Aliases for SLC31A2 Gene

Aliases for SLC31A2 Gene

  • Solute Carrier Family 31 Member 2 2 3 4 5
  • Copper Transporter 2 2 3 4
  • HCTR2 2 3 4
  • CTR2 2 3 4
  • Solute Carrier Family 31 (Copper Transporter), Member 2 2 3
  • Probable Low Affinity Copper Uptake Protein 2 3 4
  • COPT2 3 4
  • Solute Carrier Family 31 (Copper Transporters), Member 2 3
  • SLC31A2 5

External Ids for SLC31A2 Gene

Previous HGNC Symbols for SLC31A2 Gene

  • COPT2

Previous GeneCards Identifiers for SLC31A2 Gene

  • GC09P106711
  • GC09P107645
  • GC09P109366
  • GC09P111289
  • GC09P112992
  • GC09P114953
  • GC09P115913
  • GC09P085521

Summaries for SLC31A2 Gene

GeneCards Summary for SLC31A2 Gene

SLC31A2 (Solute Carrier Family 31 Member 2) is a Protein Coding gene. Diseases associated with SLC31A2 include Cone-Rod Dystrophy 2 and Noonan Syndrome 3. Among its related pathways are Copper homeostasis. Gene Ontology (GO) annotations related to this gene include copper ion transmembrane transporter activity. An important paralog of this gene is SLC31A1.

UniProtKB/Swiss-Prot Summary for SLC31A2 Gene

Gene Wiki entry for SLC31A2 Gene

Additional gene information for SLC31A2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC31A2 Gene

Genomics for SLC31A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC31A2 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 SLC31A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC31A2

Top Transcription factor binding sites by QIAGEN in the SLC31A2 gene promoter:
  • AML1a
  • ATF6
  • CREB
  • deltaCREB
  • MRF-2
  • NF-kappaB
  • NF-kappaB1
  • Olf-1
  • PPAR-gamma1
  • RP58

Genomic Locations for SLC31A2 Gene

Genomic Locations for SLC31A2 Gene
chr9:113,150,976-113,164,140
(GRCh38/hg38)
Size:
13,165 bases
Orientation:
Plus strand
chr9:115,913,222-115,926,422
(GRCh37/hg19)
Size:
13,201 bases
Orientation:
Plus strand

Genomic View for SLC31A2 Gene

Genes around SLC31A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC31A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC31A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC31A2 Gene

Proteins for SLC31A2 Gene

  • Protein details for SLC31A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15432-COPT2_HUMAN
    Recommended name:
    Probable low affinity copper uptake protein 2
    Protein Accession:
    O15432

    Protein attributes for SLC31A2 Gene

    Size:
    143 amino acids
    Molecular mass:
    15681 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC31A2 Gene

Post-translational modifications for SLC31A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC31A2 Gene

No data available for DME Specific Peptides for SLC31A2 Gene

Domains & Families for SLC31A2 Gene

Gene Families for SLC31A2 Gene

Protein Domains for SLC31A2 Gene

InterPro:
Blocks:
  • Ctr copper transporter
ProtoNet:

Suggested Antigen Peptide Sequences for SLC31A2 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 31 member 2 (COPT2_HUMAN)
  • Solute carrier family 31 (Copper transporters), member 2 (Q53X94_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15432

UniProtKB/Swiss-Prot:

COPT2_HUMAN :
  • Belongs to the copper transporter (Ctr) (TC 1.A.56) family. SLC31A subfamily.
Family:
  • Belongs to the copper transporter (Ctr) (TC 1.A.56) family. SLC31A subfamily.
genes like me logo Genes that share domains with SLC31A2: view

Function for SLC31A2 Gene

Molecular function for SLC31A2 Gene

UniProtKB/Swiss-Prot Function:
Involved in low-affinity copper uptake.
GENATLAS Biochemistry:
solute carrier family 31,copper uptake transport,low affinity,homolog to yeast ctr2,with an alternatively spliced form CTR2X,ubiquitously expressed

Phenotypes From GWAS Catalog for SLC31A2 Gene

Gene Ontology (GO) - Molecular Function for SLC31A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005375 copper ion transmembrane transporter activity TAS,IEA --
genes like me logo Genes that share ontologies with SLC31A2: view
genes like me logo Genes that share phenotypes with SLC31A2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC31A2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC31A2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC31A2 Gene

Localization for SLC31A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC31A2 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 SLC31A2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
endosome 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
lysosome 2
golgi apparatus 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Nuclear speckles (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC31A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005770 late endosome IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0005887 integral component of plasma membrane TAS 9207117
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC31A2: view

Pathways & Interactions for SLC31A2 Gene

PathCards logo

SuperPathways for SLC31A2 Gene

SuperPathway Contained pathways
1 Copper homeostasis
genes like me logo Genes that share pathways with SLC31A2: view

