SLC6A19 Gene (Protein Coding)

Solute Carrier Family 6 Member 19

GC05P001201
GIFtS:
44
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 result in Hartnup disorder. SARS-CoV-2 interacts with the angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of SLC6A19. [provided by RefSeq, ... See more...

Aliases for SLC6A19 Gene

Aliases for SLC6A19 Gene

  • Solute Carrier Family 6 Member 19 2 3 4 5
  • Solute Carrier Family 6 (Neutral Amino Acid Transporter), Member 19 2 3
  • Sodium-Dependent Neutral Amino Acid Transporter B(0)AT1 3 4
  • System B(0) Neutral Amino Acid Transporter AT1 3 4
  • B0AT1 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 19 3
  • Sodium-Dependent Amino Acid Transporter System B0 3
  • System B0 Neutral Amino Acid Transporter 3
  • Hartnup Disease 2
  • SLC6A19 5
  • HND 3

External Ids for SLC6A19 Gene

Previous GeneCards Identifiers for SLC6A19 Gene

  • GC05P001256
  • GC05P001257

Summaries for SLC6A19 Gene

Entrez Gene Summary for SLC6A19 Gene

  • 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 result in Hartnup disorder. SARS-CoV-2 interacts with the angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of SLC6A19. [provided by RefSeq, Jun 2020]

GeneCards Summary for SLC6A19 Gene

SLC6A19 (Solute Carrier Family 6 Member 19) is a Protein Coding gene. Diseases associated with SLC6A19 include Hartnup Disorder and Iminoglycinuria. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and neutral amino acid transmembrane transporter activity. An important paralog of this gene is SLC6A18.

UniProtKB/Swiss-Prot Summary for SLC6A19 Gene

  • Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:19185582, PubMed:15286788). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582, PubMed:18424768).

Gene Wiki entry for SLC6A19 Gene

Additional gene information for SLC6A19 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC6A19 Gene

Genomics for SLC6A19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

GeneHancers around SLC6A19 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC6A19

Top Transcription factor binding sites by QIAGEN in the SLC6A19 gene promoter:
  • AML1a
  • c-Myc
  • CUTL1
  • Egr-3
  • Ik-2
  • Max
  • NF-kappaB
  • NRSF form 1
  • NRSF form 2
  • p53

Genomic Locations for SLC6A19 Gene

Genomic Locations for SLC6A19 Gene
chr5:1,201,595-1,225,111
(GRCh38/hg38)
Size:
23,517 bases
Orientation:
Plus strand
chr5:1,201,710-1,225,232
(GRCh37/hg19)
Size:
23,523 bases
Orientation:
Plus strand

Genomic View for SLC6A19 Gene

Genes around SLC6A19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A19 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC6A19 Gene

Proteins for SLC6A19 Gene

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  • Protein details for SLC6A19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q695T7-S6A19_HUMAN
    Recommended name:
    Sodium-dependent neutral amino acid transporter B(0)AT1
    Protein Accession:
    Q695T7
    Secondary Accessions:
    • A8K446

    Protein attributes for SLC6A19 Gene

    Size:
    634 amino acids
    Molecular mass:
    71110 Da
    Quaternary structure:
    • Interacts in a tissue-specific manner with ACE2 in small intestine and with CLTRN in the kidney (By similarity). Interacts with CLTRN; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in kidneys (By similarity). Interacts with ACE2; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in intestine (PubMed:32132184). Interacts with ANPEP; the interaction positively regulates its amino acid transporter activity (By similarity).

    Three dimensional structures from OCA and Proteopedia for SLC6A19 Gene

neXtProt entry for SLC6A19 Gene

Protein Expression for SLC6A19 Gene

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

Post-translational modifications for SLC6A19 Gene

  • Glycosylation at Asn158, Asn182, Asn258, Asn354, and Asn368
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A19 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SLC6A19
  • Boster Bio Antibodies for SLC6A19
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC6A19

No data available for DME Specific Peptides for SLC6A19 Gene

Domains & Families for SLC6A19 Gene

Gene Families for SLC6A19 Gene

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

Protein Domains for SLC6A19 Gene

InterPro:
Blocks:
  • Orphan neurotransmitter transporter signature
ProtoNet:

Suggested Antigen Peptide Sequences for SLC6A19 Gene

GenScript: Design optimal peptide antigens:
  • Transporter (E9PD72_HUMAN)
  • System B(0) neutral amino acid transporter AT1 (S6A19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q695T7

UniProtKB/Swiss-Prot:

S6A19_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily.
genes like me logo Genes that share domains with SLC6A19: view

Function for SLC6A19 Gene

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Molecular function for SLC6A19 Gene

UniProtKB/Swiss-Prot Function:
Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:19185582, PubMed:15286788). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582, PubMed:18424768).

