SLC45A4 (solute carrier family 45 member 4) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SLC45A4 (solute carrier family 45 member 4) Homo sapiens
Analyze
Symbol: SLC45A4
Name: solute carrier family 45 member 4
RGD ID: 1607016
HGNC Page HGNC
Description: Predicted to have sucrose:proton symporter activity. Predicted to be involved in sucrose transport. Predicted to localize to membrane; INTERACTS WITH 17beta-estradiol; 3-Iodothyronamine; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: KIAA1126; solute carrier family 45, member 4
RGD Orthologs
Mouse
Rat
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 Ensembl8141,207,166 - 141,308,305 (-)EnsemblGRCh38hg38GRCh38
GRCh388141,207,169 - 141,308,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378142,217,273 - 142,318,387 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368142,290,052 - 142,307,855 (-)NCBINCBI36hg18NCBI36
Celera8138,389,005 - 138,406,794 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8137,532,408 - 137,550,219 (-)NCBIHuRef
CHM1_18142,257,994 - 142,305,442 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
sucrose transport  (IEA,ISO,ISS)

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10574461   PMID:12477932   PMID:21873635   PMID:21926972   PMID:25164149   PMID:28065597   PMID:28298427   PMID:29507755  


Genomics

Comparative Map Data
SLC45A4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8141,207,166 - 141,308,305 (-)EnsemblGRCh38hg38GRCh38
GRCh388141,207,169 - 141,308,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378142,217,273 - 142,318,387 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368142,290,052 - 142,307,855 (-)NCBINCBI36hg18NCBI36
Celera8138,389,005 - 138,406,794 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8137,532,408 - 137,550,219 (-)NCBIHuRef
CHM1_18142,257,994 - 142,305,442 (-)NCBICHM1_1
Slc45a4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391573,449,267 - 73,517,606 (-)NCBIGRCm39mm39
GRCm39 Ensembl1573,449,273 - 73,517,611 (-)Ensembl
GRCm381573,577,418 - 73,645,757 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1573,577,424 - 73,645,762 (-)EnsemblGRCm38mm10GRCm38
MGSCv371573,410,720 - 73,455,174 (-)NCBIGRCm37mm9NCBIm37
MGSCv361573,408,813 - 73,452,000 (-)NCBImm8
Celera1575,084,641 - 75,130,643 (-)NCBICelera
Cytogenetic Map15D3NCBI
Slc45a4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27105,478,886 - 105,550,160 (-)NCBI
Rnor_6.0 Ensembl7114,821,971 - 114,848,414 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07114,817,817 - 114,888,998 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07114,741,753 - 114,812,934 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47111,283,726 - 111,311,116 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17111,317,959 - 111,345,614 (-)NCBI
Celera7101,886,429 - 101,957,293 (-)NCBICelera
Cytogenetic Map7q34NCBI
SLC45A4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18140,966,259 - 141,064,663 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8140,969,934 - 141,012,735 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08137,882,787 - 137,984,483 (-)NCBIMhudiblu_PPA_v0panPan3
SLC45A4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11335,704,780 - 35,787,037 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1335,707,692 - 35,748,183 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1335,568,115 - 35,646,057 (-)NCBI
ROS_Cfam_1.01336,094,384 - 36,172,646 (-)NCBI
UMICH_Zoey_3.11335,814,440 - 35,892,822 (-)NCBI
UNSW_CanFamBas_1.01335,904,198 - 35,982,562 (-)NCBI
UU_Cfam_GSD_1.01336,324,387 - 36,402,945 (-)NCBI
Slc45a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053032,743,881 - 2,790,191 (+)NCBI
SpeTri2.0NW_00493647010,178,399 - 10,216,290 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC45A4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl42,472,259 - 2,520,109 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.142,471,269 - 2,523,041 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,995,224 - 2,034,074 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC45A4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18135,449,973 - 135,544,275 (-)NCBI
ChlSab1.1 Ensembl8135,450,220 - 135,492,234 (-)Ensembl
Vero_WHO_p1.0NW_0236660394,585,037 - 4,684,960 (+)NCBI
Slc45a4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473515,067,474 - 15,150,553 (+)NCBI

