• Gene id: 8447

Gene Summary

• Gene Symbol: DOC2B   Gene   UCSC   Ensembl
• Aliases: DOC2BL
• Gene name: double C2 domain beta
• Alternate names: double C2-like domain-containing protein beta, doc2-beta, double C2-like domains, beta,
• Gene location: 17p13.3 (181649: 142788)     Exons: 13     NC_000017.11
• Gene summary(Entrez): There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene wh
• OMIM: 615626

Protein Summary

• Protein general information: Q14184  
  • Name: Double C2 like domain containing protein beta (Doc2 beta)
  • Length: 412  
  • Mass: 45922
  • Tissue specificity: Widely expressed with highest levels in brain and kidney. Expressed in pancreatic islet cells (at protein level). {ECO
• Sequence:

  MTLRRRGEKATISIQEHMAIDVCPGPIRPIKQISDYFPRFPRGLPPDAGPRAAAPPDAPARPAVAGAGRRSPSDG
  AREDDEDVDQLFGAYGSSPGPSPGPSPARPPAKPPEDEPDADGYESDDCTALGTLDFSLLYDQENNALHCTITKA
  KGLKPMDHNGLADPYVKLHLLPGASKANKLRTKTLRNTLNPTWNETLTYYGITDEDMIRKTLRISVCDEDKFRHN
  EFIGETRVPLKKLKPNHTKTFSICLEKQLPVDKTEDKSLEERGRILISLKYSSQKQGLLVGIVRCAHLAAMDANG
  YSDPYVKTYLRPDVDKKSKHKTAVKKKTLNPEFNEEFCYEIKHGDLAKKSLEVTVWDYDIGKSNDFIGGVVLGIH
  AKGERLKHWFDCLKNKDKRIERWHTLTSELPGAVLSD

• Structural information:
  • Protein Domains: (126..25-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (266..39-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR014638  IPR030534  IPR001565  
  • Prosite: PS50004
  • STRING: ENSP00000482950
• Other Databases: GeneCards:  DOC2B  Malacards:  DOC2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	ISS	biological process
GO:0045956	positive regulation of calcium ion-dependent exocytosis	ISS	biological process
GO:0031201	SNARE complex	ISS	colocalizes with
GO:0005544	calcium-dependent phospholipid binding	ISS	molecular function
GO:0032024	positive regulation of insulin secretion	ISS	biological process
GO:0031340	positive regulation of vesicle fusion	ISS	biological process
GO:0008104	protein localization	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0045956	positive regulation of calcium ion-dependent exocytosis	IEA	biological process
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031340	positive regulation of vesicle fusion	IEA	biological process
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	IEA	biological process
GO:0061669	spontaneous neurotransmitter secretion	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008104	protein localization	IEA	biological process
GO:0019905	syntaxin binding	IEA	molecular function
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component

Diseases

Associated diseases	References
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