Pathways by source for SLC31A2 Gene

1 BioSystems pathway for SLC31A2 Gene

Gene Ontology (GO) - Biological Process for SLC31A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006825 copper ion transport TAS 9207117
GO:0006878 cellular copper ion homeostasis IEA,IBA 21873635
GO:0035434 copper ion transmembrane transport IEA --
GO:1902311 regulation of copper ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC31A2: view

No data available for SIGNOR curated interactions for SLC31A2 Gene

Drugs & Compounds for SLC31A2 Gene

(3) Drugs for SLC31A2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Transporter 249
Carboplatin Approved Pharma Transporter, substrate Antitumor agent that forms platinum-DNA adducts., Platinum 2588
Cisplatin Approved Pharma Transporter, substrate Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3412
genes like me logo Genes that share compounds with SLC31A2: view

Transcripts for SLC31A2 Gene

mRNA/cDNA for SLC31A2 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 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 SLC31A2

Alternative Splicing Database (ASD) splice patterns (SP) for SLC31A2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b
SP1: - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - - - - -
SP5: - - - -
SP6:
SP7: - -
SP8: - - -

Relevant External Links for SLC31A2 Gene

GeneLoc Exon Structure for
SLC31A2

Expression for SLC31A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC31A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC31A2 Gene

This gene is overexpressed in Whole Blood (x9.5) and Brain - Spinal cord (cervical c-1) (x4.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC31A2

SOURCE GeneReport for Unigene cluster for SLC31A2 Gene:

Hs.24030

mRNA Expression by UniProt/SwissProt for SLC31A2 Gene:

O15432-COPT2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SLC31A2 Gene

  • Nervous system(4.3)
  • Skin(2.5)
  • Kidney(2.4)
  • Blood(2.4)
  • Intestine(2.3)
  • Liver(2.2)
  • Heart(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with SLC31A2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC31A2 Gene

Orthologs for SLC31A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC31A2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC31A2 30 31
  • 99.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC31A2 30 31
  • 83.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC31A2 30 31
  • 82.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc31a2 30
  • 81.9 (n)
Mouse
(Mus musculus)
Mammalia Slc31a2 30 17 31
  • 81.32 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC31A2 31
  • 70 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC31A2 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC31A2 30
  • 64.34 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc31a2 30
  • 57.21 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc31a2 30 31
  • 57.11 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Ctr1B 31
  • 20 (a)
ManyToMany
Ctr1C 31
  • 17 (a)
ManyToMany
Ctr1A 31
  • 17 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToOne
Species where no ortholog for SLC31A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • 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)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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 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 SLC31A2 Gene

ENSEMBL:
Gene Tree for SLC31A2 (if available)
TreeFam:
Gene Tree for SLC31A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC31A2: view image

Paralogs for SLC31A2 Gene

Paralogs for SLC31A2 Gene

genes like me logo Genes that share paralogs with SLC31A2: view

Variants for SLC31A2 Gene

Additional dbSNP identifiers (rs#s) for SLC31A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC31A2 Gene

Variant ID Type Subtype PubMed ID
esv2759710 CNV gain 17122850
esv3621538 CNV loss 21293372
esv3891716 CNV loss 25118596
esv3891717 CNV loss 25118596
nsv1051654 CNV gain 25217958
nsv466507 CNV loss 19166990
nsv615212 CNV gain 21841781
nsv615213 CNV loss 21841781
nsv831691 CNV loss 17160897
nsv8563 CNV gain 18304495

Variation tolerance for SLC31A2 Gene

Residual Variation Intolerance Score: 75.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC31A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC31A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC31A2 Gene

Disorders for SLC31A2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC31A2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cone-rod dystrophy 2
  • cord2
noonan syndrome 3
  • ns3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC31A2

genes like me logo Genes that share disorders with SLC31A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC31A2 Gene

Publications for SLC31A2 Gene

  1. hCTR1: a human gene for copper uptake identified by complementation in yeast. (PMID: 9207117) Zhou B … Gitschier J (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23
  2. Copper transporter 2 regulates the cellular accumulation and cytotoxicity of Cisplatin and Carboplatin. (PMID: 19509135) Blair BG … Howell SB (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 23 26
  3. Ctr2 is partially localized to the plasma membrane and stimulates copper uptake in COS-7 cells. (PMID: 17944601) Bertinato J … L'abbé MR (The Biochemical journal 2008) 3 23
  4. Human copper transporter 2 is localized in late endosomes and lysosomes and facilitates cellular copper uptake. (PMID: 17617060) van den Berghe PV … Klomp LW (The Biochemical journal 2007) 3 23
  5. 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

Products for SLC31A2 Gene

  • Biorbyt antibodies for SLC31A2

Sources for SLC31A2 Gene