Aliases for ITFG2 Gene
Aliases for ITFG2 Gene
External Ids for ITFG2 Gene
- HGNC: 30879
- Entrez Gene: 55846
- Ensembl: ENSG00000111203
- OMIM: 617421
- UniProtKB: Q969R8
Previous HGNC Symbols for ITFG2 Gene
- FGGAP1
Previous GeneCards Identifiers for ITFG2 Gene
- GC12P002793
- GC12P002921
Summaries for ITFG2 Gene
GeneCards Summary for ITFG2 Gene
ITFG2 (Integrin Alpha FG-GAP Repeat Containing 2) is a Protein Coding gene.
UniProtKB/Swiss-Prot for ITFG2 Gene
-
As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITFG2 Gene
Genomics for ITFG2 Gene
GeneHancer (GH) Regulatory Elements for ITFG2 Gene
Promoters and enhancers for ITFG2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ITFG2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ITFG2 gene promoter:
-
- AML1a
- Bach1
- E47
- POU2F1
- PPAR-gamma1
- PPAR-gamma2
- Sp1
- SRF
- SRF (504 AA)
- Tal-1
Genomic Locations for ITFG2 Gene
Genomic Locations for ITFG2 Gene
- chr12:2,812,621-2,859,791
- (GRCh38/hg38)
- Size:
- 47,171 bases
- Orientation:
- Plus strand
- chr12:2,921,787-2,968,957
- (GRCh37/hg19)
- Size:
- 47,171 bases
- Orientation:
- Plus strand
Genomic View for ITFG2 Gene
Genes around ITFG2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.33 by HGNC
- 12p13.33 by Entrez Gene
- 12p13.33 by Ensembl
ITFG2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ITFG2 Gene
Proteins for ITFG2 Gene
-
Protein details for ITFG2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q969R8-ITFG2_HUMAN
- Recommended name:
- KICSTOR complex protein ITFG2
- Protein Accession:
- Q969R8
- A8K4Z5
- D3DUQ2
- Q6PKU5
- Q96SX6
Protein attributes for ITFG2 Gene
- Size:
- 447 amino acids
- Molecular mass:
- 49313 Da
- Quaternary structure:
-
- Part of the KICSTOR complex composed of KPTN, ITFG2, C12orf66 and SZT2. SZT2 probably serves as a link between the other three proteins in the KICSTOR complex and may mediate the direct interaction with the GATOR complex via GATOR1. The KICSTOR complex interacts directly with the GATOR1 complex and most probably indirectly with the GATOR2 complexe in an amino acid-independent manner.
Protein Expression for ITFG2 Gene
Post-translational modifications for ITFG2 Gene
Other Protein References for ITFG2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-ITFG2 Antibody (HPA038664) and Anti-ITFG2 Antibody (HPA038665)
- Novus Biologicals Antibodies for ITFG2
- Invitrogen Antibodies for ITFG2 (AFLGC-ITFG2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ITFG2
Protein Products
- Atlas Antibodies PrEST Antigen ITFG2 (APrEST87308) and PrEST Antigen ITFG2 (APrEST80979)
-
OriGene Purified Proteins for ITFG2
- Search Origene for MassSpec and Protein Over-expression Lysates for ITFG2
- Origene Custom Protein Services for ITFG2
-
Abcam proteins for ITFG2
No data available for DME Specific Peptides for ITFG2 Gene
Domains & Families for ITFG2 Gene
Gene Families for ITFG2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ITFG2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ITFG2 Gene
- GenScript: Design optimal peptide antigens:
-
- Integrin-alpha FG-GAP repeat-containing protein 2 (ITFG2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ITFG2 Gene
Function for ITFG2 Gene
Molecular function for ITFG2 Gene
- UniProtKB/Swiss-Prot Function:
- As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.
Phenotypes From GWAS Catalog for ITFG2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for ITFG2 Gene
- MGI mutant phenotypes for ITFG2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ITFG2:
Animal Model Products
-
Taconic Biosciences Mouse Models for ITFG2
- Cyagen custom Knockout/knockin (KOKI) mouse models for ITFG2
-
CRISPR Products
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-
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- Overview of 92 available ITFG2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITFG2
miRNA for ITFG2 Gene
- miRTarBase miRNAs that target ITFG2
miRNA Products
Inhibitory RNA Products
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- Overview of 92 available ITFG2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for ITFG2 - Now 50% OFF >
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-
- MG207058
- MR207058
- MR207058L1
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- RC200818
- RC200818L1
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- RC200818L2
- RC200818L2V
- RC200818L3
- RC200818L3V
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- RC200818L4V
- RG200818
- RR207819
- RR207819L1
- RR207819L1V
- RR207819L2
- RR207819L2V
- RR207819L3
- RR207819L3V
- RR207819L4
- RR207819L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Addgene plasmids for ITFG2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITFG2
Cell Line Products
-
Horizon Cell Lines for ITFG2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ITFG2 Gene
Localization for ITFG2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ITFG2 Gene
- Lysosome membrane. Note=Localization to lysosomes is amino acid-independent. {ECO:0000269 PubMed:28199306}.
| Compartment | Confidence |
|---|---|
| lysosome | 5 |
| nucleus | 3 |
| cytosol | 3 |
| endoplasmic reticulum | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
- Cytokinetic bridge (2)
- Endoplasmic reticulum (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IEA | -- |
| GO:0005764 | lysosome | IEA | -- |
| GO:0005765 | lysosomal membrane | IEA,IDA | 28199306 |
| GO:0005829 | cytosol | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for ITFG2 Gene
Interacting Proteins for ITFG2 Gene
GPS-Prot Interaction Network for ITFG2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002314 | germinal center B cell differentiation | IEA | -- |
| GO:0007229 | integrin-mediated signaling pathway | IEA | -- |
| GO:0034198 | cellular response to amino acid starvation | IMP | 28199306 |
| GO:0042149 | cellular response to glucose starvation | IMP | 28199306 |
| GO:1904262 | negative regulation of TORC1 signaling | IMP | 28199306 |
No data available for Pathways by source and SIGNOR curated interactions for ITFG2 Gene
Drugs & Compounds for ITFG2 Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen ITFG2 (APrEST87308) and PrEST Antigen ITFG2 (APrEST80979)
Transcripts for ITFG2 Gene
mRNA/cDNA for ITFG2 Gene
- (1) REFSEQ mRNAs :
- (22) Additional mRNA sequences :
- (547) Selected AceView cDNA sequences:
- (18) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000228799 2320 bps (ENST00000228799.6)
- ENST00000644123 1884 bps (ENST00000644123.1)
- ENST00000644517 3231 bps (ENST00000644517.1)
- ENST00000543029 1459 bps (ENST00000543029.1)
- ENST00000537851 1419 bps (ENST00000537851.5)
Unigene Clusters for ITFG2 Gene
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ITFG2 - Now 50% OFF >
- * ITFG2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ITFG2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for ITFG2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITFG2
- genomics-online: gRNA clones - Search results for 92 available ITFG2 gene related products
- Overview of 92 available ITFG2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITFG2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ITFG2
- Browse OriGene Inhibitory RNA Products For ITFG2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITFG2
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- Overview of 92 available ITFG2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for ITFG2 - Now 50% OFF >
- * ITFG2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ITFG2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG207058
- MR207058
- MR207058L1
- MR207058L1V
- MR207058L2
- MR207058L2V
- MR207058L3
- MR207058L3V
- MR207058L4
- MR207058L4V
- RC200818
- RC200818L1
- RC200818L1V
- RC200818L2
- RC200818L2V
- RC200818L3
- RC200818L3V
- RC200818L4
- RC200818L4V
- RG200818
- RR207819
- RR207819L1
- RR207819L1V
- RR207819L2
- RR207819L2V
- RR207819L3
- RR207819L3V
- RR207819L4
- RR207819L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Addgene plasmids for ITFG2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITFG2
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 13b |
|---|---|
| SP1: | |
| SP2: | |
| SP3: | |
| SP4: | |
| SP5: | |
| SP6: | |
| SP7: | |
| SP8: | |
| SP9: |
Expression for ITFG2 Gene
This gene is overexpressed in Islet of Langerhans (12.5), Spleen (11.8), Lymph node (11.2), and Testis (10.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ITFG2 Gene
NURSA nuclear receptor signaling pathways regulating expression of ITFG2 Gene:
ITFG2SOURCE GeneReport for Unigene cluster for ITFG2 Gene:
Hs.446098Evidence on tissue expression from TISSUES for ITFG2 Gene
- Nervous system(2.4)
Primer Products
-
OriGene qPCR primer pairs for ITFG2
-
OriGene qPCR primer pairs and template standards for ITFG2
- genomics-online: primer clones - Search results for 92 available ITFG2 gene related products
- Overview of 92 available ITFG2 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITFG2 Gene
Orthologs for ITFG2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ITFG2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ITFG2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Itfg2 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Itfg2 17 35 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ITFG2 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | ITFG2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ITFG2 35 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ITFG2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | itfg2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | itfg2 35 34 |
|
OneToOne | |
| Dr.17782 34 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2280 35 |
|
OneToOne | |
| Cin.1115 34 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1115 34 |
|
- Species where no ortholog for ITFG2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for ITFG2 Gene
- ENSEMBL:
- Gene Tree for ITFG2 (if available)
- TreeFam:
- Gene Tree for ITFG2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ITFG2: view image
Paralogs for ITFG2 Gene
Pseudogenes.org Pseudogenes for ITFG2 Gene
No data available for Paralogs for ITFG2 Gene
Variants for ITFG2 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs778087371 | uncertain-significance, not specified | 2,820,104(+) | A/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000043980 | -- | 2,829,941(+) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000069714 | -- | 2,851,019(+) | T/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000135508 | -- | 2,819,006(+) | C/T | intron_variant | |
| rs1000262938 | -- | 2,845,717(+) | A/T | genic_downstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv19n68 | CNV | loss | 17160897 |
| esv3628321 | CNV | gain | 21293372 |
| esv3628322 | CNV | gain | 21293372 |
| nsv826194 | CNV | gain | 20364138 |
| nsv832311 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.38;
27.24% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ITFG2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ITFG2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITFG2 Gene
Disorders for ITFG2 Gene
Additional Disease Information for ITFG2
No disorders were found for ITFG2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ITFG2 Gene
Publications for ITFG2 Gene
- KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. (PMID: 28199306) Wolfson RL … Sabatini DM (Nature 2017) 2 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
- Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
ExternalLinks
Products for ITFG2 Gene
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- OriGene qPCR primer pairs for ITFG2
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- MG207058
- MR207058
- MR207058L1
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- MR207058L3
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- Genetically Engineered Models Available Immediately
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- genomics-online: gRNA clones - Search results for 92 available ITFG2 gene related products
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- Browse GeneCopoeia Cell Lines
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Sources for ITFG2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
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