DENND1A (DENN domain containing 1A)

2013-02-01  

Identity

HGNC
LOCATION
9q33.3
LOCUSID
ALIAS
FAM31A,KIAA1608
FUSION GENES

Other Information

Locus ID:

NCBI: 57706
MIM: 613633
HGNC: 29324
Ensembl: ENSG00000119522

Variants:

dbSNP: 57706
ClinVar: 57706
TCGA: ENSG00000119522
COSMIC: DENND1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119522ENST00000373618Q8TEH3
ENSG00000119522ENST00000373620Q8TEH3
ENSG00000119522ENST00000373624Q8TEH3
ENSG00000119522ENST00000394215A0A0A0MS48

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
247067932014Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype.53
221806422012Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts.50
225474252012Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry.45
232083002013Genotype-phenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women.25
240867692013Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS).12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
225040792012Association of polycystic ovary syndrome susceptibility single nucleotide polymorphism rs2479106 and PCOS in Caucasian patients with PCOS or hirsutism as referral diagnosis.11
272976582016Alternative splicing of DENND1A, a PCOS candidate gene, generates variant 2.10
205831702010Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.8

Citation

Dessen P

DENND1A (DENN domain containing 1A)

Atlas Genet Cytogenet Oncol Haematol. 2013-02-01

Online version: http://atlasgeneticsoncology.org/gene/53186/dennd1a-(denn-domain-containing-1a)