psui3905/ncbi_genes_summary huggingface dataset:
SLC6A11, Official Symbol SLC6A11provided by HGNC Official Full Name solute carrier family 6 member 11provided by HGNC Primary source HGNC:HGNC:11044 See related Ensembl:ENSG00000132164 MIM:607952; AllianceGenome:HGNC:11044 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 GAT3; GAT4; GAT-3 Summary The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Expression Biased expression in brain (RPKM 2.2), esophagus (RPKM 0.8) and 3 other tissues See more Orthologs mouse all
SLC6A12, Official Symbol SLC6A12provided by HGNC Official Full Name solute carrier family 6 member 12provided by HGNC Primary source HGNC:HGNC:11045 See related Ensembl:ENSG00000111181 MIM:603080; AllianceGenome:HGNC:11045 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 BGT1; GAT2; BGT-1 Summary Enables monocarboxylic acid transmembrane transporter activity. Involved in monocarboxylic acid transport. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in neuron projection. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 12.1), kidney (RPKM 10.0) and 5 other tissues See more Orthologs all
SLC6A12-AS1, Official Symbol SLC6A12-AS1provided by HGNC Official Full Name SLC6A12 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40548 See related Ensembl:ENSG00000256577 AllianceGenome:HGNC:40548 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in liver (RPKM 2.3), kidney (RPKM 1.6) and 7 other tissues See more
SLC6A13, Official Symbol SLC6A13provided by HGNC Official Full Name solute carrier family 6 member 13provided by HGNC Primary source HGNC:HGNC:11046 See related Ensembl:ENSG00000010379 MIM:615097; AllianceGenome:HGNC:11046 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 GAT2; GAT3; GAT-2 Summary Enables amino acid transmembrane transporter activity and monocarboxylic acid transmembrane transporter activity. Involved in amino acid import across plasma membrane and monocarboxylic acid transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 28.5) and liver (RPKM 1.5) See more Orthologs mouse all
SLC6A14, Official Symbol SLC6A14provided by HGNC Official Full Name solute carrier family 6 member 14provided by HGNC Primary source HGNC:HGNC:11047 See related Ensembl:ENSG00000268104 MIM:300444; AllianceGenome:HGNC:11047 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 BMIQ11 Summary This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010] Expression Biased expression in lung (RPKM 8.9), salivary gland (RPKM 4.7) and 7 other tissues See more Orthologs mouse all
SLC6A14P1, Official Symbol SLC6A14P1provided by HGNC Official Full Name SLC6A14 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54529 See related Ensembl:ENSG00000236077 AllianceGenome:HGNC:54529 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SLC6A14P2, Official Symbol SLC6A14P2provided by HGNC Official Full Name SLC6A14 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54530 See related AllianceGenome:HGNC:54530 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SLC6A15, Official Symbol SLC6A15provided by HGNC Official Full Name solute carrier family 6 member 15provided by HGNC Primary source HGNC:HGNC:13621 See related Ensembl:ENSG00000072041 MIM:607971; AllianceGenome:HGNC:13621 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 V7-3; NTT73; SBAT1; hv7-3 Summary This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Expression Biased expression in brain (RPKM 5.0), placenta (RPKM 1.2) and 3 other tissues See more Orthologs mouse all
SLC6A16, Official Symbol SLC6A16provided by HGNC Official Full Name solute carrier family 6 member 16provided by HGNC Primary source HGNC:HGNC:13622 See related Ensembl:ENSG00000063127 MIM:607972; AllianceGenome:HGNC:13622 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 NT5; NTT5 Summary SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 36.6) and ovary (RPKM 1.3) See more Orthologs mouse all
SLC6A17, Official Symbol SLC6A17provided by HGNC Official Full Name solute carrier family 6 member 17provided by HGNC Primary source HGNC:HGNC:31399 See related Ensembl:ENSG00000197106 MIM:610299; AllianceGenome:HGNC:31399 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 NTT4; MRT48 Summary The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017] Expression Biased expression in brain (RPKM 23.3), adrenal (RPKM 2.5) and 1 other tissue See more Orthologs mouse all
SLC6A17-AS1, Official Symbol SLC6A17-AS1provided by HGNC Official Full Name SLC6A17 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41279 See related Ensembl:ENSG00000227091 AllianceGenome:HGNC:41279 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in brain (RPKM 6.1), testis (RPKM 1.0) and 2 other tissues See more
SLC6A18, Official Symbol SLC6A18provided by HGNC Official Full Name solute carrier family 6 member 18provided by HGNC Primary source HGNC:HGNC:26441 See related Ensembl:ENSG00000164363 MIM:610300; AllianceGenome:HGNC:26441 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 Xtrp2 Summary The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010] Expression Restricted expression toward kidney (RPKM 7.1) See more Orthologs mouse all
SLC6A19, Official Symbol SLC6A19provided by HGNC Official Full Name solute carrier family 6 member 19provided by HGNC Primary source HGNC:HGNC:27960 See related Ensembl:ENSG00000174358 MIM:608893; AllianceGenome:HGNC:27960 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 HND; B0AT1 Summary This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Biased expression in small intestine (RPKM 76.0), duodenum (RPKM 71.7) and 1 other tissue See more Orthologs mouse all
SLC6A2, Official Symbol SLC6A2provided by HGNC Official Full Name solute carrier family 6 member 2provided by HGNC Primary source HGNC:HGNC:11048 See related Ensembl:ENSG00000103546 MIM:163970; AllianceGenome:HGNC:11048 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 NET; NAT1; NET1; SLC6A5 Summary This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] Annotation information Note: NET is an alias on both SLC6A2 (Gene ID: 6530, "norepinephrine transporter") and ELK3 (Gene ID: 2004). [01 Jun 2018] Expression Biased expression in adrenal (RPKM 4.7), placenta (RPKM 2.3) and 3 other tissues See more Orthologs mouse all
SLC6A20, Official Symbol SLC6A20provided by HGNC Official Full Name solute carrier family 6 member 20provided by HGNC Primary source HGNC:HGNC:30927 See related Ensembl:ENSG00000163817 MIM:605616; AllianceGenome:HGNC:30927 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 XT3; SIT1; IMINO; Xtrp3 Summary Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020] 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 duodenum (RPKM 11.0), small intestine (RPKM 8.2) and 4 other tissues See more Orthologs mouse all
SLC6A3, Official Symbol SLC6A3provided by HGNC Official Full Name solute carrier family 6 member 3provided by HGNC Primary source HGNC:HGNC:11049 See related Ensembl:ENSG00000142319 MIM:126455; AllianceGenome:HGNC:11049 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 DAT; DAT1; PKDYS; PKDYS1 Summary This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
SLC6A4, Official Symbol SLC6A4provided by HGNC Official Full Name solute carrier family 6 member 4provided by HGNC Primary source HGNC:HGNC:11050 See related Ensembl:ENSG00000108576 MIM:182138; AllianceGenome:HGNC:11050 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 HTT; 5HTT; OCD1; SERT; 5-HTT; SERT1; hSERT; 5-HTTLPR Summary This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake. There have been conflicting results in the literature about the possible effect, if any, that this polymorphism may play in behavior and depression. [provided by RefSeq, May 2019] Expression Biased expression in lung (RPKM 18.0), small intestine (RPKM 13.9) and 3 other tissues See more Orthologs mouse all
SLC6A5, Official Symbol SLC6A5provided by HGNC Official Full Name solute carrier family 6 member 5provided by HGNC Primary source HGNC:HGNC:11051 See related Ensembl:ENSG00000165970 MIM:604159; AllianceGenome:HGNC:11051 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 NET1; GLYT2; HKPX3; GLYT-2 Summary This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
