• Gene id: 8448

Gene Summary

• Gene Symbol: DOC2A   Gene   UCSC   Ensembl
• Aliases: Doc2
• Gene name: double C2 domain alpha
• Alternate names: double C2-like domain-containing protein alpha, doc2-alpha, double C2-like domains, alpha,
• Gene location: 16p11.2 (30023279: 30005513)     Exons: 11     NC_000016.10
• 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 whic
• OMIM: 604567

Protein Summary

• Protein general information: Q14183  
  • Name: Double C2 like domain containing protein alpha (Doc2) (Doc2 alpha)
  • Length: 400  
  • Mass: 43959
  • Tissue specificity: Predominantly expressed in brain. Also expressed in testis. {ECO
• Sequence:

  MRGRRGDRMTINIQEHMAINVCPGPIRPIRQISDYFPRGPGPEGGGGGGGEAPAHLVPLALAPPAALLGATTPED
  GAEVDSYDSDDATALGTLEFDLLYDRASCTLHCSILRAKGLKPMDFNGLADPYVKLHLLPGACKANKLKTKTQRN
  TLNPVWNEDLTYSGITDDDITHKVLRIAVCDEDKLSHNEFIGEIRVPLRRLKPSQKKHFNICLERQVPLASPSSM
  SAALRGISCYLKELEQAEQGQGLLEERGRILLSLSYSSRRRGLLVGILRCAHLAAMDVNGYSDPYVKTYLRPDVD
  KKSKHKTCVKKKTLNPEFNEEFFYEIELSTLATKTLEVTVWDYDIGKSNDFIGGVSLGPGARGEARKHWSDCLQQ
  PDAALERWHTLTSELPPAAGALSSA

• Structural information:
  • Protein Domains: (89..21-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (251..38-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR014638  IPR030535  IPR001565  
  • Prosite: PS50004
  • PDB: 4MJJ
  • PDBsum: 4MJJ
  • STRING: ENSP00000340017
• Other Databases: GeneCards:  DOC2A  Malacards:  DOC2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017158	regulation of calcium ion-dependent exocytosis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0017158	regulation of calcium ion-dependent exocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017158	regulation of calcium ion-dependent exocytosis	IEA	biological process
GO:0061669	spontaneous neurotransmitter secretion	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:0098850	extrinsic component of synaptic vesicle membrane	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray