SLCO4A1 (solute carrier organic anion transporter family member 4A1) - Rat Genome Database

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Gene: SLCO4A1 (solute carrier organic anion transporter family member 4A1) Homo sapiens
Analyze
Symbol: SLCO4A1
Name: solute carrier organic anion transporter family member 4A1
RGD ID: 735453
HGNC Page HGNC:10953
Description: Enables organic anion transmembrane transporter activity and prostaglandin transmembrane transporter activity. Predicted to be involved in sodium-independent organic anion transport. Predicted to be located in plasma membrane. Predicted to be active in basolateral plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: colon organic anion transporter; OATP-E; OATP-RP1; OATP1; OATP4A1; OATPE; OATPRP1; organic anion transporter polypeptide-related protein 1; organic anion transporting polypeptide E; organic anion-transporting polypeptide E; POAT; SLC21A12; sodium-independent organic anion transporter E; solute carrier family 21 (organic anion transporter), member 12; solute carrier family 21 member 12; solute carrier organic anion transporter family, member 4A1
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
GRCh382062,642,503 - 62,690,740 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2062,642,503 - 62,685,785 (+)EnsemblGRCh38hg38GRCh38
GRCh372061,273,855 - 61,303,645 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362060,744,242 - 60,774,092 (+)NCBINCBI36Build 36hg18NCBI36
Build 342060,744,241 - 60,774,092NCBI
Celera2057,949,700 - 57,979,500 (+)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2057,991,392 - 58,013,962 (+)NCBIHuRef
CHM1_12061,174,804 - 61,204,654 (+)NCBICHM1_1
T2T-CHM13v2.02064,441,223 - 64,489,475 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-dichloroaniline  (EXP)
3-Iodothyronamine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
caffeine  (EXP)
cantharidin  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diazinon  (EXP)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP,ISO)
diuron  (EXP)
dorsomorphin  (EXP)
enilconazole  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
flavonoids  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
genistein  (ISO)
glyphosate  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
malathion  (EXP)
manganese(II) chloride  (ISO)
methyl methanesulfonate  (EXP)
mitoxantrone  (EXP)
nickel sulfate  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorooctanoic acid  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
pravastatin  (ISO)
propanal  (EXP)
protein kinase inhibitor  (EXP)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
succimer  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vanadium atom  (EXP)
vanadium(0)  (EXP)
withaferin A  (EXP)
zaragozic acid A  (ISO)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Identification of thyroid hormone transporters in humans: different molecules are involved in a tissue-specific manner. Fujiwara K, etal., Endocrinology 2001 May;142(5):2005-12.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:10873595   PMID:11780052   PMID:12477932   PMID:12915686   PMID:14579113   PMID:14702039   PMID:15302935   PMID:15489334   PMID:15994332   PMID:16341674   PMID:19129463   PMID:19343046  
PMID:21486766   PMID:21873635   PMID:25301452   PMID:26349991   PMID:26439863   PMID:26496610   PMID:26638075   PMID:28298427   PMID:28378090   PMID:29734253   PMID:30639242   PMID:31871319  
PMID:32296183   PMID:32393512   PMID:32694731   PMID:33961781   PMID:34079125   PMID:34638773   PMID:34672954   PMID:35748872   PMID:38275113  


Genomics

Comparative Map Data
SLCO4A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382062,642,503 - 62,690,740 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2062,642,503 - 62,685,785 (+)EnsemblGRCh38hg38GRCh38
GRCh372061,273,855 - 61,303,645 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362060,744,242 - 60,774,092 (+)NCBINCBI36Build 36hg18NCBI36
Build 342060,744,241 - 60,774,092NCBI
Celera2057,949,700 - 57,979,500 (+)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2057,991,392 - 58,013,962 (+)NCBIHuRef
CHM1_12061,174,804 - 61,204,654 (+)NCBICHM1_1
T2T-CHM13v2.02064,441,223 - 64,489,475 (+)NCBIT2T-CHM13v2.0
Slco4a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392180,098,019 - 180,116,646 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2180,098,038 - 180,116,660 (+)EnsemblGRCm39 Ensembl
GRCm382180,456,226 - 180,474,853 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2180,456,245 - 180,474,867 (+)EnsemblGRCm38mm10GRCm38
MGSCv372180,195,683 - 180,209,557 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362180,390,386 - 180,404,260 (+)NCBIMGSCv36mm8
Celera2184,546,133 - 184,560,065 (+)NCBICelera
Cytogenetic Map2H4NCBI
cM Map2102.99NCBI
Slco4a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83187,936,735 - 187,955,873 (+)NCBIGRCr8
mRatBN7.23167,559,177 - 167,578,307 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3167,559,316 - 167,578,305 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3171,935,617 - 171,954,604 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03180,894,703 - 180,913,690 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03177,560,238 - 177,579,229 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03175,838,994 - 175,857,985 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3175,838,994 - 175,857,983 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03181,259,387 - 181,278,432 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43169,520,588 - 169,539,579 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13169,426,623 - 169,445,613 (+)NCBI
Celera3165,001,762 - 165,020,934 (-)NCBICelera
Cytogenetic Map3q43NCBI
Slco4a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555281,436,009 - 1,455,940 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555281,436,058 - 1,449,178 (-)NCBIChiLan1.0ChiLan1.0
SLCO4A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22168,431,172 - 68,476,508 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12068,424,292 - 68,469,628 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02059,030,815 - 59,076,132 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12060,339,309 - 60,355,374 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2060,339,319 - 60,355,374 (+)Ensemblpanpan1.1panPan2
SLCO4A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12446,538,847 - 46,560,728 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2446,544,116 - 46,560,824 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2445,720,824 - 45,744,997 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02447,405,510 - 47,429,748 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2447,412,130 - 47,429,757 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12446,511,609 - 46,530,767 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02446,630,127 - 46,654,151 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02447,389,828 - 47,409,029 (+)NCBIUU_Cfam_GSD_1.0
Slco4a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640194,746,192 - 194,768,789 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651410,199,850 - 10,222,435 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651410,199,912 - 10,222,432 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLCO4A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1761,947,628 - 61,969,970 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11761,947,636 - 61,969,391 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLCO4A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121,559,333 - 1,589,458 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605049,449,109 - 49,493,253 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slco4a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474128,458,900 - 28,472,105 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474128,450,422 - 28,470,579 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLCO4A1
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1 copy number loss See cases [RCV000052768] Chr20:62455231..63839491 [GRCh38]
Chr20:61030287..62470844 [GRCh37]
Chr20:60463682..61941288 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 copy number loss See cases [RCV000052769] Chr20:62545370..64241486 [GRCh38]
Chr20:61142577..62872839 [GRCh37]
Chr20:60553022..62343283 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62561794-63331723)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052770]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052770]|See cases [RCV000052770] Chr20:62561794..63331723 [GRCh38]
Chr20:61211869..61963075 [GRCh37]
Chr20:60569446..61433519 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NC_000020.10:g.(?_60831241)_(62664346_?)dup duplication Developmental and epileptic encephalopathy, 33 [RCV001295457]|Early infantile epileptic encephalopathy with suppression bursts [RCV001316934] Chr20:60831241..62664346 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1 copy number loss See cases [RCV000133842] Chr20:62561794..64277321 [GRCh38]
Chr20:61211869..62908674 [GRCh37]
Chr20:60569446..62379118 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 copy number gain See cases [RCV000135805] Chr20:59041966..64277321 [GRCh38]
Chr20:57617021..62908674 [GRCh37]
Chr20:57050416..62379118 [NCBI36]
Chr20:20q13.32-13.33		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 copy number gain See cases [RCV000139100] Chr20:61326549..64277326 [GRCh38]