SLC6A6, Official Symbol SLC6A6provided by HGNC Official Full Name solute carrier family 6 member 6provided by HGNC Primary source HGNC:HGNC:11052 See related Ensembl:ENSG00000131389 MIM:186854; AllianceGenome:HGNC:11052 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 TAUT; HTRDC Summary This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Ubiquitous expression in ovary (RPKM 26.5), spleen (RPKM 20.3) and 23 other tissues See more Orthologs mouse all
SLC6A6P1, Official Symbol SLC6A6P1provided by HGNC Official Full Name solute carrier family 6 member 6 pseudogene 1provided by HGNC Primary source HGNC:HGNC:11053 See related AllianceGenome:HGNC:11053 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLC6A6P
SLC6A7, Official Symbol SLC6A7provided by HGNC Official Full Name solute carrier family 6 member 7provided by HGNC Primary source HGNC:HGNC:11054 See related Ensembl:ENSG00000011083 MIM:606205; AllianceGenome:HGNC:11054 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 PROT Summary This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 4.6), small intestine (RPKM 0.9) and 2 other tissues See more Orthologs mouse all
SLC6A8, Official Symbol SLC6A8provided by HGNC Official Full Name solute carrier family 6 member 8provided by HGNC Primary source HGNC:HGNC:11055 See related Ensembl:ENSG00000130821 MIM:300036; AllianceGenome:HGNC:11055 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 CRT; CT1; CRT1; CRTR; CTR5; CCDS1; CRT-1 Summary The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Expression Broad expression in small intestine (RPKM 30.0), heart (RPKM 29.5) and 21 other tissues See more Orthologs mouse all
SLC6A9, Official Symbol SLC6A9provided by HGNC Official Full Name solute carrier family 6 member 9provided by HGNC Primary source HGNC:HGNC:11056 See related Ensembl:ENSG00000196517 MIM:601019; AllianceGenome:HGNC:11056 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 GLYT1; GCENSG Summary The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016] Expression Broad expression in skin (RPKM 13.4), adrenal (RPKM 9.7) and 18 other tissues See more Orthologs mouse all
SLC7A1, Official Symbol SLC7A1provided by HGNC Official Full Name solute carrier family 7 member 1provided by HGNC Primary source HGNC:HGNC:11057 See related Ensembl:ENSG00000139514 MIM:104615; AllianceGenome:HGNC:11057 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 ERR; ATRC1; CAT-1; HCAT1; REC1L Summary Enables L-arginine transmembrane transporter activity and L-histidine transmembrane transporter activity. Involved in amino acid transport. Located in membrane. Part of apical plasma membrane; basolateral plasma membrane; and protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 22.4), brain (RPKM 11.3) and 24 other tissues See more Orthologs mouse all
SLC7A10, Official Symbol SLC7A10provided by HGNC Official Full Name solute carrier family 7 member 10provided by HGNC Primary source HGNC:HGNC:11058 See related Ensembl:ENSG00000130876 MIM:607959; AllianceGenome:HGNC:11058 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 ASC1; asc-1; HASC-1 Summary SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008] Expression Broad expression in fat (RPKM 24.7), ovary (RPKM 10.1) and 14 other tissues See more Orthologs mouse all
SLC7A11, Official Symbol SLC7A11provided by HGNC Official Full Name solute carrier family 7 member 11provided by HGNC Primary source HGNC:HGNC:11059 See related Ensembl:ENSG00000151012 MIM:607933; AllianceGenome:HGNC:11059 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 xCT; CCBR1 Summary This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011] Expression Biased expression in brain (RPKM 12.7), thyroid (RPKM 4.9) and 8 other tissues See more Orthologs mouse all
SLC7A11-AS1, Official Symbol SLC7A11-AS1provided by HGNC Official Full Name SLC7A11 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44064 See related Ensembl:ENSG00000250033 AllianceGenome:HGNC:44064 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in brain (RPKM 7.0), stomach (RPKM 3.2) and 14 other tissues See more
