InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: INF2

Summary

InnateDB Protein

IDBP-233294.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

INF2

Protein Name

inverted formin, FH2 and WH2 domain containing

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000381380

InnateDB Gene

IDBG-115563 (INF2)

Protein Structure

UniProt Annotation

Function

Severs actin filaments and accelerates their polymerization and depolymerization. {ECO:0000250}.

Subcellular Localization

Cytoplasm, perinuclear region {ECO:0000269PubMed:20023659}.

Disease Associations

Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269PubMed:20023659, ECO:0000269PubMed:22971997}. Note=The disease is caused by mutations affecting the gene represented in this entry.Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end- stage renal disease, and a characteristic histologic pattern on renal biopsy. {ECO:0000269PubMed:22187985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells. {ECO:0000269PubMed:20023659}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005488	binding
GO:0017048	Rho GTPase binding

Biological Process

GO:0008219	cell death
GO:0016043	cellular component organization
GO:0030036	actin cytoskeleton organization
GO:0090140	regulation of mitochondrial fission

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005783	endoplasmic reticulum
GO:0048471	perinuclear region of cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR010472 Formin, FH3 domain
IPR010473 Formin, GTPase-binding domain
IPR016024 Armadillo-type fold

PFAM

PF06367
PF06371

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q27J81

PhosphoSite

PhosphoSite-Q27J81

TrEMBL

UniProt Splice Variant

Entrez Gene

64423

UniGene

Hs.702916

RefSeq

NP_116103

HUGO

HGNC:23791

OMIM

610982

CCDS

CCDS41999

HPRD

08648

IMGT

EMBL

AK025709 AK290083 AL583722 AL832905 BC006173 BC008756 BC064828 BX248757 CH471061 DQ395338 DQ395339 DQ395340

GenPept

AAH06173 AAH08756 AAH64828 ABD59343 ABD59344 ABD59345 BAB15224 BAF82772 CAD66564 CAH10628 EAW81872