SLC29A4 (solute carrier family 29 member 4) - Rat Genome Database

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Gene: SLC29A4 (solute carrier family 29 member 4) Homo sapiens
Analyze
Symbol: SLC29A4
Name: solute carrier family 29 member 4
RGD ID: 1321510
HGNC Page HGNC
Description: Enables several functions, including efflux transmembrane transporter activity; monoamine transmembrane transporter activity; and neurotransmitter transmembrane transporter activity. Involved in several processes, including cation transport; export across plasma membrane; and monoamine transport. Part of apical plasma membrane and basolateral plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ENT4; equilibrative nucleoside transporter 4; FLJ34923; hENT4; plasma membrane monoamine transporter; PMAT; solute carrier family 29 (equilibrative nucleoside transporter), member 4; solute carrier family 29 (nucleoside transporters), member 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SLC29A4P1   SLC29A4P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl75,274,369 - 5,306,912 (+)EnsemblGRCh38hg38GRCh38
GRCh3875,274,311 - 5,306,912 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3775,322,574 - 5,346,543 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,289,087 - 5,310,230 (+)NCBINCBI36hg18NCBI36
Build 3475,095,815 - 5,116,931NCBI
Celera75,287,760 - 5,304,022 (+)NCBI
Cytogenetic Map7p22.1NCBI
HuRef75,237,590 - 5,258,085 (+)NCBIHuRef
CHM1_175,322,266 - 5,343,242 (+)NCBICHM1_1
CRA_TCAGchr7v275,368,916 - 5,390,059 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:12838422   PMID:14702039   PMID:15448143   PMID:16099839   PMID:16873718   PMID:17018840   PMID:17121826   PMID:17393420   PMID:18523561   PMID:19357181  
PMID:20392501   PMID:20858707   PMID:21822668   PMID:21873635   PMID:22562044   PMID:23255610   PMID:23505051   PMID:24471494   PMID:26376205   PMID:26590417   PMID:26760575   PMID:30280653  
PMID:30885951   PMID:31537831   PMID:31842924  


Genomics

Comparative Map Data
SLC29A4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl75,274,369 - 5,306,912 (+)EnsemblGRCh38hg38GRCh38
GRCh3875,274,311 - 5,306,912 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3775,322,574 - 5,346,543 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,289,087 - 5,310,230 (+)NCBINCBI36hg18NCBI36
Build 3475,095,815 - 5,116,931NCBI
Celera75,287,760 - 5,304,022 (+)NCBI
Cytogenetic Map7p22.1NCBI
HuRef75,237,590 - 5,258,085 (+)NCBIHuRef
CHM1_175,322,266 - 5,343,242 (+)NCBICHM1_1
CRA_TCAGchr7v275,368,916 - 5,390,059 (+)NCBI
Slc29a4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395142,678,124 - 142,708,245 (+)NCBIGRCm39mm39
GRCm39 Ensembl5142,678,267 - 142,708,245 (+)Ensembl
GRCm385142,692,478 - 142,722,490 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5142,692,512 - 142,722,490 (+)EnsemblGRCm38mm10GRCm38
MGSCv375143,178,055 - 143,198,443 (+)NCBIGRCm37mm9NCBIm37
MGSCv365142,954,391 - 142,977,880 (+)NCBImm8
Celera5139,765,811 - 139,776,351 (+)NCBICelera
Cytogenetic Map5G2NCBI
Slc29a4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21211,853,540 - 11,884,660 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1211,853,540 - 11,874,834 (-)Ensembl
Rnor_6.01213,914,114 - 13,924,511 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1213,914,114 - 13,924,531 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01215,942,167 - 15,976,640 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,241,259 - 12,251,656 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11212,272,150 - 12,284,079 (-)NCBI
Celera1213,639,832 - 13,659,864 (-)NCBICelera
Cytogenetic Map12p11NCBI
Slc29a4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546010,155,899 - 10,181,974 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546010,155,916 - 10,181,974 (+)NCBIChiLan1.0ChiLan1.0
SLC29A4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.175,559,540 - 5,576,771 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl75,560,565 - 5,575,637 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v075,538,436 - 5,559,506 (+)NCBIMhudiblu_PPA_v0panPan3
SLC29A4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1612,607,708 - 12,634,572 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl612,608,713 - 12,622,478 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha614,078,449 - 14,105,244 (-)NCBI
ROS_Cfam_1.0612,743,923 - 12,770,753 (-)NCBI
UMICH_Zoey_3.1612,554,855 - 12,581,654 (-)NCBI
UNSW_CanFamBas_1.0612,488,064 - 12,514,839 (-)NCBI
