Gene Gene information from NCBI Gene database.
Entrez ID 55846
Gene name Integrin alpha FG-GAP repeat containing 2
Gene symbol ITFG2
Synonyms (NCBI Gene)
FGGAP1KICS3MDS028
Chromosome 12
Chromosome location 12p13.33
miRNA miRNA information provided by mirtarbase database.
67
miRTarBase ID miRNA Experiments Reference
MIRT532425 hsa-miR-3169 PAR-CLIP 22012620
MIRT532424 hsa-miR-3190-5p PAR-CLIP 22012620
MIRT532423 hsa-miR-5580-5p PAR-CLIP 22012620
MIRT532422 hsa-miR-1288-3p PAR-CLIP 22012620
MIRT532421 hsa-miR-4529-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0002314 Process Germinal center B cell differentiation IEA
GO:0005515 Function Protein binding IPI 33961781, 38288086
GO:0005654 Component Nucleoplasm IEA
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IDA 28199306
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617421 30879 ENSG00000111203
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969R8
Protein name KICSTOR complex protein ITFG2 (Integrin-alpha FG-GAP repeat-containing protein 2)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15907 Itfg2 49 386 Integrin-alpha FG-GAP repeat-containing protein 2 Family
Sequence
Sequence length 447
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations