Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1730
Gene name	Diaphanous related formin 2
Gene symbol	DIAPH2
Synonyms (NCBI Gene)	DIADIA2DRF2POFPOF2POF2A
Chromosome	X
Chromosome location	Xq21.33
Summary	The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2.

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miRTarBase ID	miRNA	Experiments	Reference
MIRT050782	hsa-miR-17-3p	CLASH	23622248
MIRT047452	hsa-miR-10b-5p	CLASH	23622248
MIRT538081	hsa-miR-3617-5p	PAR-CLIP	22012620
MIRT538080	hsa-miR-641	PAR-CLIP	22012620
MIRT538079	hsa-miR-512-3p	PAR-CLIP	22012620
MIRT538078	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT538077	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT538076	hsa-miR-4778-3p	PAR-CLIP	22012620
MIRT538075	hsa-miR-4671-3p	PAR-CLIP	22012620
MIRT538074	hsa-miR-4473	PAR-CLIP	22012620
MIRT538073	hsa-miR-6875-3p	PAR-CLIP	22012620
MIRT538072	hsa-miR-4659a-3p	PAR-CLIP	22012620
MIRT538071	hsa-miR-4659b-3p	PAR-CLIP	22012620
MIRT538070	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT538069	hsa-miR-4520-2-3p	PAR-CLIP	22012620
MIRT538068	hsa-miR-4520-3p	PAR-CLIP	22012620
MIRT736358	hsa-miR-10b-3p	Luciferase reporter assayWestern blottingImmunofluorescenceqRT-PCR	32276641
MIRT538081	hsa-miR-3617-5p	PAR-CLIP	22012620
MIRT538080	hsa-miR-641	PAR-CLIP	22012620
MIRT538079	hsa-miR-512-3p	PAR-CLIP	22012620
MIRT538078	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT538077	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT538076	hsa-miR-4778-3p	PAR-CLIP	22012620
MIRT538075	hsa-miR-4671-3p	PAR-CLIP	22012620
MIRT538074	hsa-miR-4473	PAR-CLIP	22012620
MIRT538073	hsa-miR-6875-3p	PAR-CLIP	22012620
MIRT538072	hsa-miR-4659a-3p	PAR-CLIP	22012620
MIRT538071	hsa-miR-4659b-3p	PAR-CLIP	22012620
MIRT538070	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT538069	hsa-miR-4520-2-3p	PAR-CLIP	22012620
MIRT538068	hsa-miR-4520-3p	PAR-CLIP	22012620
MIRT935956	hsa-miR-128	CLIP-seq
MIRT935957	hsa-miR-27a	CLIP-seq
MIRT935958	hsa-miR-27b	CLIP-seq
MIRT935959	hsa-miR-3164	CLIP-seq
MIRT935960	hsa-miR-377	CLIP-seq
MIRT935961	hsa-miR-3941	CLIP-seq
MIRT935962	hsa-miR-4447	CLIP-seq
MIRT935963	hsa-miR-4472	CLIP-seq
MIRT935964	hsa-miR-4643	CLIP-seq
MIRT935965	hsa-miR-466	CLIP-seq
MIRT935966	hsa-miR-4672	CLIP-seq
MIRT935967	hsa-miR-4699-3p	CLIP-seq
MIRT935968	hsa-miR-4789-3p	CLIP-seq
MIRT935969	hsa-miR-4789-5p	CLIP-seq
MIRT935970	hsa-miR-541	CLIP-seq
MIRT935971	hsa-miR-654-5p	CLIP-seq
MIRT935972	hsa-miR-3613-5p	CLIP-seq
MIRT935973	hsa-miR-3692	CLIP-seq
MIRT935974	hsa-miR-4436b-5p	CLIP-seq
MIRT935959	hsa-miR-3164	CLIP-seq
MIRT935961	hsa-miR-3941	CLIP-seq
MIRT935962	hsa-miR-4447	CLIP-seq
MIRT935963	hsa-miR-4472	CLIP-seq
MIRT935964	hsa-miR-4643	CLIP-seq
MIRT935965	hsa-miR-466	CLIP-seq
MIRT935966	hsa-miR-4672	CLIP-seq
MIRT935968	hsa-miR-4789-3p	CLIP-seq
MIRT935970	hsa-miR-541	CLIP-seq
MIRT935971	hsa-miR-654-5p	CLIP-seq
MIRT1977011	hsa-miR-942	CLIP-seq
MIRT2212445	hsa-miR-1245b-3p	CLIP-seq
MIRT2212446	hsa-miR-3157-5p	CLIP-seq
MIRT2212447	hsa-miR-330-3p	CLIP-seq
MIRT2212448	hsa-miR-4691-3p	CLIP-seq
MIRT1977011	hsa-miR-942	CLIP-seq
MIRT2448227	hsa-miR-103a	CLIP-seq
MIRT2448228	hsa-miR-107	CLIP-seq
MIRT2448229	hsa-miR-1271	CLIP-seq
MIRT2448230	hsa-miR-182	CLIP-seq
MIRT2448231	hsa-miR-4775	CLIP-seq
MIRT2448232	hsa-miR-885-3p	CLIP-seq
MIRT2448233	hsa-miR-96	CLIP-seq
MIRT2448227	hsa-miR-103a	CLIP-seq
MIRT2448228	hsa-miR-107	CLIP-seq
MIRT2448229	hsa-miR-1271	CLIP-seq
MIRT2448230	hsa-miR-182	CLIP-seq
MIRT2448231	hsa-miR-4775	CLIP-seq
MIRT2448232	hsa-miR-885-3p	CLIP-seq
MIRT2448233	hsa-miR-96	CLIP-seq
MIRT2448227	hsa-miR-103a	CLIP-seq
MIRT2448228	hsa-miR-107	CLIP-seq
MIRT2448229	hsa-miR-1271	CLIP-seq
MIRT2448230	hsa-miR-182	CLIP-seq
MIRT2448231	hsa-miR-4775	CLIP-seq
MIRT2448232	hsa-miR-885-3p	CLIP-seq
MIRT2448233	hsa-miR-96	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005102	Function	Signaling receptor binding	TAS	9497258
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	IBA
GO:0007292	Process	Female gamete generation	TAS	9497258
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030041	Process	Actin filament polymerization	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0048477	Process	Oogenesis	IEA