UU_Cfam_GSD_1.0612,764,693 - 12,791,487 (-)NCBI
Slc29a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344140,863,645 - 140,887,329 (-)NCBI
SpeTri2.0NW_004936765854,712 - 868,001 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC29A4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl33,862,251 - 3,878,239 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.133,854,466 - 3,879,117 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.234,537,619 - 4,541,229 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC29A4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12816,429,879 - 16,450,580 (-)NCBI
ChlSab1.1 Ensembl2816,429,413 - 16,450,324 (-)Ensembl
Vero_WHO_p1.0NW_0236660905,524,669 - 5,546,232 (+)NCBI
Slc29a4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474028,254,635 - 28,280,304 (-)NCBI

Position Markers
T15458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,343,508 - 5,343,657UniSTSGRCh37
Build 3675,310,034 - 5,310,183RGDNCBI36
Celera75,303,826 - 5,303,975RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,257,889 - 5,258,038UniSTS
CRA_TCAGchr7v275,389,863 - 5,390,012UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S2126E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22.1UniSTS
TNG Radiation Hybrid Map727767.0UniSTS
Stanford-G3 RH Map72629.0UniSTS
GeneMap99-GB4 RH Map7323.79UniSTS
GeneMap99-G3 RH Map72629.0UniSTS
D7S541E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22.1UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S541E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5113
Count of miRNA genes:937
Interacting mature miRNAs:1147
Transcripts:ENST00000297195, ENST00000396872, ENST00000406453, ENST00000434816, ENST00000439491, ENST00000444741
Prediction methods:Microtar, Miranda, Rnahybrid
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
High
Medium 54 29 434 74 7 74 496 42 1053 158 160 453 1 690 7
Low 2338 1033 1174 455 870 323 2890 1667 2587 256 1259 1049 143 1 510 1823 4
Below cutoff 45 1919 116 92 1043 66 970 487 93 5 36 109 29 4 958

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001040661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL515106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY485959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM069878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU740709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H07897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297195   ⟹   ENSP00000297195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,282,969 - 5,304,060 (+)Ensembl
RefSeq Acc Id: ENST00000396872   ⟹   ENSP00000380081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,282,943 - 5,306,912 (+)Ensembl
RefSeq Acc Id: ENST00000406453   ⟹   ENSP00000385845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,283,029 - 5,304,060 (+)Ensembl
RefSeq Acc Id: ENST00000434816   ⟹   ENSP00000406803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,274,369 - 5,291,766 (+)Ensembl
RefSeq Acc Id: ENST00000439491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,299,329 - 5,303,680 (+)Ensembl
RefSeq Acc Id: ENST00000444741   ⟹   ENSP00000413271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,282,962 - 5,291,767 (+)Ensembl
RefSeq Acc Id: NM_001040661   ⟹   NP_001035751
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,282,943 - 5,306,912 (+)NCBI
GRCh3775,322,561 - 5,343,704 (+)ENTREZGENE
Build 3675,289,087 - 5,310,230 (+)NCBI Archive
HuRef75,237,590 - 5,258,085 (+)ENTREZGENE
CHM1_175,322,266 - 5,343,242 (+)NCBI
CRA_TCAGchr7v275,368,916 - 5,390,059 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001300847   ⟹   NP_001287776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,282,943 - 5,306,912 (+)NCBI
CHM1_175,322,266 - 5,343,242 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153247   ⟹   NP_694979
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,282,943 - 5,306,912 (+)NCBI
GRCh3775,322,561 - 5,343,704 (+)ENTREZGENE
Build 3675,289,087 - 5,310,230 (+)NCBI Archive
HuRef75,237,590 - 5,258,085 (+)ENTREZGENE
CHM1_175,322,266 - 5,343,242 (+)NCBI
CRA_TCAGchr7v275,368,916 - 5,390,059 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005249658   ⟹   XP_005249715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,282,967 - 5,304,060 (+)NCBI
