Gene: DENND1A

Alternate names for this Gene: FAM31A|KIAA1608

Gene Summary: Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC028061.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END##

Gene is located in Chromosome: 9

Location in Chromosome : 9q33.3

Description of this Gene: DENN domain containing 1A

Type of Gene: protein-coding

rs6478623 in DENND1A gene and Anxiety PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs72755190 in DENND1A gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10818854 in DENND1A gene and Body mass index PMID 23517042 2013 Genome-wide association study of body mass index in 23 000 individuals with and without asthma.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

rs2670139 in DENND1A gene and Major Depressive Disorder PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

PMID 29700475 2018 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

rs872863 in DENND1A gene and Myopia, Degenerative PMID 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.

rs6478623 in DENND1A gene and Nervousness PMID 29500382 2018 Item-level analyses reveal genetic heterogeneity in neuroticism.

rs10818854 in DENND1A gene and Polycystic Ovary Syndrome PMID 21151128 2011 Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.

PMID 22885925 2012 Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.

PMID 21151128 2011 We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P(meta) = 7.55 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 1.73 × 10⁻²³, OR 0.67); and 9q33.3 (rs2479106, P(meta) = 8.12 × 10⁻¹⁹, OR 1.34).

PMID 30566500 2018 Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.

rs872863 in DENND1A gene and Rheumatoid Arthritis PMID 30891314 2019 Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset.

rs1752165 in DENND1A gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs77701734 in DENND1A gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.