SLC15A4 (solute carrier family 15 member 4) - Rat Genome Database

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Gene: SLC15A4 (solute carrier family 15 member 4) Homo sapiens
Analyze
Symbol: SLC15A4
Name: solute carrier family 15 member 4
RGD ID: 733038
HGNC Page HGNC:23090
Description: Enables several functions, including L-histidine transmembrane transporter activity; peptide:proton symporter activity; and peptidoglycan transmembrane transporter activity. Involved in dipeptide import across plasma membrane; peptidoglycan transport; and positive regulation of pattern recognition receptor signaling pathway. Located in endolysosome membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FP12591; hPHT1; peptide transporter 4; peptide-histidine transporter 4; peptide/histidine transporter; peptide/histidine transporter 1; PHT1; PTR4; solute carrier family 15 (oligopeptide transporter), member 4; solute carrier family 15, member 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812128,793,194 - 128,823,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12128,793,194 - 128,823,958 (-)EnsemblGRCh38hg38GRCh38
GRCh3712129,277,739 - 129,308,503 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612127,843,713 - 127,874,494 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412127,802,644 - 127,833,421NCBI
Celera12128,891,861 - 128,922,740 (-)NCBICelera
Cytogenetic Map12q24.33NCBI
HuRef12126,263,573 - 126,285,425 (-)NCBIHuRef
CHM1_112129,098,609 - 129,129,417 (-)NCBICHM1_1
T2T-CHM13v2.012128,825,188 - 128,855,979 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11741232   PMID:12477932   PMID:12905028   PMID:14702039   PMID:16289537   PMID:18259684   PMID:19838193   PMID:20379614   PMID:20516000   PMID:21366347   PMID:21873635   PMID:22810586  
PMID:22950754   PMID:23273568   PMID:23362303   PMID:23864651   PMID:24091983   PMID:24695226   PMID:25034154   PMID:25238095   PMID:26186194   PMID:27362648   PMID:28298427   PMID:28514442  
PMID:28597972   PMID:29224352   PMID:29261175   PMID:31073693   PMID:31586073   PMID:32433612   PMID:33560415   PMID:33845483   PMID:33961781   PMID:35271311   PMID:35562597   PMID:36361959  
PMID:37610621   PMID:37863876   PMID:37863913  


Genomics

Comparative Map Data
SLC15A4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812128,793,194 - 128,823,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12128,793,194 - 128,823,958 (-)EnsemblGRCh38hg38GRCh38
GRCh3712129,277,739 - 129,308,503 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612127,843,713 - 127,874,494 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412127,802,644 - 127,833,421NCBI
Celera12128,891,861 - 128,922,740 (-)NCBICelera
Cytogenetic Map12q24.33NCBI
HuRef12126,263,573 - 126,285,425 (-)NCBIHuRef
CHM1_112129,098,609 - 129,129,417 (-)NCBICHM1_1
T2T-CHM13v2.012128,825,188 - 128,855,979 (-)NCBIT2T-CHM13v2.0
Slc15a4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395127,668,795 - 127,710,356 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5127,672,728 - 127,709,961 (-)EnsemblGRCm39 Ensembl
GRCm385127,594,545 - 127,633,292 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5127,595,664 - 127,632,897 (-)EnsemblGRCm38mm10GRCm38
MGSCv375128,076,036 - 128,097,762 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365127,884,869 - 127,906,595 (-)NCBIMGSCv36mm8
Celera5124,625,149 - 124,646,865 (-)NCBICelera
Cytogenetic Map5G1.2NCBI
cM Map566.0NCBI
Slc15a4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81234,684,583 - 34,718,429 (+)NCBIGRCr8
mRatBN7.21229,048,634 - 29,082,480 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1229,063,015 - 29,082,480 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1230,198,626 - 30,218,177 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01230,810,079 - 30,829,630 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01229,869,246 - 29,888,797 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01232,753,824 - 32,773,277 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1232,753,824 - 32,773,277 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01234,660,965 - 34,680,418 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41230,111,863 - 30,131,134 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11229,975,250 - 29,994,522 (+)NCBI
Celera1230,749,254 - 30,768,706 (+)NCBICelera
Cytogenetic Map12q14NCBI
