Gene Gene information from NCBI Gene database.
Entrez ID 222962
Gene name Solute carrier family 29 member 4
Gene symbol SLC29A4
Synonyms (NCBI Gene)
ENT4PMAT
Chromosome 7
Chromosome location 7p22.1
Summary This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been sho
miRNA miRNA information provided by mirtarbase database.
174
miRTarBase ID miRNA Experiments Reference
MIRT030404 hsa-miR-24-3p Microarray 19748357
MIRT670167 hsa-miR-1321 HITS-CLIP 23824327
MIRT670166 hsa-miR-4739 HITS-CLIP 23824327
MIRT670165 hsa-miR-4756-5p HITS-CLIP 23824327
MIRT670164 hsa-miR-383-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
GO ID Ontology Definition Evidence Reference
GO:0001692 Process Histamine metabolic process TAS 23505051
GO:0005326 Function Neurotransmitter transmembrane transporter activity IDA 15448143, 17018840, 17121826, 20592246, 20858707, 22396231
GO:0005326 Function Neurotransmitter transmembrane transporter activity IEA
GO:0005326 Function Neurotransmitter transmembrane transporter activity IMP 23505051
GO:0005326 Function Neurotransmitter transmembrane transporter activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609149 23097 ENSG00000164638
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7RTT9
Protein name Equilibrative nucleoside transporter 4 (hENT4) (Plasma membrane monoamine transporter) (PMAT) (Solute carrier family 29 member 4)
Protein function Electrogenic voltage-dependent transporter that mediates the transport of a variety of endogenous bioactive amines, cationic xenobiotics and drugs (PubMed:15448143, PubMed:16099839, PubMed:16873718, PubMed:17018840, PubMed:17121826, PubMed:20592
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01733 Nucleoside_tran 170 506 Nucleoside transporter Family
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in brain and skeletal muscle (PubMed:15448143, PubMed:16873718, PubMed:20592246, PubMed:20858707). In brain, expressed in cerebellum, cerebral cortex, medulla oblongata, occipital pole, frontal and temporal lobes putam
Sequence
Sequence length 530
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Desmoplastic Small Round Cell Tumor Desmoplastic Tumor BEFREE 18523561
★☆☆☆☆
Found in Text Mining only
Desmoplastic Small Round Cell Tumor Desmoplastic small round cell tumor Pubtator 18523561 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 30885951
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 30357508
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 37541765 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 17711502
★☆☆☆☆
Found in Text Mining only