This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hy... See more...

Aliases for SLC29A3 Gene

Aliases for SLC29A3 Gene

  • Solute Carrier Family 29 Member 3 2 3 4 5
  • ENT3 2 3 4
  • Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member 3 2 3
  • Solute Carrier Family 29 (Nucleoside Transporters), Member 3 2 3
  • Equilibrative Nucleoside Transporter 3 3 4
  • FLJ11160 2
  • SLC29A3 5
  • HCLAP 3
  • HENT3 4
  • HJCD 3
  • PHID 3

External Ids for SLC29A3 Gene

Previous GeneCards Identifiers for SLC29A3 Gene

  • GC10P072971
  • GC10P072427
  • GC10P072423
  • GC10P072749
  • GC10P073080
  • GC10P067074

Summaries for SLC29A3 Gene

Entrez Gene Summary for SLC29A3 Gene

  • This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

GeneCards Summary for SLC29A3 Gene

SLC29A3 (Solute Carrier Family 29 Member 3) is a Protein Coding gene. Diseases associated with SLC29A3 include Histiocytosis-Lymphadenopathy Plus Syndrome and Dysosteosclerosis. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Transport of vitamins, nucleosides, and related molecules. Gene Ontology (GO) annotations related to this gene include nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A1.

UniProtKB/Swiss-Prot Summary for SLC29A3 Gene

  • Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine.

Tocris Summary for SLC29A3 Gene

  • Nucleoside transporters are divided into two families: the Na+-dependent solute carrier family 28 (SLC28) and the equilibrative solute carrier family 29 (SLC29). SLC28 family transporters (CNT1, 2 and 3) display subtype-selective tissue expression patterns.

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC29A3 Gene

Genomics for SLC29A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC29A3 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
GH10J071318 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.7 +0.9 948 3.2 HNRNPL CTCF PRDM10 IKZF1 KDM1A ZNF692 RCOR2 BACH1 JUND FOXA1 SLC29A3 SNODB1016 CDH23
GH10J071376 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.2 +59.0 59049 4.3 HNRNPL GATAD2A ZNF629 RFX1 SOX13 IKZF1 CTCF ZNF692 POLR2A BACH1 piR-43740 SLC29A3 DNAJB12 CHST3 lnc-CDH23-1 CDH23
GH10J071382 Enhancer 1.2 Ensembl ENCODE dbSUPER 19.9 +64.2 64248 3 BRCA1 CTCF IKZF1 JUND ZNF143 RELA PATZ1 REST RAD21 IKZF2 piR-41715 SLC29A3 piR-43740 CDH23
GH10J071357 Enhancer 1.1 ENCODE dbSUPER 19 +39.8 39757 2.3 LEF1 IKZF1 ETV6 JUND MTA2 ZNF143 PKNOX1 ZNF24 MTA1 REST RF00017-690 SLC29A3 CDH23 CDH23-AS1 ENSG00000279406 lnc-CDH23-2
GH10J071258 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -51.6 -51552 17.8 GATAD2A CTCF PRDM10 ZNF629 KDM1A ZNF692 ETV6 JUND FOXA1 PRDM1 UNC5B UNC5B-AS1 SLC29A3 CDH23-AS1 CDH23 PCBD1 piR-41736 LOC112268061
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC29A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC29A3

Top Transcription factor binding sites by QIAGEN in the SLC29A3 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun

Genomic Locations for SLC29A3 Gene

Genomic Locations for SLC29A3 Gene
chr10:71,319,253-71,381,423
(GRCh38/hg38)
Size:
62,171 bases
Orientation:
Plus strand
chr10:73,079,010-73,123,147
(GRCh37/hg19)
Size:
44,138 bases
Orientation:
Plus strand

Genomic View for SLC29A3 Gene

Genes around SLC29A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC29A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC29A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC29A3 Gene

Proteins for SLC29A3 Gene

  • Protein details for SLC29A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZD2-S29A3_HUMAN
    Recommended name:
    Equilibrative nucleoside transporter 3
    Protein Accession:
    Q9BZD2
    Secondary Accessions:
    • B2RB50
    • B4E2Z9
    • B7ZA37
    • Q0VAM9
    • Q5T465
    • Q7RTT8
    • Q8IVZ0
    • Q9BWI2
    • Q9NUS9

