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
388447232024DIAPH2 gene polymorphisms and laryngeal cancer risk in men.0
388447232024DIAPH2 gene polymorphisms and laryngeal cancer risk in men.0
342999352021DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.5
342999352021DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.5
305934402019Association between early embryo morphokinetics plus cumulus cell gene expression and assisted reproduction outcomes in polycystic ovary syndrome women.9
307931642019DIAPH2 alterations increase cellular motility and may contribute to the metastatic potential of laryngeal squamous cell carcinoma.8
305934402019Association between early embryo morphokinetics plus cumulus cell gene expression and assisted reproduction outcomes in polycystic ovary syndrome women.9
307931642019DIAPH2 alterations increase cellular motility and may contribute to the metastatic potential of laryngeal squamous cell carcinoma.8
295965202018Carcinoma associated fibroblasts (CAFs) promote breast cancer motility by suppressing mammalian Diaphanous-related formin-2 (mDia2).19
295965202018Carcinoma associated fibroblasts (CAFs) promote breast cancer motility by suppressing mammalian Diaphanous-related formin-2 (mDia2).19
287609852017Distinct functions of diaphanous-related formins regulate HIV-1 uncoating and transport.35
287609852017Distinct functions of diaphanous-related formins regulate HIV-1 uncoating and transport.35
240373432014Identification of genes promoting skin youthfulness by genome-wide association study.5
244036062014Essential and nonredundant roles for Diaphanous formins in cortical microtubule capture and directed cell migration.31
240373432014Identification of genes promoting skin youthfulness by genome-wide association study.5

Citation

Dessen P

DIAPH2 (diaphanous related formin 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40307/js/meetings/css/template-nav.css