Slc15a4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554822,327,137 - 2,343,980 (+)NCBIChiLan1.0ChiLan1.0
SLC15A4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210136,865,833 - 136,896,753 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112136,862,353 - 136,893,242 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012126,418,071 - 126,448,917 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112130,639,525 - 130,669,822 (-)NCBIpanpan1.1PanPan1.1panPan2
SLC15A4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1262,803,798 - 2,832,057 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl262,802,724 - 2,831,530 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha263,006,941 - 3,035,199 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0263,056,487 - 3,084,750 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl263,056,499 - 3,084,223 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1262,988,152 - 3,015,703 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0263,086,221 - 3,113,814 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0262,996,157 - 3,024,420 (+)NCBIUU_Cfam_GSD_1.0
Slc15a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118124,227,513 - 124,239,308 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936660481,772 - 493,567 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC15A4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1426,122,386 - 26,154,781 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11426,122,362 - 26,154,414 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21427,770,845 - 27,803,186 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC15A4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111124,170,785 - 124,204,358 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11124,169,732 - 124,204,200 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037121,090,609 - 121,123,572 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc15a4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474726,252,492 - 26,275,173 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474726,252,788 - 26,275,273 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC15A4
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1 copy number loss See cases [RCV000051345] Chr12:122985202..130714574 [GRCh38]
Chr12:123469749..131199119 [GRCh37]
Chr12:122035702..129765072 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3 copy number gain See cases [RCV000051151] Chr12:123444758..133191400 [GRCh38]
Chr12:123929305..133767986 [GRCh37]
Chr12:122495258..132278059 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3 copy number gain See cases [RCV000053715] Chr12:126403612..133166920 [GRCh38]
Chr12:126888158..133743506 [GRCh37]
Chr12:125454111..132253579 [NCBI36]
Chr12:12q24.32-24.33		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123365769-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|See cases [RCV000053693] Chr12:123365769..133191400 [GRCh38]
Chr12:123850316..133767986 [GRCh37]
Chr12:122416269..132278059 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3 copy number gain See cases [RCV000135535] Chr12:123509825..133191400 [GRCh38]
Chr12:123994372..133767986 [GRCh37]
Chr12:122560325..132278059 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.32-24.33(chr12:127900499-129778294)x3 copy number gain See cases [RCV000137094] Chr12:127900499..129778294 [GRCh38]
Chr12:128385044..130262839 [GRCh37]
Chr12:126950997..128828792 [NCBI36]
Chr12:12q24.32-24.33		 uncertain significance
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.32-24.33(chr12:128510404-129187569)x4 copy number gain See cases [RCV000138935] Chr12:128510404..129187569 [GRCh38]
Chr12:128994949..129672114 [GRCh37]
Chr12:127560902..128238067 [NCBI36]
Chr12:12q24.32-24.33		 uncertain significance
GRCh38/hg38 12q24.32-24.33(chr12:128487318-129325819)x3 copy number gain See cases [RCV000139896] Chr12:128487318..129325819 [GRCh38]
Chr12:128971863..129810364 [GRCh37]
Chr12:127537816..128376317 [NCBI36]
Chr12:12q24.32-24.33		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_145648.4(SLC15A4):c.1504G>T (p.Val502Leu) single nucleotide variant not specified [RCV004304228] Chr12:128799328 [GRCh38]
Chr12:129283873 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1385G>A (p.Gly462Glu) single nucleotide variant not specified [RCV004321359] Chr12:128800883 [GRCh38]