Position Markers
RH93689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378142,220,804 - 142,220,963UniSTSGRCh37
Build 368142,289,986 - 142,290,145RGDNCBI36
Celera8138,388,939 - 138,389,098RGD
Cytogenetic Map8q24.3UniSTS
HuRef8137,532,342 - 137,532,501UniSTS
GeneMap99-GB4 RH Map8541.78UniSTS
STS-N29778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378142,220,849 - 142,220,982UniSTSGRCh37
Build 368142,290,031 - 142,290,164RGDNCBI36
Celera8138,388,984 - 138,389,117RGD
Cytogenetic Map8q24.3UniSTS
HuRef8137,532,387 - 137,532,520UniSTS
GeneMap99-GB4 RH Map1292.37UniSTS
NCBI RH Map12235.6UniSTS
SGC32017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378142,217,284 - 142,217,432UniSTSGRCh37
Build 368142,286,466 - 142,286,614RGDNCBI36
Celera8138,385,420 - 138,385,568RGD
Cytogenetic Map8q24.3UniSTS
HuRef8137,528,823 - 137,528,971UniSTS
GeneMap99-GB4 RH Map8542.63UniSTS
Whitehead-RH Map8706.9UniSTS
WI-18501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378142,217,274 - 142,217,423UniSTSGRCh37
Build 368142,286,456 - 142,286,605RGDNCBI36
Celera8138,385,410 - 138,385,559RGD
Cytogenetic Map8q24.3UniSTS
HuRef8137,528,813 - 137,528,962UniSTS
GeneMap99-GB4 RH Map8542.81UniSTS
Whitehead-RH Map8707.4UniSTS
NCBI RH Map81603.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4754
Count of miRNA genes:1245
Interacting mature miRNAs:1600
Transcripts:ENST00000024061, ENST00000433583, ENST00000517878, ENST00000519067, ENST00000519986, ENST00000520137, ENST00000521804
Prediction methods:Microtar, 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 200 1033 619 47 648 29 442 21 914 129 741 673 28 14 310 2
Low 2239 1942 922 393 1291 252 3914 2160 2764 289 719 937 147 1 1190 2477 4 2
Below cutoff 15 177 177 8 177 1 15 56 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001080431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB032952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI769055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC157840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX166285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000024061   ⟹   ENSP00000024061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8141,210,601 - 141,228,574 (-)Ensembl
RefSeq Acc Id: ENST00000517878   ⟹   ENSP00000428137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8141,210,529 - 141,254,229 (-)Ensembl
RefSeq Acc Id: ENST00000519067   ⟹   ENSP00000429059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8141,207,166 - 141,228,570 (-)Ensembl
RefSeq Acc Id: ENST00000519986   ⟹   ENSP00000429974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8141,219,747 - 141,230,348 (-)Ensembl
RefSeq Acc Id: ENST00000520137   ⟹   ENSP00000429033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8141,218,774 - 141,308,305 (-)Ensembl
RefSeq Acc Id: ENST00000521804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8141,254,101 - 141,308,292 (-)Ensembl
RefSeq Acc Id: NM_001080431   ⟹   NP_001073900
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,174 - 141,228,574 (-)NCBI
GRCh378142,217,273 - 142,310,241 (-)NCBI
Build 368142,290,052 - 142,307,855 (-)NCBI Archive
Celera8138,389,005 - 138,406,794 (-)RGD
HuRef8137,528,804 - 137,575,691 (-)NCBI
CHM1_18142,257,994 - 142,279,408 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286646   ⟹   NP_001273575
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,174 - 141,308,288 (-)NCBI
HuRef8137,528,804 - 137,575,691 (-)NCBI
CHM1_18142,257,994 - 142,305,442 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286648   ⟹   NP_001273577
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,211,946 - 141,228,574 (-)NCBI
HuRef8137,528,804 - 137,575,691 (-)NCBI
CHM1_18142,262,756 - 142,279,408 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517170   ⟹   XP_011515472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,305,963 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517171   ⟹   XP_011515473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,305,960 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517172   ⟹   XP_011515474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,267,032 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517173   ⟹   XP_011515475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,211,596 - 141,308,136 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517174   ⟹   XP_011515476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,228,574 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517176   ⟹   XP_011515478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,308,136 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517177   ⟹   XP_011515479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,231,012 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517178   ⟹   XP_011515480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,240,642 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517179   ⟹   XP_011515481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,308,321 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013648   ⟹   XP_016869137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,300,518 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013649   ⟹   XP_016869138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,307,164 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013650   ⟹   XP_016869139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,207,169 - 141,300,527 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001073900   ⟸   NM_001080431
- Peptide Label: isoform 2
- UniProtKB: Q5BKX6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273575   ⟸   NM_001286646
- Peptide Label: isoform 1
- UniProtKB: Q5BKX6 (UniProtKB/Swiss-Prot),   B2RXG1 (UniProtKB/TrEMBL),   E7EV90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273577   ⟸   NM_001286648
- Peptide Label: isoform 3
- UniProtKB: Q5BKX6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515481   ⟸   XM_011517179
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011515478   ⟸   XM_011517176
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011515472   ⟸   XM_011517170
- Peptide Label: isoform X1
- UniProtKB: E7EV90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515473   ⟸   XM_011517171
- Peptide Label: isoform X1
- UniProtKB: E7EV90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515474   ⟸   XM_011517172
- Peptide Label: isoform X1
- UniProtKB: E7EV90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515480   ⟸   XM_011517178
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011515479   ⟸   XM_011517177
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011515476   ⟸   XM_011517174
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515475   ⟸   XM_011517173
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869138   ⟸   XM_017013649
- Peptide Label: isoform X1
- UniProtKB: E7EV90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869139   ⟸   XM_017013650
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869137   ⟸   XM_017013648
- Peptide Label: isoform X1
- UniProtKB: E7EV90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000428137   ⟸   ENST00000517878
RefSeq Acc Id: ENSP00000429059   ⟸   ENST00000519067
RefSeq Acc Id: ENSP00000429974   ⟸   ENST00000519986
RefSeq Acc Id: ENSP00000429033   ⟸   ENST00000520137
RefSeq Acc Id: ENSP00000024061   ⟸   ENST00000024061