SLC7A13, Official Symbol SLC7A13provided by HGNC Official Full Name solute carrier family 7 member 13provided by HGNC Primary source HGNC:HGNC:23092 See related Ensembl:ENSG00000164893 MIM:617256; AllianceGenome:HGNC:23092 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 AGT1; XAT2; AGT-1 Summary Predicted to enable L-amino acid transmembrane transporter activity. Predicted to be involved in L-cystine transport; L-glutamate transmembrane transport; and aspartate transmembrane transport. Predicted to be integral component of membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward kidney (RPKM 11.0) See more Orthologs mouse all
SLC7A14, Official Symbol SLC7A14provided by HGNC Official Full Name solute carrier family 7 member 14provided by HGNC Primary source HGNC:HGNC:29326 See related Ensembl:ENSG00000013293 MIM:615720; AllianceGenome:HGNC:29326 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 PPP1R142 Summary This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014] Expression Biased expression in brain (RPKM 21.6) and adrenal (RPKM 2.0) See more Orthologs mouse all
SLC7A14-AS1, Official Symbol SLC7A14-AS1provided by HGNC Official Full Name SLC7A14 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54092 See related Ensembl:ENSG00000285051 AllianceGenome:HGNC:54092 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in brain (RPKM 14.6) and adrenal (RPKM 0.7) See more
SLC7A15P, Official Symbol SLC7A15Pprovided by HGNC Official Full Name solute carrier family 7 member 15, pseudogeneprovided by HGNC Primary source HGNC:HGNC:32724 See related Ensembl:ENSG00000232800 AllianceGenome:HGNC:32724 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARPAT Summary Predicted to enable amino acid transmembrane transporter activity. Predicted to act upstream of or within amino acid transport. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
SLC7A2, Official Symbol SLC7A2provided by HGNC Official Full Name solute carrier family 7 member 2provided by HGNC Primary source HGNC:HGNC:11060 See related Ensembl:ENSG00000003989 MIM:601872; AllianceGenome:HGNC:11060 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 CAT2; ATRC2; HCAT2 Summary The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in liver (RPKM 59.2), thyroid (RPKM 35.6) and 15 other tissues See more Orthologs mouse all
SLC7A3, Official Symbol SLC7A3provided by HGNC Official Full Name solute carrier family 7 member 3provided by HGNC Primary source HGNC:HGNC:11061 See related Ensembl:ENSG00000165349 MIM:300443; AllianceGenome:HGNC:11061 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 CAT3; ATRC3; CAT-3 Summary This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010] Expression Biased expression in endometrium (RPKM 1.9), prostate (RPKM 1.2) and 8 other tissues See more Orthologs mouse all
SLC7A4, Official Symbol SLC7A4provided by HGNC Official Full Name solute carrier family 7 member 4provided by HGNC Primary source HGNC:HGNC:11062 See related Ensembl:ENSG00000099960 MIM:603752; AllianceGenome:HGNC:11062 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 VH; CAT4; CAT-4; HCAT3 Summary Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in amino acid transport. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 11.6), esophagus (RPKM 3.0) and 12 other tissues See more Orthologs mouse all
SLC7A5, Official Symbol SLC7A5provided by HGNC Official Full Name solute carrier family 7 member 5provided by HGNC Primary source HGNC:HGNC:11063 See related Ensembl:ENSG00000103257 MIM:600182; AllianceGenome:HGNC:11063 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 E16; CD98; LAT1; 4F2LC; MPE16; D16S469E Summary Enables L-leucine transmembrane transporter activity; L-tryptophan transmembrane transporter activity; and thyroid hormone transmembrane transporter activity. Involved in carboxylic acid transport; thyroid hormone transport; and xenobiotic transport. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. Is integral component of membrane. Part of amino acid transport complex; apical plasma membrane; and microvillus membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 35.6), bone marrow (RPKM 34.4) and 17 other tissues See more Orthologs mouse all
