FMN2 (formin 2)

2013-05-01  

Identity

HGNC
LOCATION
1q43
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 56776
MIM: 606373
HGNC: 14074
Ensembl: ENSG00000155816

Variants:

dbSNP: 56776
ClinVar: 56776
TCGA: ENSG00000155816
COSMIC: FMN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155816ENST00000319653Q9NZ56
ENSG00000155816ENST00000441342B0QZD5
ENSG00000155816ENST00000447095B0QZA8
ENSG00000155816ENST00000543681Q2M1H5
ENSG00000155816ENST00000545751A0A0A0MTF8

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Dorso-ventral axis formationKEGGko04320
Dorso-ventral axis formationKEGGhsa04320

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
262874802015DNA damage induces nuclear actin filament assembly by Formin -2 and Spire-½ that promotes efficient DNA repair. [corrected].54
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
196053602009Identification of a short Spir interaction sequence at the C-terminal end of formin subgroup proteins.28
233755022013Identification and functional characterization of FMN2, a regulator of the cyclin-dependent kinase inhibitor p21.21
217058042011Molecular basis of actin nucleation factor cooperativity: crystal structure of the Spir-1 kinase non-catalytic C-lobe domain (KIND)•formin-2 formin SPIR interaction motif (FSI) complex.20
199554712010Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study.18
254800352014Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

FMN2 (formin 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53299/fmn2