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] See more...

Aliases for SLC6A16 Gene

Aliases for SLC6A16 Gene

  • Solute Carrier Family 6 Member 16 2 3 4 5
  • Orphan Sodium- And Chloride-Dependent Neurotransmitter Transporter NTT5 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 16 2 3
  • NTT5 3 4
  • Solute Carrier Family 6, Member 16 2
  • NTT5 Protein 2
  • CTC-301O7.4 3
  • NT5 3

External Ids for SLC6A16 Gene

Previous GeneCards Identifiers for SLC6A16 Gene

  • GC00U990833
  • GC19M054484
  • GC19M049792
  • GC19M046169

Summaries for SLC6A16 Gene

Entrez Gene Summary for SLC6A16 Gene

  • 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]

GeneCards Summary for SLC6A16 Gene

SLC6A16 (Solute Carrier Family 6 Member 16) is a Protein Coding gene. Diseases associated with SLC6A16 include Dysgerminoma Of Ovary. Among its related pathways are NRF2 pathway. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and neurotransmitter transporter activity. An important paralog of this gene is SLC6A17.

Additional gene information for SLC6A16 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC6A16 Gene

Genomics for SLC6A16 Gene

GeneHancer (GH) Regulatory Elements for SLC6A16 Gene

Promoters and enhancers for SLC6A16 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J049332 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 500.7 -3.8 -3826 5.4 ZBTB40 SIN3A SP1 EP300 AFF1 REST RELA RCOR1 CTBP1 TRIM22 CD37 NONHSAG026231.2 SLC6A16 DKKL1 CCDC155 ALDH16A1 BCL2L12 FLT3LG IRF3 SNRNP70
GH19J049338 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 -8.4 -8400 3.4 MYC USF1 SP1 TEAD4 ZNF10 EP300 ZIC2 ZBTB10 CLOCK ZNF423 ENSG00000197813 HSALNG0126983 SLC6A16 CCDC155 GRWD1 AKT1S1 PRR12 NUP62 CYTH2 CD37
GH19J049324 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 500.7 +4.2 4188 9.4 ZNF217 CTCF ZSCAN5C USF1 SP1 SIX5 ZNF623 REST MEF2C USF2 SLC6A16 piR-31199-164 CCDC155 DKKL1 PTH2 PTOV1-AS2 CYTH2 PRR12 SNRNP70 ALDH16A1
GH19J049318 Promoter 0.5 EPDnew 500.4 +13.0 12972 0.1 ZNF26 SETDB1 SLC6A16 ADM5 PIH1D1 IRF3 GRWD1 SNORD35A SNORD35B PRR12 piR-50443-204 MIR4324
GH19J049142 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +188.9 188929 1.7 NRF1 SP1 ZBTB5 POLR2A CTBP1 NFYB MXI1 KDM4B ZNF341 SIN3A PPFIA3 C19orf73 LIN7B SNRNP70 NTF4 CGB7 KCNA7 RUVBL2 SLC6A16 CD37
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC6A16 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC6A16

Top Transcription factor binding sites by QIAGEN in the SLC6A16 gene promoter:
  • GCNF
  • HEN1
  • HFH-1
  • Lmo2
  • RP58
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • Zic3

Genomic Locations for SLC6A16 Gene

Genomic Locations for SLC6A16 Gene
chr19:49,289,632-49,331,701
(GRCh38/hg38)
Size:
42,070 bases
Orientation:
Minus strand
chr19:49,792,889-49,828,482
(GRCh37/hg19)
Size:
35,594 bases
Orientation:
Minus strand

Genomic View for SLC6A16 Gene

Genes around SLC6A16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A16 Gene

Proteins for SLC6A16 Gene

  • Protein details for SLC6A16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZN6-S6A16_HUMAN
    Recommended name:
    Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5
    Protein Accession:
    Q9GZN6
    Secondary Accessions:
    • Q8IYV4
    • Q9Y5I9

    Protein attributes for SLC6A16 Gene

    Size:
    736 amino acids
    Molecular mass:
    82200 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC6A16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC6A16 Gene

Post-translational modifications for SLC6A16 Gene

  • Glycosylation at Asn229
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC6A16 Gene

Domains & Families for SLC6A16 Gene

Gene Families for SLC6A16 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC6A16 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC6A16 Gene

GenScript: Design optimal peptide antigens:
  • Transporter (Q8IYV4_HUMAN)
  • Solute carrier family 6 member 16 (S6A16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9GZN6

UniProtKB/Swiss-Prot:

S6A16_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A16 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A16 subfamily.
genes like me logo Genes that share domains with SLC6A16: view

Function for SLC6A16 Gene

Phenotypes From GWAS Catalog for SLC6A16 Gene

Gene Ontology (GO) - Molecular Function for SLC6A16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005326 neurotransmitter transporter activity NAS 11112352
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC6A16: view
genes like me logo Genes that share phenotypes with SLC6A16: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC6A16

CRISPR Products

miRNA for SLC6A16 Gene

miRTarBase miRNAs that target SLC6A16

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC6A16 Gene

Localization for SLC6A16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A16 Gene

Membrane; Multi-pass membrane protein.

