psui3905/ncbi_genes_summary huggingface dataset:
SLC19A1, Official Symbol SLC19A1provided by HGNC Official Full Name solute carrier family 19 member 1provided by HGNC Primary source HGNC:HGNC:10937 See related Ensembl:ENSG00000173638 MIM:600424; AllianceGenome:HGNC:10937 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RFC; CHMD; FOLT; IFC1; REFC; RFC1; hRFC; IFC-1; MEGAF; RFT-1; hSLC19A1 Summary The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] Annotation information Note: RFC1 (GeneID: 5981) and SLC19A1 (GeneID: 6573) share the RFC1 symbol/alias in common. RFC1 is the official symbol for the gene name 'replication factor C subunit 1' and is an alias for 'reduced folate carrier 1' on the 'solute carrier family 19 member 1' gene. [18 May 2018] Expression Ubiquitous expression in liver (RPKM 10.8), placenta (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
SLC19A2, Official Symbol SLC19A2provided by HGNC Official Full Name solute carrier family 19 member 2provided by HGNC Primary source HGNC:HGNC:10938 See related Ensembl:ENSG00000117479 MIM:603941; AllianceGenome:HGNC:10938 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TC1; THT1; TRMA; THMD1; THTR1 Summary This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in gall bladder (RPKM 20.8), fat (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
SLC19A3, Official Symbol SLC19A3provided by HGNC Official Full Name solute carrier family 19 member 3provided by HGNC Primary source HGNC:HGNC:16266 See related Ensembl:ENSG00000135917 MIM:606152; AllianceGenome:HGNC:16266 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BBGD; THMD2; THTR2; hTHTR2; thTr-2 Summary This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010] Expression Biased expression in fat (RPKM 29.6), placenta (RPKM 8.5) and 5 other tissues See more Orthologs mouse all
SLC1A1, Official Symbol SLC1A1provided by HGNC Official Full Name solute carrier family 1 member 1provided by HGNC Primary source HGNC:HGNC:10939 See related Ensembl:ENSG00000106688 MIM:133550; AllianceGenome:HGNC:10939 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DCBXA; EAAC1; EAAT3; SCZD18; hEAAC1 Summary This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010] Expression Biased expression in small intestine (RPKM 11.7), kidney (RPKM 8.4) and 12 other tissues See more Orthologs mouse all
SLC1A2, Official Symbol SLC1A2provided by HGNC Official Full Name solute carrier family 1 member 2provided by HGNC Primary source HGNC:HGNC:10940 See related Ensembl:ENSG00000110436 MIM:600300; AllianceGenome:HGNC:10940 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GLT1; HBGT; DEE41; EAAT2; GLT-1; EIEE41 Summary This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017] Expression Restricted expression toward brain (RPKM 153.3) See more Orthologs mouse all
SLC1A2-AS1, Official Symbol SLC1A2-AS1provided by HGNC Official Full Name SLC1A2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40534 See related Ensembl:ENSG00000255004 AllianceGenome:HGNC:40534 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
SLC1A3, Official Symbol SLC1A3provided by HGNC Official Full Name solute carrier family 1 member 3provided by HGNC Primary source HGNC:HGNC:10941 See related Ensembl:ENSG00000079215 MIM:600111; AllianceGenome:HGNC:10941 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EA6; EAAT1; GLAST; GLAST1 Summary This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014] Expression Biased expression in brain (RPKM 174.8) and fat (RPKM 10.9) See more Orthologs mouse all
SLC1A4, Official Symbol SLC1A4provided by HGNC Official Full Name solute carrier family 1 member 4provided by HGNC Primary source HGNC:HGNC:10942 See related Ensembl:ENSG00000115902 MIM:600229; AllianceGenome:HGNC:10942 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SATT; ASCT1; SPATCCM Summary The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017] Expression Broad expression in brain (RPKM 33.8), adrenal (RPKM 12.8) and 23 other tissues See more Orthologs mouse all
SLC1A5, Official Symbol SLC1A5provided by HGNC Official Full Name solute carrier family 1 member 5provided by HGNC Primary source HGNC:HGNC:10943 See related Ensembl:ENSG00000105281 MIM:109190; AllianceGenome:HGNC:10943 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 R16; AAAT; ATBO; M7V1; RDRC; ASCT2; M7VS1 Summary The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011] Expression Ubiquitous expression in fat (RPKM 39.0), prostate (RPKM 26.2) and 22 other tissues See more Orthologs mouse all