Chr20:59901605..62908679 [GRCh37]
Chr20:59335000..62379123 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1 copy number loss See cases [RCV000141744] Chr20:62582073..64284202 [GRCh38]
Chr20:61179280..62915555 [GRCh37]
Chr20:60589725..62385999 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1 copy number loss See cases [RCV000141676] Chr20:62663307..64284202 [GRCh38]
Chr20:61294659..62915555 [GRCh37]
Chr20:60765104..62385999 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1 copy number loss Breast ductal adenocarcinoma [RCV000207130] Chr20:60882468..62045494 [GRCh37]
Chr20:20q13.33		 uncertain significance
chr20:60885242-61929348 complex variant complex Breast ductal adenocarcinoma [RCV000207152] Chr20:60885242..61929348 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3 copy number gain See cases [RCV000446009] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_016354.4(SLCO4A1):c.1552G>T (p.Val518Leu) single nucleotide variant Inborn genetic diseases [RCV003273786] Chr20:62667824 [GRCh38]
Chr20:61299176 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1577A>G (p.Tyr526Cys) single nucleotide variant Inborn genetic diseases [RCV003266647] Chr20:62667849 [GRCh38]
Chr20:61299201 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61022397-61738592)x1 copy number loss not provided [RCV000684122] Chr20:61022397..61738592 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3 copy number gain not provided [RCV000741328] Chr20:60053234..62961294 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3 copy number gain not provided [RCV000741329] Chr20:60063645..62961294 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_016354.4(SLCO4A1):c.1826C>T (p.Pro609Leu) single nucleotide variant Inborn genetic diseases [RCV003267631] Chr20:62668491 [GRCh38]
Chr20:61299843 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1 copy number loss not provided [RCV001007103] Chr20:61152321..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) copy number gain not provided [RCV000767669] Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
NM_016354.4(SLCO4A1):c.1468G>A (p.Gly490Arg) single nucleotide variant Inborn genetic diseases [RCV003267505] Chr20:62666571 [GRCh38]
Chr20:61297923 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.33(chr20:61033338-61412941)x3 copy number gain not provided [RCV000845926] Chr20:61033338..61412941 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:60946209-61975606)x3 copy number gain not provided [RCV000847979] Chr20:60946209..61975606 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61152321-61282520)x1 copy number loss not provided [RCV001007102] Chr20:61152321..61282520 [GRCh37]
Chr20:20q13.33		 likely benign
NM_016354.4(SLCO4A1):c.884G>A (p.Arg295Gln) single nucleotide variant Inborn genetic diseases [RCV003252066] Chr20:62658764 [GRCh38]
Chr20:61290116 [GRCh37]
Chr20:20q13.33		 likely benign
NC_000020.10:g.(?_60831241)_(62680869_?)dup duplication Developmental and epileptic encephalopathy, 33 [RCV003107566]|Early infantile epileptic encephalopathy with suppression bursts [RCV003122564] Chr20:60831241..62680869 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 copy number gain not provided [RCV001007097] Chr20:55743522..62032989 [GRCh37]
Chr20:20q13.31-13.33		 pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 copy number gain not provided [RCV001007098] Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 copy number gain not provided [RCV001537917] Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61038552-62907579) copy number loss Seizures, benign familial neonatal, 1 [RCV001786557] Chr20:61038552..62907579 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61041481-62680992) copy number loss Seizures, benign familial neonatal, 1 [RCV001786555] Chr20:61041481..62680992 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61273854-62907579) copy number loss Seizures, benign familial neonatal, 1 [RCV001786556] Chr20:61273854..62907579 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) copy number gain not specified [RCV002052713] Chr20:56835739..62915555 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555) copy number gain not specified [RCV002052714] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61003263-62915555) copy number loss not specified [RCV002052717] Chr20:61003263..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
Single allele duplication not specified [RCV002286379] Chr20:61800345..63644611 [GRCh38]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3 copy number gain not provided [RCV002473575] Chr20:60621074..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.2038C>T (p.Leu680Phe) single nucleotide variant Inborn genetic diseases [RCV002882640] Chr20:62671762 [GRCh38]