Promoters
RGD ID:7214269
Promoter ID:EPDNEW_H12881
Type:multiple initiation site
Name:SLC45A4_1
Description:solute carrier family 45 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
GRCh388141,228,513 - 141,228,573EPDNEW
RGD ID:6807031
Promoter ID:HG_KWN:62207
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_001080431,   UC003YWC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368142,307,716 - 142,308,467 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141131265-142117372)x3 copy number gain See cases [RCV000052186] Chr8:141131265..142117372 [GRCh38]
Chr8:142141364..143198733 [GRCh37]
Chr8:142210546..143196640 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141850516-143511413)x3 copy number gain See cases [RCV000512275] Chr8:141850516..143511413 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142202712-142229904)x3 copy number gain not provided [RCV000747893] Chr8:142202712..142229904 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142202884-142229904)x3 copy number gain not provided [RCV000747894] Chr8:142202884..142229904 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142209543-142222331)x4 copy number gain not provided [RCV000747895] Chr8:142209543..142222331 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.2268G>C (p.Glu756Asp) single nucleotide variant not provided [RCV000973429] Chr8:141212230 [GRCh38]
Chr8:142222329 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.573G>A (p.Glu191=) single nucleotide variant not provided [RCV000970190] Chr8:141219687 [GRCh38]
Chr8:142229786 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.444C>A (p.Gly148=) single nucleotide variant not provided [RCV000947141] Chr8:141219816 [GRCh38]
Chr8:142229915 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.1353G>A (p.Pro451=) single nucleotide variant not provided [RCV000968139] Chr8:141218287 [GRCh38]
Chr8:142228386 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.1226C>T (p.Ser409Leu) single nucleotide variant not provided [RCV000970189] Chr8:141218414 [GRCh38]
Chr8:142228513 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.2259G>A (p.Thr753=) single nucleotide variant not provided [RCV000970187] Chr8:141212239 [GRCh38]
Chr8:142222338 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.1647C>T (p.Thr549=) single nucleotide variant not provided [RCV000970188] Chr8:141217172 [GRCh38]
Chr8:142227271 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_001286646.1(SLC45A4):c.1194C>T (p.Tyr398=) single nucleotide variant not provided [RCV000969547] Chr8:141218446 [GRCh38]
Chr8:142228545 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.816G>A (p.Leu272=) single nucleotide variant not provided [RCV000969548] Chr8:141218824 [GRCh38]
Chr8:142228923 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.1838A>G (p.Asn613Ser) single nucleotide variant not provided [RCV000953268] Chr8:141215862 [GRCh38]
Chr8:142225961 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.2302-3T>C single nucleotide variant not provided [RCV000956679] Chr8:141211700 [GRCh38]
Chr8:142221799 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.1104G>A (p.Lys368=) single nucleotide variant not provided [RCV000956680] Chr8:141218536 [GRCh38]
Chr8:142228635 [GRCh37]
Chr8:8q24.3
benign
NM_001286646.1(SLC45A4):c.1578C>A (p.Ala526=) single nucleotide variant not provided [RCV000889702] Chr8:141218062 [GRCh38]
Chr8:142228161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29196 AgrOrtholog
COSMIC SLC45A4 COSMIC
Ensembl Genes ENSG00000022567 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000024061 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428137 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000429033 UniProtKB/TrEMBL
  ENSP00000429059 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429974 UniProtKB/TrEMBL
Ensembl Transcript ENST00000024061 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517878 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000519067 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519986 UniProtKB/TrEMBL
  ENST00000520137 UniProtKB/TrEMBL
GTEx ENSG00000022567 GTEx
HGNC ID HGNC:29196 ENTREZGENE
Human Proteome Map SLC45A4 Human Proteome Map
InterPro MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57210 UniProtKB/Swiss-Prot
NCBI Gene 57210 ENTREZGENE
PharmGKB PA142670902 PharmGKB
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RXG1 ENTREZGENE, UniProtKB/TrEMBL
  E5RGN5_HUMAN UniProtKB/TrEMBL
  E5RJM7_HUMAN UniProtKB/TrEMBL
  E7EV90 ENTREZGENE, UniProtKB/TrEMBL
  Q5BKX6 ENTREZGENE
  Q7L180_HUMAN UniProtKB/TrEMBL
  S45A4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6ZRI2 UniProtKB/Swiss-Prot
  Q9ULU3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 SLC45A4  solute carrier family 45 member 4    solute carrier family 45, member 4  Symbol and/or name change 5135510 APPROVED