SLC1A6, Official Symbol SLC1A6provided by HGNC Official Full Name solute carrier family 1 member 6provided by HGNC Primary source HGNC:HGNC:10944 See related Ensembl:ENSG00000105143 MIM:600637; AllianceGenome:HGNC:10944 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 EAAT4 Summary Predicted to enable high-affinity glutamate transmembrane transporter activity. Involved in neurotransmitter uptake. Located in intermediate filament cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.7), brain (RPKM 2.7) and 1 other tissue See more Orthologs mouse all
SLC1A7, Official Symbol SLC1A7provided by HGNC Official Full Name solute carrier family 1 member 7provided by HGNC Primary source HGNC:HGNC:10945 See related Ensembl:ENSG00000162383 MIM:604471; AllianceGenome:HGNC:10945 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 AAAT; EAAT5 Summary Predicted to enable anion transmembrane transporter activity. Involved in neurotransmitter reuptake. Predicted to be located in plasma membrane. Predicted to be active in glutamatergic synapse. Predicted to be integral component of postsynaptic membrane and integral component of presynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 2.6), small intestine (RPKM 2.2) and 17 other tissues See more Orthologs mouse all
SLC20A1, Official Symbol SLC20A1provided by HGNC Official Full Name solute carrier family 20 member 1provided by HGNC Primary source HGNC:HGNC:10946 See related Ensembl:ENSG00000144136 MIM:137570; AllianceGenome:HGNC:10946 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIT1; GLVR1; PiT-1; Glvr-1 Summary The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011] Expression Ubiquitous expression in bone marrow (RPKM 15.0), colon (RPKM 14.5) and 24 other tissues See more Orthologs mouse all
SLC20A2, Official Symbol SLC20A2provided by HGNC Official Full Name solute carrier family 20 member 2provided by HGNC Primary source HGNC:HGNC:10947 See related Ensembl:ENSG00000168575 MIM:158378; AllianceGenome:HGNC:10947 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIT2; RAM1; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR; PIT-2; Ram-1; GLVR-2 Summary This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in thyroid (RPKM 23.3), heart (RPKM 12.0) and 24 other tissues See more Orthologs mouse all
SLC22A1, Official Symbol SLC22A1provided by HGNC Official Full Name solute carrier family 22 member 1provided by HGNC Primary source HGNC:HGNC:10963 See related Ensembl:ENSG00000175003 MIM:602607; AllianceGenome:HGNC:10963 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OCT1; HOCT1; oct1_cds Summary 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. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 121.5) See more Orthologs all
SLC22A10, Official Symbol SLC22A10provided by HGNC Official Full Name solute carrier family 22 member 10provided by HGNC Primary source HGNC:HGNC:18057 See related Ensembl:ENSG00000184999 MIM:607580; AllianceGenome:HGNC:18057 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 OAT5; hOAT5 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in organic anion transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward liver (RPKM 17.4) See more Orthologs all
SLC22A11, Official Symbol SLC22A11provided by HGNC Official Full Name solute carrier family 22 member 11provided by HGNC Primary source HGNC:HGNC:18120 See related Ensembl:ENSG00000168065 MIM:607097; AllianceGenome:HGNC:18120 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OAT4; hOAT4 Summary The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Biased expression in placenta (RPKM 19.0) and kidney (RPKM 17.4) See more Orthologs all
SLC22A12, Official Symbol SLC22A12provided by HGNC Official Full Name solute carrier family 22 member 12provided by HGNC Primary source HGNC:HGNC:17989 See related Ensembl:ENSG00000197891 MIM:607096; AllianceGenome:HGNC:17989 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RST; UAT; OAT4L; URAT1; hURAT1 Summary The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Expression Restricted expression toward kidney (RPKM 60.9) See more Orthologs all
SLC22A13, Official Symbol SLC22A13provided by HGNC Official Full Name solute carrier family 22 member 13provided by HGNC Primary source HGNC:HGNC:8494 See related Ensembl:ENSG00000172940 MIM:604047; AllianceGenome:HGNC:8494 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OAT10; OCTL1; OCTL3; ORCTL3; ORCTL-3 Summary This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq, Sep 2008] Expression Restricted expression toward kidney (RPKM 6.8) See more Orthologs mouse all
