Details for: SLC19A2

Gene ID: 10560

Symbol: SLC19A2

Ensembl ID: ENSG00000117479

Description: solute carrier family 19 member 2

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.88
    Marker Score: 3,075
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.56
    Marker Score: 10,695
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.01
    Marker Score: 5,037
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.71
    Marker Score: 2,523
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.67
    Marker Score: 487
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.66
    Marker Score: 928
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.65
    Marker Score: 1,089
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.61
    Marker Score: 1,692
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168,567
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.37
    Marker Score: 46,615
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.29
    Marker Score: 1,103
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.22
    Marker Score: 954
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.22
    Marker Score: 677
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.2
    Marker Score: 1,321
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.09
    Marker Score: 2,674
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.07
    Marker Score: 16,788
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.06
    Marker Score: 336
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.05
    Marker Score: 911
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.05
    Marker Score: 807
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.03
    Marker Score: 429
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.03
    Marker Score: 1,585
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.01
    Marker Score: 3,585
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,773
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,998
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.99
    Marker Score: 523
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,403
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 492
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 447
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.93
    Marker Score: 20,769
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.93
    Marker Score: 16,456
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,724
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.89
    Marker Score: 221
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.89
    Marker Score: 1,450
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5,012
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.88
    Marker Score: 202
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 314
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.85
    Marker Score: 211
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.84
    Marker Score: 211
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.84
    Marker Score: 30,874
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.82
    Marker Score: 1,024
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.81
    Marker Score: 2,133
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.8
    Marker Score: 1,890
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.8
    Marker Score: 8,248
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.8
    Marker Score: 257
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.8
    Marker Score: 3,304
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 600
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.78
    Marker Score: 638
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 306
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.75
    Marker Score: 4,833
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.75
    Marker Score: 197
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.74
    Marker Score: 917
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 384
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.74
    Marker Score: 3,195
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.74
    Marker Score: 4,427
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.74
    Marker Score: 14,650
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.73
    Marker Score: 355
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.72
    Marker Score: 661
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.72
    Marker Score: 1,589
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.71
    Marker Score: 414
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 453
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2,962
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.7
    Marker Score: 401
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.7
    Marker Score: 823
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.7
    Marker Score: 844
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.69
    Marker Score: 42,562
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.69
    Marker Score: 219
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.69
    Marker Score: 2,712
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.67
    Marker Score: 2,210
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.67
    Marker Score: 1,132
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.67
    Marker Score: 2,496
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.67
    Marker Score: 17,124
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.67
    Marker Score: 2,574
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.66
    Marker Score: 712
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.66
    Marker Score: 10,589
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.66
    Marker Score: 224
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.65
    Marker Score: 356
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.63
    Marker Score: 9,488
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.63
    Marker Score: 294
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.63
    Marker Score: 197
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.63
    Marker Score: 5,378
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.62
    Marker Score: 226
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.62
    Marker Score: 597
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.61
    Marker Score: 531
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.61
    Marker Score: 5,798
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.61
    Marker Score: 1,633
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.61
    Marker Score: 22,983
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.6
    Marker Score: 3,235
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.59
    Marker Score: 1,134
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.58
    Marker Score: 1,332
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.58
    Marker Score: 3,549
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.58
    Marker Score: 217
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.57
    Marker Score: 3,685
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.54
    Marker Score: 771
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 434
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.54
    Marker Score: 164
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.54
    Marker Score: 106
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.53
    Marker Score: 2,168

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** SLC19A2 is a member of the solute carrier family 19 and is specifically involved in the transport of thiamine across cell membranes. This gene is highly expressed in various tissues, including skeletal muscle, fat cells, and epithelial cells. The protein product of SLC19A2, Thiamine Transporter 1 (T1), is a transmembrane protein with 12 transmembrane domains, allowing it to selectively transport thiamine into cells. **Pathways and Functions:** SLC19A2 plays a crucial role in several cellular pathways, including: 1. **Thiamine Metabolism:** SLC19A2 is essential for the transport of thiamine into cells, where it is converted into thiamine pyrophosphate (TPP), a coenzyme required for energy metabolism and the synthesis of neurotransmitters. 2. **Spermatogenesis:** T1 is highly expressed in the testes, where it is involved in the transport of thiamine to sperm cells, ensuring proper energy metabolism and function. 3. **Immune Function:** Thiamine is essential for the proper functioning of the immune system, and SLC19A2 helps maintain thiamine levels in immune cells, such as macrophages and T cells. 4. **Metabolism of Water-Soluble Vitamins:** SLC19A2 is also involved in the transport of other water-soluble vitamins, including folic acid and pyridoxine, which are essential for various metabolic processes. **Clinical Significance:** Dysregulation of SLC19A2 has been implicated in several diseases, including: 1. **Thiamine Deficiency:** Thiamine deficiency can lead to beriberi, a condition characterized by muscle weakness, fatigue, and neurological symptoms. 2. **Spermatogenic Failure:** Abnormalities in SLC19A2 expression have been linked to male infertility and impaired spermatogenesis. 3. **Immune System Disorders:** Thiamine deficiency has been associated with impaired immune function, increasing the risk of infections and autoimmune diseases. 4. **Metabolic Disorders:** Dysregulation of SLC19A2 has been linked to metabolic disorders, such as diabetes and obesity, which are characterized by impaired energy metabolism. In conclusion, SLC19A2 plays a critical role in maintaining thiamine homeostasis and overall health. Further research is needed to fully understand the mechanisms of SLC19A2 and its implications in human disease.

