Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

DIAPH2

contributors: mct - updated : 18-02-2014

HGNC name	diaphanous homolog 2 (Drosophila)
HGNC id	2877

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	POF2A premature ovarian failure 2A
Location	Xq21.33      Physical location : 95.939.661 - 96.855.596
Synonym name	diaphorase-2
	diaphanous-related formin-2
Synonym symbol(s)	POF2, DIA, DRF2, POF, DIA2, Dia3, Diap2, FLJ11167

DNA

TYPE	functioning gene
STRUCTURE	915.94 kb     29 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

in the DFN2 region

RNA

TRANSCRIPTS	type	messenger

text	four splice variants producing two protein isoforms, three transcript ubiquitously and fourth adult testis specific

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_007309 27 splicing 3782 NP_009293 124.8 1096 - 2007 18044991 DIAPH-12C different C terminus and 3'UTR NM_006729 28 splicing 4983 NP_006720 125.6 1101 - 2007 18044991 DIAPH2-156 different C terminus and 3'UTR DIA2C - - - - - . being cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes 2007 18044991 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 interactions with the actin cytoskeleton binding to RhoD

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine         intestine large intestine colon   highly   liver         Reproductive female system uterus cervix   moderately   female system placenta     moderately   female system ovary         male system prostate         male system testis     moderately Respiratory lung           respiratory tract larynx     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal Rho binding domain
	central polyproline stretches
	a C terminal formin homology domain (FH)
	a GTPase-binding domain (GBD)
	three formin homology domains (FH1, 2 and 3)
	a DRF autoregulatory domain (DAD)

HOMOLOGY

interspecies	homolog to Drosophila diaphanous 2
	ortholog to murine Diap2
	homolog to C.elegans y48g9a.l

Homologene

FAMILY	FH1 protein family
	FH2 protein family
	formin homology family
	diaphanous subfamily

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus
text	continuously shuttles between the nucleus and the cytoplasm using specific nuclear transport machinery composing of importin-alpha/beta and CRM1

basic FUNCTION	playing a role in development and normal function of the ovary
	affecting cytokinesis and other actin-mediated morphogenetic processes required in early steps of development
	could be involved in oogenesis
	regulate the motility of early endosomes through interactions with the actin cytoskeleton
	plays an important role in formation of lamellipodia by nucleating and/or protecting from capping lamellipodial actin filaments, which subsequently exhibit high tendency to converge into filopodia
	DIAPH2 and FMNL1 mediate the formation of highly elastic F-actin networks as effectively and rapidly as alpha-actinin and filamin
	DIAPH1, DIAPH2, DIAPH3 are implicated in mitosis and cytokinesis
	DIAPH1, DIAPH2 are strong inducers of lamellipodia/membrane ruffles and neurite outgrowth
	DIAPH2, DIAPH3 might be involved in the initiation stage of filopodium formation and not the elongation stage or that they might play an indirect role
	DIAPH2, DAAM1, FMNL1, and FMNL2 were found to be required for myofibrillogenesis, non-redundantly

CELLULAR PROCESS	cell life, differentiation
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

development , reproduction/sex

text	cell shape and cell size control oogenesis

PATHWAY

metabolism

signaling

signal transduction

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 interactions with the actin cytoskeleton

a component

INTERACTION

DNA

RNA

small molecule

protein	APC2 binds DIAPH2 directly through a region of APC2 not previously shown to interact with DIAPH2-related formins
	interaction between DIAPH2 and ANLN is required for the localization and function of DIAPH2 in cytokinesis
	TOM1 is required for DIAPH2 ubiquitination and degradation during G1 and G2/M phases of the cell cycle, whereas the DIAPH2 protein is stabilized during S phase
	RHOD activated by FGF signaling forms cytoneme-like protrusions through activation of DIAPH2, which induces actin filament formation
	ZP3 regulates AKT1 phosphorylation, lamin binding to the nuclear membrane via AIPL1, and organization of the actin cytoskeleton via DIAPH2

cell & other

REGULATION

Other

regulated by intramolecular GBD-DAD binding

ASSOCIATED DISORDERS

corresponding disease(s)

POF2A

Susceptibility

to age-related macular degeneration (AMD) to premature ovarian failure

Variant & Polymorphism SNP	five SNPs over a 272 kb region associated with AMD

Candidate gene	DFN2, POF2
Marker
Therapy target

ANIMAL & CELL MODELS