Chr20:61303114 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.715G>T (p.Val239Leu) single nucleotide variant Inborn genetic diseases [RCV002841186] Chr20:62657169 [GRCh38]
Chr20:61288521 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.721G>A (p.Ala241Thr) single nucleotide variant Inborn genetic diseases [RCV002906661] Chr20:62657175 [GRCh38]
Chr20:61288527 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1510T>C (p.Cys504Arg) single nucleotide variant Inborn genetic diseases [RCV002865629] Chr20:62667782 [GRCh38]
Chr20:61299134 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1486G>A (p.Gly496Ser) single nucleotide variant Inborn genetic diseases [RCV002777893] Chr20:62667758 [GRCh38]
Chr20:61299110 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.578C>T (p.Thr193Met) single nucleotide variant Inborn genetic diseases [RCV002950813] Chr20:62657032 [GRCh38]
Chr20:61288384 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.853G>A (p.Ala285Thr) single nucleotide variant Inborn genetic diseases [RCV002976805] Chr20:62658733 [GRCh38]
Chr20:61290085 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1652G>A (p.Cys551Tyr) single nucleotide variant Inborn genetic diseases [RCV002782744] Chr20:62668025 [GRCh38]
Chr20:61299377 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.31C>T (p.Leu11Phe) single nucleotide variant Inborn genetic diseases [RCV002798272] Chr20:62656485 [GRCh38]
Chr20:61287837 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1675T>C (p.Ser559Pro) single nucleotide variant Inborn genetic diseases [RCV002798866] Chr20:62668048 [GRCh38]
Chr20:61299400 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.997C>T (p.Arg333Trp) single nucleotide variant Inborn genetic diseases [RCV002693625] Chr20:62660521 [GRCh38]
Chr20:61291873 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1483G>A (p.Glu495Lys) single nucleotide variant Inborn genetic diseases [RCV002782672] Chr20:62667755 [GRCh38]
Chr20:61299107 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.958G>A (p.Ala320Thr) single nucleotide variant Inborn genetic diseases [RCV002661425] Chr20:62660482 [GRCh38]
Chr20:61291834 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.580G>A (p.Ala194Thr) single nucleotide variant Inborn genetic diseases [RCV002893267] Chr20:62657034 [GRCh38]
Chr20:61288386 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.785C>T (p.Pro262Leu) single nucleotide variant Inborn genetic diseases [RCV002768143] Chr20:62657239 [GRCh38]
Chr20:61288591 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.812C>A (p.Ala271Glu) single nucleotide variant Inborn genetic diseases [RCV002872865] Chr20:62658692 [GRCh38]
Chr20:61290044 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.890C>G (p.Thr297Arg) single nucleotide variant Inborn genetic diseases [RCV002827615] Chr20:62660414 [GRCh38]
Chr20:61291766 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.2054C>A (p.Ala685Asp) single nucleotide variant Inborn genetic diseases [RCV002892754] Chr20:62671778 [GRCh38]
Chr20:61303130 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.250G>A (p.Val84Met) single nucleotide variant Inborn genetic diseases [RCV002645097] Chr20:62656704 [GRCh38]
Chr20:61288056 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1013C>T (p.Ser338Phe) single nucleotide variant Inborn genetic diseases [RCV002792750] Chr20:62661067 [GRCh38]
Chr20:61292419 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.640G>A (p.Ala214Thr) single nucleotide variant Inborn genetic diseases [RCV002669365] Chr20:62657094 [GRCh38]
Chr20:61288446 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1139T>C (p.Leu380Pro) single nucleotide variant Inborn genetic diseases [RCV003199099] Chr20:62664951 [GRCh38]
Chr20:61296303 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.337G>A (p.Ala113Thr) single nucleotide variant Inborn genetic diseases [RCV003209447] Chr20:62656791 [GRCh38]
Chr20:61288143 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1792G>A (p.Ala598Thr) single nucleotide variant Inborn genetic diseases [RCV003210098] Chr20:62668165 [GRCh38]
Chr20:61299517 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1594G>T (p.Ala532Ser) single nucleotide variant Inborn genetic diseases [RCV003208141] Chr20:62667866 [GRCh38]
Chr20:61299218 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.637G>A (p.Gly213Ser) single nucleotide variant Inborn genetic diseases [RCV003282065] Chr20:62657091 [GRCh38]
Chr20:61288443 [GRCh37]
Chr20:20q13.33		 likely benign
NM_016354.4(SLCO4A1):c.1349G>A (p.Arg450Gln) single nucleotide variant Inborn genetic diseases [RCV003180468] Chr20:62666452 [GRCh38]