SLC7A5P1, Official Symbol SLC7A5P1provided by HGNC Official Full Name solute carrier family 7 member 5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:29458 See related Ensembl:ENSG00000260727 AllianceGenome:HGNC:29458 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DC49; MLAS; LAT1-3TM; hLAT1-3TM Summary This locus represents a pseudogene of the L-type amino acid transporter 1. Transcripts initiating at this locus read through to downstream SMG1 pseudogene 2 (SMG1P2). [provided by RefSeq, Feb 2016]
SLC7A6, Official Symbol SLC7A6provided by HGNC Official Full Name solute carrier family 7 member 6provided by HGNC Primary source HGNC:HGNC:11064 See related Ensembl:ENSG00000103064 MIM:605641; AllianceGenome:HGNC:11064 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 LAT3; LAT-2; y+LAT-2 Summary Enables basic amino acid transmembrane transporter activity. Involved in basic amino acid transmembrane transport and ornithine transport. Located in intracellular membrane-bounded organelle and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 11.5), lymph node (RPKM 10.0) and 24 other tissues See more Orthologs mouse all
SLC7A6OS, Official Symbol SLC7A6OSprovided by HGNC Official Full Name solute carrier family 7 member 6 opposite strandprovided by HGNC Primary source HGNC:HGNC:25807 See related Ensembl:ENSG00000103061 MIM:619192; AllianceGenome:HGNC:25807 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 Iwr1; EPM12 Summary Predicted to be involved in developmental process. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in cytoplasm and nucleus. Implicated in progressive myoclonus epilepsy. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 16.2), lymph node (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
SLC7A7, Official Symbol SLC7A7provided by HGNC Official Full Name solute carrier family 7 member 7provided by HGNC Primary source HGNC:HGNC:11065 See related Ensembl:ENSG00000155465 MIM:603593; AllianceGenome:HGNC:11065 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 LPI; LAT3; MOP-2; Y+LAT1; y+LAT-1 Summary The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] Expression Biased expression in kidney (RPKM 96.7), small intestine (RPKM 45.3) and 11 other tissues See more Orthologs mouse all
SLC7A8, Official Symbol SLC7A8provided by HGNC Official Full Name solute carrier family 7 member 8provided by HGNC Primary source HGNC:HGNC:11066 See related Ensembl:ENSG00000092068 MIM:604235; AllianceGenome:HGNC:11066 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 LAT2; LPI-PC1 Summary Enables several functions, including neutral amino acid transmembrane transporter activity; thyroid hormone transmembrane transporter activity; and toxin transmembrane transporter activity. Involved in L-alanine import across plasma membrane; L-leucine import across plasma membrane; and thyroid hormone transport. Located in plasma membrane. Part of basolateral plasma membrane and microvillus membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: LAT2 (Gene ID: 7462) and SLC7A8 (Gene ID: 23428) share the LAT2 symbol/alias in common. LAT2 is sometimes used as an alternative name for solute carrier family 7 member 8 (SLC7A8), which can be confused with the official symbol for linker for activation of T cells family member 2 (LAT2). [05 Jul 2018] Expression Broad expression in kidney (RPKM 77.2), prostate (RPKM 18.0) and 18 other tissues See more Orthologs mouse all
SLC7A9, Official Symbol SLC7A9provided by HGNC Official Full Name solute carrier family 7 member 9provided by HGNC Primary source HGNC:HGNC:11067 See related Ensembl:ENSG00000021488 MIM:604144; AllianceGenome:HGNC:11067 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 BAT1; CSNU3 Summary This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011] Expression Biased expression in small intestine (RPKM 31.7), duodenum (RPKM 21.2) and 2 other tissues See more Orthologs mouse all
SLC8A1, Official Symbol SLC8A1provided by HGNC Official Full Name solute carrier family 8 member A1provided by HGNC Primary source HGNC:HGNC:11068 See related Ensembl:ENSG00000183023 MIM:182305; AllianceGenome:HGNC:11068 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 NCX1 Summary In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] Expression Broad expression in heart (RPKM 35.6), endometrium (RPKM 9.9) and 16 other tissues See more Orthologs mouse all
