DOC2A (double C2 domain alpha)

2016-10-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
Doc2
FUSION GENES

Other Information

Locus ID:

NCBI: 8448
MIM: 604567
HGNC: 2985
Ensembl: ENSG00000149927

Variants:

dbSNP: 8448
ClinVar: 8448
TCGA: ENSG00000149927
COSMIC: DOC2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149927ENST00000350119Q14183
ENSG00000149927ENST00000561671I3L194
ENSG00000149927ENST00000563125H3BU41
ENSG00000149927ENST00000563378H3BSH4
ENSG00000149927ENST00000564944Q14183
ENSG00000149927ENST00000564979Q14183
ENSG00000149927ENST00000565273H3BTI1
ENSG00000149927ENST00000566310Q14183
ENSG00000149927ENST00000567332H3BNF7
ENSG00000149927ENST00000574405I3L3P9
ENSG00000149927ENST00000616445Q14183

Expression (GTEx)

0
10
20
30
40
50
60
70

References

Pubmed IDYearTitleCitations
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
220365722011Doc2 is a Ca2+ sensor required for asynchronous neurotransmitter release.86
204891792010Strong synaptic transmission impact by copy number variations in schizophrenia.84
192425452009Association and mutation analyses of 16p11.2 autism candidate genes.35
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
285394182017Loss of Doc2-Dependent Spontaneous Neurotransmission Augments Glutamatergic Synaptic Strength.11
308446612019Increased expression of DOC2A in human and rat temporal lobe epilepsy.0

Citation

Dessen P

DOC2A (double C2 domain alpha)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56480/doc2a-(double-c2-domain-alpha)