Chr20:61297804 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.439A>G (p.Ser147Gly) single nucleotide variant Inborn genetic diseases [RCV003215425] Chr20:62656893 [GRCh38]
Chr20:61288245 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1037C>T (p.Ala346Val) single nucleotide variant Inborn genetic diseases [RCV003190511] Chr20:62661091 [GRCh38]
Chr20:61292443 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.398G>A (p.Arg133His) single nucleotide variant Inborn genetic diseases [RCV003193521] Chr20:62656852 [GRCh38]
Chr20:61288204 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.8T>A (p.Leu3Gln) single nucleotide variant Inborn genetic diseases [RCV003260025] Chr20:62656462 [GRCh38]
Chr20:61287814 [GRCh37]
Chr20:20q13.33		 likely benign
NM_016354.4(SLCO4A1):c.1358C>T (p.Ala453Val) single nucleotide variant Inborn genetic diseases [RCV003265022] Chr20:62666461 [GRCh38]
Chr20:61297813 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1 copy number loss Neurodevelopmental disorder [RCV003327727] Chr20:62632017..63794804 [GRCh38]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 copy number gain See cases [RCV003329549] Chr20:52773668..62965020 [GRCh37]
Chr20:20q13.2-13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1999A>G (p.Ile667Val) single nucleotide variant Inborn genetic diseases [RCV003364734] Chr20:62669052 [GRCh38]
Chr20:61300404 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1450G>A (p.Val484Ile) single nucleotide variant Inborn genetic diseases [RCV003349423] Chr20:62666553 [GRCh38]
Chr20:61297905 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1295C>T (p.Ala432Val) single nucleotide variant Inborn genetic diseases [RCV003367556] Chr20:62666398 [GRCh38]
Chr20:61297750 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_016354.4(SLCO4A1):c.1516G>A (p.Ala506Thr) single nucleotide variant Inborn genetic diseases [RCV003348446] Chr20:62667788 [GRCh38]
Chr20:61299140 [GRCh37]
Chr20:20q13.33		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2693
Count of miRNA genes:839
Interacting mature miRNAs:1001
Transcripts:ENST00000217159, ENST00000370507, ENST00000451793, ENST00000466818, ENST00000466961, ENST00000470412, ENST00000495889, ENST00000497209, ENST00000497919
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.

Markers in Region
RH65335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,284,402 - 61,284,560UniSTSGRCh37
Build 362060,754,847 - 60,755,005RGDNCBI36
Celera2057,960,305 - 57,960,463RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,001,973 - 58,002,131UniSTS
RH74808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,291,092 - 61,291,285UniSTSGRCh37
Build 362060,761,537 - 60,761,730RGDNCBI36
Celera2057,966,939 - 57,967,132RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,008,607 - 58,008,800UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 1775 1166 557 106 773 37 3422 1542 1801 212 591 1198 78 1144 2108 2
Low 653 1755 996 362 1112 272 920 639 1892 198 839 382 92 60 676 2
Below cutoff 4 62 163 147 56 147 12 11 11 8 17 23 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_016354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_244115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_244116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB031051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF104334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI660559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM846201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ969231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN060127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000217159   ⟹   ENSP00000217159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,642,503 - 62,672,293 (+)Ensembl
RefSeq Acc Id: ENST00000370507   ⟹   ENSP00000359538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,656,359 - 62,672,293 (+)Ensembl
RefSeq Acc Id: ENST00000451793   ⟹   ENSP00000414855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,667,813 - 62,672,293 (+)Ensembl
RefSeq Acc Id: ENST00000466818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,668,480 - 62,685,785 (+)Ensembl
RefSeq Acc Id: ENST00000466961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,667,741 - 62,672,154 (+)Ensembl
RefSeq Acc Id: ENST00000470412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,666,415 - 62,670,222 (+)Ensembl
RefSeq Acc Id: ENST00000495889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,667,478 - 62,672,607 (+)Ensembl
RefSeq Acc Id: ENST00000497209   ⟹   ENSP00000434245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,642,520 - 62,672,293 (+)Ensembl
RefSeq Acc Id: ENST00000497919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,668,419 - 62,670,118 (+)Ensembl
