• Gene id: 1730

Gene Summary

• Gene Symbol: DIAPH2   Gene   UCSC   Ensembl
• Aliases: DIA, DIA2, DRF2, POF, POF2, POF2A
• Gene name: diaphanous related formin 2
• Alternate names: protein diaphanous homolog 2, diaphanous homolog 2, diaphorase-2,
• Gene location: Xq21.33 (96684662: 97604996)     Exons: 28     NC_000023.11
• Gene summary(Entrez): 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.
• OMIM: 300108

Protein Summary

• Protein general information: O60879  
  • Name: Protein diaphanous homolog 2 (Diaphanous related formin 2) (DRF2)
  • Length: 1101  
  • Mass: 125569
  • Tissue specificity: Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes.
• Sequence:

  MEQPGAAASGAGGGSEEPGGGRSNKRSAGNRAANEEETKNKPKLNIQIKTLADDVRDRITSFRKSTVKKEKPLIQ
  HPIDSQVAMSEFPAAQPLYDERSLNLSEKEVLDLFEKMMEDMNLNEEKKAPLRNKDFTTKREMVVQYISATAKSG
  GLKNSKHECTLSSQEYVHELRSGISDEKLLNCLESLRVSLTSNPVSWVNNFGHEGLGLLLDELEKLLDKKQQENI
  DKKNQYKLIQCLKAFMNNKFGLQRILGDERSLLLLARAIDPKQPNMMTEIVKILSAICIVGEENILDKLLGAITT
  AAERNNRERFSPIVEGLENQEALQLQVACMQFINALVTSPYELDFRIHLRNEFLRSGLKTMLPDLKEKENDELDI
  QLKVFDENKEDDLTELSHRLNDIRAEMDDMNEVYHLLYNMLKDTAAENYFLSILQHFLLIRNDYYIRPQYYKIIE
  ECVSQIVLHCSGMDPDFKYRQRLDIDLTHLIDSCVNKAKVEESEQKAAEFSKKFDEEFTARQEAQAELQKRDEKI
  KELEAEIQQLRTQAQVLSSSSGIPGPPAAPPLPGVGPPPPPPAPPLPGGAPLPPPPPPLPGMMGIPPPPPPPLLF
  GGPPPPPPLGGVPPPPGISLNLPYGMKQKKMYKPEVSMKRINWSKIEPTELSENCFWLRVKEDKFENPDLFAKLA
  LNFATQIKVQKNAEALEEKKTGPTKKKVKELRILDPKTAQNLSIFLGSYRMPYEDIRNVILEVNEDMLSEALIQN
  LVKHLPEQKILNELAELKNEYDDLCEPEQFGVVMSSVKMLQPRLSSILFKLTFEEHINNIKPSIIAVTLACEELK
  KSESFNRLLELVLLVGNYMNSGSRNAQSLGFKINFLCKIRDTKSADQKTTLLHFIADICEEKYRDILKFPEELEH
  VESASKVSAQILKSNLASMEQQIVHLERDIKKFPQAENQHDKFVEKMTSFTKTAREQYEKLSTMHNNMMKLYENL
  GEYFIFDSKTVSIEEFFGDLNNFRTLFLEAVRENNKRREMEEKTRRAKLAKEKAEQEKLERQKKKKQLIDINKEG
  DETGVMDNLLEALQSGAAFRDRRKRIPRNPDNRRVPLERSRSRHNGAISSK

• Structural information:
  • Protein Domains: (98..46-)
    (/note="GBD/FH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00579-)
    (549..62-)
    (/note="FH1-)
    (628..102-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774-)
    (1051..108-)
    (/note="DAD-)
    (/evidence="ECO:0000255-)
  • Interpro: IPR011989  IPR016024  IPR014767  IPR027644  IPR010465   IPR015425  IPR042201  IPR010472  IPR014768  IPR010473  
  • Prosite: PS51231 PS51444 PS51232
  • DIP: 47261
  • STRING: ENSP00000321348
• Other Databases: GeneCards:  DIAPH2  Malacards:  DIAPH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:0017048	Rho GTPase binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0007292	female gamete generation	IEA	biological process
GO:0016043	cellular component organization	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0048477	oogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0007292	female gamete generation	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton

Diseases

Associated diseases	References
Premature ovarian failure	KEGG:H00627
Premature ovarian failure	KEGG:H00627
premature ovarian failure	PMID:9070928
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881