Aliases for C12orf66 Gene

Aliases for C12orf66 Gene

  • Chromosome 12 Open Reading Frame 66 2 3 5
  • KICSTOR Complex Protein C12orf66 3 4
  • UPF0536 Protein C12orf66 3
  • C12orf66 5
  • FLJ32549 2

External Ids for C12orf66 Gene

Previous GeneCards Identifiers for C12orf66 Gene

  • GC12M062867
  • GC12M064581
  • GC12M061638

Summaries for C12orf66 Gene

GeneCards Summary for C12orf66 Gene

C12orf66 (Chromosome 12 Open Reading Frame 66) is a Protein Coding gene. Diseases associated with C12orf66 include Epilepsy, Familial Temporal Lobe, 3.

UniProtKB/Swiss-Prot Summary for C12orf66 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 , Rfam classification and piRNA Summary for C12orf66 Gene

Genomics for C12orf66 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C12orf66 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 C12orf66 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C12orf66

Top Transcription factor binding sites by QIAGEN in the C12orf66 gene promoter:
  • AML1a
  • ATF6
  • c-Myc
  • GATA-1
  • Max
  • MIF-1
  • MyoD
  • MZF-1
  • RFX1
  • Spz1

Genomic Locations for C12orf66 Gene

Genomic Locations for C12orf66 Gene
chr12:64,186,312-64,222,296
(GRCh38/hg38)
Size:
35,985 bases
Orientation:
Minus strand
chr12:64,580,096-64,616,076
(GRCh37/hg19)
Size:
35,981 bases
Orientation:
Minus strand

Genomic View for C12orf66 Gene

Genes around C12orf66 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf66 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf66 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf66 Gene

Proteins for C12orf66 Gene

  • Protein details for C12orf66 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MD2-CL066_HUMAN
    Recommended name:
    KICSTOR complex protein C12orf66
    Protein Accession:
    Q96MD2
    Secondary Accessions:
    • C9JX54
    • Q8IYA0

    Protein attributes for C12orf66 Gene

    Size:
    445 amino acids
    Molecular mass:
    50415 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.

neXtProt entry for C12orf66 Gene

Post-translational modifications for C12orf66 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf66 Gene

No data available for DME Specific Peptides for C12orf66 Gene

Domains & Families for C12orf66 Gene

Gene Families for C12orf66 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C12orf66 Gene

Suggested Antigen Peptide Sequences for C12orf66 Gene

GenScript: Design optimal peptide antigens:
  • UPF0536 protein C12orf66 (CL066_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96MD2

UniProtKB/Swiss-Prot:

CL066_HUMAN :
  • Belongs to the UPF0536 family.
Family:
  • Belongs to the UPF0536 family.
genes like me logo Genes that share domains with C12orf66: view

Function for C12orf66 Gene

Molecular function for C12orf66 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 C12orf66 Gene

genes like me logo Genes that share phenotypes with C12orf66: view

Animal Models for C12orf66 Gene

MGI Knock Outs for C12orf66:

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf66

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C12orf66 Gene

Localization for C12orf66 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C12orf66 Gene

Lysosome membrane.

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 C12orf66 gene
Compartment Confidence
extracellular 4
lysosome 4
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lysosomes (3)
  • Cytokinetic bridge (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C12orf66 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA --
GO:0005765 lysosomal membrane IEA --
GO:0016020 membrane IEA --
GO:0045171 intercellular bridge IDA --
GO:0140007 KICSTOR complex IBA,IDA 28199306
genes like me logo Genes that share ontologies with C12orf66: view

Pathways & Interactions for C12orf66 Gene

PathCards logo

SuperPathways for C12orf66 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C12orf66 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034198 cellular response to amino acid starvation IMP 28199306
GO:0042149 cellular response to glucose starvation IBA,IMP 28199306
GO:0061462 protein localization to lysosome IBA,IMP 28199306
GO:1904262 negative regulation of TORC1 signaling IBA,IMP 28199306
genes like me logo Genes that share ontologies with C12orf66: view

No data available for Pathways by source and SIGNOR curated interactions for C12orf66 Gene

Drugs & Compounds for C12orf66 Gene

No Compound Related Data Available

Transcripts for C12orf66 Gene

mRNA/cDNA for C12orf66 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf66

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf66 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5
SP1: - - -
SP2: - -
SP3: -
SP4:

Relevant External Links for C12orf66 Gene

GeneLoc Exon Structure for
C12orf66

Expression for C12orf66 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf66 Gene

Protein differential expression in normal tissues from HIPED for C12orf66 Gene

This gene is overexpressed in Liver, secretome (43.2), Peripheral blood mononuclear cells (15.1), and Adipocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C12orf66 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf66

SOURCE GeneReport for Unigene cluster for C12orf66 Gene:

Hs.505871

Evidence on tissue expression from TISSUES for C12orf66 Gene

  • Spleen(4.1)
genes like me logo Genes that share expression patterns with C12orf66: 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 C12orf66 Gene

Orthologs for C12orf66 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C12orf66 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C12H12orf66 30
  • 99.78 (n)
C12orf66 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C12orf66 31
  • 97 (a)
OneToOne
C10H12orf66 30
  • 92.88 (n)
Cow
(Bos Taurus)
Mammalia C5H12orf66 30 31
  • 92.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1565498 30
  • 89.51 (n)
Mouse
(Mus musculus)
Mammalia BC048403 30 17 31
  • 89.21 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C12orf66 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C12orf66 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C12orf66 31
  • 93 (a)
OneToOne
C1H12ORF66 30
  • 83.3 (n)
Lizard
(Anolis carolinensis)
Reptilia C12orf66 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c12orf66 30
  • 75.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23915 30
Zebrafish
(Danio rerio)
Actinopterygii C4H12orf66 31
  • 74 (a)
OneToOne
si:ch211-125a15.1 30
  • 71.94 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10480 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToOne
Species where no ortholog for C12orf66 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 C12orf66 Gene

ENSEMBL:
Gene Tree for C12orf66 (if available)
TreeFam:
Gene Tree for C12orf66 (if available)

Paralogs for C12orf66 Gene

No data available for Paralogs for C12orf66 Gene

Variants for C12orf66 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C12orf66 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
776729 Benign: not provided 64,215,782(-) T/C MISSENSE_VARIANT
790663 Benign: not provided 64,193,904(-) C/G MISSENSE_VARIANT
790664 Benign: not provided 64,194,115(-) G/A SYNONYMOUS_VARIANT
rs2335390 - p.Met139Ile
rs699638 - p.Ala443Ser

Additional dbSNP identifiers (rs#s) for C12orf66 Gene

Structural Variations from Database of Genomic Variants (DGV) for C12orf66 Gene

Variant ID Type Subtype PubMed ID
esv1536875 CNV insertion 17803354
esv3629769 CNV loss 21293372
nsv1111074 CNV tandem duplication 24896259
nsv1129161 CNV insertion 24896259
nsv1141213 CNV duplication 24896259

Variation tolerance for C12orf66 Gene

Residual Variation Intolerance Score: 28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C12orf66 Gene

Human Gene Mutation Database (HGMD)
C12orf66
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf66

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf66 Gene

Disorders for C12orf66 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C12orf66 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epilepsy, familial temporal lobe, 3
  • etl3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C12orf66

genes like me logo Genes that share disorders with C12orf66: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C12orf66 Gene

Publications for C12orf66 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Discovery and Characterization of ZUFSP/ZUP1, a Distinct Deubiquitinase Class Important for Genome Stability. (PMID: 29576527) Kwasna D … Kulathu Y (Molecular cell 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for C12orf66 Gene

Sources for C12orf66 Gene