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Aliases for ITFG2 Gene

Aliases for ITFG2 Gene

  • Integrin Alpha FG-GAP Repeat Containing 2 2 3 5
  • Integrin-Alpha FG-GAP Repeat-Containing Protein 2 3 4
  • KICSTOR Complex Protein ITFG2 3 4
  • FG-GAP Repeat Containing 1 2 3
  • MDS028 3
  • FGGAP1 3

External Ids for ITFG2 Gene

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.

Additional gene information for ITFG2 Gene

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J002811 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 623.2 +0.5 486 3 ZNF652 SP1 ZFX CTCF ELF3 MNT NKRF POLR2A MLLT1 ZNF121 ITFG2 ITFG2-AS1 DCP1B TULP3 NRIP2
GH12J002256 Enhancer 1.3 Ensembl ENCODE dbSUPER 158.3 -555.9 -555923 1.6 ZNF473 ZNF121 IKZF1 ZNF680 ZNF704 ZNF547 ZNF488 ZNF544 ZNF300 ZNF776 ITFG2 TULP3 DCP1B CBX3P4 IQSEC3P1 ENSG00000227081 CACNA1C-AS4 NRIP2 LINC00942 CACNA1C-IT3
GH12J001924 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 113.8 -887.8 -887811 0.8 ZNF121 ZNF687 ZSCAN21 ZBTB7A YY1 SP7 ZNF548 MZF1 ZNF680 IKZF1 ITFG2 TULP3 RAD52 DCP1B LRTM2 ERC1 CBX3P4 CACNA2D4 GC12M001928
GH12J002876 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 53.7 +64.3 64345 4.7 ZFX CBFA2T2 NKRF ZNF121 CEBPG ZNF384 ZNF687 ZSCAN21 AHR TFE3 TULP3 RHNO1 FOXM1 ITFG2 DCP1B CBX3P4 NRIP2 ENSG00000227081 FKBP4 GC12M002869
GH12J002003 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 25.1 -808.7 -808720 3 SP1 ZFX ELF3 NKRF POLR2A MLLT1 ZNF121 RERE CSDE1 ZNF687 DCP1B ENSG00000203593 ITFG2 GC12M001963 CACNA1C
- 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:
ITFG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITFG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for ITFG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITFG2 Gene

Post-translational modifications for ITFG2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

genes like me logo Genes that share domains with ITFG2: view

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

Gene Ontology (GO) - Molecular Function for ITFG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ITFG2: view
genes like me logo Genes that share phenotypes with ITFG2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ITFG2

CRISPR Products

Clone Products

  • Addgene plasmids for ITFG2
  • 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

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITFG2 gene
Compartment Confidence
lysosome 5
nucleus 3
cytosol 3
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Endoplasmic reticulum (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITFG2 Gene

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 --
genes like me logo Genes that share ontologies with ITFG2: view

Pathways & Interactions for ITFG2 Gene

PathCards logo

SuperPathways for ITFG2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ITFG2 Gene

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
genes like me logo Genes that share ontologies with ITFG2: view

No data available for Pathways by source and SIGNOR curated interactions for ITFG2 Gene

Drugs & Compounds for ITFG2 Gene

No Compound Related Data Available

Transcripts for ITFG2 Gene

mRNA/cDNA for ITFG2 Gene

Unigene Clusters for ITFG2 Gene

Integrin alpha FG-GAP repeat containing 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for ITFG2
  • 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

Alternative Splicing Database (ASD) splice patterns (SP) for ITFG2 Gene

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:

Relevant External Links for ITFG2 Gene

GeneLoc Exon Structure for
ITFG2
ECgene alternative splicing isoforms for
ITFG2

Expression for ITFG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITFG2 Gene

Protein differential expression in normal tissues from HIPED 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:

ITFG2

SOURCE GeneReport for Unigene cluster for ITFG2 Gene:

Hs.446098

Evidence on tissue expression from TISSUES for ITFG2 Gene

  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with ITFG2: view

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.

Orthologs for ITFG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITFG2 34 35
  • 98.73 (n)
dog
(Canis familiaris)
Mammalia ITFG2 34 35
  • 87.76 (n)
rat
(Rattus norvegicus)
Mammalia Itfg2 34
  • 87.72 (n)
mouse
(Mus musculus)
Mammalia Itfg2 17 35 34
  • 87.13 (n)
cow
(Bos Taurus)
Mammalia ITFG2 34 35
  • 84.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 82 (a)
OneToMany
-- 35
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ITFG2 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITFG2 35 34
  • 74.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITFG2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itfg2 34
  • 67.3 (n)
zebrafish
(Danio rerio)
Actinopterygii itfg2 35 34
  • 68.86 (n)
OneToOne
Dr.17782 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2280 35
  • 38 (a)
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

genes like me logo Genes that share paralogs with ITFG2: view

No data available for Paralogs for ITFG2 Gene

Variants for ITFG2 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for ITFG2 Gene

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

Variation tolerance for ITFG2 Gene

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

  1. 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
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. 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
  4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for ITFG2 Gene

Sources for ITFG2 Gene

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