SLC8A1-AS1, Official Symbol SLC8A1-AS1provided by HGNC Official Full Name SLC8A1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44102 See related Ensembl:ENSG00000227028 AllianceGenome:HGNC:44102 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in esophagus (RPKM 1.2), testis (RPKM 0.2) and 5 other tissues See more
SLC8A2, Official Symbol SLC8A2provided by HGNC Official Full Name solute carrier family 8 member A2provided by HGNC Primary source HGNC:HGNC:11069 See related Ensembl:ENSG00000118160 MIM:601901; AllianceGenome:HGNC:11069 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 NCX2 Summary Predicted to enable calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration and calcium:sodium antiporter activity. Predicted to be involved in several processes, including inorganic cation transmembrane transport; learning or memory; and regulation of short-term neuronal synaptic plasticity. Predicted to act upstream of or within several processes, including modulation of chemical synaptic transmission; regulation of action potential firing pattern; and response to ischemia. Part of presynapse. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 19.6), endometrium (RPKM 1.5) and 1 other tissue See more Orthologs mouse all
SLC8A3, Official Symbol SLC8A3provided by HGNC Official Full Name solute carrier family 8 member A3provided by HGNC Primary source HGNC:HGNC:11070 See related Ensembl:ENSG00000100678 MIM:607991; AllianceGenome:HGNC:11070 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 NCX3 Summary This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013] Expression Biased expression in brain (RPKM 2.0), adrenal (RPKM 0.3) and 4 other tissues See more Orthologs mouse all
SLC8B1, Official Symbol SLC8B1provided by HGNC Official Full Name solute carrier family 8 member B1provided by HGNC Primary source HGNC:HGNC:26175 See related Ensembl:ENSG00000089060 MIM:609841; AllianceGenome:HGNC:26175 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 NCLX; NCKX6; SLC24A6 Summary SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in ovary (RPKM 24.7), adrenal (RPKM 19.7) and 25 other tissues See more Orthologs mouse all
SLC9A1, Official Symbol SLC9A1provided by HGNC Official Full Name solute carrier family 9 member A1provided by HGNC Primary source HGNC:HGNC:11071 See related Ensembl:ENSG00000090020 MIM:107310; AllianceGenome:HGNC:11071 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 APNH; NHE1; LIKNS; NHE-1; PPP1R143 Summary This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in stomach (RPKM 26.5), salivary gland (RPKM 13.2) and 23 other tissues See more Orthologs mouse all
SLC9A2, Official Symbol SLC9A2provided by HGNC Official Full Name solute carrier family 9 member A2provided by HGNC Primary source HGNC:HGNC:11072 See related Ensembl:ENSG00000115616 MIM:600530; AllianceGenome:HGNC:11072 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 NHE2 Summary This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016] Expression Biased expression in stomach (RPKM 13.9), colon (RPKM 13.0) and 10 other tissues See more Orthologs mouse all
SLC9A3, Official Symbol SLC9A3provided by HGNC Official Full Name solute carrier family 9 member A3provided by HGNC Primary source HGNC:HGNC:11073 See related Ensembl:ENSG00000066230 MIM:182307; AllianceGenome:HGNC:11073 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 NHE3; DIAR8; NHE-3 Summary The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016] Expression Biased expression in colon (RPKM 56.4), kidney (RPKM 51.3) and 9 other tissues See more Orthologs mouse all
SLC9A3P2, Official Symbol SLC9A3P2provided by HGNC Official Full Name solute carrier family 9 member 3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:19325 See related Ensembl:ENSG00000238125 AllianceGenome:HGNC:19325 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SLC9A3P3, Official Symbol SLC9A3P3provided by HGNC Official Full Name solute carrier family 9 member 3 pseudogene 3provided by HGNC Primary source HGNC:HGNC:33492 See related Ensembl:ENSG00000226631 AllianceGenome:HGNC:33492 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo