DIAPH2 (diaphanous related formin 2)

2003-05-01  

Identity

HGNC
DIAPH2
LOCATION
Xq21.33
LOCUSID
1730
ALIAS
DIA,DIA2,DRF2,POF,POF2,POF2A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1730
MIM: 300108
HGNC: 2877
Ensembl: ENSG00000147202

Variants:

dbSNP: 1730
ClinVar: 1730
TCGA: ENSG00000147202
COSMIC: DIAPH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147202ENST00000324765O60879
ENSG00000147202ENST00000355827A6NML8
ENSG00000147202ENST00000373049O60879
ENSG00000147202ENST00000373054C9J6U3
ENSG00000147202ENST00000373061K4DI95

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Regulation of actin cytoskeletonKEGGko04810
Regulation of actin cytoskeletonKEGGhsa04810
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ForminsREACTOMER-HSA-5663220

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
180449912007Novel roles of formin mDia2 in lamellipodia and filopodia formation in motile cells.145
226854102012Mobilization of HIV spread by diaphanous 2 dependent filopodia in infected dendritic cells.41
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
236203982013Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling.18
244036062014Essential and nonredundant roles for Diaphanous formins in cortical microtubule capture and directed cell migration.18
287609852017Distinct functions of diaphanous-related formins regulate HIV-1 uncoating and transport.12
230247962012Dia-interacting protein (DIP) imposes migratory plasticity in mDia2-dependent tumor cells in three-dimensional matrices.10
295965202018Carcinoma associated fibroblasts (CAFs) promote breast cancer motility by suppressing mammalian Diaphanous-related formin-2 (mDia2).3
213868712011Simple strategies for haplotype analysis of the X chromosome with application to age-related macular degeneration.2
240373432014Identification of genes promoting skin youthfulness by genome-wide association study.2

Citation

Dessen P

DIAPH2 (diaphanous related formin 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40307/diaph2-(diaphanous-related-formin-2)