    Protein attributes for SLC29A3 Gene

    Size:
    475 amino acids
    Molecular mass:
    51815 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92041.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC29A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC29A3 Gene

Post-translational modifications for SLC29A3 Gene

  • Glycosylation at Asn84
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC29A3 Gene

Domains & Families for SLC29A3 Gene

Gene Families for SLC29A3 Gene

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

Protein Domains for SLC29A3 Gene

InterPro:
Blocks:
  • Delayed-early response protein/equilibrative nucleoside transporter signature
ProtoNet:

Suggested Antigen Peptide Sequences for SLC29A3 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 29 member 3 (S29A3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZD2

UniProtKB/Swiss-Prot:

S29A3_HUMAN :
  • Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
Family:
  • Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
genes like me logo Genes that share domains with SLC29A3: view

Function for SLC29A3 Gene

Molecular function for SLC29A3 Gene

UniProtKB/Swiss-Prot Function:
Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.86 mM for adenosine {ECO:0000269|PubMed:15701636}; KM=2.02 mM for uridine {ECO:0000269|PubMed:15701636}; pH dependence: Optimum pH is 5.5 for adenosine uptake. {ECO:0000269|PubMed:15701636};

Phenotypes From GWAS Catalog for SLC29A3 Gene

Gene Ontology (GO) - Molecular Function for SLC29A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005337 nucleoside transmembrane transporter activity IEA,TAS --
GO:0005515 protein binding IPI 25910212
genes like me logo Genes that share ontologies with SLC29A3: view
genes like me logo Genes that share phenotypes with SLC29A3: view

Human Phenotype Ontology for SLC29A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC29A3 Gene

MGI Knock Outs for SLC29A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC29A3

CRISPR Products

miRNA for SLC29A3 Gene

miRTarBase miRNAs that target SLC29A3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC29A3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC29A3 Gene

Localization for SLC29A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC29A3 Gene

Membrane. Multi-pass membrane protein. Late endosome membrane. Lysosome membrane. Note=Observed in a punctate intracellular pattern showing partial colocalization with late endosomes/lysosomes. Not detected at the cell surface.

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 SLC29A3 gene
Compartment Confidence
endosome 5
lysosome 5
plasma membrane 4
golgi apparatus 4
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC29A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,TAS --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IBA,IDA --
GO:0005886 plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with SLC29A3: view

Pathways & Interactions for SLC29A3 Gene

genes like me logo Genes that share pathways with SLC29A3: view

Gene Ontology (GO) - Biological Process for SLC29A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015858 nucleoside transport IEA --
GO:1901642 nucleoside transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC29A3: view

No data available for SIGNOR curated interactions for SLC29A3 Gene

Drugs & Compounds for SLC29A3 Gene

(5) Drugs for SLC29A3 Gene - From: PharmGKB, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2451
Adenine Approved Nutra 0
Dipyridamole Approved Pharma Inhibitor, Inhibition Adenosine transport inhibitor 93
Dilazep dihydrochloride Pharma Adenosine uptake inhibitor 0
NBMPR Pharma Equilibrative nucleoside transporter 1 (ENT1) inhibitor 0

(1) Additional Compounds for SLC29A3 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8MDP
29491-75-6

(4) Tocris Compounds for SLC29A3 Gene

Compound Action Cas Number
8MDP Potent equilibrative nucleoside transporter (ENT) inhibitor 29491-75-6
Dilazep dihydrochloride Adenosine uptake inhibitor 20153-98-4
Dipyridamole Adenosine transport inhibitor 58-32-2
NBMPR Equilibrative nucleoside transporter 1 (ENT1) inhibitor 38048-32-7
genes like me logo Genes that share compounds with SLC29A3: view

Transcripts for SLC29A3 Gene

mRNA/cDNA for SLC29A3 Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 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 SLC29A3

Alternative Splicing Database (ASD) splice patterns (SP) for SLC29A3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1: -
SP2:
SP3: - -
SP4: - - - -
SP5:
SP6: -

Relevant External Links for SLC29A3 Gene

GeneLoc Exon Structure for
SLC29A3

Expression for SLC29A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC29A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC29A3 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC29A3 Gene



Protein tissue co-expression partners for SLC29A3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC29A3

SOURCE GeneReport for Unigene cluster for SLC29A3 Gene:

Hs.438419

mRNA Expression by UniProt/SwissProt for SLC29A3 Gene:

Q9BZD2-S29A3_HUMAN
Tissue specificity: Widely expressed in both adult and fetal tissues. Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow. Lowest levels in brain and heart.

