INF2 (inverted formin 2)

2017-08-01  

Identity

HGNC
INF2
LOCATION
14q32.33
LOCUSID
64423
ALIAS
C14orf151,C14orf173,CMTDIE,FSGS5,pp9484
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64423
MIM: 610982
HGNC: 23791
Ensembl: ENSG00000203485

Variants:

dbSNP: 64423
ClinVar: 64423
TCGA: ENSG00000203485
COSMIC: INF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203485ENST00000252527A0A0A0MQU1
ENSG00000203485ENST00000330634Q27J81
ENSG00000203485ENST00000392634Q27J81
ENSG00000203485ENST00000398337Q27J81
ENSG00000203485ENST00000617571Q8WYS3

Expression (GTEx)

0
50
100
150
200
250
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

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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
233492932013An actin-dependent step in mitochondrial fission mediated by the ER-associated formin INF2.217
200236592010Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.166
221879852011INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.79
263055002015A mitochondria-anchored isoform of the actin-nucleating spire protein regulates mitochondrial division.62
219982042011Differential interactions of the formins INF2, mDia1, and mDia2 with microtubules.49
212580342011Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.45
230144602013Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.41
219981962011Splice variant-specific cellular function of the formin INF2 in maintenance of Golgi architecture.37
291420212018INF2-mediated actin polymerization at the ER stimulates mitochondrial calcium uptake, inner membrane constriction, and division.37
212783362011Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2).34

Citation

Dessen P

INF2 (inverted formin 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57037/inf2