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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
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Genomic context

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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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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

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