Property Summary

NCBI Gene PubMed Count 14
PubMed Score 15.22
PubTator Score 12.03

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (1)

Disease Target Count P-value
posterior fossa group A ependymoma 1511 6.30318398805029E-18
glioblastoma 5572 6.3490784791216E-10
pediatric high grade glioma 2712 3.03712639036985E-7
ulcerative colitis 2087 2.24368057390345E-6
interstitial cystitis 2299 2.64101645126703E-5
pilocytic astrocytoma 3086 1.12980357270833E-4
sonic hedgehog group medulloblastoma 1482 1.36330517304162E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 1.51851732218891E-4
pituitary cancer 1972 1.59033427416311E-4
psoriasis 6685 2.36538192191602E-4
osteosarcoma 7933 4.92040203026604E-4
medulloblastoma, large-cell 6234 7.14384500096577E-4
Breast cancer 3099 7.20555965559817E-4
invasive ductal carcinoma 2950 0.00118587971802098
oligodendroglioma 2849 0.00142221352273227
subependymal giant cell astrocytoma 2287 0.00281190456645577
astrocytic glioma 2241 0.00333328497912513
ovarian cancer 8492 0.00998658333789826
head and neck cancer 270 0.0149245497318782
head and neck cancer and chronic obstructive pulmonary disease 237 0.0176676862713964
ductal carcinoma in situ 1745 0.0314168653425084
active Crohn's disease 918 0.0363656872453465

Synonym

Accession Q14184 Doc2-beta
Symbols DOC2BL

Gene

  Ortholog (5)

Species Source
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Opossum OMA Inparanoid

Gene RIF (3)

PMID Text
24570007 promoter hypermethylation and silencing of the DOC2B gene is an early and frequent event during cervical carcinogenesis and whose reduced expression due to DNA promoter methylation may lead to selective cervical tumor growth
22036572 Study analyzed Doc2alpha and Doc2beta and found that Doc2 responds to changes in [Ca2+], with markedly slower kinetics as compared to the cytosolic domain of syt I (syt), and operates on a timescale consistent with asynchronous neurotransmitter release.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MTLRRRGEKATISIQEHMAIDVCPGPIRPIKQISDYFPRFPRGLPPDAGPRAAAPPDAPARPAVAGAGRR      1 - 70
SPSDGAREDDEDVDQLFGAYGSSPGPSPGPSPARPPAKPPEDEPDADGYESDDCTALGTLDFSLLYDQEN     71 - 140
NALHCTITKAKGLKPMDHNGLADPYVKLHLLPGASKANKLRTKTLRNTLNPTWNETLTYYGITDEDMIRK    141 - 210
TLRISVCDEDKFRHNEFIGETRVPLKKLKPNHTKTFNICLEKQLPVDKTEDKSLEERGRILISLKYSSQK    211 - 280
QGLLVGIVRCAHLAAMDANGYSDPYVKTYLRPDVDKKSKHKTAVKKKTLNPEFNEEFCYEIKHGDLAKKS    281 - 350
LEVTVWDYDIGKSNDFIGGVVLGIHAKGERLKHWFDCLKNKDKRIERWHTLTSELPGAVLSD            351 - 412
//

Text Mined References (16)

PMID Year Title
24570007 2014 DNA promoter methylation-dependent transcription of the double C2-like domain ? (DOC2B) gene regulates tumor growth in human cervical cancer.
22036572 2011 Doc2 is a Ca2+ sensor required for asynchronous neurotransmitter release.
21502085 2011 Genome-wide association study implicates PARD3B-based AIDS restriction.
21220648 2011 Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17548353 2007 Doc2beta is a novel Munc18c-interacting partner and positive effector of syntaxin 4-mediated exocytosis.
12621583 2003 Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
10488064 1999 Transient, phorbol ester-induced DOC2-Munc13 interactions in vivo.
9804756 1998 Interaction of Doc2 with tctex-1, a light chain of cytoplasmic dynein. Implication in dynein-dependent vesicle transport.
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