GRCh3775,322,561 - 5,343,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006715667   ⟹   XP_006715730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,274,457 - 5,304,060 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006715668   ⟹   XP_006715731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,282,944 - 5,304,060 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515200   ⟹   XP_011513502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,274,311 - 5,304,060 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515201   ⟹   XP_011513503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,274,311 - 5,304,060 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001035751   ⟸   NM_001040661
- Peptide Label: isoform 1
- UniProtKB: Q7RTT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_694979   ⟸   NM_153247
- Peptide Label: isoform 1
- UniProtKB: Q7RTT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005249715   ⟸   XM_005249658
- Peptide Label: isoform X2
- UniProtKB: Q7RTT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006715730   ⟸   XM_006715667
- Peptide Label: isoform X1
- UniProtKB: Q7RTT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006715731   ⟸   XM_006715668
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001287776   ⟸   NM_001300847
- Peptide Label: isoform 2
- UniProtKB: Q7RTT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513502   ⟸   XM_011515200
- Peptide Label: isoform X1
- UniProtKB: Q7RTT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513503   ⟸   XM_011515201
- Peptide Label: isoform X1
- UniProtKB: Q7RTT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000297195   ⟸   ENST00000297195
RefSeq Acc Id: ENSP00000413271   ⟸   ENST00000444741
RefSeq Acc Id: ENSP00000385845   ⟸   ENST00000406453
RefSeq Acc Id: ENSP00000406803   ⟸   ENST00000434816
RefSeq Acc Id: ENSP00000380081   ⟸   ENST00000396872

Promoters
RGD ID:7209861
Promoter ID:EPDNEW_H10676
Type:initiation region
Name:SLC29A4_1
Description:solute carrier family 29 member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,282,946 - 5,283,006EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.1(chr7:4532619-5378373)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|See cases [RCV000052255] Chr7:4532619..5378373 [GRCh38]
Chr7:4572250..5418004 [GRCh37]
Chr7:4538776..5384530 [NCBI36]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1 copy number loss See cases [RCV000052256] Chr7:5062000..6692258 [GRCh38]
Chr7:5101631..6731889 [GRCh37]
Chr7:5068157..6698414 [NCBI36]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1 copy number loss See cases [RCV000052263] Chr7:5062000..5825183 [GRCh38]
Chr7:5101631..5864814 [GRCh37]
Chr7:5068157..5831340 [NCBI36]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1 copy number loss See cases [RCV000052266] Chr7:5117519..5880375 [GRCh38]
Chr7:5157150..5920006 [GRCh37]
Chr7:5123676..5886532 [NCBI36]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3 copy number gain See cases [RCV000053408] Chr7:4876621..6492003 [GRCh38]
Chr7:4916252..6531634 [GRCh37]
Chr7:4882778..6498159 [NCBI36]
Chr7:7p22.1
uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3 copy number gain See cases [RCV000663395] Chr7:4644965..5436368 [GRCh37]
Chr7:7p22.1
likely pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.1(chr7:5171797-5480926)x3 copy number gain See cases [RCV000135371] Chr7:5171797..5480926 [GRCh38]
Chr7:5211428..5520557 [GRCh37]
Chr7:5177954..5487083 [NCBI36]
Chr7:7p22.1
uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3 copy number gain See cases [RCV000137977] Chr7:4849987..5760088 [GRCh38]
Chr7:4889618..5799719 [GRCh37]
Chr7:4856144..5766245 [NCBI36]
Chr7:7p22.1
likely pathogenic
GRCh38/hg38 7p22.1(chr7:5089286-5331174)x1 copy number loss See cases [RCV000139044] Chr7:5089286..5331174 [GRCh38]
Chr7:5128917..5370805 [GRCh37]
Chr7:5095443..5337331 [NCBI36]
Chr7:7p22.1
likely benign|conflicting data from submitters
GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3 copy number gain See cases [RCV000140259] Chr7:5171797..5635439 [GRCh38]
Chr7:5211428..5675070 [GRCh37]
Chr7:5177954..5641596 [NCBI36]
Chr7:7p22.1
uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
NM_153247.3(SLC29A4):c.116_124dup (p.Ala39_Gln41dup) duplication not provided [RCV000599370] Chr7:5287928..5287929 [GRCh38]
Chr7:5327559..5327560 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.1(chr7:4756391-5934779)x3 copy number gain See cases [RCV000448466] Chr7:4756391..5934779 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.1(chr7:5268201-5803877)x3 copy number gain See cases [RCV000510522] Chr7:5268201..5803877 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 copy number gain See cases [RCV000511909] Chr7:4839046..7110343 [GRCh37]
