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    KICS2 KICSTOR subunit 2 [ Homo sapiens (human) ]

    Gene ID: 144577, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KICS2provided by HGNC
    Official Full Name
    KICSTOR subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:26517
    See related
    Ensembl:ENSG00000174206 MIM:617420; AllianceGenome:HGNC:26517
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C12orf66
    Summary
    Involved in several processes, including cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Located in intercellular bridge and lysosome. Part of KICSTOR complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.7), spleen (RPKM 2.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KICS2 in Genome Data Viewer
    Location:
    12q14.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (64186316..64222296, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (64165109..64201106, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (64580096..64616076, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SLIT-ROBO Rho GTPase activating protein 1 Neighboring gene uncharacterized LOC105369801 Neighboring gene Sharpr-MPRA regulatory region 2861 Neighboring gene uncharacterized LOC105369798 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:64574933-64576132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6586 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:64589609-64590204 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:64608983-64609180 Neighboring gene RNA, U6 small nuclear 1009, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:64615884-64616478 Neighboring gene uncharacterized LOC124902952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6591 Neighboring gene RNA, U5A small nuclear 7, pseudogene Neighboring gene chromosome 12 open reading frame 56 Neighboring gene OOEP pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. Li L, et al. BMC Genomics, 2014 Feb 1. PMID 24483146, Free PMC Article
    2. KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. Wolfson RL, et al. Nature, 2017 Mar 16. PMID 28199306, Free PMC Article
    3. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
    4. Discovery and Characterization of ZUFSP/ZUP1, a Distinct Deubiquitinase Class Important for Genome Stability. Kwasna D, et al. Mol Cell, 2018 Apr 5. PMID 29576527, Free PMC Article
    5. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. Vizeacoumar FJ, et al. Mol Syst Biol, 2013 Oct 8. PMID 24104479, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32549

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cellular response to amino acid starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to amino acid starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to glucose starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to glucose starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to lysosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of KICSTOR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of KICSTOR complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of KICSTOR complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    KICSTOR subunit 2
    Names
    KICSTOR complex protein C12orf66
    UPF0536 protein C12orf66

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001300940.2 → NP_001287869.2  KICSTOR subunit 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC012158, KF459550
      Consensus CDS
      CCDS73490.1
      UniProtKB/TrEMBL
      J3KNH0
      Related
      ENSP00000311486.8, ENST00000311915.12
      Conserved Domains (1) summary
      pfam09404
      Location:10 → 444
      DUF2003; Eukaryotic protein of unknown function (DUF2003)

    2. NM_001300941.2 → NP_001287870.2  KICSTOR subunit 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and contains a 3' terminal exon that extends past a splice site that is used in variant 1. These differences result in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) shorter, and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC012158, KF459550
      Consensus CDS
      CCDS76574.1
      UniProtKB/TrEMBL
      F5H2Q3
      Related
      ENSP00000445481.1, ENST00000544871.1
      Conserved Domains (1) summary
      pfam09404
      Location:10 → 391
      DUF2003; Eukaryotic protein of unknown function (DUF2003)

    3. NM_152440.5 → NP_689653.4  KICSTOR subunit 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a 3' terminal exon that extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) shorter, and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC012158, KF459550
      Consensus CDS
      CCDS41803.1
      UniProtKB/Swiss-Prot
      C9JX54, Q8IYA0, Q96MD2
      Related
      ENSP00000381132.4, ENST00000398055.8
      Conserved Domains (1) summary
      pfam09404
      Location:10 → 444
      DUF2003; Eukaryotic protein of unknown function (DUF2003)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      64186316..64222296 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      64165109..64201106 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MD2.5 GenPept UniProtKB/Swiss-Prot:Q96MD2

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