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SLC22A5 Gene(Protein Coding)

Solute Carrier Family 22 Member 5

GCID:
GC05P132369
GIFtS:
53
Genes Participants
UDN Logo

Aliases for SLC22A5 Gene

Aliases for SLC22A5 Gene

  • Solute Carrier Family 22 Member 5 2 3 3 5
  • Organic Cation/Carnitine Transporter 2 3 4
  • OCTN2 3 4
  • Solute Carrier Family 22 (Organic Cation/Carnitine Transporter), Member 5 2
  • High-Affinity Sodium Dependent Carnitine Cotransporter 3
  • High-Affinity Sodium-Dependent Carnitine Cotransporter 4
  • CDSP 3

External Ids for SLC22A5 Gene

Previous HGNC Symbols for SLC22A5 Gene

  • CDSP

Previous GeneCards Identifiers for SLC22A5 Gene

  • GC05P131227
  • GC05P132152
  • GC05P131661
  • GC05P131707
  • GC05P131708
  • GC05P131733
  • GC05P126897

Summaries for SLC22A5 Gene

Entrez Gene Summary for SLC22A5 Gene

  • Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for SLC22A5 Gene

SLC22A5 (Solute Carrier Family 22 Member 5) is a Protein Coding gene. Diseases associated with SLC22A5 include Carnitine Deficiency, Systemic Primary and Visceral Steatosis. Among its related pathways are Phospholipase D signaling pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and symporter activity. An important paralog of this gene is SLC22A4.

UniProtKB/Swiss-Prot for SLC22A5 Gene

  • Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.

Gene Wiki entry for SLC22A5 Gene

Additional gene information for SLC22A5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC22A5 Gene

Genomics for SLC22A5 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SLC22A5 Gene

Promoters and enhancers for SLC22A5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH05J132368 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 677.5 +0.8 790 4.6 PKNOX1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS SP3 MIR3936HG SLC22A5 RAPGEF6 RAD50 PIR35375
GH05J132292 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.1 -74.7 -74684 5.2 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 ZNF548 SP3 ZFP41 SLC22A4 P4HA2 RAD50 AFF4 MIR3936HG IL4 FNIP1 ENSG00000202533 MIR3936 SLC22A5
GH05J132452 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 23 +97.5 97540 29.7 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B FEZF1 DMAP1 IRF4 YY1 ENSG00000202533 GC05P132469 AFF4 RAD50 IRF1 SLC22A5 IL4 LOC102723741 MIR3936HG ENSG00000224431
GH05J132418 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.4 +56.4 56408 14.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B ZNF2 ZBTB7B IRF4 RAD50 IL4 LOC105379175 IRF1 SLC22A5 AFF4 ENSG00000202533 MIR3936HG FNIP1 RAPGEF6
GH05J132384 Enhancer 1.4 Ensembl ENCODE dbSUPER 27.6 +18.0 17981 6.6 HDGF ARID4B SIN3A ZBTB7B IRF4 ZNF207 ZNF143 FOS DEK REST MIR3936HG SLC22A5 RAD50 ENSG00000248648 C5orf56 IRF1 ENSG00000202533 LOC105379175 LOC102723741 SOWAHA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC22A5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC22A5 gene promoter:
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • c-Myb
  • MyoD
  • Lmo2
  • AML1a

Genomic Locations for SLC22A5 Gene

Genomic Locations for SLC22A5 Gene
chr5:132,369,704-132,395,614
(GRCh38/hg38)
Size:
25,911 bases
Orientation:
Plus strand
chr5:131,705,401-131,731,306
(GRCh37/hg19)
Size:
25,906 bases
Orientation:
Plus strand

Genomic View for SLC22A5 Gene

Genes around SLC22A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC22A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC22A5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC22A5 Gene

Proteins for SLC22A5 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SLC22A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76082-S22A5_HUMAN
    Recommended name:
    Solute carrier family 22 member 5
    Protein Accession:
    O76082
    Secondary Accessions:
    • A2Q0V1
    • B2R844
    • D3DQ87
    • Q6ZQZ8
    • Q96EH6

    Protein attributes for SLC22A5 Gene

    Size:
    557 amino acids
    Molecular mass:
    62752 Da
    Quaternary structure:
    • Interacts with PDZK1.
    Miscellaneous:
    • Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid.

