SLC31A2 solute carrier family 31 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC31A2provided by HGNC
Official Full Name: solute carrier family 31 member 2provided by HGNC
Primary source: HGNC:HGNC:11017
See related: Ensembl:ENSG00000136867 MIM:603088; AllianceGenome:HGNC:11017
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: CTR2; COPT2; hCTR2
Summary: Predicted to enable copper ion transmembrane transporter activity. Predicted to be involved in cellular copper ion homeostasis. Predicted to act upstream of or within regulation of copper ion transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in salivary gland (RPKM 28.8), spleen (RPKM 6.8) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q32

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (113151007..113164140)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (125349843..125362976)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (115913287..115926420)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

11 single-nucleotide polymorphisms (SNPs) in CTR1, CTR2, ATP7A, and ATP7B were genotyped in these patients.
Title: Association between polymorphisms in CTR1, CTR2, ATP7A, and ATP7B and platinum resistance in epithelial ovarian cancer.
Gene duplication and neo-functionalization in the evolutionary and functional divergence of the metazoan copper transporters Ctr1 and Ctr2
Title: Gene duplication and neo-functionalization in the evolutionary and functional divergence of the metazoan copper transporters Ctr1 and Ctr2.
Decreased expression of CTR2 is associated with clear cell renal cell carcinoma.
Title: Decreased expression of CTR2 predicts poor prognosis of patients with clear cell renal cell carcinoma.
Studied the interaction of CTR1 and CTR2 in fully malignant HEK293T and OVCAR8 human ovarian cancer cells using a CRISPR-Cas9 knock out system.
Title: The copper transporter 1 (CTR1) is required to maintain the stability of copper transporter 2 (CTR2).
Data suggest that SLC31A1 and SLC31A2, despite being structurally closely related and sharing important amino acid motifs, play different roles in copper homeostasis and in platinum-based chemotherapy of neoplasms. [REVIEW]
Title: The role of Ctr1 and Ctr2 in mammalian copper homeostasis and platinum-based chemotherapy.
Over-expression of CTR2 increased exchangeable Cu(+) by 150% and rendered the human epithelial 2008 cancer cell model 2.5-fold resistant to cisplatin.
Title: Copper transporter 2 regulates intracellular copper and sensitivity to cisplatin.
Increased CTR2 expression is associated with platinum resistance in epithelial ovarian cancer.
Title: Association of copper transporter expression with platinum resistance in epithelial ovarian cancer.
CTR2 functions by limiting drug accumulation, and its expression correlates with the sensitivity of human ovarian carcinoma cell lines to cisplatin.
Title: Copper transporter 2 regulates the cellular accumulation and cytotoxicity of Cisplatin and Carboplatin.
Ctr2 promotes copper uptake at the plasma membrane and plays a role in regulating copper levels in COS-7 cells
Title: Ctr2 is partially localized to the plasma membrane and stimulates copper uptake in COS-7 cells.
hCTR2 is as an oligomeric membrane protein localized in lysosomes, which stimulates copper delivery to the cytosol of human cells at relatively high copper concentrations.
Title: Human copper transporter 2 is localized in late endosomes and lysosomes and facilitates cellular copper uptake.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11879 (e-PCR)
- UniSTS:82738

SHGC-146491 (e-PCR)
- UniSTS:172619

G20709 (e-PCR)
- UniSTS:62808

A006C39 (e-PCR)
- UniSTS:62809

WI-22404 (e-PCR)
- UniSTS:10363

SHGC-148266 (e-PCR)
- UniSTS:172968

STS-N35585 (e-PCR)
- UniSTS:77009

WI-17544 (e-PCR)
- UniSTS:49634

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in copper ion import	IDA Inferred from Direct Assay more info	PubMed
involved_in copper ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in copper ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular copper ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in regulation of copper ion transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in recycling endosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein SLC31A2

Names: copper transporter 2; probable low affinity copper uptake protein 2; solute carrier family 31 (copper transporter), member 2; solute carrier family 31 (copper transporters), member 2

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.