Chr12:129285428 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.413T>C (p.Leu138Pro) single nucleotide variant not specified [RCV004321403] Chr12:128823531 [GRCh38]
Chr12:129308076 [GRCh37]
Chr12:12q24.33		 uncertain significance
Single allele deletion not provided [RCV000678006] Chr12:126890818..129898639 [GRCh37]
Chr12:12q24.32-24.33		 uncertain significance
GRCh37/hg19 12q24.32-24.33(chr12:129156032-129684048)x3 copy number gain not provided [RCV000709793] Chr12:129156032..129684048 [GRCh37]
Chr12:12q24.32-24.33		 not provided
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q24.32(chr12:129249070-129278864)x3 copy number gain not provided [RCV000738084] Chr12:129249070..129278864 [GRCh37]
Chr12:12q24.32		 benign
GRCh37/hg19 12q24.32-24.33(chr12:129262387-129304369)x3 copy number gain not provided [RCV000738085] Chr12:129262387..129304369 [GRCh37]
Chr12:12q24.32-24.33		 benign
GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935) copy number gain not provided [RCV000767827] Chr12:125451405..133810935 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
GRCh37/hg19 12q24.32-24.33(chr12:128503810-130456374)x1 copy number loss not provided [RCV000847968] Chr12:128503810..130456374 [GRCh37]
Chr12:12q24.32-24.33		 uncertain significance
GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1 copy number loss not provided [RCV000848702] Chr12:126470636..133777902 [GRCh37]
Chr12:12q24.32-24.33		 uncertain significance
GRCh37/hg19 12q24.32-24.33(chr12:129299049-129628826)x3 copy number gain not provided [RCV000846423] Chr12:129299049..129628826 [GRCh37]
Chr12:12q24.32-24.33		 uncertain significance
NM_145648.4(SLC15A4):c.943G>A (p.Val315Met) single nucleotide variant not specified [RCV004294984] Chr12:128810011 [GRCh38]
Chr12:129294556 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12q24.32-24.33(chr12:129014884-129818338)x3 copy number gain See cases [RCV001007430] Chr12:129014884..129818338 [GRCh37]
Chr12:12q24.32-24.33		 uncertain significance
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33		 likely pathogenic
NM_145648.4(SLC15A4):c.226G>A (p.Glu76Lys) single nucleotide variant not specified [RCV004109787] Chr12:128823718 [GRCh38]
Chr12:129308263 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.304C>T (p.Arg102Trp) single nucleotide variant not specified [RCV004238310] Chr12:128823640 [GRCh38]
Chr12:129308185 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1421A>G (p.Glu474Gly) single nucleotide variant not specified [RCV004115433] Chr12:128799411 [GRCh38]
Chr12:129283956 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1504G>A (p.Val502Met) single nucleotide variant not specified [RCV004127120] Chr12:128799328 [GRCh38]
Chr12:129283873 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1622C>T (p.Ala541Val) single nucleotide variant not specified [RCV004141191] Chr12:128794308 [GRCh38]
Chr12:129278853 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1706A>G (p.Asn569Ser) single nucleotide variant not specified [RCV004107979] Chr12:128794224 [GRCh38]
Chr12:129278769 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.736G>A (p.Val246Ile) single nucleotide variant not specified [RCV004095336] Chr12:128814881 [GRCh38]
Chr12:129299426 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.302G>C (p.Gly101Ala) single nucleotide variant not specified [RCV004095764] Chr12:128823642 [GRCh38]
Chr12:129308187 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1727G>A (p.Arg576Lys) single nucleotide variant not specified [RCV004239719] Chr12:128794203 [GRCh38]
Chr12:129278748 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.736G>T (p.Val246Phe) single nucleotide variant not specified [RCV004173760] Chr12:128814881 [GRCh38]
Chr12:129299426 [GRCh37]
Chr12:12q24.33		 likely benign
NM_145648.4(SLC15A4):c.1342G>A (p.Asp448Asn) single nucleotide variant not specified [RCV004211095] Chr12:128800926 [GRCh38]
Chr12:129285471 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.440A>C (p.Asp147Ala) single nucleotide variant not specified [RCV004196054] Chr12:128823504 [GRCh38]
Chr12:129308049 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.679G>T (p.Ala227Ser) single nucleotide variant not specified [RCV004113236] Chr12:128814938 [GRCh38]