Phenotypes From GWAS Catalog for SLC6A19 Gene

Gene Ontology (GO) - Molecular Function for SLC6A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005515 protein binding IPI 19185582
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015175 neutral amino acid transmembrane transporter activity IEA,IDA 18424768
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC6A19: view
genes like me logo Genes that share phenotypes with SLC6A19: view

Human Phenotype Ontology for SLC6A19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC6A19 Gene

MGI Knock Outs for SLC6A19:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC6A19

CRISPR Products

miRNA for SLC6A19 Gene

miRTarBase miRNAs that target SLC6A19

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A19

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC6A19 Gene

Localization for SLC6A19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A19 Gene

Cell membrane. Multi-pass membrane protein. Apical cell membrane. Multi-pass membrane protein. Note=Colocalizes with ACE2 on the apical membrane of cells lining villi of the jejunum, ileum and on kidney proximal tubules. {ECO:0000269 PubMed:18424768}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC6A19 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC6A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA,IDA 18424768
genes like me logo Genes that share ontologies with SLC6A19: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC6A19 Gene

Pathways & Interactions for SLC6A19 Gene

genes like me logo Genes that share pathways with SLC6A19: view

Gene Ontology (GO) - Biological Process for SLC6A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IEA --
GO:0006810 transport IBA 21873635
GO:0006836 neurotransmitter transport IEA --
GO:0006865 amino acid transport TAS --
GO:0007584 response to nutrient IEA --
genes like me logo Genes that share ontologies with SLC6A19: view

No data available for SIGNOR curated interactions for SLC6A19 Gene

Drugs & Compounds for SLC6A19 Gene

Products:

  1. Drug

(1) Drugs for SLC6A19 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloride ion Experimental Pharma 0

(2) Additional Compounds for SLC6A19 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
 7440-23-5
genes like me logo Genes that share compounds with SLC6A19: view

Transcripts for SLC6A19 Gene

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  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SLC6A19 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A19

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A19 Gene

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

Relevant External Links for SLC6A19 Gene

GeneLoc Exon Structure for
SLC6A19

Expression for SLC6A19 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC6A19 Gene

mRNA expression in normal human tissues for SLC6A19 Gene
mRNA expression by GTEx for SLC6A19 GenemRNA expression by BioGPS for SLC6A19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A19 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x35.0) and Kidney - Cortex (x13.2).

Protein differential expression in normal tissues from HIPED for SLC6A19 Gene

This gene is overexpressed in Urine (57.9) and Fetal gut (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC6A19 Gene



Protein tissue co-expression partners for SLC6A19 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC6A19

SOURCE GeneReport for Unigene cluster for SLC6A19 Gene:

Hs.481478

mRNA Expression by UniProt/SwissProt for SLC6A19 Gene:

Q695T7-S6A19_HUMAN
Tissue specificity: Robust expression in kidney and small intestine, with minimal expression in pancreas (PubMed:18424768, PubMed:15286787). Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung.

Evidence on tissue expression from TISSUES for SLC6A19 Gene

  • Kidney(4.8)
  • Intestine(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • ureter
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SLC6A19: view

Orthologs for SLC6A19 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A19 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SLC6A19 30 31
  • 96.41 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC6A19 30 31
  • 87.22 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SLC6A19 30 31
  • 87.07 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Slc6a19 30
  • 84.2 (n)
Mouse
(Mus musculus)
 Mammalia Slc6a19 30 17 31
  • 83.83 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SLC6A19 31
  • 82 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SLC6A19 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SLC6A19 30 31
  • 71.56 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SLC6A19 31
  • 75 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia slc6a19 30
  • 65.77 (n)
Zebrafish
(Danio rerio)
 Actinopterygii slc6a19a 31
  • 68 (a)
 OneToMany
slc6a19b 30 31
  • 67.32 (n)
 OneToMany
CU856173.1 31
  • 67 (a)
 OneToMany
wufd58f10 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG43066 31
  • 36 (a)
 ManyToMany
CG10804 31
  • 36 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 23 (a)
 OneToMany
Species where no ortholog for SLC6A19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SLC6A19 Gene

