGPCDPGEVALPHVAPMVRLLEGEEVAGPLDESCERLLRTLHGARHMVRDAPKFRKVAAQRLRGF
  RPNPELREALTTGFVRRLLWGSRGAGAPRAERFEKFQRVLGVLSQRLEPDR

• Structural information:
  • Protein Domains: (15..11-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191"-)
  • Interpro: IPR023578  IPR001895  IPR036964  IPR000980  IPR036860  
  • Prosite: PS50001
  • STRING: ENSP00000245908
• Other Databases: GeneCards:  SH2D3A  Malacards:  SH2D3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IBA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0007254	JNK cascade	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray