• Gene id: 3177

Gene Summary

• Gene Symbol: SLC29A2   Gene   UCSC   Ensembl
• Aliases: DER12, ENT2, HNP36
• Gene name: solute carrier family 29 member 2
• Alternate names: equilibrative nucleoside transporter 2, 36 kDa nucleolar protein HNP36, delayed-early response protein 12, equilibrative NBMPR-insensitive nucleoside transporter, equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter, hydrophobic ,
• Gene location: 11q13.2 (66372475: 66362520)     Exons: 8     NC_000011.10
• Gene summary(Entrez): The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic proces
• OMIM: 602110

SNPs

rs36065902

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.41841870A>T
NW_003571052.1   g.128512A>T
NG_051246.1   g.11186A>T
NM_152467.5   c.242A>T
NM_152467.4   c.242A>T
NM_152467.3   c.242A>T
NM_001329596.2   c.-23A>T
NM_001329596.1   c.-23A>T
NM_001329595.1   c.242A>T
NC_000017.10   g.39998122A>T
NP_689680.2  

rs61752339

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.41845328T>C
NW_003571052.1   g.131970T>C
NG_051246.1   g.14644T>C
NM_152467.5   c.887T>C
NM_152467.4   c.887T>C
NM_152467.3   c.887T>C
NM_001329596.2   c.623T>C
NM_001329596.1   c.623T>C
NM_001329595.1   c.887T>C
NC_000017.10   g.40001580T>C
NP_689680.2  

Protein Summary

• Protein general information: Q14542  
  • Name: Equilibrative nucleoside transporter 2 (36 kDa nucleolar protein HNP36) (Delayed early response protein 12) (Equilibrative nitrobenzylmercaptopurine riboside insensitive nucleoside transporter) (Equilibrative NBMPR insensitive nucleoside transporter) (Hyd
  • Length: 456  
  • Mass: 50113
  • Tissue specificity: Expressed in skeletal muscle, liver, lung, placenta, brain, heart, kidney and ovarian tissues. {ECO
• Sequence:

  MARGDAPRDSYHLVGISFFILGLGTLLPWNFFITAIPYFQARLAGAGNSTARILSTNHTGPEDAFNFNNWVTLLS
  QLPLLLFTLLNSFLYQCVPETVRILGSLLAILLLFALTAALVKVDMSPGPFFSITMASVCFINSFSAVLQGSLFG
  QLGTMPSTYSTLFLSGQGLAGIFAALAMLLSMASGVDAETSALGYFITPCVGILMSIVCYLSLPHLKFARYYLAN
  KSSQAQAQELETKAELLQSDENGIPSSPQKVALTLDLDLEKEPESEPDEPQKPGKPSVFTVFQKIWLTALCLVLV
  FTVTLSVFPAITAMVTSSTSPGKWSQFFNPICCFLLFNIMDWLGRSLTSYFLWPDEDSRLLPLLVCLRFLFVPLF
  MLCHVPQRSRLPILFPQDAYFITFMLLFAVSNGYLVSLTMCLAPRQVLPHEREVAGALMTFFLALGLSCGASLSF
  LFKALL

• Structural information:
  • Interpro: IPR034764  IPR030197  IPR002259  IPR036259  
  • STRING: ENSP00000350024
• Other Databases: GeneCards:  SLC29A2  Malacards:  SLC29A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006836	neurotransmitter transport	IDA	biological process
GO:1901642	nucleoside transmembrane transport	IDA	biological process
GO:0005326	neurotransmitter transmembrane transporter activity	IDA	molecular function
GO:0015211	purine nucleoside transmembrane transporter activity	IDA	molecular function
GO:0015213	uridine transmembrane transporter activity	IDA	molecular function
GO:0005326	neurotransmitter transmembrane transporter activity	ISS	molecular function
GO:0015860	purine nucleoside transmembrane transport	IDA	biological process
GO:0015862	uridine transport	IDA	biological process
GO:0072531	pyrimidine-containing compound transmembrane transport	IDA	biological process
GO:0032238	adenosine transport	IDA	biological process
GO:0015211	purine nucleoside transmembrane transporter activity	ISS	molecular function
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0015860	purine nucleoside transmembrane transport	ISS	biological process
GO:0032238	adenosine transport	ISS	biological process
GO:0001504	neurotransmitter uptake	ISS	biological process
GO:0035344	hypoxanthine transport	IBA	biological process
GO:0016323	basolateral plasma membrane	IBA	cellular component
GO:0015862	uridine transport	IBA	biological process
GO:0035364	thymine transport	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0015854	guanine transport	IBA	biological process
GO:0015853	adenine transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005337	nucleoside transmembrane transporter activity	IBA	molecular function
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0015858	nucleoside transport	IDA	biological process
GO:0015858	nucleoside transport	IEA	biological process
GO:1901642	nucleoside transmembrane transport	IEA	biological process
GO:0005337	nucleoside transmembrane transporter activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005730	nucleolus	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015858	nucleoside transport	IEA	biological process
GO:0005337	nucleoside transmembrane transporter activity	IEA	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0098810	neurotransmitter reuptake	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881