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KICS2 KICSTOR subunit 2 [ Homo sapiens (human) ]

Gene ID: 144577, updated on 5-Mar-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 cellular response to starvation; negative regulation of TORC1 signaling; and protein localization to lysosome. Located in intercellular bridge and lysosome. Part of KICSTOR complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 2.7), spleen (RPKM 2.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q14.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (64186316..64222296, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (64165109..64201106, complement)
105.20220307 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
  • 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_2023_10

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

Gene LinkOut

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