RefSeq Acc Id: NM_016354   ⟹   NP_057438
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,642,503 - 62,672,293 (+)NCBI
GRCh372061,273,795 - 61,317,137 (+)NCBI
Build 362060,744,242 - 60,774,092 (+)NCBI Archive
Celera2057,949,700 - 57,979,500 (+)RGD
HuRef2057,991,392 - 58,013,962 (+)NCBI
CHM1_12061,174,804 - 61,204,654 (+)NCBI
T2T-CHM13v2.02064,441,223 - 64,470,986 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260203   ⟹   XP_005260260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,642,503 - 62,690,740 (+)NCBI
GRCh372061,273,795 - 61,317,137 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528792   ⟹   XP_011527094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,642,503 - 62,677,339 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027827   ⟹   XP_016883316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,642,503 - 62,672,293 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440126   ⟹   XP_047296082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,642,503 - 62,667,910 (+)NCBI
RefSeq Acc Id: XM_054323380   ⟹   XP_054179355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,441,223 - 64,483,868 (+)NCBI
RefSeq Acc Id: XM_054323381   ⟹   XP_054179356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,441,377 - 64,483,868 (+)NCBI
RefSeq Acc Id: XM_054323382   ⟹   XP_054179357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,441,353 - 64,470,986 (+)NCBI
RefSeq Acc Id: XM_054323383   ⟹   XP_054179358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,441,223 - 64,470,986 (+)NCBI
RefSeq Acc Id: XM_054323384   ⟹   XP_054179359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,441,369 - 64,470,986 (+)NCBI
RefSeq Acc Id: XM_054323385   ⟹   XP_054179360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,441,223 - 64,489,475 (+)NCBI
RefSeq Acc Id: XM_054323386   ⟹   XP_054179361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,441,377 - 64,484,520 (+)NCBI
RefSeq Acc Id: XM_054323387   ⟹   XP_054179362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,441,223 - 64,466,605 (+)NCBI
RefSeq Acc Id: XR_001754251
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,642,503 - 62,690,740 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007067450
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,642,503 - 62,669,022 (+)NCBI
RefSeq Acc Id: XR_008485252
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,441,223 - 64,489,475 (+)NCBI
RefSeq Acc Id: XR_008485253
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,441,223 - 64,467,717 (+)NCBI
Protein Sequences
Protein RefSeqs NP_057438 (Get FASTA)   NCBI Sequence Viewer  
  XP_005260260 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527094 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883316 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296082 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179355 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179356 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179357 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179358 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179359 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179360 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179361 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179362 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF15545 (Get FASTA)   NCBI Sequence Viewer  
  AAG42204 (Get FASTA)   NCBI Sequence Viewer  
  AAG43447 (Get FASTA)   NCBI Sequence Viewer  
  AAH15727 (Get FASTA)   NCBI Sequence Viewer  
  BAA89288 (Get FASTA)   NCBI Sequence Viewer  
  BAA91247 (Get FASTA)   NCBI Sequence Viewer  
  BAB14566 (Get FASTA)   NCBI Sequence Viewer  
  CAI38412 (Get FASTA)   NCBI Sequence Viewer  
  CAX52187 (Get FASTA)   NCBI Sequence Viewer  
  EAW75348 (Get FASTA)   NCBI Sequence Viewer  
  EAW75349 (Get FASTA)   NCBI Sequence Viewer  
  EAW75350 (Get FASTA)   NCBI Sequence Viewer  
  EAW75351 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000217159
  ENSP00000217159.1
  ENSP00000359538.1
  ENSP00000414855.1
  ENSP00000434245
  ENSP00000434245.1
GenBank Protein Q96BD0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_057438   ⟸   NM_016354
- UniProtKB: Q9UI35 (UniProtKB/Swiss-Prot),   Q9NWX8 (UniProtKB/Swiss-Prot),   Q9H8P2 (UniProtKB/Swiss-Prot),   Q9H4T8 (UniProtKB/Swiss-Prot),   Q9H4T7 (UniProtKB/Swiss-Prot),   Q9UIG7 (UniProtKB/Swiss-Prot),   Q96BD0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005260260   ⟸   XM_005260203
- Peptide Label: isoform X3
- UniProtKB: E1P5H9 (UniProtKB/TrEMBL),   H0UI88 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527094   ⟸   XM_011528792
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016883316   ⟸   XM_017027827