    Alternative splice isoforms for SLC22A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC22A5 Gene

Protein Expression for SLC22A5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC22A5 Gene

  • Glycosylation at posLast=9191, posLast=6464, and posLast=5757
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC22A5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC22A5 Gene

Domains & Families for SLC22A5 Gene

Gene Families for SLC22A5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC22A5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC22A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O76082

UniProtKB/Swiss-Prot:

S22A5_HUMAN :
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
Family:
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
genes like me logo Genes that share domains with SLC22A5: view

Function for SLC22A5 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SLC22A5 Gene

UniProtKB/Swiss-Prot Function:
Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.
GENATLAS Biochemistry:
solute carrier family 22,member A5,63kDa,polyspecific transporter of organic cations,sodium ion dependent,high affinity carnitine transporter plasmalemmal,strongly expressed in kidney,skeletal muscle,heart,pancreas

Phenotypes From GWAS Catalog for SLC22A5 Gene

Gene Ontology (GO) - Molecular Function for SLC22A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005452 inorganic anion exchanger activity IBA --
GO:0005515 protein binding IPI 15523054
GO:0005524 ATP binding IEA --
GO:0008514 organic anion transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC22A5: view
genes like me logo Genes that share phenotypes with SLC22A5: view

Human Phenotype Ontology for SLC22A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for SLC22A5 Gene

miRTarBase miRNAs that target SLC22A5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC22A5 Gene

Localization for SLC22A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC22A5 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 SLC22A5 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 2
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC22A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IC --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA --
GO:0016324 apical plasma membrane IDA 17274673
genes like me logo Genes that share ontologies with SLC22A5: view

Pathways & Interactions for SLC22A5 Gene

genes like me logo Genes that share pathways with SLC22A5: view

Gene Ontology (GO) - Biological Process for SLC22A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006855 drug transmembrane transport IEA --
GO:0009437 carnitine metabolic process IBA --
GO:0015695 organic cation transport IBA --
genes like me logo Genes that share ontologies with SLC22A5: view

No data available for SIGNOR curated interactions for SLC22A5 Gene

Drugs & Compounds for SLC22A5 Gene

Products:

  1. Drug

(69) Drugs for SLC22A5 Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desipramine Approved, Investigational Pharma Transporter, inhibitor 39
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibition, Inhibitor, Transporter, inhibitor 135
Amphetamine Approved, Illicit, Investigational Pharma Transporter, inhibitor 131
Ampicillin Approved, Vet_approved Pharma Transporter, inhibitor 63
Azidocillin Approved Pharma Transporter, inhibitor 0

(4) Additional Compounds for SLC22A5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
 7440-23-5
4-ene-Valproic acid
  • 4-En-valproic acid
  • 4-Ene-vpa
  • 4-En-valproate
  • 4-Ene-valproate
  • 2-Propyl-4-pentenoic acid, (+-)-isomer
O-Desmethylverapamil (D-702)
genes like me logo Genes that share compounds with SLC22A5: view

Transcripts for SLC22A5 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SLC22A5 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(85) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC22A5 Gene

Solute carrier family 22 (organic cation/carnitine transporter), member 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC22A5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: - - -
SP2: - - -
SP3:
SP4: - -
SP5:
SP6: -

Relevant External Links for SLC22A5 Gene

GeneLoc Exon Structure for
SLC22A5
ECgene alternative splicing isoforms for
SLC22A5

Expression for SLC22A5 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC22A5 Gene

mRNA expression in normal human tissues for SLC22A5 Gene
mRNA expression by GTEx for SLC22A5 GenemRNA expression by BioGPS for SLC22A5 Gene

mRNA differential expression in normal tissues according to GTEx for SLC22A5 Gene

This gene is overexpressed in Muscle - Skeletal (x7.5) and Kidney - Cortex (x6.6).

Protein differential expression in normal tissues from HIPED for SLC22A5 Gene

This gene is overexpressed in Cerebral cortex (32.9), Placenta (17.4), and Urine (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC22A5 Gene



Protein tissue co-expression partners for SLC22A5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC22A5 Gene:

SLC22A5

SOURCE GeneReport for Unigene cluster for SLC22A5 Gene:

Hs.443572

mRNA Expression by UniProt/SwissProt for SLC22A5 Gene:

O76082-S22A5_HUMAN
Tissue specificity: Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells.

Evidence on tissue expression from TISSUES for SLC22A5 Gene

  • Kidney(4.6)
  • Lung(4.3)
  • Skin(3.7)
  • Intestine(2.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC22A5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with SLC22A5: view