Chr7:7p22.1
likely pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.1(chr7:5340345-5641546)x1 copy number loss not provided [RCV000682818] Chr7:5340345..5641546 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.1(chr7:5198327-5347753)x1 copy number loss not provided [RCV000682798] Chr7:5198327..5347753 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
NM_153247.3(SLC29A4):c.1383C>A (p.Gly461=) single nucleotide variant not provided [RCV000970849] Chr7:5300595 [GRCh38]
Chr7:5340226 [GRCh37]
Chr7:7p22.1
benign
NM_153247.3(SLC29A4):c.882+8C>T single nucleotide variant not provided [RCV000959667] Chr7:5297206 [GRCh38]
Chr7:5336837 [GRCh37]
Chr7:7p22.1
benign
NM_153247.3(SLC29A4):c.894C>A (p.Ala298=) single nucleotide variant not provided [RCV000959668] Chr7:5298999 [GRCh38]
Chr7:5338630 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.1(chr7:5218459-6319917)x3 copy number gain not provided [RCV000845805] Chr7:5218459..6319917 [GRCh37]
Chr7:7p22.1
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
GRCh37/hg19 7p22.1(chr7:5295291-5348925)x1 copy number loss not provided [RCV000845587] Chr7:5295291..5348925 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_153247.3(SLC29A4):c.949G>A (p.Gly317Ser) single nucleotide variant not provided [RCV000953550] Chr7:5299054 [GRCh38]
Chr7:5338685 [GRCh37]
Chr7:7p22.1
benign
NM_153247.3(SLC29A4):c.1562C>T (p.Thr521Ile) single nucleotide variant not provided [RCV000979622] Chr7:5302908 [GRCh38]
Chr7:5342539 [GRCh37]
Chr7:7p22.1
likely benign
NM_153247.3(SLC29A4):c.70A>C (p.Met24Leu) single nucleotide variant not provided [RCV000959666] Chr7:5287886 [GRCh38]
Chr7:5327517 [GRCh37]
Chr7:7p22.1
benign
NM_153247.3(SLC29A4):c.1000C>T (p.Arg334Cys) single nucleotide variant not provided [RCV000975144] Chr7:5299105 [GRCh38]
Chr7:5338736 [GRCh37]
Chr7:7p22.1
benign
NM_153247.3(SLC29A4):c.858C>T (p.Asp286=) single nucleotide variant not provided [RCV000912614] Chr7:5297174 [GRCh38]
Chr7:5336805 [GRCh37]
Chr7:7p22.1
benign
NM_153247.3(SLC29A4):c.766C>T (p.Arg256Cys) single nucleotide variant not provided [RCV000957600] Chr7:5297082 [GRCh38]
Chr7:5336713 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.1(chr7:5268201-5397816)x1 copy number loss not provided [RCV001259434] Chr7:5268201..5397816 [GRCh37]
Chr7:7p22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23097 AgrOrtholog
COSMIC SLC29A4 COSMIC
Ensembl Genes ENSG00000164638 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000297195 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380081 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385845 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406803 UniProtKB/TrEMBL
  ENSP00000413271 UniProtKB/TrEMBL
Ensembl Transcript ENST00000297195 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396872 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000406453 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000434816 UniProtKB/TrEMBL
  ENST00000444741 UniProtKB/TrEMBL
GTEx ENSG00000164638 GTEx
HGNC ID HGNC:23097 ENTREZGENE
Human Proteome Map SLC29A4 Human Proteome Map
InterPro ENT4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Eqnu_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot
KEGG Report hsa:222962 UniProtKB/Swiss-Prot
NCBI Gene 222962 ENTREZGENE
OMIM 609149 OMIM
PANTHER PTHR10332 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10332:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nucleoside_tran UniProtKB/Swiss-Prot
PharmGKB PA134976472 PharmGKB
PIRSF ENT UniProtKB/Swiss-Prot
PRINTS DERENTRNSPRT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot
UniProt C9IYM7_HUMAN UniProtKB/TrEMBL
  C9JZA2_HUMAN UniProtKB/TrEMBL
  Q7RTT9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6PJ08 UniProtKB/Swiss-Prot
  Q86WY8 UniProtKB/Swiss-Prot
  Q8NAR3 UniProtKB/Swiss-Prot
  Q8NBM2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC29A4  solute carrier family 29 member 4    solute carrier family 29 (equilibrative nucleoside transporter), member 4  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC29A4  solute carrier family 29 (equilibrative nucleoside transporter), member 4    solute carrier family 29 (nucleoside transporters), member 4  Symbol and/or name change 5135510 APPROVED
2011-08-17 SLC29A4  solute carrier family 29 (nucleoside transporters), member 4  SLC29A4  solute carrier family 29 (nucleoside transporters), member 4  Symbol and/or name change 5135510 APPROVED