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000359538   ⟸   ENST00000370507
RefSeq Acc Id: ENSP00000414855   ⟸   ENST00000451793
RefSeq Acc Id: ENSP00000217159   ⟸   ENST00000217159
RefSeq Acc Id: ENSP00000434245   ⟸   ENST00000497209
RefSeq Acc Id: XP_047296082   ⟸   XM_047440126
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054179360   ⟸   XM_054323385
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054179355   ⟸   XM_054323380
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054179358   ⟸   XM_054323383
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054179362   ⟸   XM_054323387
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054179357   ⟸   XM_054323382
- Peptide Label: isoform X5
- UniProtKB: Q9UI35 (UniProtKB/Swiss-Prot),   Q9NWX8 (UniProtKB/Swiss-Prot),   Q9H8P2 (UniProtKB/Swiss-Prot),   Q9H4T8 (UniProtKB/Swiss-Prot),   Q9H4T7 (UniProtKB/Swiss-Prot),   Q96BD0 (UniProtKB/Swiss-Prot),   Q9UIG7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054179359   ⟸   XM_054323384
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054179361   ⟸   XM_054323386
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054179356   ⟸   XM_054323381
- Peptide Label: isoform X1
Protein Domains
Kazal-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96BD0-F1-model_v2 AlphaFold Q96BD0 1-722 view protein structure

Promoters
RGD ID:6798679
Promoter ID:HG_KWN:40106
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370512,   NM_016354,   OTTHUMT00000080047
Position:
Human AssemblyChrPosition (strand)Source
Build 362060,743,956 - 60,744,456 (+)MPROMDB
RGD ID:6798691
Promoter ID:HG_KWN:40108
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:ENST00000342674,   ENST00000370507,   UC002YDC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362060,757,591 - 60,758,872 (+)MPROMDB
RGD ID:6799100
Promoter ID:HG_KWN:40111
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000080043,   OTTHUMT00000080045,   UC002YDE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362060,768,691 - 60,769,642 (+)MPROMDB
RGD ID:6799076
Promoter ID:HG_KWN:40112
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000080044,   OTTHUMT00000080050
Position:
Human AssemblyChrPosition (strand)Source
Build 362060,769,891 - 60,770,391 (+)MPROMDB
RGD ID:13602334
Promoter ID:EPDNEW_H27351
Type:initiation region
Name:SLCO4A1_1
Description:solute carrier organic anion transporter family member 4A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27352  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,642,503 - 62,642,563EPDNEW
RGD ID:13602336
Promoter ID:EPDNEW_H27352
Type:initiation region
Name:SLCO4A1_2
Description:solute carrier organic anion transporter family member 4A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27351  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,656,449 - 62,656,509EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10953 AgrOrtholog
COSMIC SLCO4A1 COSMIC
Ensembl Genes ENSG00000101187 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000217159 ENTREZGENE
  ENST00000217159.6 UniProtKB/Swiss-Prot
  ENST00000370507.5 UniProtKB/Swiss-Prot
  ENST00000451793.1 UniProtKB/TrEMBL
  ENST00000497209 ENTREZGENE
  ENST00000497209.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.60.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101187 GTEx
HGNC ID HGNC:10953 ENTREZGENE
Human Proteome Map SLCO4A1 Human Proteome Map
InterPro Kazal_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kazal_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_dom UniProtKB/Swiss-Prot
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SO4A1-like UniProtKB/Swiss-Prot
KEGG Report hsa:28231 UniProtKB/Swiss-Prot
NCBI Gene 28231 ENTREZGENE
OMIM 612436 OMIM
PANTHER PTHR11388 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY MEMBER 4A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kazal_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35838 PharmGKB
PROSITE KAZAL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF100895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MT51_HUMAN UniProtKB/TrEMBL
  E1P5H9 ENTREZGENE, UniProtKB/TrEMBL
  H0UI88 ENTREZGENE
  Q96BD0 ENTREZGENE
  Q9H4T7 ENTREZGENE
  Q9H4T8 ENTREZGENE
  Q9H8P2 ENTREZGENE
  Q9NWX8 ENTREZGENE
  Q9UI35 ENTREZGENE
  Q9UIG7 ENTREZGENE
  SO4A1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary H0UI88 UniProtKB/TrEMBL
  Q9H4T7 UniProtKB/Swiss-Prot
  Q9H4T8 UniProtKB/Swiss-Prot
  Q9H8P2 UniProtKB/Swiss-Prot
  Q9NWX8 UniProtKB/Swiss-Prot
  Q9UI35 UniProtKB/Swiss-Prot
  Q9UIG7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 SLCO4A1  solute carrier organic anion transporter family member 4A1    solute carrier organic anion transporter family, member 4A1  Symbol and/or name change 5135510 APPROVED