Aliases for SLC66A2 Gene

Aliases for SLC66A2 Gene

  • Solute Carrier Family 66 Member 2 2 3 4 5
  • PQ-Loop Repeat-Containing Protein 1 3 4
  • PQ Loop Repeat Containing 1 2 3
  • PQLC1 3 4
  • FLJ22378 2
  • SLC66A2 5

External Ids for SLC66A2 Gene

Previous HGNC Symbols for SLC66A2 Gene

  • PQLC1

Summaries for SLC66A2 Gene

GeneCards Summary for SLC66A2 Gene

SLC66A2 (Solute Carrier Family 66 Member 2) is a Protein Coding gene.

Additional gene information for SLC66A2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC66A2 Gene

Genomics for SLC66A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC66A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J079949 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.2 152 5 SP1 HNRNPL CREB1 PRDM10 BACH1 JUND LARP7 ZNF143 RBFOX2 POLR2A SLC66A2 lnc-HSBP1L1-1 RBFADN HSBP1L1 TXNL4A RBFA piR-54787 KCNG2
GH18J080032 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 -82.7 -82736 4 SP1 HNRNPL CREB1 CTCF TEAD4 TFE3 IKZF1 NFKBIZ ZNF692 POLR2A TXNL4A RBFA ENSG00000267127 lnc-PQLC1-1 RBFADN ENSG00000267251 ADNP2 HSBP1L1 SLC66A2
GH18J079856 Enhancer 1 FANTOM5 ENCODE CraniofacialAtlas 10.9 +94.6 94579 1.4 CEBPA KLF9 CEBPB USF1 TCF12 ARNT ZFHX2 POLR2A GABPA SIN3A HSBP1L1 SLC66A2 GM674303 lnc-KCNG2-1 KCNG2
GH18J080009 Enhancer 0.9 Ensembl ENCODE 11.1 -58.8 -58836 1.4 CEBPG PHF21A PKNOX1 CEBPA CEBPB MGA JUND CTBP1 JUN FOS RBFADN TXNL4A SLC66A2 HSBP1L1 AB330784-002 piR-32023-100 lnc-PQLC1-1
GH18J079924 Enhancer 0.5 Ensembl ENCODE 18.3 +25.0 25001 4.7 CTCF POLR2A SLC66A2 HSBP1L1 RBFADN RBFA TXNL4A piR-54787 KCNG2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC66A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC66A2

Genomic Locations for SLC66A2 Gene

Genomic Locations for SLC66A2 Gene
chr18:79,902,420-79,951,665
(GRCh38/hg38)
Size:
49,246 bases
Orientation:
Minus strand
chr18:77,662,420-77,711,664
(GRCh37/hg19)
Size:
49,245 bases
Orientation:
Minus strand

Genomic View for SLC66A2 Gene

Genes around SLC66A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC66A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC66A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC66A2 Gene

Proteins for SLC66A2 Gene

  • Protein details for SLC66A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2U9-S66A2_HUMAN
    Recommended name:
    Solute carrier family 66 member 2
    Protein Accession:
    Q8N2U9
    Secondary Accessions:
    • B7Z7D9
    • G5E989
    • Q9H6D0

    Protein attributes for SLC66A2 Gene

    Size:
    271 amino acids
    Molecular mass:
    30478 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15329.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC66A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC66A2 Gene

Post-translational modifications for SLC66A2 Gene

  • Ubiquitination at Lys122
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC66A2 Gene

Domains & Families for SLC66A2 Gene

Gene Families for SLC66A2 Gene

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

Protein Domains for SLC66A2 Gene

InterPro:
Blocks:
  • Cystinosin/ERS1p repeat
ProtoNet:

Suggested Antigen Peptide Sequences for SLC66A2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ41876 fis, clone OCBBF2020343, highly similar to Homo sapiens PQ loop repeat containing 1 (PQLC1), mRNA (B3KW14_HUMAN)
  • PQ-loop repeat-containing protein 1 (PQLC1_HUMAN)
genes like me logo Genes that share domains with SLC66A2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SLC66A2 Gene

Function for SLC66A2 Gene

Phenotypes From GWAS Catalog for SLC66A2 Gene

genes like me logo Genes that share phenotypes with SLC66A2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC66A2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC66A2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC66A2 Gene

Localization for SLC66A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC66A2 Gene

Membrane. Multi-pass membrane protein.

