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

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)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DIAPH2-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure 2A	Uncertain significance; Benign; Likely benign	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	17549761, 21386871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	31562743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28522403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23822828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23339187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28107809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	23822828, 29902580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31352703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28990742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30495974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	12901795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	23822828, 29902580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37349135	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	28990742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	28990742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30626726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	34299935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	30793164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	21386871	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30381327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27638424, 27766697, 30416461, 31261841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29902580, 30793164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	29902580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	30381327		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary ovarian failure	Ovarian Failure	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	10894934, 17549761, 21386871, 27989800, 29179771, 29986653, 30743181, 9497258		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature Menopause	Premature Menopause	BEFREE	10894934, 16522406, 17549761, 21386871, 27989800, 28389520, 29179771, 29986653, 9497258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Ovarian Failure 2a	Premature Ovarian Failure	GENOMICS_ENGLAND_DG	9497258		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature Ovarian Failure 2a	Premature Ovarian Failure	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	BEFREE	31261841		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

DIAPH2 (diaphanous related formin 2)