Property Summary

NCBI Gene PubMed Count 29
PubMed Score 11.67
PubTator Score 17.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Myopia 99
Disease Target Count P-value
ovarian cancer 8491 6.3e-09
tuberculosis 1563 6.9e-09
osteosarcoma 7933 6.1e-08
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Polycystic Ovary Syndrome 334 5.608 2.8
Globe disease 57 0.0 2.0

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -2.461 6.1e-08
tuberculosis 2.300 6.9e-09
ovarian cancer -1.100 6.3e-09

Gene RIF (12)

PMID Text
26055712 The guanine nucleotide exchange factor activity of connecdenn 1 and 2 are autoinhibited, and this is regulated by Akt activation downstream of insulin stimulation.
25626177 We demonstrated lack of association of DENND1A SNPs rs10818854, rs2479106, and rs10986105, previously associated with PCOS in Asians, with PCOS in Bahraini Arab women.
24706793 DENND1A, plays a key role in the hyperandrogenemia associated with polycystic ovary syndrome.
24086769 sequence analysis of the DENND1A gene of patients with PCOS did not identify alterations that alone could be responsible for the PCOS pathogenesis
23208300 THADA and DENND1A, carry risk alleles that are associated with endocrine and metabolic disturbances in PCOS patients of Han Chinese descent.
22902918 Our results suggest that SNPs rs2479106 in gene DENND1A and rs13405728 in gene LHCGR are associated with endometrioid adenocarcinoma.
22547425 Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry.
22504079 The rs2479106 G allele was associated with decreased PCOS susceptibility
22180642 At least two of the PCOS susceptibility loci identified in the Chinese PCOS GWAS (DENND1A and THADA) are also associated with PCOS in European derived populations.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20583170 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MGSRIKQNPETTFEVYVEVAYPRTGGTLSDPEVQRQFPEDYSDQEVLQTLTKFCFPFYVDSLTVSQVGQN      1 - 70
FTFVLTDIDSKQRFGFCRLSSGAKSCFCILSYLPWFEVFYKLLNILADYTTKRQENQWNELLETLHKLPI     71 - 140
PDPGVSVHLSVHSYFTVPDTRELPSIPENRNLTEYFVAVDVNNMLHLYASMLYERRILIICSKLSTLTAC    141 - 210
IHGSAAMLYPMYWQHVYIPVLPPHLLDYCCAPMPYLIGIHLSLMEKVRNMALDDVVILNVDTNTLETPFD    211 - 280
DLQSLPNDVISSLKNRLKKVSTTTGDGVARAFLKAQAAFFGSYRNALKIEPEEPITFCEEAFVSHYRSGA    281 - 350
MRQFLQNATQLQLFKQFIDGRLDLLNSGEGFSDVFEEEINMGEYAGSDKLYHQWLSTVRKGSGAILNTVK    351 - 420
TKANPAMKTVYKFAKDHAKMGIKEVKNRLKQKDIAENGCAPTPEEQLPKTAPSPLVEAKDPKLREDRRPI    421 - 490
TVHFGQVRPPRPHVVKRPKSNIAVEGRRTSVPSPEQPQPYRTLRESDSAEGDEAESPEQQVRKSTGPVPA    491 - 560
PPDRAASIDLLEDVFSNLDMEAALQPLGQAKSLEDLRAPKDLREQPGTFDYQRLDLGGSERSRGVTVALK    561 - 630
LTHPYNKLWSLGQDDMAIPSKPPAASPEKPSALLGNSLALPRRPQNRDSILNPSDKEEVPTPTLGSITIP    631 - 700
RPQGRKTPELGIVPPPPIPRPAKLQAAGAALGDVSERLQTDRDRRAALSPGLLPGVVPQGPTELLQPLSP    701 - 770
GPGAAGTSSDALLALLDPLSTAWSGSTLPSRPATPNVATPFTPQFSFPPAGTPTPFPQPPLNPFVPSMPA    771 - 840
APPTLPLVSTPAGPFGAPPASLGPAFASGLLLSSAGFCAPHRSQPNLSALSMPNLFGQMPMGTHTSPLQP    841 - 910
LGPPAVAPSRIRTLPLARSSARAAETKQGLALRPGDPPLLPPRPPQGLEPTLQPSAPQQARDPFEDLLQK    911 - 980
TKQDVSPSPALAPAPDSVEQLRKQWETFE                                             981 - 1009
//

Text Mined References (37)

PMID Year Title
26055712 2015 Phosphorylation-dependent Regulation of Connecdenn/DENND1 Guanine Nucleotide Exchange Factors.
25626177 2015 DENND1A gene variants in Bahraini Arab women with polycystic ovary syndrome.
24706793 2014 Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24086769 2013 Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS).
24025145 2013 A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
23966867 2013 Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
23517042 2013 Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
23208300 2013 Genotype-phenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23049088 2012 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
22902918 2012 Variants in DENND1A and LHCGR are associated with endometrioid adenocarcinoma.
22885925 2012 Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
22547425 2012 Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry.
22504079 2012 Association of polycystic ovary syndrome susceptibility single nucleotide polymorphism rs2479106 and PCOS in Caucasian patients with PCOS or hirsutism as referral diagnosis.
22180642 2012 Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21151128 2011 Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
20937701 2010 Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.
20691247 2010 A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20583170 2010 Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
20154091 2010 The connecdenn family, Rab35 guanine nucleotide exchange factors interfacing with the clathrin machinery.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17182770 2006 Connecdenn, a novel DENN domain-containing protein of neuronal clathrin-coated vesicles functioning in synaptic vesicle endocytosis.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10997877 2000 Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.