INF2 Gene
protein-coding GIFtS: 48
GC14P085353
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inverted formin, FH2 and WH2 domain containing
(Previous names: chromosome 14 open reading frame 151, chromosome 14 open reading frame 173 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: C14orf151, C14orf173)
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Aliases &
Descriptions
for INF2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| inverted formin, FH2 and WH2 domain containing1 2 | | chromosome 14 open reading frame 1731 | | C14orf1732 3 5 | | OTTHUMP000001834682 | | MGC132511 2 | | DKFZp762A02142 | | C14orf1512 3 | | FLJ220562 | | HBEBP2-binding protein C2 3 | | pp94842 | | FSGS52 5 | | HBEAG-binding protein 2 binding protein C2 | | chromosome 14 open reading frame 1511 | | inverted formin-22 |
Export aliases for INF2 gene to outside databasesPrevious GC identifers: GC14P104245 GC14P105155 |
Summaries
for INF2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for INF2:
This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to thepresence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similarmouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization ofactin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.
UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81Function: Severs actin filaments and accelerates their polymerization and depolymerization (By similarity)
Gene Wiki entry for INF2 (C14orf173) |
Genomic Views
for INF2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for INF2
Other transcription factors
Search SABiosciences Chromatin IP Primers for INF2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for INF2  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q32.33 Ensembl cytogenetic band: 14q32.33 HGNC cytogenetic band: 14q32.33INF2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P085353: view genomic region
(about GC identifiers)
Start:
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85,353,176 bp from pter |
End:
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85,383,080 bp from pter |
Size:
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29,905 bases |
Orientation:
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plus strand |
1 alternative location:
| Chr14+ 105,155,943-105,185,947 |
RefSeq DNA sequence:- NC_000014.8 NT_026437.12
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Proteins
for INF2 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81 (See
protein sequence)Recommended Name: Inverted formin-2 Size: 1249 amino acids; 135624 Da
Subunit: Interacts with actin at the FH2 domain (By similarity)
Subcellular location: Cytoplasm, perinuclear region
Sequence caution: Sequence=AAH08756.2; Type=Erroneous initiation; Sequence=AAH64828.1; Type=Erroneous initiation;Sequence=ABD59343.1; Type=Erroneous initiation; Sequence=ABD59344.1; Type=Erroneous initiation; Sequence=ABD59345.1;Type=Erroneous initiation; Sequence=BAB15224.1; Type=Erroneous termination; Positions=636, 759; Note=Translated asLys, Gln; Sequence=EAW81872.1; Type=Erroneous gene model prediction;
Secondary accessions: Q27J83 Q69YL8 Q6P1X7 Q6PK22 Q86TR7 Q9BRM1 Q9H6N1Alternative splicing: 3 isoforms: Q27J81-1 Q27J81-2 Q27J81-3 Explore the universe of human proteins at neXtProt for INF2: NX_Q27J81
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (3 alternative transcripts):
NP_001026884.3 NP_071934.3 NP_116103.1
ENSEMBL proteins: ENSP00000410725 ENSP00000381380 ENSP00000344000 ENSP00000252520 ENSP00000376406 ENSP00000376410 ENSP00000252527
Human Recombinant Proteins
4 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
INF2 for ontologies About GeneDecksing
Antibodies for INF2:
Assays for INF2: |
Protein
Domains/
Families
for INF2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
INF2 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q27J81ProtoNet protein and cluster: Q27J81 1 Blocks protein family: IPB003104 Actin-binding FH2
UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81Domain: The WH2 domain acts as the DAD (diaphanous autoregulatory) domain and binds to actin monomers (By similarity)Domain: Regulated by autoinhibition due to intramolecular GBD-DAD binding (By similarity)Domain: The severing activity is dependent on covalent attachment of the FH2 domain to the C-terminus (By similarity)Similarity: Belongs to the formin homology familySimilarity: Contains 1 FH2 (formin homology 2) domainSimilarity: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domainSimilarity: Contains 1 WH2 domain |
Gene Function
for INF2 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81Function: Severs actin filaments and accelerates their polymerization and depolymerization (By similarity)Enzyme regulation: Phosphate inhibits both the depolymerization and severing activities
4 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
INF2 for ontologies About GeneDecksing
|
Pathways & Interactions
for INF2 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Custom Pathway-Focused PCR Arrays for INF2
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for INF2
1 Interacting protein for INF2 (Q27J812) via UniProtKB, MINT, and/or STRINGAbout this table
3 Gene Ontology (GO) biological process terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008152 | metabolic process |
-- | -- | | GO:0016043 | cellular component organization |
IEA | -- | | GO:0030036 | actin cytoskeleton organization |
IEA | -- |
About this table
INF2 for ontologies About GeneDecksing
|
Drugs & Compounds
for INF2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for INF2
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Transcripts