SLC22A14, Official Symbol SLC22A14provided by HGNC Official Full Name solute carrier family 22 member 14provided by HGNC Primary source HGNC:HGNC:8495 See related Ensembl:ENSG00000144671 MIM:604048; AllianceGenome:HGNC:8495 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 OCTL2; OCTL4; ORCTL4 Summary This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Restricted expression toward testis (RPKM 3.4) See more Orthologs mouse all
SLC22A15, Official Symbol SLC22A15provided by HGNC Official Full Name solute carrier family 22 member 15provided by HGNC Primary source HGNC:HGNC:20301 See related Ensembl:ENSG00000163393 MIM:608275; AllianceGenome:HGNC:20301 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 FLIPT1; PRO34686 Summary Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004] Expression Broad expression in bone marrow (RPKM 6.8), skin (RPKM 3.1) and 19 other tissues See more Orthologs mouse all
SLC22A16, Official Symbol SLC22A16provided by HGNC Official Full Name solute carrier family 22 member 16provided by HGNC Primary source HGNC:HGNC:20302 See related Ensembl:ENSG00000004809 MIM:608276; AllianceGenome:HGNC:20302 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 CT2; OAT6; OCT6; OKB1; FLIPT2; HEL-S-18; dJ261K5.1 Summary This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011] Expression Biased expression in testis (RPKM 7.7) and bone marrow (RPKM 4.9) See more Orthologs mouse all
SLC22A17, Official Symbol SLC22A17provided by HGNC Official Full Name solute carrier family 22 member 17provided by HGNC Primary source HGNC:HGNC:23095 See related Ensembl:ENSG00000092096 MIM:611461; AllianceGenome:HGNC:23095 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 BOCT; BOIT; 24p3R; NGALR; hBOIT; NGALR2; NGALR3 Summary Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in siderophore transport. Is integral component of organelle membrane and integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 47.7), prostate (RPKM 11.1) and 10 other tissues See more Orthologs mouse all
SLC22A18, Official Symbol SLC22A18provided by HGNC Official Full Name solute carrier family 22 member 18provided by HGNC Primary source HGNC:HGNC:10964 See related Ensembl:ENSG00000110628 MIM:602631; AllianceGenome:HGNC:10964 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HET; ITM; BWR1A; IMPT1; TSSC5; ORCTL2; BWSCR1A; SLC22A1L; p45-BWR1A Summary This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015] Expression Broad expression in duodenum (RPKM 18.6), small intestine (RPKM 17.1) and 21 other tissues See more Orthologs mouse all
SLC22A18AS, Official Symbol SLC22A18ASprovided by HGNC Official Full Name SLC22A18 antisense RNAprovided by HGNC Primary source HGNC:HGNC:10965 See related Ensembl:ENSG00000254827 MIM:603240; AllianceGenome:HGNC:10965 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BWR1B; BWSCR1B; ORCTL2S; SLC22A1LS; p27-BWR1B Expression Broad expression in colon (RPKM 2.2), duodenum (RPKM 1.3) and 24 other tissues See more Orthologs all
SLC22A2, Official Symbol SLC22A2provided by HGNC Official Full Name solute carrier family 22 member 2provided by HGNC Primary source HGNC:HGNC:10966 See related Ensembl:ENSG00000112499 MIM:602608; AllianceGenome:HGNC:10966 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OCT2 Summary 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. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008] Expression Restricted expression toward kidney (RPKM 70.1) See more Orthologs mouse all
SLC22A20P, Official Symbol SLC22A20Pprovided by HGNC Official Full Name solute carrier family 22 member 20, pseudogeneprovided by HGNC Primary source HGNC:HGNC:29867 See related Ensembl:ENSG00000197847 MIM:611696; AllianceGenome:HGNC:29867 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Oat6; SLC22A20 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in ion transport and transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more
SLC22A23, 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
SLC22A24, Official Symbol SLC22A24provided by HGNC Official Full Name solute carrier family 22 member 24provided by HGNC Primary source HGNC:HGNC:28542 See related Ensembl:ENSG00000197658 MIM:611698; AllianceGenome:HGNC:28542 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 NET46 Summary SLC22A24 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 Low expression observed in reference dataset See more Orthologs all
SLC22A25, Official Symbol SLC22A25provided by HGNC Official Full Name solute carrier family 22 member 25provided by HGNC Primary source HGNC:HGNC:32935 See related Ensembl:ENSG00000196600 MIM:610792; AllianceGenome:HGNC:32935 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 UST6; HIMTP Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in organic anion transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward liver (RPKM 2.7) See more Orthologs all
