Details for: SLC22A5
Associated with
Cells (max top 100)
(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 1.91
Marker Score: 4783 - Cell Name: mural cell (CL0008034)
Fold Change: 1.47
Marker Score: 168984 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 1.22
Marker Score: 26095 - Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 1.11
Marker Score: 3928 - Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 1.09
Marker Score: 2572.5 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.07
Marker Score: 1652 - Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 1.07
Marker Score: 23807 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.06
Marker Score: 16569 - Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 1.04
Marker Score: 326 - Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 1.01
Marker Score: 2479 - Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71789 - Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48014 - Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30405 - Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 0.98
Marker Score: 569 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.96
Marker Score: 495 - Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.95
Marker Score: 449 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2410 - Cell Name: colon epithelial cell (CL0011108)
Fold Change: 0.95
Marker Score: 2976 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.93
Marker Score: 558 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2740 - Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.89
Marker Score: 5083 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 0.88
Marker Score: 7531.5 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.88
Marker Score: 315 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5286 - Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.87
Marker Score: 457 - Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.83
Marker Score: 1682 - Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.81
Marker Score: 1541 - Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.8
Marker Score: 3100 - Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 0.79
Marker Score: 1983 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1269 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.78
Marker Score: 593 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.76
Marker Score: 374 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.75
Marker Score: 7093 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.74
Marker Score: 3122 - Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.74
Marker Score: 385 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.74
Marker Score: 296 - Cell Name: germ cell (CL0000586)
Fold Change: 0.74
Marker Score: 1289 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 0.72
Marker Score: 6839 - Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 0.71
Marker Score: 762 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.71
Marker Score: 452 - Cell Name: brush cell (CL0002204)
Fold Change: 0.7
Marker Score: 641 - Cell Name: neuron (CL0000540)
Fold Change: 0.68
Marker Score: 2758 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.68
Marker Score: 173 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 0.66
Marker Score: 9935 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.65
Marker Score: 6752 - Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.64
Marker Score: 206 - Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 0.64
Marker Score: 1058 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.64
Marker Score: 39181 - Cell Name: enterocyte (CL0000584)
Fold Change: 0.63
Marker Score: 3018 - Cell Name: kidney cell (CL1000497)
Fold Change: 0.62
Marker Score: 416 - Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 0.61
Marker Score: 358 - Cell Name: astrocyte (CL0000127)
Fold Change: 0.6
Marker Score: 522 - Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 0.6
Marker Score: 2138 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.6
Marker Score: 2362 - Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.6
Marker Score: 22753 - Cell Name: type A enteroendocrine cell (CL0002067)
Fold Change: 0.6
Marker Score: 240 - Cell Name: renal principal cell (CL0005009)
Fold Change: 0.59
Marker Score: 455 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.58
Marker Score: 21401 - Cell Name: nephron tubule epithelial cell (CL1000494)
Fold Change: 0.58
Marker Score: 136 - Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.57
Marker Score: 4393 - Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 0.56
Marker Score: 921.5 - Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.55
Marker Score: 436 - Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.53
Marker Score: 571 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.53
Marker Score: 3169 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.53
Marker Score: 546 - Cell Name: enterocyte of colon (CL1000347)
Fold Change: 0.53
Marker Score: 809 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.52
Marker Score: 152 - Cell Name: basal cell of epidermis (CL0002187)
Fold Change: 0.52
Marker Score: 226 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.51
Marker Score: 692 - Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 0.49
Marker Score: 544.5 - Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.48
Marker Score: 1298 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.48
Marker Score: 704 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.48
Marker Score: 9507 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: 0.46
Marker Score: 486 - Cell Name: taste receptor cell (CL0000209)
Fold Change: 0.46
Marker Score: 396 - Cell Name: intestinal crypt stem cell (CL0002250)
Fold Change: 0.46
Marker Score: 172 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.45
Marker Score: 452 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 0.45
Marker Score: 1864 - Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.45
Marker Score: 454 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: 0.45
Marker Score: 230 - Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 0.44
Marker Score: 87 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.44
Marker Score: 1688 - Cell Name: precursor cell (CL0011115)
Fold Change: 0.44
Marker Score: 106 - Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 0.44
Marker Score: 616 - Cell Name: basal cell (CL0000646)
Fold Change: 0.43
Marker Score: 561 - Cell Name: cholangiocyte (CL1000488)
Fold Change: 0.43
Marker Score: 159 - Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.42
Marker Score: 109 - Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.42
Marker Score: 252 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.41
Marker Score: 496 - Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 0.41
Marker Score: 171 - Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.41
Marker Score: 198 - Cell Name: papillary tips cell (CL1000597)
Fold Change: 0.4
Marker Score: 81 - Cell Name: fat cell (CL0000136)
Fold Change: 0.4
Marker Score: 223 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.4
Marker Score: 872 - Cell Name: oogonial cell (CL0000024)
Fold Change: 0.4
Marker Score: 568 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 0.39
Marker Score: 134 - Cell Name: podocyte (CL0000653)
Fold Change: 0.39
Marker Score: 143 - Cell Name: mesothelial cell (CL0000077)
Fold Change: 0.39
Marker Score: 155 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.38
Marker Score: 876 - Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: 0.38
Marker Score: 3339
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Other Information
Genular Protein ID: 1476375046
Symbol: S22A5_HUMAN
Name: High-affinity sodium-dependent carnitine cotransporter
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9618255
Title: cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family.
PubMed ID: 9618255
PubMed ID: 9685390
Title: Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2.
