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SLC38A8 Gene

protein-coding   GIFtS: 40
GCID: GC16M084043

Solute Carrier Family 38, Member 8

  See SLC38A8-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 38, Member 81 2
Solute Carrier Family 38 Member 82 3
Putative Sodium-Coupled Neutral Amino Acid Transporter 82
FVH25

External Ids:    HGNC: 324341   Entrez Gene: 1461672   Ensembl: ENSG000001665587   OMIM: 6155855   UniProtKB: A6NNN83   

Export aliases for SLC38A8 gene to outside databases

Previous GC identifers: GC16M082601 GC16M069797


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC38A8 Gene:
SLC38A8 (solute carrier family 38, member 8) is a protein-coding gene. Diseases associated with SLC38A8 include foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, and foveal hypoplasia. An important paralog of this gene is SLC38A7.

UniProtKB/Swiss-Prot: S38A8_HUMAN, A6NNN8
Function: Putative sodium-dependent amino acid/proton antiporter (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC38A8 gene promoter:
         AML1a   Pax-5   Olf-1   AP-4   GATA-1   E47   HNF-1A   HEN1   HNF-1   Hand1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC38A8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q23.3   Ensembl cytogenetic band:  16q23.3   HGNC cytogenetic band: 16q23.3

SLC38A8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC38A8 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M084043:  view genomic region     (about GC identifiers)

Start:
84,043,272 bp from pter      End:
84,076,241 bp from pter
Size:
32,970 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: S38A8_HUMAN, A6NNN8 (See protein sequence)
Recommended Name: Putative sodium-coupled neutral amino acid transporter 8  
Size: 435 amino acids; 46731 Da

Explore the universe of human proteins at neXtProt for SLC38A8: NX_A6NNN8

Explore proteomics data for SLC38A8 at MOPED


See SLC38A8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001073911.1  
ENSEMBL proteins: 
 ENSP00000299709   ENSP00000457737   ENSP00000455085  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
SLC: Solute carriers

IUPHAR Guide to PHARMACOLOGY protein family classification: SLC38A8
Orphan SLC38 transporters

1 InterPro protein domain:
 IPR013057 AA_transpt_TM

Graphical View of Domain Structure for InterPro Entry A6NNN8

ProtoNet protein and cluster: A6NNN8

UniProtKB/Swiss-Prot: S38A8_HUMAN, A6NNN8
Similarity: Belongs to the amino acid/polyamine transporter 2 family


Find genes that share domains with SLC38A8           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: S38A8_HUMAN, A6NNN8
Function: Putative sodium-dependent amino acid/proton antiporter (By similarity)

Animal Models:

   genOway: Develop your customized and physiologically relevant rodent model for SLC38A8

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
S38A8_HUMAN, A6NNN8: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Interactions:

    Search GeneGlobe Interaction Network for SLC38A8

Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003333amino acid transmembrane transport ----
GO:0006814sodium ion transport IEA--
GO:0006865amino acid transport IEA--

Find genes that share ontologies with SLC38A8           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for SLC38A8 (S38A8)

1 HMDB Compound for SLC38A8    About this table
CompoundSynonyms CAS #PubMed Ids
SodiumSodium (see all 2)7440-23-5--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for SLC38A8 gene: 
NM_001080442.1  

Unigene Cluster for SLC38A8:

Solute carrier family 38, member 8
Hs.461575  [show with all ESTs]
Unigene Representative Sequence: NM_001080442
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000568003 ENST00000299709(uc002fhg.1) ENST00000568178 ENST00000569816

miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat SLC38A8

1 DOTS entry:

DT.91860771 

1 AceView cDNA sequence:

BF516149 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SLC38A8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCGCTGTTTA
SLC38A8 Expression
About this image