for INF2 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for INF2 gene (3 alternative transcripts): NM_001031714.3 NM_022489.3 NM_032714.2 Additional cDNA sequence: AF318379.1 AK025709.1 AK027105.1 AK225325.1 AK290083.1 AL832905.1 BC006173.1 BC008756.2 BC064828.1 BX248757.1 CR612331.1 DQ395338.1 DQ395339.1 DQ499599.1 15 DOTS entries: DT.92463730 DT.100790959 DT.421490 DT.100649163 DT.97812386 DT.301828 DT.120773363 DT.100000609 DT.120773338 DT.92023265 DT.95364216 DT.97847264 DT.99929124 DT.120773361 DT.91871257 24/250 AceView cDNA sequences (see all 250): AI380054 BI767269 AW297976 AW291558 AW136722 BM781687 BG056925 AI860458 BX479267 BI767270 BM830175 BQ005261 BP360445 AA327244 BE888234 BU633644 BM053072 BQ877818 BG820892 AI391455 AI524635 BM710966 BM738319 AW006121 Unigene Cluster for INF2: Inverted formin, FH2 and WH2 domain containing Hs.24956 [show with all ESTs]Unigene Representative Sequence: NM_022489
GeneLoc Exon Structure
11 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000450528 ENST00000398337(uc001yoy.3 uc001ypa.2) ENST00000339008
ENST00000252520 ENST00000330634(uc001ypc.2) ENST00000481338 ENST00000477497
ENST00000474229 ENST00000392634(uc001ypb.2 uc010awz.1 uc010tyi.1)
ENST00000252527 ENST00000480763
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Expression
for INF2 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| INF2 expression in normal and diseased human tissues
1 / 2 11 probe-sets matching INF2 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 64049_at2
|
U95-C |
1 |
1.00 |
1.00 |
0.67 |
1.39 |
-- |
-- |
-- |
-- |
-- |
| 77350_at2
|
U95-E |
1 |
0.69 |
1.00 |
0.58 |
0.77 |
-- |
-- |
-- |
-- |
-- |
| 89691_at2
|
U95-E |
1 |
0.50 |
1.00 |
0.90 |
0.86 |
-- |
-- |
-- |
-- |
-- |
| 218144_s_at2
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 222534_s_at2
|
U133-B |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 222535_at2
|
U133-B |
1 |
0.55 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 224469_s_at2
|
U133-B |
1 |
0.36 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 218144_s_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 222534_s_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 222535_at2
|
U133Plus2 |
1 |
0.55 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 224469_s_at2
|
U133Plus2 |
1 |
0.36 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
INF2 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TCCAGCCCCT
SOURCE GeneReport for Unigene cluster: Hs.24956
UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81Tissue specificity: Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells
SABiosciences Custom PCR Arrays for INF2
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Orthologs
for INF2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for INF2 gene from 5/7 species (see all 7)
About this table Species with no ortholog for INF2
ENSEMBL Gene Tree for INF2 (if available) |
Paralogs
for INF2 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for INF2 gene
- FMN12 FHOD32 FMN22 FHOD12 GRID2IP2
INF2 for paralogs About GeneDecksing
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Genomic Variants
for INF2 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 14 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for INF2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for INF2
8 CNVs: 53213 29964 59556 49290 49291 29963 29962 53064 | | QIAGEN SeqTarget long-range PCR primers for resequencing INF2 |
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Disorders & Mutations
for INF2 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
INF2 for disorders About GeneDecksing
OMIM: 610982 disorders: 613237 UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81
Defects in INF2 are the cause of focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]. A renalpathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerularfiltration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid staterequiring either dialysis therapy or kidney transplantationHuman Gene Mutation Database (HGMD): INF2
Export disorders and mutations for INF2 gene to outside databases
|
Medical News
for INF2 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for INF2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/19 PubMed articles for INF2 gene, integrated from 7 sources (see all 19):
(articles sorted by number of sources associating them with INF2)- Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. (PubMed id 20023659)1, 2 Brown E.J.... Pollak M.R. (2010)
- INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization. (PubMed id 16818491)1, 3 Chhabra E.S. and Higgs H.N. (2006)
- Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. (PubMed id 18318008)2 Han G.... Gu J. (2008)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)2 Olsen J.V....Mann M. (2006)
- Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. (PubMed id 15203218)1 Fu G.K....Stuve L.L. (2004)
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External Searches for INF2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing INF2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing INF2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing INF2 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for INF2 gene:
Search GeneIP for patents involving INF2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for INF2 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
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 |  |  |  | |
| |  | Search Tocris compounds for INF2 |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for INF2 |
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