DENND2A (DENN domain containing 2A)

Gene

• Entrez ID: 27147
• Gene name: DENN domain containing 2A
• Gene symbol: DENND2A
• Synonyms (NCBI Gene): FAM31D, KIAA1277
• Chromosome: 7
• Chromosome location: 7q34

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045332	hsa-miR-185-5p	CLASH	23622248
MIRT1976056	hsa-miR-1304	CLIP-seq
MIRT1976057	hsa-miR-204	CLIP-seq
MIRT1976058	hsa-miR-211	CLIP-seq
MIRT1976059	hsa-miR-2467-5p	CLIP-seq
MIRT1976060	hsa-miR-3188	CLIP-seq
MIRT1976061	hsa-miR-3929	CLIP-seq
MIRT1976062	hsa-miR-3975	CLIP-seq
MIRT1976063	hsa-miR-4419b	CLIP-seq
MIRT1976064	hsa-miR-4446-5p	CLIP-seq
MIRT1976065	hsa-miR-4478	CLIP-seq
MIRT1976066	hsa-miR-4755-5p	CLIP-seq
MIRT1976067	hsa-miR-4780	CLIP-seq
MIRT1976068	hsa-miR-485-5p	CLIP-seq
MIRT1976069	hsa-miR-623	CLIP-seq
MIRT1976056	hsa-miR-1304	CLIP-seq
MIRT1976057	hsa-miR-204	CLIP-seq
MIRT1976058	hsa-miR-211	CLIP-seq
MIRT1976059	hsa-miR-2467-5p	CLIP-seq
MIRT1976060	hsa-miR-3188	CLIP-seq
MIRT1976061	hsa-miR-3929	CLIP-seq
MIRT2211469	hsa-miR-3942-3p	CLIP-seq
MIRT1976062	hsa-miR-3975	CLIP-seq
MIRT1976063	hsa-miR-4419b	CLIP-seq
MIRT1976064	hsa-miR-4446-5p	CLIP-seq
MIRT1976065	hsa-miR-4478	CLIP-seq
MIRT2211470	hsa-miR-4717-5p	CLIP-seq
MIRT2211471	hsa-miR-4733-3p	CLIP-seq
MIRT2211472	hsa-miR-4753-5p	CLIP-seq
MIRT1976066	hsa-miR-4755-5p	CLIP-seq
MIRT1976067	hsa-miR-4780	CLIP-seq
MIRT1976068	hsa-miR-485-5p	CLIP-seq
MIRT1976069	hsa-miR-623	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:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IDA	20937701
GO:0042147	Process	Retrograde transport, endosome to Golgi	IBA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	20937701

Other IDs

• MIM: 620120
• HGNC: 22212
• e!Ensembl: ENSG00000146966

Protein

• UniProt ID: Q9ULE3
• Protein name: DENN domain-containing protein 2A
• 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. May play a role in late endosomes back to trans-Golgi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03456	uDENN	584 → 652	uDENN domain	Domain
  PF02141	DENN	660 → 844	DENN (AEX-3) domain	Family
  PF03455	dDENN	929 → 976	dDENN domain	Domain

• Sequence:

  MDMFSLDMIISDPAAEASRAGKKQLRGVQNPCPSARARPRHKSLNIKDKISEWEGKKEVP
  TPAPSRRADGQEDYLPSSTVERRSSDGVRTQVTEAKNGMRPGTESTEKERNKGAVNVGGQ
  DPEPGQDLSQPEREVDPSWGRGREPRLGKLRFQNDPLSVLKQVKKLEQALKDGSAGLDPQ
  LPGTCYSPHCPPDKAEAGSTLPENLGGGSGSEVSQRVHPSDLEGREPTPELVEDRKGSCR
  RPWDRSLENVYRGSEGSPTKPFINPLPKPRRTFKHAGEGDKDGKPGIGFRKEKRNLPPLP
  SLPPPPLPSSPPPSSVNRRLWTGRQKSSADHRKSYEFEDLLQSSSESSRVDWYAQTKLGL
  TRTLSEENVYEDILDPPMKENPYEDIELHGRCLGKKCVLNFPASPTSSIPDTLTKQSLSK
  PAFFRQNSERRNFKLLDTRKLSRDGTGSPSKISPPSTPSSPDDIFFNLGDPQNGRKKRKI
  PKLVLRINAIYEVRRGKKRVKRLSQSMESNSGKVTDENSESDSDTEEKLKAHSQRLVNVK
  SRLKQAPRYPSLARELIEYQERQLFEYFVVVSLHKKQAGAAYVPELTQQFPLKLERSFKF
  MREAEDQLKAIPQFCFPDAKDWVPVQQFTSETFSFVLTGEDGSRRFGYCRRLLPGGKGKR
  LPEVYCIVSRLGCFSLFSRILDEVEKRRGISPALVQPLMRSVMEAPFPALGKTILVKNFL
  PGSGTEVIELCRPLDSRLEHVDFESLFSSLSVRHLVCVFASLLLERRVIFIADKLSILSK
  CCHAMVALIYPFAWQHTYIPVLPPAMVDIVCSPTPFLIGLLSSSLPLLRELPLEEVLVVD
  LVNSRFLRQMDDEDSILPRKLQVALEHILEQRNELACEQDEGPLDGRHGPESSPLNEVVS
  EAFVRFFVEIVGHYSLFLTSGEREERTLQREAFRKAVSSKSLRHFLEVFMETQMFRGFIQ
  ERELRRQDAKGLFEVRAQEYLETLPSGEHSGVNKFLKGLGNKMKFLHKK

• Sequence length: 1009

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Developmental Disabilities	Developmental disability	Pubtator	35174982	Associate	★☆☆☆☆ Found in Text Mining only