SLC22A3, Official Symbol SLC22A3provided by HGNC Official Full Name solute carrier family 22 member 3provided by HGNC Primary source HGNC:HGNC:10967 See related Ensembl:ENSG00000146477 MIM:604842; AllianceGenome:HGNC:10967 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EMT; EMTH; OCT3 Summary 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. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 29.4), prostate (RPKM 6.3) and 10 other tissues See more Orthologs mouse all
SLC22A31, Official Symbol SLC22A31provided by HGNC Official Full Name solute carrier family 22 member 31provided by HGNC Primary source HGNC:HGNC:27091 See related Ensembl:ENSG00000259803 AllianceGenome:HGNC:27091 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 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in ion transport and transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Biased expression in lung (RPKM 12.0), pancreas (RPKM 1.5) and 2 other tissues See more Orthologs all
SLC22A4, Official Symbol SLC22A4provided by HGNC Official Full Name solute carrier family 22 member 4provided by HGNC Primary source HGNC:HGNC:10968 See related Ensembl:ENSG00000197208 MIM:604190; AllianceGenome:HGNC:10968 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ETTh; OCTN1; DFNB60 Summary 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 an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 7.1), small intestine (RPKM 3.8) and 16 other tissues See more Orthologs mouse all
SLC22A5, Official Symbol SLC22A5provided by HGNC Official Full Name solute carrier family 22 member 5provided by HGNC Primary source HGNC:HGNC:10969 See related Ensembl:ENSG00000197375 MIM:603377; AllianceGenome:HGNC:10969 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CDSP; OCTN2 Summary 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] Expression Broad expression in kidney (RPKM 17.3), small intestine (RPKM 11.3) and 23 other tissues See more Orthologs mouse all
SLC22A6, Official Symbol SLC22A6provided by HGNC Official Full Name solute carrier family 22 member 6provided by HGNC Primary source HGNC:HGNC:10970 See related Ensembl:ENSG00000197901 MIM:607582; AllianceGenome:HGNC:10970 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OAT1; PAHT; HOAT1; ROAT1 Summary The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward kidney (RPKM 150.9) See more Orthologs mouse all
SLC22A7, Official Symbol SLC22A7provided by HGNC Official Full Name solute carrier family 22 member 7provided by HGNC Primary source HGNC:HGNC:10971 See related Ensembl:ENSG00000137204 MIM:604995; AllianceGenome:HGNC:10971 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NLT; OAT2; hOAT11 Summary The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 51.8) and kidney (RPKM 19.9) See more Orthologs mouse all
SLC22A8, Official Symbol SLC22A8provided by HGNC Official Full Name solute carrier family 22 member 8provided by HGNC Primary source HGNC:HGNC:10972 See related Ensembl:ENSG00000149452 MIM:607581; AllianceGenome:HGNC:10972 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OAT3 Summary This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010] Expression Restricted expression toward kidney (RPKM 184.6) See more Orthologs mouse all
SLC22A9, Official Symbol SLC22A9provided by HGNC Official Full Name solute carrier family 22 member 9provided by HGNC Primary source HGNC:HGNC:16261 See related Ensembl:ENSG00000149742 MIM:607579; AllianceGenome:HGNC:16261 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 OAT4; OAT7; ust3; HOAT4; UST3H Summary Enables anion:anion antiporter activity; short-chain fatty acid transmembrane transporter activity; and sodium-independent organic anion transmembrane transporter activity. Involved in hormone transport; short-chain fatty acid import; and sodium-independent organic anion transport. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward liver (RPKM 8.3) See more Orthologs all
SLC23A1, Official Symbol SLC23A1provided by HGNC Official Full Name solute carrier family 23 member 1provided by HGNC Primary source HGNC:HGNC:10974 See related Ensembl:ENSG00000170482 MIM:603790; AllianceGenome:HGNC:10974 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SVCT1; YSPL3; SLC23A2 Summary The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Expression Biased expression in small intestine (RPKM 24.6), kidney (RPKM 21.3) and 4 other tissues See more Orthologs mouse all
