Gene: DENND1B

Alternate names for this Gene: C1ORF18|C1orf218|FAM31B

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 DENND1B, 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].

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3

Description of this Gene: DENN domain containing 1B

Type of Gene: protein-coding

rs16841904 in DENND1B gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs2488401 in DENND1B 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.

rs1775456 in DENND1B gene and Asthma PMID 21907864 2011 Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.

rs16841904 in DENND1B gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs16841904 in DENND1B gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs2488389 in DENND1B gene and Inflammatory Bowel Diseases PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs12118513 in DENND1B gene and Major Depressive Disorder PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

PMID 27479909 2016 Identification of 15 genetic loci associated with risk of major depression in individuals of European descent.

PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

rs1539414 in DENND1B gene and Primary biliary cirrhosis PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

rs16841904 in DENND1B gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs16841904 in DENND1B gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.