SLC29A2 (solute carrier family 29 member 2) - Rat Genome Database

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Gene: SLC29A2 (solute carrier family 29 member 2) Homo sapiens
Analyze
Symbol: SLC29A2
Name: solute carrier family 29 member 2
RGD ID: 733577
HGNC Page HGNC
Description: Enables neurotransmitter transmembrane transporter activity; purine nucleoside transmembrane transporter activity; and uridine transmembrane transporter activity. Involved in neurotransmitter reuptake; nucleoside transport; and pyrimidine-containing compound transmembrane transport. Located in basolateral plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 36 kDa nucleolar protein HNP36; delayed-early response protein 12; DER12; ENT2; equilibrative NBMPR-insensitive nucleoside transporter; equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter; equilibrative nucleoside transporter 2; HNP36; hydrophobic nucleolar protein, 36 kDa; hydrophobic nucleolar protein, 36kD; nucleoside transporter, ei-type; solute carrier family 29 (equilibrative nucleoside transporter), member 2; solute carrier family 29 (nucleoside transporters), member 2; solute carrier family 29, member 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1166,362,521 - 66,372,214 (-)EnsemblGRCh38hg38GRCh38
GRCh381166,362,521 - 66,372,476 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371166,129,992 - 66,139,917 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361165,886,568 - 65,895,867 (-)NCBINCBI36hg18NCBI36
Build 341165,886,568 - 65,895,867NCBI
Celera1163,450,188 - 63,459,489 (-)NCBI
Cytogenetic Map11q13.2NCBI
HuRef1162,455,124 - 62,464,427 (-)NCBIHuRef
CHM1_11166,014,064 - 66,023,360 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7639753   PMID:8889548   PMID:9192854   PMID:9396714   PMID:9478986   PMID:12006583   PMID:12411296   PMID:12477932   PMID:12527552   PMID:12590919   PMID:12820662   PMID:12838422  
PMID:14612157   PMID:14702039   PMID:15386342   PMID:15489334   PMID:15644498   PMID:15649894   PMID:16214850   PMID:16344560   PMID:16924660   PMID:17921321   PMID:17926640   PMID:18635603  
PMID:18703227   PMID:18945750   PMID:19105964   PMID:19297449   PMID:20392501   PMID:21156465   PMID:21516116   PMID:21822668   PMID:21873635   PMID:21926972   PMID:23590299   PMID:23639800  
PMID:25416956   PMID:26439863   PMID:26590417   PMID:27160886   PMID:27271752   PMID:28218790   PMID:30280653   PMID:30639242   PMID:31601121   PMID:32296183   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
SLC29A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1166,362,521 - 66,372,214 (-)EnsemblGRCh38hg38GRCh38
GRCh381166,362,521 - 66,372,476 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371166,129,992 - 66,139,917 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361165,886,568 - 65,895,867 (-)NCBINCBI36hg18NCBI36
Build 341165,886,568 - 65,895,867NCBI
Celera1163,450,188 - 63,459,489 (-)NCBI
Cytogenetic Map11q13.2NCBI
HuRef1162,455,124 - 62,464,427 (-)NCBIHuRef
CHM1_11166,014,064 - 66,023,360 (-)NCBICHM1_1
Slc29a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39195,069,085 - 5,082,000 (+)NCBIGRCm39mm39
GRCm39 Ensembl195,073,888 - 5,082,000 (+)Ensembl
GRCm38195,019,057 - 5,031,972 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl195,023,860 - 5,031,972 (+)EnsemblGRCm38mm10GRCm38
MGSCv37195,024,006 - 5,031,972 (+)NCBIGRCm37mm9NCBIm37
MGSCv36195,026,106 - 5,031,964 (+)NCBImm8
Celera194,893,059 - 4,901,072 (+)NCBICelera
Cytogenetic Map19ANCBI
Slc29a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21202,327,641 - 202,335,185 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1202,327,354 - 202,335,171 (+)Ensembl
Rnor_6.01220,306,622 - 220,314,631 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1220,307,394 - 220,314,035 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1220,400,855 - 220,407,189 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01227,331,721 - 227,338,965 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41207,643,719 - 207,650,360 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11207,797,171 - 207,803,813 (+)NCBI
Celera1199,867,900 - 199,874,541 (+)NCBICelera
Cytogenetic Map1q43NCBI
Slc29a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542218,960,862 - 18,972,676 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542218,960,862 - 18,970,312 (+)NCBIChiLan1.0ChiLan1.0