MIM	HGNC	e!Ensembl
300108	2877	ENSG00000147202

O60879

Protein name

Protein diaphanous homolog 2 (Diaphanous-related formin-2) (DRF2)

Protein function

Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06371	Drf_GBD	98 → 284	Diaphanous GTPase-binding Domain	Family
PF06367	Drf_FH3	289 → 480	Diaphanous FH3 Domain	Family
PF02181	FH2	628 → 1003	Formin Homology 2 Domain	Family
PF06345	Drf_DAD	1054 → 1068	DRF Autoregulatory Domain	Motif

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes.

Sequence

MEQPGAAASGAGGGSEEPGGGRSNKRSAGNRAANEEETKNKPKLNIQIKTLADDVRDRIT
SFRKSTVKKEKPLIQHPIDSQVAMSEFPAAQPLYDERSLNLSEKEVLDLFEKMMEDMNLN
EEKKAPLRNKDFTTKREMVVQYISATAKSGGLKNSKHECTLSSQEYVHELRSGISDEKLL
NCLESLRVSLTSNPVSWVNNFGHEGLGLLLDELEKLLDKKQQENIDKKNQYKLIQCLKAF
MNNKFGLQRILGDERSLLLLARAIDPKQPNMMTEIVKILSAICIVGEENILDKLLGAITT
AAERNNRERFSPIVEGLENQEALQLQVACMQFINALVTSPYELDFRIHLRNEFLRSGLKT
MLPDLKEKENDELDIQLKVFDENKEDDLTELSHRLNDIRAEMDDMNEVYHLLYNMLKDTA
AENYFLSILQHFLLIRNDYYIRPQYYKIIEECVSQIVLHCSGMDPDFKYRQRLDIDLTHL
IDSCVNKAKVEESEQKAAEFSKKFDEEFTARQEAQAELQKRDEKIKELEAEIQQLRTQAQ
VLSSSSGIPGPPAAPPLPGVGPPPPPPAPPLPGGAPLPPPPPPLPGMMGIPPPPPPPLLF
GGPPPPPPLGGVPPPPGISLNLPYGMKQKKMYKPEVSMKRINWSKIEPTELSENCFWLRV
KEDKFENPDLFAKLALNFATQIKVQKNAEALEEKKTGPTKKKVKELRILDPKTAQNLSIF
LGSYRMPYEDIRNVILEVNEDMLSEALIQNLVKHLPEQKILNELAELKNEYDDLCEPEQF
GVVMSSVKMLQPRLSSILFKLTFEEHINNIKPSIIAVTLACEELKKSESFNRLLELVLLV
GNYMNSGSRNAQSLGFKINFLCKIRDTKSADQKTTLLHFIADICEEKYRDILKFPEELEH
VESASKVSAQILKSNLASMEQQIVHLERDIKKFPQAENQHDKFVEKMTSFTKTAREQYEK
LSTMHNNMMKLYENLGEYFIFDSKTVSIEEFFGDLNNFRTLFLEAVRENNKRREMEEKTR
RAKLAKEKAEQEKLERQKKKKQLIDINKEGDETGVMDNLLEALQSGAAFRDRRKRIPRNP
DNRRVPLERSRSRHNGAISSK

Sequence length

1101

Interactions

View interactions

	KEGG		Reactome
	Regulation of actin cytoskeleton Cytoskeleton in muscle cells		RHO GTPases Activate Formins

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
DIAPH2-related disorder	Likely benign; Benign	rs377256059, rs56682273, rs363755, rs138883597, rs20387	RCV003927230 RCV003936927 RCV003932202 RCV003979134 RCV003940577
Gastric cancer	Benign	rs56682273	RCV005871408
Nonpapillary renal cell carcinoma	Uncertain significance	rs2521653315	RCV005930943
Premature ovarian failure 2A	Uncertain significance; Benign; Likely benign	rs199871197, rs374934746, rs20374	RCV003388251 RCV003388261 RCV001262467
Sarcoma	Likely benign	rs377256059	RCV005938820

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	23339187
Esophageal Squamous Cell Carcinoma	Associate	12901795
Glioma	Associate	37349135
Hypoxia	Associate	30626726
Laryngeal Neoplasms	Associate	34299935
Leukemia Biphenotypic Acute	Associate	27121471
Macular Degeneration	Associate	21386871
Neoplasms	Associate	24126053, 34299935, 37349135
Primary Ovarian Insufficiency	Associate	21386871, 30689869

DIAPH2 (diaphanous related formin 2)