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    SLC16A9 solute carrier family 16 member 9 [ Homo sapiens (human) ]

    Gene ID: 220963, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC16A9provided by HGNC
    Official Full Name
    solute carrier family 16 member 9provided by HGNC
    Primary source
    HGNC:HGNC:23520
    See related
    Ensembl:ENSG00000165449 MIM:614242; AllianceGenome:HGNC:23520
    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
    MCT9; C10orf36
    Summary
    Enables carnitine transmembrane transporter activity and creatine transmembrane transporter activity. Involved in carnitine transmembrane transport; creatine transmembrane transport; and urate metabolic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in adrenal (RPKM 82.1), kidney (RPKM 62.2) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC16A9 in Genome Data Viewer
    Location:
    10q21.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (59650764..59710079, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (60504785..60564169, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (61410522..61469837, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378318 Neighboring gene Sharpr-MPRA regulatory region 11473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3386 Neighboring gene uncharacterized LOC105378319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:61521925-61522472 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:61529872-61530061 Neighboring gene myoregulin Neighboring gene NANOG hESC enhancer GRCh37_chr10:61549690-61550191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:61562933-61563434 Neighboring gene coiled-coil domain containing 6 Neighboring gene Sharpr-MPRA regulatory region 6982 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:61607379-61608319 Neighboring gene Sharpr-MPRA regulatory region 3861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2387

    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 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. Monocarboxylate transporter 9 (MCT9) is down-regulated in renal cell carcinoma. Yoo A, et al. Genes Genomics, 2021 Apr. PMID 33555501
    2. HBsAg loss in patients treated with peginterferon alfa-2a and adefovir is associated with SLC16A9 gene variation and lower plasma carnitine levels. Jansen L, et al. J Hepatol, 2014 Oct. PMID 24824278
    3. Common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility. Nakayama A, et al. Hum Cell, 2013 Dec. PMID 23990105, Free PMC Article
    4. Molecular characteristic analysis of single-nucleotide polymorphisms in SLC16A9/hMCT9. Yamaguchi A, et al. Life Sci, 2023 Dec 1. PMID 37879602
    5. The tissue expression of MCT3, MCT8, and MCT9 genes in women with breast cancer. Sohrabi E, et al. Genes Genomics, 2021 Sep. PMID 34097251

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular characteristic analysis of single-nucleotide polymorphisms in SLC16A9/hMCT9.
      Title: Molecular characteristic analysis of single-nucleotide polymorphisms in SLC16A9/hMCT9.
    2. The tissue expression of MCT3, MCT8, and MCT9 genes in women with breast cancer.
      Title: The tissue expression of MCT3, MCT8, and MCT9 genes in women with breast cancer.
    3. Monocarboxylate transporter 9 (MCT9) is down-regulated in renal cell carcinoma.
      Title: Monocarboxylate transporter 9 (MCT9) is down-regulated in renal cell carcinoma.
    4. SLC1A1, SLC16A9, and CNTN3 Are Potential Biomarkers for the Occurrence of Colorectal Cancer.
      Title: SLC1A1, SLC16A9, and CNTN3 Are Potential Biomarkers for the Occurrence of Colorectal Cancer.
    5. Molecular characterization of the orphan transporter SLC16A9, an extracellular pH- and Na(+)-sensitive creatine transporter.
      Title: Molecular characterization of the orphan transporter SLC16A9, an extracellular pH- and Na(+)-sensitive creatine transporter.
    6. Strong association of SLC16A9 gene variation with HBsAg loss was identified in Chronic Hepatitis B patients treated with peginterferon and adefovir.
      Title: HBsAg loss in patients treated with peginterferon alfa-2a and adefovir is associated with SLC16A9 gene variation and lower plasma carnitine levels.
    7. it has a possible physiological role in urate excretion from human intestinal epithelial cells.
      Title: Common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility.
    8. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Predictive value of 8 genetic loci for serum uric acid concentration.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series.
    10. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
    Submit: New GeneRIF Correction

    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
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog
    Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43803

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carnitine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables creatine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables monocarboxylic acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in carboxylic acid transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in carnitine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in creatine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in urate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    monocarboxylate transporter 9
    Names
    MCT 9
    monocarboxylic acid transporter 9
    solute carrier family 16 (monocarboxylic acid transporters), member 9

    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_001323977.1 → NP_001310906.1  monocarboxylate transporter 9 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 4, 5, and 6, encodes isoform b.
      Source sequence(s)
      AC026391, DA759951

    2. NM_001323978.2 → NP_001310907.1  monocarboxylate transporter 9 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 3, 5, and 6, encodes isoform b.
      Source sequence(s)
      AC022027, AC026391

    3. NM_001323979.2 → NP_001310908.1  monocarboxylate transporter 9 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 3, 4, and 6, encodes isoform b.
      Source sequence(s)
      AC022027, AC026391

    4. NM_001323980.2 → NP_001310909.1  monocarboxylate transporter 9 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 3, 4, and 5, encodes isoform b.
      Source sequence(s)
      AC022027, AC026391

    5. NM_001323981.2 → NP_001310910.1  monocarboxylate transporter 9 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variant 1, encodes isoform a.
      Source sequence(s)
      AC022027, AC026391
      Consensus CDS
      CCDS7256.1
      UniProtKB/Swiss-Prot
      Q6ZMI2, Q7RTY1, Q9UFH8
      Conserved Domains (1) summary
      cl26868
      Location:7 → 481
      2A0111; oxalate/formate antiporter family transporter

    6. NM_194298.3 → NP_919274.1  monocarboxylate transporter 9 isoform a

      See identical proteins and their annotated locations for NP_919274.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variant 2, encodes isoform a.
      Source sequence(s)
      AK125791, BC126238, BX092606, CX784319, DA229807
      Consensus CDS
      CCDS7256.1
      UniProtKB/Swiss-Prot
      Q6ZMI2, Q7RTY1, Q9UFH8
      Related
      ENSP00000378757.3, ENST00000395348.8
      Conserved Domains (1) summary
      cl26868
      Location:7 → 481
      2A0111; oxalate/formate antiporter family transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      59650764..59710079 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015883.2 → XP_016871372.1  monocarboxylate transporter 9 isoform X1

    2. XM_017015884.3 → XP_016871373.1  monocarboxylate transporter 9 isoform X2

      UniProtKB/Swiss-Prot
      Q6ZMI2, Q7RTY1, Q9UFH8
      Conserved Domains (1) summary
      cl26868
      Location:7 → 481
      2A0111; oxalate/formate antiporter family transporter

    3. XM_047424753.1 → XP_047280709.1  monocarboxylate transporter 9 isoform X1

    4. XM_047424754.1 → XP_047280710.1  monocarboxylate transporter 9 isoform X1

    5. XM_047424757.1 → XP_047280713.1  monocarboxylate transporter 9 isoform X2

      UniProtKB/Swiss-Prot
      Q6ZMI2, Q7RTY1, Q9UFH8

    6. XM_047424755.1 → XP_047280711.1  monocarboxylate transporter 9 isoform X1

    7. XM_024447878.2 → XP_024303646.1  monocarboxylate transporter 9 isoform X2

      UniProtKB/Swiss-Prot
      Q6ZMI2, Q7RTY1, Q9UFH8
      Conserved Domains (1) summary
      cl26868
      Location:7 → 481
      2A0111; oxalate/formate antiporter family transporter

    8. XM_047424756.1 → XP_047280712.1  monocarboxylate transporter 9 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      60504785..60564169 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365082.1 → XP_054221057.1  monocarboxylate transporter 9 isoform X2

    2. XM_054365080.1 → XP_054221055.1  monocarboxylate transporter 9 isoform X1

    3. XM_054365075.1 → XP_054221050.1  monocarboxylate transporter 9 isoform X1

    4. XM_054365081.1 → XP_054221056.1  monocarboxylate transporter 9 isoform X2

    5. XM_054365076.1 → XP_054221051.1  monocarboxylate transporter 9 isoform X1

    6. XM_054365077.1 → XP_054221052.1  monocarboxylate transporter 9 isoform X1

    7. XM_054365083.1 → XP_054221058.1  monocarboxylate transporter 9 isoform X2

    8. XM_054365078.1 → XP_054221053.1  monocarboxylate transporter 9 isoform X1

    9. XM_054365084.1 → XP_054221059.1  monocarboxylate transporter 9 isoform X2

    10. XM_054365079.1 → XP_054221054.1  monocarboxylate transporter 9 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7RTY1.1 GenPept UniProtKB/Swiss-Prot:Q7RTY1

    Gene LinkOut

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