SLC29A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11165,054,041 - 65,063,540 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1165,054,041 - 65,063,540 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01161,728,204 - 61,738,174 (-)NCBIMhudiblu_PPA_v0panPan3
SLC29A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11850,946,647 - 50,955,085 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1850,946,724 - 50,954,413 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1849,554,785 - 49,563,787 (+)NCBI
ROS_Cfam_1.01851,984,637 - 51,993,644 (+)NCBI
UMICH_Zoey_3.11851,084,763 - 51,093,767 (+)NCBI
UNSW_CanFamBas_1.01850,658,971 - 50,667,975 (+)NCBI
UU_Cfam_GSD_1.01851,449,100 - 51,458,103 (+)NCBI
Slc29a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049476,768,715 - 6,777,839 (+)NCBI
SpeTri2.0NW_0049365993,210,463 - 3,221,012 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC29A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl26,027,116 - 6,036,280 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.126,027,287 - 6,036,280 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.225,104,005 - 5,112,831 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC29A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.117,904,813 - 7,914,344 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl17,905,297 - 7,917,309 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038105,186,364 - 105,195,979 (+)NCBIVero_WHO_p1.0
Slc29a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476720,011,147 - 20,020,895 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH79174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,130,138 - 66,130,289UniSTSGRCh37
Build 361165,886,714 - 65,886,865RGDNCBI36
Celera1163,450,334 - 63,450,485RGD
Cytogenetic Map11q13UniSTS
HuRef1162,455,270 - 62,455,421UniSTS
GeneMap99-GB4 RH Map11249.86UniSTS
NCBI RH Map11573.2UniSTS
STS-X86681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,130,463 - 66,130,689UniSTSGRCh37
Build 361165,887,039 - 65,887,265RGDNCBI36
Celera1163,450,659 - 63,450,885RGD
Cytogenetic Map11q13UniSTS
HuRef1162,455,595 - 62,455,821UniSTS
GeneMap99-GB4 RH Map11242.84UniSTS
NCBI RH Map11573.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3809
Count of miRNA genes:593
Interacting mature miRNAs:663
Transcripts:ENST00000311161, ENST00000357440, ENST00000540386, ENST00000541567, ENST00000544554, ENST00000546034
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 884 734 1062 251 742 105 1558 1160 1261 179 592 1246 157 524 923 3
Low 1549 2154 653 370 1098 356 2796 1022 2447 233 858 360 16 680 1865 2 2
Below cutoff 1 101 10 3 101 4 1 12 17 5 5 6 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001300868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_125343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF029358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF034102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF401235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB243770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB124589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB155519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X86681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311161   ⟹   ENSP00000311250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,362,521 - 66,372,099 (-)Ensembl
RefSeq Acc Id: ENST00000357440   ⟹   ENSP00000350024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,362,521 - 66,371,760 (-)Ensembl
RefSeq Acc Id: ENST00000540386   ⟹   ENSP00000444870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,362,522 - 66,371,820 (-)Ensembl
RefSeq Acc Id: ENST00000541567   ⟹   ENSP00000442116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,362,523 - 66,371,647 (-)Ensembl
RefSeq Acc Id: ENST00000544554   ⟹   ENSP00000439456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,362,522 - 66,372,174 (-)Ensembl
RefSeq Acc Id: ENST00000546034   ⟹   ENSP00000440329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,362,523 - 66,372,214 (-)Ensembl
RefSeq Acc Id: ENST00000619145   ⟹   ENSP00000481944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,362,522 - 66,371,820 (-)Ensembl
RefSeq Acc Id: NM_001300868   ⟹   NP_001287797
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,372,446 (-)NCBI
CHM1_11166,014,064 - 66,024,016 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001300869   ⟹   NP_001287798
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,372,446 (-)NCBI
CHM1_11166,014,064 - 66,024,016 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001532   ⟹   NP_001523
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,371,760 (-)NCBI
GRCh371166,129,992 - 66,139,961 (-)NCBI
Build 361165,886,568 - 65,895,867 (-)NCBI Archive
HuRef1162,455,124 - 62,464,427 (-)ENTREZGENE
CHM1_11166,014,064 - 66,023,360 (-)NCBI
Sequence:
RefSeq Acc Id: NR_125343
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,371,760 (-)NCBI
CHM1_11166,014,064 - 66,023,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544974   ⟹   XP_011543276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,372,461 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017632   ⟹   XP_016873121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,372,461 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017633   ⟹   XP_016873122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,365,173 - 66,372,441 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017636   ⟹   XP_016873125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,365,173 - 66,372,441 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017638   ⟹   XP_016873127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,369,461 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448461   ⟹   XP_024304229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,363,953 - 66,372,441 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448462   ⟹   XP_024304230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,372,476 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448463   ⟹   XP_024304231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,363,953 - 66,372,441 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448464   ⟹   XP_024304232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,372,441 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448465   ⟹   XP_024304233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,372,461 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001747842
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,372,461 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001747844
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,362,521 - 66,372,441 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001747845
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,364,405 - 66,372,441 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001523   ⟸   NM_001532
- Peptide Label: isoform a
- UniProtKB: Q14542 (UniProtKB/Swiss-Prot),   Q96FB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287798   ⟸   NM_001300869
- Peptide Label: isoform b
- UniProtKB: G5E943 (UniProtKB/TrEMBL),   Q96FB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287797   ⟸   NM_001300868
- Peptide Label: isoform a
- UniProtKB: Q14542 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543276   ⟸   XM_011544974
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016873121   ⟸   XM_017017632
- Peptide Label: isoform X3
- UniProtKB: Q14542 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016873127   ⟸   XM_017017638
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016873122   ⟸   XM_017017633
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016873125   ⟸   XM_017017636
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_024304230   ⟸   XM_024448462
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024304233   ⟸   XM_024448465
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024304232   ⟸   XM_024448464
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024304231   ⟸   XM_024448463
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024304229   ⟸   XM_024448461
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000442116   ⟸   ENST00000541567
RefSeq Acc Id: ENSP00000439456   ⟸   ENST00000544554
RefSeq Acc Id: ENSP00000440329   ⟸   ENST00000546034
RefSeq Acc Id: ENSP00000311250   ⟸   ENST00000311161
RefSeq Acc Id: ENSP00000481944   ⟸   ENST00000619145
RefSeq Acc Id: ENSP00000350024   ⟸   ENST00000357440
RefSeq Acc Id: ENSP00000444870   ⟸   ENST00000540386

Promoters
RGD ID:6789375
Promoter ID:HG_KWN:13401
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC001OHS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361165,893,181 - 65,893,681 (-)MPROMDB
RGD ID:6789400
Promoter ID:HG_KWN:13402
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000311161,   NM_001532,   UC001OHU.1,   UC001OHV.1,   UC009YRF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361165,895,691 - 65,897,132 (-)MPROMDB
RGD ID:7221141
Promoter ID:EPDNEW_H16316
Type:initiation region
Name:SLC29A2_3
Description:solute carrier family 29 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16317  EPDNEW_H16318  EPDNEW_H16319  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,371,618 - 66,371,678EPDNEW
RGD ID:7221143
Promoter ID:EPDNEW_H16317
Type:initiation region
Name:SLC29A2_1
Description:solute carrier family 29 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16316  EPDNEW_H16318  EPDNEW_H16319  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,371,747 - 66,371,807EPDNEW
RGD ID:7221145
Promoter ID:EPDNEW_H16318
Type:initiation region
Name:SLC29A2_2
Description:solute carrier family 29 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16316  EPDNEW_H16317  EPDNEW_H16319  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,372,109 - 66,372,169EPDNEW
RGD ID:7221149
Promoter ID:EPDNEW_H16319
Type:initiation region
Name:SLC29A2_4
Description:solute carrier family 29 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16316  EPDNEW_H16317  EPDNEW_H16318  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,372,446 - 66,372,506EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 copy number gain See cases [RCV000053623] Chr11:66193502..67890770 [GRCh38]
Chr11:65960973..67658241 [GRCh37]
Chr11:65717549..67414817 [NCBI36]
Chr11:11q13.2
pathogenic
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 copy number loss See cases [RCV000142881] Chr11:65741431..67705669 [GRCh38]
Chr11:65508902..67473140 [GRCh37]
Chr11:65265478..67229716 [NCBI36]
Chr11:11q13.1-13.2
pathogenic
GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3 copy number gain See cases [RCV000240374] Chr11:66024774..67430781 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3 copy number gain See cases [RCV000511632] Chr11:64501919..67129258 [GRCh37]
Chr11:11q13.1-13.2
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) copy number gain not provided [RCV000767601] Chr11:65138976..67574402 [GRCh37]
Chr11:11q13.1-13.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Epilepsy, familial temporal lobe, 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11004 AgrOrtholog
COSMIC SLC29A2 COSMIC
Ensembl Genes ENSG00000174669 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000311250 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000350024 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000439456 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000440329 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000442116 UniProtKB/Swiss-Prot
  ENSP00000444870 UniProtKB/Swiss-Prot
  ENSP00000481944 UniProtKB/TrEMBL
Ensembl Transcript ENST00000311161 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000357440 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000540386 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000541567 UniProtKB/Swiss-Prot
  ENST00000544554 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000546034 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000619145 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot
GTEx ENSG00000174669 GTEx
HGNC ID HGNC:11004 ENTREZGENE
Human Proteome Map SLC29A2 Human Proteome Map
InterPro ENT1/ENT2 UniProtKB/Swiss-Prot
  ENT2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Eqnu_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot
KEGG Report hsa:3177 UniProtKB/Swiss-Prot
NCBI Gene 3177 ENTREZGENE
OMIM 602110 OMIM
PANTHER PTHR10332 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10332:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nucleoside_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA191 PharmGKB, RGD
PIRSF ENT UniProtKB/Swiss-Prot
PRINTS DERENTRNSPRT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot
TIGRFAMs 2a57 UniProtKB/Swiss-Prot
UniProt G5E943 ENTREZGENE, UniProtKB/TrEMBL
  Q14542 ENTREZGENE
  Q96FB2 ENTREZGENE, UniProtKB/TrEMBL
  S29A2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KPY7 UniProtKB/Swiss-Prot
  O43530 UniProtKB/Swiss-Prot
  Q52M84 UniProtKB/Swiss-Prot
  Q96R00 UniProtKB/Swiss-Prot
  Q9UPE0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC29A2  solute carrier family 29 member 2    solute carrier family 29 (equilibrative nucleoside transporter), member 2  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC29A2  solute carrier family 29 (equilibrative nucleoside transporter), member 2    solute carrier family 29 (nucleoside transporters), member 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 SLC29A2  solute carrier family 29 (nucleoside transporters), member 2  SLC29A2  solute carrier family 29 (nucleoside transporters), member 2  Symbol and/or name change 5135510 APPROVED