ENSEMBL:
Gene Tree for SLC6A19 (if available)
TreeFam:
Gene Tree for SLC6A19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC6A19: view image

Paralogs for SLC6A19 Gene

Paralogs for SLC6A19 Gene

(21) SIMAP similar genes for SLC6A19 Gene using alignment to 3 proteins:

  • S6A19_HUMAN
  • E9PD72_HUMAN
  • L8E8F7_HUMAN
genes like me logo Genes that share paralogs with SLC6A19: view

Variants for SLC6A19 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC6A19 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
638526 Uncertain Significance: Neutral 1 amino acid transport defect 1,221,887(+) G/A MISSENSE_VARIANT
708817 Benign: not provided 1,216,654(+) C/T SYNONYMOUS_VARIANT
709027 Likely Benign: not provided 1,221,736(+) G/A SYNONYMOUS_VARIANT
709389 Likely Benign: not provided 1,213,455(+) C/T INTRON_VARIANT
710959 Benign: not provided 1,208,870(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SLC6A19 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC6A19 Gene

Variant ID Type Subtype PubMed ID
dgv3196e59 CNV duplication 20981092
dgv687n27 CNV gain 19166990
esv2729441 CNV deletion 23290073
esv2729442 CNV deletion 23290073
esv2729443 CNV deletion 23290073
esv2729444 CNV deletion 23290073
esv2729445 CNV deletion 23290073
esv3416495 CNV duplication 20981092
esv3575810 CNV gain 25503493
esv3603797 CNV gain 21293372
esv3894109 CNV gain 25118596
nsv1033961 CNV gain 25217958
nsv1114639 CNV deletion 24896259
nsv1119021 CNV deletion 24896259
nsv1126058 CNV deletion 24896259
nsv1133013 OTHER inversion 24896259
nsv1143305 CNV deletion 24896259
nsv1147234 OTHER inversion 26484159
nsv4678 CNV deletion 18451855
nsv470984 CNV loss 18288195
nsv470986 CNV gain 18288195
nsv509044 CNV insertion 20534489
nsv510895 OTHER complex 20534489
nsv527182 CNV loss 19592680
nsv596629 CNV gain 21841781
nsv596824 CNV loss 21841781
nsv596831 CNV gain 21841781
nsv950627 CNV deletion 24416366

Variation tolerance for SLC6A19 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.44; 77.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC6A19 Gene

Human Gene Mutation Database (HGMD)
SLC6A19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A19 Gene

Disorders for SLC6A19 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SLC6A19 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hartnup disorder
  • hnd
iminoglycinuria
  • iminoglycinuria, digenic
hyperglycinuria
  • glycinuria with or without oxalate urolithiasis
aminoaciduria
pellagra
  • niacin deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S6A19_HUMAN
  • Hartnup disorder (HND) [MIM:234500]: Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria. {ECO:0000269 PubMed:15286787, ECO:0000269 PubMed:15286788, ECO:0000269 PubMed:18424768, ECO:0000269 PubMed:18484095, ECO:0000269 PubMed:19185582}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO:0000269 PubMed:19033659}. Note=The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria.
  • Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. {ECO:0000269 PubMed:19033659}. Note=The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.

Additional Disease Information for SLC6A19

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC6A19: view

No data available for Genatlas for SLC6A19 Gene

Publications for SLC6A19 Gene

  1. Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. (PMID: 19185582) Camargo SM … Verrey F (Gastroenterology 2009) 3 4 23
  2. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. (PMID: 15286788) Seow HF … Rasko JE (Nature genetics 2004) 3 4 23
  3. Structural basis for the recognition of SARS-CoV-2 by full-length human ACE2. (PMID: 32132184) Yan R … Zhou Q (Science (New York, N.Y.) 2020) 3 4
  4. Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. (PMID: 20399395) Cheon CK … Yoo HW (Pediatric neurology 2010) 3 23
  5. Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells. (PMID: 19322909) Mitsuoka K … Tamai I (Biopharmaceutics & drug disposition 2009) 3 23

ExternalLinks

View latest publications for SLC6A19 gene in Mastermind

Products for SLC6A19 Gene

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Sources for SLC6A19 Gene