DIAPH2 (diaphanous related formin 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1730
Gene name Gene Name - the full gene name approved by the HGNC.
Diaphanous related formin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DIAPH2
Synonyms (NCBI Gene) Gene synonyms aliases
DIA, DIA2, DRF2, POF, POF2, POF2A
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(87)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300108 2877 ENSG00000147202
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Regulation of actin cytoskeleton
Cytoskeleton in muscle cells 		  RHO GTPases Activate Formins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Premature Ovarian Failure premature ovarian failure 2a, premature ovarian failure 2A N/A N/A ClinVar, GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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