SLC23A2, Official Symbol SLC23A2provided by HGNC Official Full Name solute carrier family 23 member 2provided by HGNC Primary source HGNC:HGNC:10973 See related Ensembl:ENSG00000089057 MIM:603791; AllianceGenome:HGNC:10973 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NBTL1; SVCT2; YSPL2; SLC23A1 Summary The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008] Expression Broad expression in adrenal (RPKM 40.7), brain (RPKM 20.8) and 23 other tissues See more Orthologs mouse all
SLC23A3, Official Symbol SLC23A3provided by HGNC Official Full Name solute carrier family 23 member 3provided by HGNC Primary source HGNC:HGNC:20601 See related Ensembl:ENSG00000213901 MIM:620339; AllianceGenome:HGNC:20601 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 E2BP3; SVCT3; Yspl1 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 21.8), small intestine (RPKM 10.2) and 3 other tissues See more Orthologs mouse all
SLC24A1, Official Symbol SLC24A1provided by HGNC Official Full Name solute carrier family 24 member 1provided by HGNC Primary source HGNC:HGNC:10975 See related Ensembl:ENSG00000074621 MIM:603617; AllianceGenome:HGNC:10975 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NCKX; RODX; NCKX1; CSNB1D; HsT17412 Summary This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in thyroid (RPKM 3.0), testis (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
SLC24A2, Official Symbol SLC24A2provided by HGNC Official Full Name solute carrier family 24 member 2provided by HGNC Primary source HGNC:HGNC:10976 See related Ensembl:ENSG00000155886 MIM:609838; AllianceGenome:HGNC:10976 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NCKX2 Summary This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Restricted expression toward brain (RPKM 17.5) See more Orthologs mouse all
SLC24A3, Official Symbol SLC24A3provided by HGNC Official Full Name solute carrier family 24 member 3provided by HGNC Primary source HGNC:HGNC:10977 See related Ensembl:ENSG00000185052 MIM:609839; AllianceGenome:HGNC:10977 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 NCKX3 Summary Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008] Expression Broad expression in endometrium (RPKM 17.0), esophagus (RPKM 12.0) and 19 other tissues See more Orthologs mouse all
SLC24A3-AS1, Official Symbol SLC24A3-AS1provided by HGNC Official Full Name SLC24A3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40540 See related Ensembl:ENSG00000179447 AllianceGenome:HGNC:40540 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
SLC24A4, Official Symbol SLC24A4provided by HGNC Official Full Name solute carrier family 24 member 4provided by HGNC Primary source HGNC:HGNC:10978 See related Ensembl:ENSG00000140090 MIM:609840; AllianceGenome:HGNC:10978 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AI2A5; NCKX4; SHEP6; SLC24A2 Summary Enables calcium, potassium:sodium antiporter activity. Involved in calcium ion transmembrane transport; potassium ion transmembrane transport; and sodium ion transmembrane transport. Acts upstream of or within cellular calcium ion homeostasis. Part of plasma membrane. Implicated in amelogenesis imperfecta hypomaturation type 2A5. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SLC24A5, Official Symbol SLC24A5provided by HGNC Official Full Name solute carrier family 24 member 5provided by HGNC Primary source HGNC:HGNC:20611 See related Ensembl:ENSG00000188467 MIM:609802; AllianceGenome:HGNC:20611 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JSX; OCA6; NCKX5; SHEP4 Summary This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 6.4), adrenal (RPKM 4.4) and 23 other tissues See more Orthologs mouse all
SLC25A1, Official Symbol SLC25A1provided by HGNC Official Full Name solute carrier family 25 member 1provided by HGNC Primary source HGNC:HGNC:10979 See related Ensembl:ENSG00000100075 MIM:190315; AllianceGenome:HGNC:10979 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CIC; CTP; SEA; CMS23; D2L2AD; SLC20A3 Summary This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in fat (RPKM 63.8), kidney (RPKM 36.9) and 25 other tissues See more Orthologs mouse all
SLC25A10, Official Symbol SLC25A10provided by HGNC Official Full Name solute carrier family 25 member 10provided by HGNC Primary source HGNC:HGNC:10980 See related Ensembl:ENSG00000183048 MIM:606794; AllianceGenome:HGNC:10980 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DIC; MTDPS19 Summary This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] Expression Broad expression in kidney (RPKM 33.1), liver (RPKM 15.3) and 20 other tissues See more Orthologs mouse all