DENND2D (DENN domain containing 2D)

Gene

• Entrez ID: 79961
• Gene name: DENN domain containing 2D
• Gene symbol: DENND2D
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p13.3-p13.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022403	hsa-miR-124-3p	Microarray	18668037
MIRT932356	hsa-miR-1225-3p	CLIP-seq
MIRT932357	hsa-miR-1233	CLIP-seq
MIRT932358	hsa-miR-2276	CLIP-seq
MIRT932359	hsa-miR-3613-3p	CLIP-seq
MIRT932360	hsa-miR-3921	CLIP-seq
MIRT932361	hsa-miR-4277	CLIP-seq
MIRT932362	hsa-miR-4303	CLIP-seq
MIRT932363	hsa-miR-4633-3p	CLIP-seq
MIRT932364	hsa-miR-4653-5p	CLIP-seq
MIRT932365	hsa-miR-4677-3p	CLIP-seq
MIRT932366	hsa-miR-4679	CLIP-seq
MIRT932367	hsa-miR-4694-3p	CLIP-seq
MIRT932368	hsa-miR-4772-3p	CLIP-seq
MIRT2211478	hsa-miR-103a	CLIP-seq
MIRT2211479	hsa-miR-107	CLIP-seq
MIRT2211480	hsa-miR-1207-5p	CLIP-seq
MIRT2211481	hsa-miR-1246	CLIP-seq
MIRT2211482	hsa-miR-127-5p	CLIP-seq
MIRT2211483	hsa-miR-1301	CLIP-seq
MIRT2211484	hsa-miR-1324	CLIP-seq
MIRT2211485	hsa-miR-1909	CLIP-seq
MIRT2211486	hsa-miR-216a	CLIP-seq
MIRT2211487	hsa-miR-3064-3p	CLIP-seq
MIRT2211488	hsa-miR-3942-5p	CLIP-seq
MIRT2211489	hsa-miR-4330	CLIP-seq
MIRT2211490	hsa-miR-4432	CLIP-seq
MIRT2211491	hsa-miR-4656	CLIP-seq
MIRT2211492	hsa-miR-4703-5p	CLIP-seq
MIRT2211493	hsa-miR-4713-3p	CLIP-seq
MIRT2211494	hsa-miR-4736	CLIP-seq
MIRT2211495	hsa-miR-4762-5p	CLIP-seq
MIRT2211496	hsa-miR-4763-3p	CLIP-seq
MIRT2211497	hsa-miR-5047	CLIP-seq
MIRT2211498	hsa-miR-619	CLIP-seq
MIRT2211499	hsa-miR-646	CLIP-seq
MIRT2515199	hsa-miR-3668	CLIP-seq
MIRT2515200	hsa-miR-4732-5p	CLIP-seq
MIRT2515201	hsa-miR-499a-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	20937701
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 33961781
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA

Other IDs

• MIM: 615111
• HGNC: 26192
• e!Ensembl: ENSG00000162777

Protein

• UniProt ID: Q9H6A0
• Protein name: DENN domain-containing protein 2D
• Protein function: Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03456	uDENN	73 → 141	uDENN domain	Domain
  PF02141	DENN	149 → 333	DENN (AEX-3) domain	Family
  PF03455	dDENN	404 → 452	dDENN domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: In bronchial mucosa, mainly expressed in ciliated and basal epithelial cells and weakly in alveolar cells (at protein level). Tends to be down-regulated in lung cancers, immortalized bronchial epithelial cell lines and precancerous les
• Sequence:

  MEGQVVGRVFRLFQRRLLQLRAGPPQDNSGEALKEPERAQEHSLPNFAGGQHFFEYLLVV
  SLKKKRSEDDYEPIITYQFPKRENLLRGQQEEEERLLKAIPLFCFPDGNEWASLTEYPRE
  TFSFVLTNVDGSRKIGYCRRLLPAGPGPRLPKVYCIISCIGCFGLFSKILDEVEKRHQIS
  MAVIYPFMQGLREAAFPAPGKTVTLKSFIPDSGTEFISLTRPLDSHLEHVDFSSLLHCLS
  FEQILQIFASAVLERKIIFLAEGLSTLSQCIHAAAALLYPFSWAHTYIPVVPESLLATVC
  CPTPFMVGVQMRFQQEVMDSPMEEVLLVNLCEGTFLMSVGDEKDILPPKLQDDILDSLGQ
  GINELKTAEQINEHVSGPFVQFFVKIVGHYASYIKREANGQGHFQERSFCKALTSKTNRR
  FVKKFVKTQLFSLFIQEAEKSKNPPAGYFQQKILEYEEQKKQKKPREKTVK

• Sequence length: 471

Pathways

Reactome:

RAB GEFs exchange GTP for GDP on RABs

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	24098497	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23182661		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30804561		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24189587		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35523764	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24189587		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24189587		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23182661		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24695972		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18677770		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18677770		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23182661, 24189587, 24317529, 24695972		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23182661, 26783084		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27929118		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24317529		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	23182661		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24695972		★☆☆☆☆ Found in Text Mining only