Chr12:129299483 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1692G>C (p.Gln564His) single nucleotide variant not specified [RCV004151058] Chr12:128794238 [GRCh38]
Chr12:129278783 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1171A>G (p.Ile391Val) single nucleotide variant not specified [RCV004104592] Chr12:128808875 [GRCh38]
Chr12:129293420 [GRCh37]
Chr12:12q24.33		 likely benign
NM_145648.4(SLC15A4):c.308C>T (p.Ala103Val) single nucleotide variant not specified [RCV004088050] Chr12:128823636 [GRCh38]
Chr12:129308181 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.224G>A (p.Ser75Asn) single nucleotide variant not provided [RCV003331494] Chr12:128823720 [GRCh38]
Chr12:129308265 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.13G>A (p.Gly5Arg) single nucleotide variant not specified [RCV004350220] Chr12:128823931 [GRCh38]
Chr12:129308476 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3 copy number gain not provided [RCV003484881] Chr12:121551496..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 copy number gain not provided [RCV003484880] Chr12:120880079..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
NM_145648.4(SLC15A4):c.1417C>A (p.Leu473Met) single nucleotide variant not specified [RCV004448407] Chr12:128799415 [GRCh38]
Chr12:129283960 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.961A>G (p.Ile321Val) single nucleotide variant not specified [RCV004448413] Chr12:128809993 [GRCh38]
Chr12:129294538 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1694G>C (p.Arg565Pro) single nucleotide variant not specified [RCV004448409] Chr12:128794236 [GRCh38]
Chr12:129278781 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.368T>A (p.Leu123Gln) single nucleotide variant not specified [RCV004448411] Chr12:128823576 [GRCh38]
Chr12:129308121 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1450A>G (p.Met484Val) single nucleotide variant not specified [RCV004448408] Chr12:128799382 [GRCh38]
Chr12:129283927 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.439G>C (p.Asp147His) single nucleotide variant not specified [RCV004448412] Chr12:128823505 [GRCh38]
Chr12:129308050 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.367C>G (p.Leu123Val) single nucleotide variant not specified [RCV004670121] Chr12:128823577 [GRCh38]
Chr12:129308122 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.557G>C (p.Arg186Pro) single nucleotide variant not specified [RCV004676523] Chr12:128815060 [GRCh38]
Chr12:129299605 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_145648.4(SLC15A4):c.1709G>A (p.Gly570Asp) single nucleotide variant not specified [RCV004676524] Chr12:128794221 [GRCh38]
Chr12:129278766 [GRCh37]
Chr12:12q24.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2598
Count of miRNA genes:981
Interacting mature miRNAs:1140
Transcripts:ENST00000266771, ENST00000366292, ENST00000376740, ENST00000376744, ENST00000535272, ENST00000539703, ENST00000544112, ENST00000545031
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
597057394GWAS1153468_Hbasophil count QTL GWAS1153468 (human)2e-10basophil quantity (VT:0002607)blood basophil count (CMO:0000034)12128817710128817711Human
597190557GWAS1286631_Hsystemic lupus erythematosus QTL GWAS1286631 (human)2e-22systemic lupus erythematosus12128816149128816150Human
406909223GWAS558199_Hsystemic lupus erythematosus QTL GWAS558199 (human)0.000003systemic lupus erythematosus12128794319128794320Human
597062193GWAS1158267_Hsystemic lupus erythematosus QTL GWAS1158267 (human)1e-13systemic lupus erythematosus12128794319128794320Human
406910124GWAS559100_Hsystemic lupus erythematosus QTL GWAS559100 (human)8e-08systemic lupus erythematosus12128816149128816150Human
597058425GWAS1154499_Hbasophil percentage of leukocytes QTL GWAS1154499 (human)5e-17basophil percentage of leukocytesblood basophil count to total leukocyte count ratio (CMO:0000368)12128817710128817711Human
597254569GWAS1350643_Hsystemic lupus erythematosus QTL GWAS1350643 (human)5e-08systemic lupus erythematosus12128814840128814841Human
597056071GWAS1152145_Hbasophil count QTL GWAS1152145 (human)3e-13basophil quantity (VT:0002607)blood basophil count (CMO:0000034)12128817710128817711Human
597190346GWAS1286420_Hsystemic lupus erythematosus QTL GWAS1286420 (human)1e-12systemic lupus erythematosus12128797293128797294Human
406910421GWAS559397_Hsystemic lupus erythematosus QTL GWAS559397 (human)2e-11systemic lupus erythematosus12128816149128816150Human