SLC38A8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SLC38A8 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.461575
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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC38A8 gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Slc38a81 , 5 solute carrier family 38, member 81, 5 83.29(n)1
82.6(a)1
  8 (67.80 cM)5
2347881  NM_001009950.11  NP_001009950.11 
 1194796025 
chicken
(Gallus gallus)
Aves SLC38A81 solute carrier family 38, member 8 69.03(n)
65.04(a)
  100857309  XM_003641908.2  XP_003641956.1 
lizard
(Anolis carolinensis)
Reptilia SLC38A86
solute carrier family 38, member 8
57(a)
1 ↔ 1
5(108324051-108333514)
African clawed frog
(Xenopus laevis)
Amphibia Xl.77472 Xenopus laevis transcribed sequence with weak similarity more 71.77(n)    48014685 
zebrafish
(Danio rerio)
Actinopterygii Dr.182302 Transcribed sequence with weak similarity to protein more 76.56(n)    BQ132767.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT66
AVT76
(see all 3)
Vacuolar aspartate and glutamate exporter; member ...
Putative transporter, member of a family of seven ...
(see all 3)
17(a)
17(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
V(399496-400842) YER119C
IX(197931-199403) YIL088C


ENSEMBL Gene Tree for SLC38A8 (if available)
TreeFam Gene Tree for SLC38A8 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SLC38A8 gene
SLC38A72  
1 SIMAP similar gene for SLC38A8 using alignment to 3 protein entries:     S38A8_HUMAN (see all proteins):
SLC38A7

Find genes that share paralogs with SLC38A8           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SLC38A8 (see all 1820)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1907349531,2
--84042903(+) GAGCTC/TACTTA 1 -- ds50010--------
rs1471106171,2
--84042915(+) TGATGA/GGTATC 1 -- ds50010--------
rs1385721421,2
--84042928(+) TTTAAC/GAGAGA 1 -- ds50010--------
rs1433903911,2
--84042932(+) AGAGAC/GAGATT 1 -- ds50010--------
rs1177784181,2
C,F--84042946(+) ACACAG/CAGGAT 1 -- ds50011Minor allele frequency- C:0.03EA 120
rs744958161,2
C--84042949(+) CAGAGG/AATACA 1 -- ds50012Minor allele frequency- A:0.03CSA NA 122
rs1149890621,2
C,F--84042981(+) CAAGAG/ACAGAC 1 -- ds50011Minor allele frequency- A:0.03WA 118
rs763576421,2
C,F--84042988(+) AGACAC/GTGGAG 1 -- ds50011Minor allele frequency- G:0.04EA 120
rs1482668941,2
--84043051(+) GGAGG-/GAGCCTC 1 -- ds50010--------
rs1457775771,2
--84043076(+) AGAGGA/GAGCAT 1 -- ds50010--------

HapMap Linkage Disequilibrium report for SLC38A8 (84043272 - 84076241 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for SLC38A8 (see all 15):    About this table    
Variant IDTypeSubtypePubMed ID
esv2657139CNV Deletion23128226
nsv1909CNV Loss18451855
esv27048CNV Loss19812545
nsv528396CNV Loss19592680
dgv2928n71CNV Loss21882294
dgv2931n71CNV Loss21882294
nsv527489CNV Loss19592680
nsv907040CNV Loss21882294
dgv2929n71CNV Gain21882294
nsv471106CNV Gain18288195

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 615585   
OMIM disorders: 609218  
2 diseases for SLC38A8:    
About MalaCards
foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis    foveal hypoplasia


Find genes that share disorders with SLC38A8           About GenesLikeMe

Genetic Association Database (GAD): SLC38A8
Human Genome Epidemiology (HuGE) Navigator: SLC38A8 (1 document)

Export disorders for SLC38A8 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for SLC38A8 gene integrated from 10 sources:
(articles sorted by number of sources associating them with SLC38A8)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  2. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. (PubMed id 24290379)1 Poulter J.A....Toomes C. (Am. J. Hum. Genet. 2013)
  3. Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease. (PubMed id 23213074)1 Adams L.A....Pennell C.E. (Hepatology 2013)
  4. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
  5. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 146167 HGNC: 32434 AceView: LOC146167 Ensembl:ENSG00000166558 euGenes: HUgn146167
ECgene: SLC38A8 H-InvDB: SLC38A8

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for SLC38A8 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for SLC38A8 gene:
Search GeneIP for patents involving SLC38A8

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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