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 SLC66A2 gene
Compartment Confidence
plasma membrane 3
endosome 3
golgi apparatus 3
nucleus 2
cytosol 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC66A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA 21873635
GO:0005802 trans-Golgi network IBA 21873635
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC66A2: view

Pathways & Interactions for SLC66A2 Gene

PathCards logo

SuperPathways for SLC66A2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC66A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042147 retrograde transport, endosome to Golgi IBA 21873635
GO:0045332 phospholipid translocation IBA 21873635
genes like me logo Genes that share ontologies with SLC66A2: view

No data available for Pathways by source and SIGNOR curated interactions for SLC66A2 Gene

Drugs & Compounds for SLC66A2 Gene

No Compound Related Data Available

Transcripts for SLC66A2 Gene

mRNA/cDNA for SLC66A2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC66A2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC66A2 Gene

No ASD Table

Relevant External Links for SLC66A2 Gene

GeneLoc Exon Structure for
SLC66A2

Expression for SLC66A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC66A2

SOURCE GeneReport for Unigene cluster for SLC66A2 Gene:

Hs.288284

Evidence on tissue expression from TISSUES for SLC66A2 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Kidney(4.2)
  • Eye(2.3)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC66A2 Gene

Orthologs for SLC66A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC66A2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PQLC1 30 31
  • 99.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PQLC1 30 31
  • 88.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PQLC1 30 31
  • 86.14 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pqlc1 30 31
  • 85.61 (n)
OneToOne
Slc66a2 17
Rat
(Rattus norvegicus)
Mammalia Pqlc1 30
  • 84.48 (n)
Oppossum
(Monodelphis domestica)
Mammalia PQLC1 31
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PQLC1 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PQLC1 30 31
  • 76.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PQLC1 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pqlc1.1 30
  • 70.36 (n)
Str.17570 30
Zebrafish
(Danio rerio)
Actinopterygii PQLC1 31
  • 62 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG13784 31
  • 43 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea T19A6.1 30 31
  • 46.67 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR022W 30
  • 46.22 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D14509g 30
  • 42.7 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR010W 30
  • 38.4 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4653 31
  • 57 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU09543 30
  • 47.66 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3788 30
Species where no ortholog for SLC66A2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • 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)

Evolution for SLC66A2 Gene

ENSEMBL:
Gene Tree for SLC66A2 (if available)
TreeFam:
Gene Tree for SLC66A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC66A2: view image

Paralogs for SLC66A2 Gene

Pseudogenes.org Pseudogenes for SLC66A2 Gene

genes like me logo Genes that share paralogs with SLC66A2: view

No data available for Paralogs for SLC66A2 Gene

Variants for SLC66A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC66A2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
786959 Benign: not provided 79,919,249(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
VAR_035979 A colorectal cancer sample p.Gly175Ala

Additional dbSNP identifiers (rs#s) for SLC66A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC66A2 Gene

Variant ID Type Subtype PubMed ID
dgv3412n100 CNV gain 25217958
dgv607e199 CNV deletion 23128226
dgv6120n54 CNV loss 21841781
esv1148746 CNV insertion 17803354
esv1573671 CNV insertion 17803354
esv1629570 CNV insertion 17803354
esv26048 CNV gain+loss 19812545
esv2671465 CNV deletion 23128226
esv3104901 CNV deletion 24192839
esv3342540 CNV duplication 20981092
esv3555799 CNV deletion 23714750
esv3583195 CNV loss 25503493
esv3643326 CNV loss 21293372
esv3643327 CNV loss 21293372
esv988335 CNV insertion 20482838
nsv1061450 CNV gain 25217958
nsv1065902 CNV gain 25217958
nsv1132884 CNV insertion 24896259
nsv1138642 CNV deletion 24896259
nsv131578 CNV deletion 16902084
nsv428359 CNV gain 18775914
nsv469607 CNV loss 16826518
nsv470437 CNV loss 18288195
nsv509710 CNV insertion 20534489
nsv525694 CNV loss 19592680
nsv577953 CNV loss 21841781
nsv577958 CNV gain 21841781
nsv820460 CNV deletion 20802225
nsv953930 CNV deletion 24416366
nsv953931 CNV deletion 24416366

Variation tolerance for SLC66A2 Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC66A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC66A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC66A2 Gene

Disorders for SLC66A2 Gene

No disorders were found for SLC66A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC66A2 Gene

Publications for SLC66A2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3

Products for SLC66A2 Gene

Sources for SLC66A2 Gene