597478986GWAS1575060_Hsystemic lupus erythematosus QTL GWAS1575060 (human)2e-08systemic lupus erythematosus12128809788128809789Human
597217775GWAS1313849_Hbody height QTL GWAS1313849 (human)4e-16body height (VT:0001253)body height (CMO:0000106)12128797293128797294Human
597062158GWAS1158232_Hsystemic lupus erythematosus QTL GWAS1158232 (human)8e-09systemic lupus erythematosus12128804645128804646Human
406908442GWAS557418_Hsystemic lupus erythematosus QTL GWAS557418 (human)0.000002systemic lupus erythematosus12128794319128794320Human
597117323GWAS1213397_Hsystemic lupus erythematosus QTL GWAS1213397 (human)7e-10systemic lupus erythematosus12128794319128794320Human
597140841GWAS1236915_Htrait in response to apixaban QTL GWAS1236915 (human)7e-08trait in response to apixaban12128797091128797092Human
597098152GWAS1194226_Hsystemic lupus erythematosus QTL GWAS1194226 (human)2e-30systemic lupus erythematosus12128811558128811559Human

Markers in Region
RH102313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712129,278,509 - 129,278,638UniSTSGRCh37
Build 3612127,844,462 - 127,844,591RGDNCBI36
Celera12128,892,632 - 128,892,761RGD
Cytogenetic Map12q24.32UniSTS
HuRef12126,264,343 - 126,264,472UniSTS
GeneMap99-GB4 RH Map12498.06UniSTS
SGC31722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712129,277,768 - 129,277,893UniSTSGRCh37
Build 3612127,843,721 - 127,843,846RGDNCBI36
Celera12128,891,890 - 128,892,015RGD
Cytogenetic Map12q24.32UniSTS
HuRef12126,263,602 - 126,263,727UniSTS
GeneMap99-GB4 RH Map12488.97UniSTS
Whitehead-RH Map12617.0UniSTS
NCBI RH Map12785.4UniSTS
SGC30248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712129,283,363 - 129,283,463UniSTSGRCh37
Build 3612127,849,316 - 127,849,416RGDNCBI36
Celera12128,897,487 - 128,897,587RGD
Cytogenetic Map12q24.32UniSTS
HuRef12126,269,187 - 126,269,287UniSTS
GeneMap99-GB4 RH Map12487.8UniSTS
Whitehead-RH Map12603.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2245 4945 1723 2345 4 622 1948 464 2268 7281 6454 52 3711 847 1731 1612 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_145648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_944496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_944497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF461893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY038999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY050629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000266771   ⟹   ENSP00000266771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12128,793,194 - 128,823,958 (-)Ensembl
Ensembl Acc Id: ENST00000366292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12128,800,807 - 128,815,928 (-)Ensembl
Ensembl Acc Id: ENST00000376740   ⟹   ENSP00000365930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12128,808,806 - 128,823,522 (-)Ensembl
Ensembl Acc Id: ENST00000376744   ⟹   ENSP00000365935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12128,793,195 - 128,823,779 (-)Ensembl
Ensembl Acc Id: ENST00000535272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12128,814,960 - 128,819,867 (-)Ensembl
Ensembl Acc Id: ENST00000539703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12128,809,081 - 128,823,593 (-)Ensembl
Ensembl Acc Id: ENST00000544112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12128,794,173 - 128,810,358 (-)Ensembl
Ensembl Acc Id: ENST00000545031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12128,793,895 - 128,801,701 (-)Ensembl
RefSeq Acc Id: NM_145648   ⟹   NP_663623
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812128,793,194 - 128,823,958 (-)NCBI
GRCh3712129,277,739 - 129,308,541 (-)RGD
Build 3612127,843,713 - 127,874,494 (-)NCBI Archive
Celera12128,891,861 - 128,922,740 (-)RGD
HuRef12126,263,573 - 126,285,425 (-)RGD
CHM1_112129,098,609 - 129,129,417 (-)NCBI
T2T-CHM13v2.012128,825,188 - 128,855,939 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537895   ⟹   XP_011536197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812128,793,194 - 128,823,958 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428283   ⟹   XP_047284239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812128,809,415 - 128,823,958 (-)NCBI
RefSeq Acc Id: XM_054371064   ⟹   XP_054227039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012128,825,188 - 128,855,979 (-)NCBI