Evidence on tissue expression from TISSUES for SLC29A3 Gene

  • Kidney(4.4)
  • Intestine(4.3)
  • Skin(4.3)
  • Eye(4.2)
  • Nervous system(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC29A3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • sinus
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • liver
  • pancreas
  • spleen
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SLC29A3: view

No data available for mRNA differential expression in normal tissues for SLC29A3 Gene

Orthologs for SLC29A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC29A3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC29A3 30 31
  • 98.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC29A3 30 31
  • 83.54 (n)
OneToMany
-- 31
  • 81 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia SLC29A3 30 31
  • 82.73 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc29a3 30 17 31
  • 78.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc29a3 30
  • 76.63 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC29A3 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC29A3 30 31
  • 69.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC29A3 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc29a3 30
  • 59.32 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101887173 30
  • 61.83 (n)
slc29a3 31
  • 55 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Ent1 31
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ent-1 31
  • 26 (a)
ManyToMany
Species where no ortholog for SLC29A3 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 Squirt (Ciona savignyi)
  • 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)

Evolution for SLC29A3 Gene

ENSEMBL:
Gene Tree for SLC29A3 (if available)
TreeFam:
Gene Tree for SLC29A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC29A3: view image

Paralogs for SLC29A3 Gene

Paralogs for SLC29A3 Gene

(2) SIMAP similar genes for SLC29A3 Gene using alignment to 1 proteins:

  • S29A3_HUMAN
genes like me logo Genes that share paralogs with SLC29A3: view

Variants for SLC29A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC29A3 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
300363 Conflicting Interpretations: Histiocytosis-lymphadenopathy plus syndrome 71,356,184(+) TG/CA MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
636986 Pathogenic: Histiocytosis-lymphadenopathy plus syndrome; not provided 71,322,994(+) CA/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
646281 Uncertain Significance: Histiocytosis-lymphadenopathy plus syndrome 71,356,240(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
651684 Uncertain Significance: Histiocytosis-lymphadenopathy plus syndrome; not provided 71,361,980(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
652332 Uncertain Significance: Histiocytosis-lymphadenopathy plus syndrome 71,356,099(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for SLC29A3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC29A3 Gene

Variant ID Type Subtype PubMed ID
nsv1044971 CNV gain 25217958
nsv467371 CNV gain 19166990
nsv551500 CNV gain 21841781

Variation tolerance for SLC29A3 Gene

Residual Variation Intolerance Score: 90.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.55; 98.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC29A3 Gene

Human Gene Mutation Database (HGMD)
SLC29A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC29A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC29A3 Gene

Disorders for SLC29A3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLC29A3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
histiocytosis-lymphadenopathy plus syndrome
  • histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness
dysosteosclerosis
histiocytosis
  • chronic histiocytosis x
hypertrichosis
polyclonal hypergammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S29A3_HUMAN
  • Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]: A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome. {ECO:0000269 PubMed:18940313, ECO:0000269 PubMed:19336477, ECO:0000269 PubMed:19889517, ECO:0000269 PubMed:20140240, ECO:0000269 PubMed:20199539, ECO:0000269 PubMed:20399510, ECO:0000269 PubMed:20595384, ECO:0000269 PubMed:20619369, ECO:0000269 PubMed:21888995}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC29A3

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 SLC29A3: view

No data available for Genatlas for SLC29A3 Gene

Publications for SLC29A3 Gene

  1. The H syndrome is caused by mutations in the nucleoside transporter hENT3. (PMID: 18940313) Molho-Pessach V … Zlotogorski A (American journal of human genetics 2008) 3 4 23
  2. The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms. (PMID: 11396612) Hyde RJ … Baldwin SA (Molecular membrane biology 2001) 2 3 4
  3. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. (PMID: 20140240) Morgan NV … Maher ER (PLoS genetics 2010) 3 4
  4. H syndrome: novel and recurrent mutations in SLC29A3. (PMID: 20199539) Priya TP … Zlotogorski A (The British journal of dermatology 2010) 3 4
  5. The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. (PMID: 19889517) Molho-Pessach V … Zlotogorski A (Journal of dermatological science 2010) 3 4

Products for SLC29A3 Gene

Sources for SLC29A3 Gene