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 SLC6A16 gene
Compartment Confidence
plasma membrane 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC6A16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC6A16: view

Pathways & Interactions for SLC6A16 Gene

PathCards logo

SuperPathways for SLC6A16 Gene

SuperPathway Contained pathways
1 NRF2 pathway
genes like me logo Genes that share pathways with SLC6A16: view

Pathways by source for SLC6A16 Gene

1 BioSystems pathway for SLC6A16 Gene

Interacting Proteins for SLC6A16 Gene

;

Gene Ontology (GO) - Biological Process for SLC6A16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006836 neurotransmitter transport IEA,NAS 11112352
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC6A16: view

No data available for SIGNOR curated interactions for SLC6A16 Gene

Drugs & Compounds for SLC6A16 Gene

(1) Additional Compounds for SLC6A16 Gene - From: 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 SLC6A16: view

Transcripts for SLC6A16 Gene

mRNA/cDNA for SLC6A16 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A16 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: - -
SP2: - -
SP3:
SP4: - -

Relevant External Links for SLC6A16 Gene

GeneLoc Exon Structure for
SLC6A16

Expression for SLC6A16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC6A16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A16 Gene

This gene is overexpressed in Testis (x16.1).

Protein differential expression in normal tissues from HIPED for SLC6A16 Gene

This gene is overexpressed in Testis (39.0) and Spleen (30.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC6A16 Gene



Protein tissue co-expression partners for SLC6A16 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC6A16

SOURCE GeneReport for Unigene cluster for SLC6A16 Gene:

Hs.130949

mRNA Expression by UniProt/SwissProt for SLC6A16 Gene:

Q9GZN6-S6A16_HUMAN
Tissue specificity: Highly expressed in peripheral tissues, particularly in testis, pancreas, and prostate.
genes like me logo Genes that share expression patterns with SLC6A16: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A16 Gene

Orthologs for SLC6A16 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A16 31 30
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A16 31 30
  • 77.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC6A16 31 30
  • 75.08 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a16 17 31 30
  • 67.09 (n)
rat
(Rattus norvegicus)
Mammalia Slc6a16 30
  • 67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 49 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SLC6A16 31
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A16 31
  • 36 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SLC6A16 (2 of 2) 31
  • 34 (a)
OneToMany
SLC6A16 (1 of 2) 31
  • 33 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG43066 31
  • 27 (a)
ManyToMany
CG10804 31
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3644 31
  • 33 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Species where no ortholog for SLC6A16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC6A16 Gene

ENSEMBL:
Gene Tree for SLC6A16 (if available)
TreeFam:
Gene Tree for SLC6A16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC6A16: view image

Paralogs for SLC6A16 Gene

(12) SIMAP similar genes for SLC6A16 Gene using alignment to 6 proteins:

  • S6A16_HUMAN
  • M0QYK3_HUMAN
  • M0QZL4_HUMAN
  • M0R1Y6_HUMAN
  • M0R2R5_HUMAN
  • Q8IYV4_HUMAN
genes like me logo Genes that share paralogs with SLC6A16: view

Variants for SLC6A16 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC6A16 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs35860981 - p.Ser108Arg
VAR_064753 - p.Glu236Lys

Additional dbSNP identifiers (rs#s) for SLC6A16 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC6A16 Gene

Variant ID Type Subtype PubMed ID
dgv52n68 CNV loss 17160897
esv2658176 CNV deletion 23128226
esv3348764 CNV insertion 20981092
esv3644620 CNV loss 21293372
esv3644621 CNV loss 21293372
nsv474708 CNV novel sequence insertion 20440878
nsv9739 CNV gain+loss 18304495

Variation tolerance for SLC6A16 Gene

Residual Variation Intolerance Score: 17.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC6A16 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A16 Gene

Disorders for SLC6A16 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC6A16 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dysgerminoma of ovary
  • ovarian dysgerminoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC6A16

genes like me logo Genes that share disorders with SLC6A16: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC6A16 Gene

Publications for SLC6A16 Gene

  1. Cloning and characterization of human NTT5 and v7-3: two orphan transporters of the Na+/Cl- -dependent neurotransmitter transporter gene family. (PMID: 11112352) Farmer MK … Pangalos MN (Genomics 2000) 2 3 4 54
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 54
  3. Neurotransmitter transporters in the central nervous system. (PMID: 10471414) Masson J … El Mestikawy S (Pharmacological reviews 1999) 2 3 54
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  5. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID: 21248752) Varela I … Futreal PA (Nature 2011) 4 54

Products for SLC6A16 Gene

Sources for SLC6A16 Gene