KICS2 (KICSTOR subunit 2)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
144577
Gene name Gene Name - the full gene name approved by the HGNC.
KICSTOR subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KICS2
Synonyms (NCBI Gene) Gene synonyms aliases
C12orf66, MRT83
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q14.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0005764 Component Lysosome IDA
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
GO:0005765 Component Lysosomal membrane NAS 28199306
GO:0005765 Component Lysosomal membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617420 26517 ENSG00000174206
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96MD2
Protein name KICSTOR subunit 2 (KICSTOR complex protein C12orf66)
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
PF09404 C12orf66_like 7 → 444 KICSTOR complex C12orf66 like Family
Sequence
Sequence length 445
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Amino acids regulate mTORC1
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC