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    SLC22A23 solute carrier family 22 member 23 [ Homo sapiens (human) ]

    Gene ID: 63027, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SLC22A23provided by HGNC
    Official Full Name
    solute carrier family 22 member 23provided by HGNC
    Primary source
    HGNC:HGNC:21106
    See related
    Ensembl:ENSG00000137266 MIM:611697; AllianceGenome:HGNC:21106
    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
    C6orf85
    Summary
    SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in stomach (RPKM 8.9), colon (RPKM 8.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC22A23 in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3268973..3457050, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3137376..3325795, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3269207..3457284, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3232034-3232816 Neighboring gene uncharacterized LOC100422781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3238669-3239168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3247329-3247894 Neighboring gene Sharpr-MPRA regulatory region 12113 Neighboring gene Sharpr-MPRA regulatory region 12515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3266017-3266518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3266519-3267018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23888 Neighboring gene Sharpr-MPRA regulatory region 5686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3282752-3283679 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3287161-3287690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3296939-3297439 Neighboring gene proteasome assembly chaperone 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3310226-3311075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3322296-3322796 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:3324264-3325463 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:3341422-3342145 Neighboring gene VISTA enhancer hs1391 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3356377-3357267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3364498-3364998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3364999-3365499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3370733-3371253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23890 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:3410001-3410221 Neighboring gene uncharacterized LOC105374890 Neighboring gene HNF4 motif-containing MPRA enhancer 213 Neighboring gene Sharpr-MPRA regulatory region 2334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3413621-3414120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3415185-3415686 Neighboring gene Sharpr-MPRA regulatory region 10234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3427759-3428672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3446415-3446962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3446963-3447509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16854 Neighboring gene Sharpr-MPRA regulatory region 3383 Neighboring gene uncharacterized LOC643327 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3490051-3490550 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:3511328-3512180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3540364-3540864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3563205-3563704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3568820-3569322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3579367-3580278 Neighboring gene uncharacterized LOC100507336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3603461-3603960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3724209-3724747 Neighboring gene TOMM5 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 15708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3737712-3738338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16855 Neighboring gene PX domain containing 1

    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
    • 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. Single-nucleotide polymorphisms in SLC22A23 are associated with ulcerative colitis in a Canadian white cohort. Serrano León A, et al. Am J Clin Nutr, 2014 Jul. PMID 24740203
    2. Genome-wide association study of antipsychotic-induced QTc interval prolongation. Aberg K, et al. Pharmacogenomics J, 2012 Apr. PMID 20921969, Free PMC Article
    3. Genome-wide association study of serious blistering skin rash caused by drugs. Shen Y, et al. Pharmacogenomics J, 2012 Apr. PMID 21221126
    4. Identification of six putative human transporters with structural similarity to the drug transporter SLC22 family. Jacobsson JA, et al. Genomics, 2007 Nov. PMID 17714910
    5. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. Anderson CA, et al. Gastroenterology, 2009 Feb. PMID 19068216, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic variations in the SLC22A23 locus contribute to the susceptibility to inflammatory bowel disease in a small fraction of white patients.
      Title: Single-nucleotide polymorphisms in SLC22A23 are associated with ulcerative colitis in a Canadian white cohort.
    2. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Genome-wide association study of antipsychotic-induced QTc interval prolongation.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Molecular reclassification of Crohn's disease by cluster analysis of genetic variants.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis.
    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
    Genome-wide association study of antipsychotic-induced QTc interval prolongation.
    EBI GWAS Catalog
    Genome-wide association study of serious blistering skin rash caused by drugs.
    EBI GWAS Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    • FLJ22174, DKFZp434F011

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 22 member 23
    Names
    ion transporter protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001286455.1 → NP_001273384.1  solute carrier family 22 member 23 isoform b

      See identical proteins and their annotated locations for NP_001273384.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains alternate 5' exon structure and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AJ420525, AK172770, BC128580, DB050701
      Consensus CDS
      CCDS34331.1
      UniProtKB/Swiss-Prot
      A1A5C7
      Related
      ENSP00000369657.4, ENST00000380302.8
      Conserved Domains (1) summary
      cl26863
      Location:1 → 347
      Sugar_tr; Sugar (and other) transporter

    2. NM_001286456.2 → NP_001273385.1  solute carrier family 22 member 23 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks multiple exons in the 3' region but includes an alternate 3' exon, and it thus lacks a portion of the 3' coding region and differs in the 3' UTR, compared to variant 1. The encoded isoform (c) is shorter at the C-terminus, compared to isoform a.
      Source sequence(s)
      AL160398, AL445309
      Consensus CDS
      CCDS75389.1
      UniProtKB/Swiss-Prot
      A1A5C7
      UniProtKB/TrEMBL
      Q9UFY2
      Related
      ENSP00000369653.2, ENST00000380298.2
      Conserved Domains (2) summary
      cd06174
      Location:235 → 360
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00898
      Location:95 → 360
      2A0119; cation transport protein

    3. NM_001382317.1 → NP_001369246.1  solute carrier family 22 member 23 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL160398, AL445309
      Conserved Domains (1) summary
      cl28910
      Location:192 → 580
      MFS; Major Facilitator Superfamily

    4. NM_001382318.1 → NP_001369247.1  solute carrier family 22 member 23 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL445309
      Conserved Domains (1) summary
      cl28910
      Location:3 → 308
      MFS; Major Facilitator Superfamily

    5. NM_001382319.1 → NP_001369248.1  solute carrier family 22 member 23 isoform f

      Status: VALIDATED

      Source sequence(s)
      AL445309
      Conserved Domains (1) summary
      cl28910
      Location:3 → 283
      MFS; Major Facilitator Superfamily

    6. NM_001382320.1 → NP_001369249.1  solute carrier family 22 member 23 isoform g

      Status: VALIDATED

      Source sequence(s)
      AL160398, AL445309
      Conserved Domains (1) summary
      cl28910
      Location:192 → 218
      MFS; Major Facilitator Superfamily

    7. NM_001382321.1 → NP_001369250.1  solute carrier family 22 member 23 isoform h

      Status: VALIDATED

      Source sequence(s)
      AL445309
      Related
      ENST00000433689.2
      Conserved Domains (1) summary
      cl28910
      Location:3 → 64
      MFS; Major Facilitator Superfamily

    8. NM_015482.2 → NP_056297.1  solute carrier family 22 member 23 isoform a

      See identical proteins and their annotated locations for NP_056297.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AL160398, AL445309
      Consensus CDS
      CCDS47363.1
      UniProtKB/Swiss-Prot
      A1A5C7, A1A5C8, Q5T8B8, Q6ZMH3, Q8IW73
      Related
      ENSP00000385028.3, ENST00000406686.8
      Conserved Domains (2) summary
      cd06174
      Location:235 → 364
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00898
      Location:95 → 628
      2A0119; cation transport protein

    9. NM_021945.6 → NP_068764.3  solute carrier family 22 member 23 isoform b

      See identical proteins and their annotated locations for NP_068764.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains alternate 5' exon structure and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AJ420525, AK172770, BC038748, DB050701
      Consensus CDS
      CCDS34331.1
      UniProtKB/Swiss-Prot
      A1A5C7
      Related
      ENSP00000419463.1, ENST00000490273.5
      Conserved Domains (1) summary
      cl26863
      Location:1 → 347
      Sugar_tr; Sugar (and other) transporter

    RNA

    1. NR_104448.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains alternate 5' exon structure, includes an additional exon in the central region, and lacks a segment in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ420525, AK172770, BC128581, DB050701

    2. NR_168069.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160398, AL445309

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      3268973..3457050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514801.3 → XP_011513103.1  solute carrier family 22 member 23 isoform X1

      Conserved Domains (2) summary
      cd06174
      Location:259 → 388
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00898
      Location:243 → 652
      2A0119; cation transport protein

    2. XM_017011186.2 → XP_016866675.1  solute carrier family 22 member 23 isoform X7

      UniProtKB/Swiss-Prot
      A1A5C7
      Conserved Domains (1) summary
      cl26863
      Location:1 → 347
      Sugar_tr; Sugar (and other) transporter

    3. XM_017011180.2 → XP_016866669.1  solute carrier family 22 member 23 isoform X5

    4. XM_047419243.1 → XP_047275199.1  solute carrier family 22 member 23 isoform X6

    5. XM_017011184.2 → XP_016866673.1  solute carrier family 22 member 23 isoform X6

    6. XM_047419241.1 → XP_047275197.1  solute carrier family 22 member 23 isoform X6

    7. XM_047419242.1 → XP_047275198.1  solute carrier family 22 member 23 isoform X6

    8. XM_017011185.3 → XP_016866674.1  solute carrier family 22 member 23 isoform X3

    9. XM_017011183.2 → XP_016866672.1  solute carrier family 22 member 23 isoform X2

    10. XM_047419244.1 → XP_047275200.1  solute carrier family 22 member 23 isoform X4

    RNA

    1. XR_001743575.2 RNA Sequence

    2. XR_007059328.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      3137376..3325795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356201.1 → XP_054212176.1  solute carrier family 22 member 23 isoform X9

      UniProtKB/TrEMBL
      C9J4Z0

    2. XM_054356200.1 → XP_054212175.1  solute carrier family 22 member 23 isoform X1

    3. XM_054356199.1 → XP_054212174.1  solute carrier family 22 member 23 isoform X8

    4. XM_054356202.1 → XP_054212177.1  solute carrier family 22 member 23 isoform X10

    5. XM_054356204.1 → XP_054212179.1  solute carrier family 22 member 23 isoform X3

    6. XM_054356203.1 → XP_054212178.1  solute carrier family 22 member 23 isoform X2

    7. XM_054356205.1 → XP_054212180.1  solute carrier family 22 member 23 isoform X4

    RNA

    1. XR_008487423.1 RNA Sequence

    2. XR_008487424.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1A5C7.2 GenPept UniProtKB/Swiss-Prot:A1A5C7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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