Genular Protein ID: 2736025572

Symbol: S19A2_HUMAN

Name: Thiamine transporter 1

UniProtKB Accession Codes:

O60779 B2R9H0 B4E1X4 Q8WV87 Q9UBL7 Q9UKJ2 Q9UN31 Q9UN43

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 4 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 16 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIRSF 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 2 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10542220

Title: Cloning of the human thiamine transporter, a member of the folate transporter family.

PubMed ID: 10542220

DOI: 10.1074/jbc.274.45.31925

PubMed ID: 10391221

Title: Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.

PubMed ID: 10391221

DOI: 10.1038/10372

PubMed ID: 10391222

Title: The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.

PubMed ID: 10391222

DOI: 10.1038/10379

PubMed ID: 10391223

Title: Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.

PubMed ID: 10391223

DOI: 10.1038/10385

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 33008889

Title: pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates.

PubMed ID: 33008889

DOI: 10.1074/jbc.ra120.013610

PubMed ID: 35512554

Title: Animal species differences in the pyridoxine transport function of SLC19A3: Absence of Slc19a3-mediated pyridoxine uptake in the rat small intestine.

PubMed ID: 35512554

DOI: 10.1016/j.dmpk.2022.100456

PubMed ID: 35724964

Title: Identification of the amino acid residues involved in the species-dependent differences in the pyridoxine transport function of SLC19A3.

PubMed ID: 35724964

DOI: 10.1016/j.jbc.2022.102161

PubMed ID: 10874303

Title: The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.

PubMed ID: 10874303

DOI: 10.1002/1098-1004(200007)16:1<37::aid-humu7>3.0.co;2-9

Sequence Information:

  • Length: 497
  • Mass: 55400
  • Checksum: 87A993E2B6FBFE96
  • Sequence:
    • MDVPGPVSRR AAAAAATVLL RTARVRRECW FLPTALLCAY GFFASLRPSE PFLTPYLLGP 
DKNLTEREVF NEIYPVWTYS YLVLLFPVFL ATDYLRYKPV VLLQGLSLIV TWFMLLYAQG 
LLAIQFLEFF YGIATATEIA YYSYIYSVVD LGMYQKVTSY CRSATLVGFT VGSVLGQILV 
SVAGWSLFSL NVISLTCVSV AFAVAWFLPM PQKSLFFHHI PSTCQRVNGI KVQNGGIVTD 
TPASNHLPGW EDIESKIPLN MEEPPVEEPE PKPDRLLVLK VLWNDFLMCY SSRPLLCWSV 
WWALSTCGYF QVVNYTQGLW EKVMPSRYAA IYNGGVEAVS TLLGAVAVFA VGYIKISWST 
WGEMTLSLFS LLIAAAVYIM DTVGNIWVCY ASYVVFRIIY MLLITIATFQ IAANLSMERY 
ALVFGVNTFI ALALQTLLTL IVVDASGLGL EITTQFLIYA SYFALIAVVF LASGAVSVMK 
KCRKLEDPQS SSQVTTS

Genular Protein ID: 952596972

Symbol: A0A024R8Y5_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A024R8Y5

Database IDs:

ARBA 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 ExpressionAtlas 1 GO 3 GenomeRNAi 1 HOGENOM 1 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 1 RefSeq 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 296
  • Mass: 32858
  • Checksum: A8C5CDFF6D54540C
  • Sequence:
    • MDVPGPVSRR AAAAAATVLL RTARVRRECW FLPTALLCAY GFFASLRPSE PFLTPYLLGP 
DKNLTEREEP KPDRLLVLKV LWNDFLMCYS SRPLLCWSVW WALSTCGYFQ VVNYTQGLWE 
KVMPSRYAAI YNGGVEAVST LLGAVAVFAV GYIKISWSTW GEMTLSLFSL LIAAAVYIMD 
TVGNIWVCYA SYVVFRIIYM LLITIATFQI AANLSMERYA LVFGVNTFIA LALQTLLTLI 
VVDASGLGLE ITTQFLIYAS YFALIAVVFL ASGAVSVMKK CRKLEDPQSS SQVTTS

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.