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PQLC2 (PQ loop repeat containing 2)

Identity

Alias_symbol (synonym)FLJ20320
Other alias-
HGNC (Hugo) PQLC2
LocusID (NCBI) 54896
Atlas_Id 77760
Location 1p36.13  [Link to chromosome band 1p36]
Location_base_pair Starts at 19312246 and ends at 19329300 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MTBP (8q24.12) / PQLC2 (1p36.13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PQLC2   26001
Cards
Entrez_Gene (NCBI)PQLC2  54896  PQ loop repeat containing 2
Aliases
GeneCards (Weizmann)PQLC2
Ensembl hg19 (Hinxton)ENSG00000040487 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000040487 [Gene_View]  chr1:19312246-19329300 [Contig_View]  PQLC2 [Vega]
ICGC DataPortalENSG00000040487
TCGA cBioPortalPQLC2
AceView (NCBI)PQLC2
Genatlas (Paris)PQLC2
WikiGenes54896
SOURCE (Princeton)PQLC2
Genetics Home Reference (NIH)PQLC2
Genomic and cartography
GoldenPath hg38 (UCSC)PQLC2  -     chr1:19312246-19329300 +  1p36.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PQLC2  -     1p36.13   [Description]    (hg19-Feb_2009)
EnsemblPQLC2 - 1p36.13 [CytoView hg19]  PQLC2 - 1p36.13 [CytoView hg38]
Mapping of homologs : NCBIPQLC2 [Mapview hg19]  PQLC2 [Mapview hg38]
OMIM614760   
Gene and transcription
Genbank (Entrez)AK000327 AK125580 AK130171 AK130175 AK172745
RefSeq transcript (Entrez)NM_001040125 NM_001040126 NM_001287531 NM_017765
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PQLC2
Cluster EST : UnigeneHs.647620 [ NCBI ]
CGAP (NCI)Hs.647620
Alternative Splicing GalleryENSG00000040487
Gene ExpressionPQLC2 [ NCBI-GEO ]   PQLC2 [ EBI - ARRAY_EXPRESS ]   PQLC2 [ SEEK ]   PQLC2 [ MEM ]
Gene Expression Viewer (FireBrowse)PQLC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54896
GTEX Portal (Tissue expression)PQLC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZP29   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZP29  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZP29
Splice isoforms : SwissVarQ6ZP29
PhosPhoSitePlusQ6ZP29
Domains : Interpro (EBI)PQ-loop_rpt   
Domain families : Pfam (Sanger)PQ-loop (PF04193)   
Domain families : Pfam (NCBI)pfam04193   
Domain families : Smart (EMBL)CTNS (SM00679)  
Conserved Domain (NCBI)PQLC2
DMDM Disease mutations54896
Blocks (Seattle)PQLC2
SuperfamilyQ6ZP29
Human Protein AtlasENSG00000040487
Peptide AtlasQ6ZP29
HPRD17896
IPIIPI00643251   IPI00844049   IPI00748068   IPI00827572   IPI00983678   IPI00983053   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZP29
IntAct (EBI)Q6ZP29
FunCoupENSG00000040487
BioGRIDPQLC2
STRING (EMBL)PQLC2
ZODIACPQLC2
Ontologies - Pathways
QuickGOQ6ZP29
Ontology : AmiGOlysosome  lysosomal membrane  lysosomal membrane  basic amino acid transmembrane transporter activity  basic amino acid transmembrane transporter activity  arginine transmembrane transporter activity  L-lysine transmembrane transporter activity  arginine transport  lysine transport  integral component of organelle membrane  intracellular membrane-bounded organelle  transmembrane transport  amino acid homeostasis  L-lysine transmembrane transport  arginine transmembrane transport  basic amino acid transmembrane transport  
Ontology : EGO-EBIlysosome  lysosomal membrane  lysosomal membrane  basic amino acid transmembrane transporter activity  basic amino acid transmembrane transporter activity  arginine transmembrane transporter activity  L-lysine transmembrane transporter activity  arginine transport  lysine transport  integral component of organelle membrane  intracellular membrane-bounded organelle  transmembrane transport  amino acid homeostasis  L-lysine transmembrane transport  arginine transmembrane transport  basic amino acid transmembrane transport  
NDEx NetworkPQLC2
Atlas of Cancer Signalling NetworkPQLC2
Wikipedia pathwaysPQLC2
Orthology - Evolution
OrthoDB54896
GeneTree (enSembl)ENSG00000040487
Phylogenetic Trees/Animal Genes : TreeFamPQLC2
HOVERGENQ6ZP29
HOGENOMQ6ZP29
Homologs : HomoloGenePQLC2
Homology/Alignments : Family Browser (UCSC)PQLC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPQLC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PQLC2
dbVarPQLC2
ClinVarPQLC2
1000_GenomesPQLC2 
Exome Variant ServerPQLC2
ExAC (Exome Aggregation Consortium)PQLC2 (select the gene name)
Genetic variants : HAPMAP54896
Genomic Variants (DGV)PQLC2 [DGVbeta]
DECIPHERPQLC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPQLC2 
Mutations
ICGC Data PortalPQLC2 
TCGA Data PortalPQLC2 
Broad Tumor PortalPQLC2
OASIS PortalPQLC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPQLC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPQLC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PQLC2
DgiDB (Drug Gene Interaction Database)PQLC2
DoCM (Curated mutations)PQLC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PQLC2 (select a term)
intoGenPQLC2
Cancer3DPQLC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614760   
Orphanet
MedgenPQLC2
Genetic Testing Registry PQLC2
NextProtQ6ZP29 [Medical]
TSGene54896
GENETestsPQLC2
Target ValidationPQLC2
Huge Navigator PQLC2 [HugePedia]
snp3D : Map Gene to Disease54896
BioCentury BCIQPQLC2
ClinGenPQLC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54896
Chemical/Pharm GKB GenePA134879718
Clinical trialPQLC2
Miscellaneous
canSAR (ICR)PQLC2 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePQLC2
EVEXPQLC2
GoPubMedPQLC2
iHOPPQLC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:37:12 CEST 2017

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