DOC2A (double C2 domain alpha)

2016-10-01  

Identity

HGNC
DOC2A
LOCATION
16p11.2
LOCUSID
8448
ALIAS
Doc2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
308446612019Increased expression of DOC2A in human and rat temporal lobe epilepsy.4
308446612019Increased expression of DOC2A in human and rat temporal lobe epilepsy.4
285394182017Loss of Doc2-Dependent Spontaneous Neurotransmission Augments Glutamatergic Synaptic Strength.18
285394182017Loss of Doc2-Dependent Spontaneous Neurotransmission Augments Glutamatergic Synaptic Strength.18
220365722011Doc2 is a Ca2+ sensor required for asynchronous neurotransmitter release.115
220365722011Doc2 is a Ca2+ sensor required for asynchronous neurotransmitter release.115
204891792010Strong synaptic transmission impact by copy number variations in schizophrenia.113
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
204891792010Strong synaptic transmission impact by copy number variations in schizophrenia.113
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
192425452009Association and mutation analyses of 16p11.2 autism candidate genes.45
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.176
192425452009Association and mutation analyses of 16p11.2 autism candidate genes.45
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.176

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)