Orthologs for SLC22A5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC22A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SLC22A5 33
  • 98.86 (n)
cow
(Bos Taurus)
 Mammalia SLC22A5 34 33
  • 90.9 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SLC22A5 34 33
  • 89.81 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Slc22a5 16 34 33
  • 86.71 (n)
Slc22a21 34
  • 77 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Slc22a5 33
  • 86.54 (n)
oppossum
(Monodelphis domestica)
 Mammalia SLC22A5 34
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SLC22A5 34
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves -- 34
  • 30 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia SLC22A5 34
  • 68 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC101731319 33
  • 69.75 (n)
MGC76054 33
African clawed frog
(Xenopus laevis)
 Amphibia slc22a5-prov 33
zebrafish
(Danio rerio)
 Actinopterygii slc22a21 34
  • 60 (a)
 ManyToMany
slc22a4 34 33
  • 58.69 (n)
 ManyToMany
slc22a5 34
  • 47 (a)
 ManyToMany
zgc66036 33
fruit fly
(Drosophila melanogaster)
 Insecta Orct 35
  • 35 (a)
CG9317 35
  • 32 (a)
CG4630 35
  • 32 (a)
CG8654 35
  • 32 (a)
CG3790 35
  • 31 (a)
CG13610 35
  • 31 (a)
CG8925 35
  • 29 (a)
CG6126 35
  • 29 (a)
CG6600 35
  • 29 (a)
CG7084 35
  • 28 (a)
CG7442 35
  • 27 (a)
CG5592 35
  • 27 (a)
CG17751 35
  • 27 (a)
CG17752 35
  • 27 (a)
CG16727 35
  • 27 (a)
CG6356 35
  • 27 (a)
CG7458 35
  • 27 (a)
CG6231 35
  • 26 (a)
CG14857 35
  • 26 (a)
CG7333 35
  • 26 (a)
CG14855 35
  • 25 (a)
worm
(Caenorhabditis elegans)
 Secernentea F52F12.1a 35
  • 31 (a)
oct-1 35
  • 31 (a)
ZK455.8a 35
  • 28 (a)
ZK455.8b 35
  • 28 (a)
K05F1.6 35
  • 27 (a)
Y82E9BR.16 35
  • 26 (a)
B0252.3 35
  • 26 (a)
oat-1 35
  • 25 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons 2-Oct 33
  • 43.65 (n)
rice
(Oryza sativa)
 Liliopsida Os07g0562300 33
  • 46.75 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 31 (a)
 ManyToMany
-- 34
  • 30 (a)
 ManyToMany
-- 34
  • 30 (a)
 ManyToMany
-- 34
  • 29 (a)
 ManyToMany
Species where no ortholog for SLC22A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC22A5 Gene

ENSEMBL:
Gene Tree for SLC22A5 (if available)
TreeFam:
Gene Tree for SLC22A5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC22A5: view image

Paralogs for SLC22A5 Gene

Paralogs for SLC22A5 Gene

(13) SIMAP similar genes for SLC22A5 Gene using alignment to 5 proteins:

  • S22A5_HUMAN
  • F8WCC9_HUMAN
  • H7BZC0_HUMAN
  • H7BZF0_HUMAN
  • H7C1R8_HUMAN
genes like me logo Genes that share paralogs with SLC22A5: view

Variants for SLC22A5 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SLC22A5 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs10040427 not-provided, conflicting-interpretations-of-pathogenicity, benign, Renal carnitine transport defect, not specified 132,378,414(+) C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1045018 not-provided, Renal carnitine transport defect 132,369,935(+) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1045020 likely-benign, Renal carnitine transport defect 132,394,319(+) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1057516402 likely-pathogenic, Renal carnitine transport defect 132,394,183(+) A/G splice_acceptor_variant
rs1057516765 likely-pathogenic, Renal carnitine transport defect 132,378,475(+) C/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained

Variation tolerance for SLC22A5 Gene

Residual Variation Intolerance Score: 85.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC22A5 Gene

Human Gene Mutation Database (HGMD)
SLC22A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC22A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC22A5 Gene

Disorders for SLC22A5 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLC22A5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S22A5_HUMAN
  • Systemic primary carnitine deficiency (CDSP) [MIM:212140]: Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. {ECO:0000269 PubMed:10072434, ECO:0000269 PubMed:10425211, ECO:0000269 PubMed:10480371, ECO:0000269 PubMed:10545605, ECO:0000269 PubMed:10559218, ECO:0000269 PubMed:10612840, ECO:0000269 PubMed:10679939, ECO:0000269 PubMed:11058897, ECO:0000269 PubMed:11715001, ECO:0000269 PubMed:15617188, ECO:0000269 PubMed:15714519, ECO:0000269 PubMed:16931768, ECO:0000269 PubMed:17126586, ECO:0000269 PubMed:20027113, ECO:0000269 PubMed:20074989, ECO:0000269 PubMed:20574985, ECO:0000269 PubMed:21922592, ECO:0000269 PubMed:28841266}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC22A5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC22A5: view

No data available for Genatlas for SLC22A5 Gene

Publications for SLC22A5 Gene

  1. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. (PMID: 15714519) Dobrowolski SF … Longo N (Human mutation 2005) 3 4 22 44 58
  2. Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. (PMID: 10454528) Wu X … Ganapathy V (The Journal of pharmacology and experimental therapeutics 1999) 3 4 22 25 58
  3. cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. (PMID: 9618255) Wu X … Ganapathy V (Biochemical and biophysical research communications 1998) 2 3 4 25 58
  4. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. (PMID: 9685390) Tamai I … Tsuji A (The Journal of biological chemistry 1998) 2 3 4 22 58
  5. Transport of ipratropium, an anti-chronic obstructive pulmonary disease drug, is mediated by organic cation/carnitine transporters in human bronchial epithelial cells: implications for carrier-mediated pulmonary absorption. (PMID: 20020740) Nakamura T … Tamai I (Molecular pharmaceutics 2010) 3 22 25 58

Products for SLC22A5 Gene

Sources for SLC22A5 Gene