RefSeq Acc Id: XM_054371065   ⟹   XP_054227040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012128,841,421 - 128,855,939 (-)NCBI
RefSeq Acc Id: XR_007063043
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812128,793,194 - 128,823,958 (-)NCBI
RefSeq Acc Id: XR_007063044
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812128,793,194 - 128,823,958 (-)NCBI
RefSeq Acc Id: XR_007063045
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812128,793,194 - 128,820,007 (-)NCBI
RefSeq Acc Id: XR_007063046
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812128,809,415 - 128,823,958 (-)NCBI
RefSeq Acc Id: XR_008488525
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012128,825,188 - 128,855,939 (-)NCBI
RefSeq Acc Id: XR_008488526
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012128,825,188 - 128,855,939 (-)NCBI
RefSeq Acc Id: XR_008488527
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012128,841,421 - 128,855,939 (-)NCBI
RefSeq Acc Id: NP_663623   ⟸   NM_145648
- UniProtKB: Q8N697 (UniProtKB/Swiss-Prot),   Q7Z5F8 (UniProtKB/Swiss-Prot),   Q71M34 (UniProtKB/Swiss-Prot),   B3KTK1 (UniProtKB/Swiss-Prot),   A6H8Y9 (UniProtKB/Swiss-Prot),   Q8TAH0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536197   ⟸   XM_011537895
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000266771   ⟸   ENST00000266771
Ensembl Acc Id: ENSP00000365930   ⟸   ENST00000376740
Ensembl Acc Id: ENSP00000365935   ⟸   ENST00000376744
RefSeq Acc Id: XP_047284239   ⟸   XM_047428283
- Peptide Label: isoform X2
- UniProtKB: H7BYB7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227039   ⟸   XM_054371064
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227040   ⟸   XM_054371065
- Peptide Label: isoform X2
- UniProtKB: H7BYB7 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N697-F1-model_v2 AlphaFold Q8N697 1-577 view protein structure

Promoters
RGD ID:6810411
Promoter ID:HG_ACW:19750
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SLC15A4.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3612127,861,186 - 127,861,686 (-)MPROMDB
RGD ID:6810415
Promoter ID:HG_ACW:19751
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SLC15A4.KAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3612127,870,336 - 127,870,836 (-)MPROMDB
RGD ID:6789949
Promoter ID:HG_KWN:17030
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:ENST00000376740,   ENST00000376744
Position:
Human AssemblyChrPosition (strand)Source
Build 3612127,874,116 - 127,875,237 (-)MPROMDB
RGD ID:7225849
Promoter ID:EPDNEW_H18668
Type:initiation region
Name:SLC15A4_1
Description:solute carrier family 15 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
GRCh3812128,823,958 - 128,824,018EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23090 AgrOrtholog
COSMIC SLC15A4 COSMIC
Ensembl Genes ENSG00000139370 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000266771 ENTREZGENE
  ENST00000266771.10 UniProtKB/Swiss-Prot
  ENST00000376740.8 UniProtKB/TrEMBL
  ENST00000376744 ENTREZGENE
  ENST00000376744.8 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139370 GTEx
HGNC ID HGNC:23090 ENTREZGENE
Human Proteome Map SLC15A4 Human Proteome Map
InterPro MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POT_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTR2_symporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:121260 UniProtKB/Swiss-Prot
NCBI Gene 121260 ENTREZGENE
OMIM 615806 OMIM
PANTHER PTHR11654 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PTR2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134928948 PharmGKB
PROSITE PTR2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6H8Y9 ENTREZGENE
  B3KTK1 ENTREZGENE
  B6ZDF2_HUMAN UniProtKB/TrEMBL
  H7BYB7 ENTREZGENE, UniProtKB/TrEMBL
  Q71M34 ENTREZGENE
  Q7Z5F8 ENTREZGENE
  Q8N697 ENTREZGENE
  Q8TAH0 ENTREZGENE
  S15A4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6H8Y9 UniProtKB/Swiss-Prot
  B3KTK1 UniProtKB/Swiss-Prot
  Q71M34 UniProtKB/Swiss-Prot
  Q7Z5F8 UniProtKB/Swiss-Prot
  Q8TAH0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC15A4  solute carrier family 15 member 4    solute carrier family 15 (oligopeptide transporter), member 4  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC15A4  solute carrier family 15 (oligopeptide transporter), member 4    solute carrier family 15, member 4  Symbol and/or name change 5135510 APPROVED