PubMed ID: 9685390
PubMed ID: 9916797
Title: Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.
PubMed ID: 9916797
DOI: 10.1038/5030
PubMed ID: 17509700
Title: OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2.
PubMed ID: 17509700
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15372022
Title: The DNA sequence and comparative analysis of human chromosome 5.
PubMed ID: 15372022
DOI: 10.1038/nature02919
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 10525100
Title: Na(+)-dependent carnitine transport by organic cation transporter (OCTN2): its pharmacological and toxicological relevance.
PubMed ID: 10525100
PubMed ID: 10966938
Title: Functional and pharmacological characterization of human Na(+)-carnitine cotransporter hOCTN2.
PubMed ID: 10966938
PubMed ID: 17855766
Title: Transport of butyryl-L-carnitine, a potential prodrug, via the carnitine transporter OCTN2 and the amino acid transporter ATB(0,+).
PubMed ID: 17855766
PubMed ID: 18005709
Title: The Bacillus subtilis quorum-sensing molecule CSF contributes to intestinal homeostasis via OCTN2, a host cell membrane transporter.
PubMed ID: 18005709
PubMed ID: 19349973
Title: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.
PubMed ID: 19349973
DOI: 10.1038/nbt.1532
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 20722056
Title: Cytokine regulation of OCTN2 expression and activity in small and large intestine.
PubMed ID: 20722056
DOI: 10.1002/ibd.21444
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 33124720
Title: Deorphaning a solute carrier 22 family member, SLC22A15, through functional genomic studies.
PubMed ID: 33124720
PubMed ID: 33334877
Title: Cholesterol stimulates the cellular uptake of L-carnitine by the carnitine/organic cation transporter novel 2 (OCTN2).
PubMed ID: 33334877
PubMed ID: 35307651
Title: Localization of Xenobiotic Transporters Expressed at the Human Blood-Testis Barrier.
PubMed ID: 35307651
PubMed ID: 10425211
Title: Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
PubMed ID: 10425211
PubMed ID: 10480371
Title: Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
PubMed ID: 10480371
PubMed ID: 10072434
Title: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
PubMed ID: 10072434
DOI: 10.1093/hmg/8.4.655
PubMed ID: 10545605
Title: Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
PubMed ID: 10545605
PubMed ID: 10559218
Title: Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.
PubMed ID: 10559218
PubMed ID: 10454528
Title: Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter.
PubMed ID: 10454528
PubMed ID: 10612840
Title: Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.
PubMed ID: 10612840
DOI: 10.1002/(sici)1098-1004(200001)15:1<118::aid-humu28>3.0.co;2-8
PubMed ID: 10679939
Title: A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
PubMed ID: 10679939
DOI: 10.1002/(sici)1098-1004(200003)15:3<238::aid-humu4>3.0.co;2-3
PubMed ID: 11058897
Title: Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
PubMed ID: 11058897
DOI: 10.1002/1098-1004(200011)16:5<401::aid-humu4>3.0.co;2-j
PubMed ID: 11715001
Title: Phenotype and genotype variation in primary carnitine deficiency.
PubMed ID: 11715001
PubMed ID: 15617188
Title: Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
PubMed ID: 15617188
PubMed ID: 15714519
Title: Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
PubMed ID: 15714519
DOI: 10.1002/humu.20137
PubMed ID: 16931768
Title: Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
PubMed ID: 16931768
PubMed ID: 17126586
Title: Expanded newborn screening identifies maternal primary carnitine deficiency.
PubMed ID: 17126586
PubMed ID: 20027113
Title: Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
PubMed ID: 20027113
PubMed ID: 20574985
Title: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
PubMed ID: 20574985
DOI: 10.1002/humu.21311
PubMed ID: 20074989
Title: Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
PubMed ID: 20074989
PubMed ID: 21922592
Title: Genotype-phenotype correlation in primary carnitine deficiency.
PubMed ID: 21922592
DOI: 10.1002/humu.21607
PubMed ID: 28841266
Title: Functional and molecular studies in primary carnitine deficiency.
PubMed ID: 28841266
DOI: 10.1002/humu.23315
Sequence Information:
- Length: 557
- Mass: 62752
- Checksum: 928B1F6EFF63C48D
- Sequence:
MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFTGLSSV FLIATPEHRC RVPDAANLSS AWRNHTVPLR LRDGREVPHS CRRYRLATIA NFSALGLEPG RDVDLGQLEQ ESCLDGWEFS QDVYLSTIVT EWNLVCEDDW KAPLTISLFF VGVLLGSFIS GQLSDRFGRK NVLFVTMGMQ TGFSFLQIFS KNFEMFVVLF VLVGMGQISN YVAAFVLGTE ILGKSVRIIF STLGVCIFYA FGYMVLPLFA YFIRDWRMLL VALTMPGVLC VALWWFIPES PRWLISQGRF EEAEVIIRKA AKANGIVVPS TIFDPSELQD LSSKKQQSHN ILDLLRTWNI RMVTIMSIML WMTISVGYFG LSLDTPNLHG DIFVNCFLSA MVEVPAYVLA WLLLQYLPRR YSMATALFLG GSVLLFMQLV PPDLYYLATV LVMVGKFGVT AAFSMVYVYT AELYPTVVRN MGVGVSSTAS RLGSILSPYF VYLGAYDRFL PYILMGSLTI LTAILTLFLP ESFGTPLPDT IDQMLRVKGM KHRKTPSHTR MLKDGQERPT ILKSTAF
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.