SLC43A2 (solute carrier family 43 member 2) - Rat Genome Database
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Gene: SLC43A2 (solute carrier family 43 member 2) Homo sapiens
Analyze
Symbol: SLC43A2
Name: solute carrier family 43 member 2
RGD ID: 1350504
HGNC Page HGNC
Description: Predicted to have L-amino acid transmembrane transporter activity and neutral amino acid transmembrane transporter activity. Involved in negative regulation of leucine import. Predicted to localize to plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: amino acid transporter; FLJ23848; L-type amino acid transporter 4; large neutral amino acids transporter small subunit 4; LAT4; MGC34680; solute carrier family 43 (amino acid system L transporter), member 2; solute carrier family 43, member 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl171,569,268 - 1,628,886 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl171,569,267 - 1,628,886 (-)EnsemblGRCh38hg38GRCh38
GRCh38171,569,254 - 1,630,014 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37171,477,678 - 1,532,130 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37171,472,548 - 1,532,128 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36171,424,446 - 1,478,880 (-)NCBINCBI36hg18NCBI36
Build 34171,424,445 - 1,478,880NCBI
Celera171,493,130 - 1,547,478 (-)NCBI
Cytogenetic Map17p13.3NCBI
HuRef171,377,342 - 1,431,478 (-)NCBIHuRef
CHM1_1171,481,308 - 1,540,959 (-)NCBICHM1_1
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

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15659399   PMID:16303743   PMID:18195088   PMID:19322201   PMID:19913121   PMID:20379614   PMID:20628086   PMID:21224231   PMID:21873635   PMID:23268354  
PMID:25416956   PMID:26305885   PMID:28298427   PMID:28514442   PMID:29117863   PMID:32296183   PMID:32879489  


Genomics

Comparative Map Data
SLC43A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl171,569,268 - 1,628,886 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl171,569,267 - 1,628,886 (-)EnsemblGRCh38hg38GRCh38
GRCh38171,569,254 - 1,630,014 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37171,477,678 - 1,532,130 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37171,472,548 - 1,532,128 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36171,424,446 - 1,478,880 (-)NCBINCBI36hg18NCBI36
Build 34171,424,445 - 1,478,880NCBI
Celera171,493,130 - 1,547,478 (-)NCBI
Cytogenetic Map17p13.3NCBI
HuRef171,377,342 - 1,431,478 (-)NCBIHuRef
CHM1_1171,481,308 - 1,540,959 (-)NCBICHM1_1
Slc43a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,420,741 - 75,468,401 (+)NCBIGRCm39mm39
GRCm381175,529,915 - 75,577,575 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,531,694 - 75,577,575 (+)EnsemblGRCm38mm10GRCm38
MGSCv371175,345,210 - 75,388,543 (+)NCBIGRCm37mm9NCBIm37
MGSCv361175,347,903 - 75,391,236 (+)NCBImm8
Celera1183,040,687 - 83,084,024 (+)NCBICelera
Cytogenetic Map11B5NCBI
Slc43a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21060,375,462 - 60,420,838 (+)NCBI
Rnor_6.0 Ensembl1063,677,396 - 63,719,283 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01063,676,317 - 63,719,283 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01064,285,713 - 64,328,683 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41062,853,094 - 62,894,776 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11062,867,612 - 62,905,728 (+)NCBI
Celera1059,404,785 - 59,446,467 (+)NCBICelera
Cytogenetic Map10q24NCBI
Slc43a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554811,550,289 - 1,595,942 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554811,550,289 - 1,597,213 (+)NCBIChiLan1.0ChiLan1.0
SLC43A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1171,455,767 - 1,508,437 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl171,455,767 - 1,508,443 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0171,557,305 - 1,612,968 (-)NCBIMhudiblu_PPA_v0panPan3
SLC43A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl945,736,508 - 45,776,270 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1945,731,379 - 45,777,277 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Slc43a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365387,712,564 - 7,758,069 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC43A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1247,791,911 - 47,838,946 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11247,791,911 - 47,839,127 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21249,676,753 - 49,724,924 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC43A2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1161,247,383 - 1,300,012 (-)NCBI
ChlSab1.1 Ensembl161,244,913 - 1,299,519 (-)Ensembl
Slc43a2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247864,284,559 - 4,334,086 (-)NCBI

Position Markers
D16S3107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,482,420 - 1,482,894UniSTSGRCh37
GRCh371667,657,938 - 67,658,231UniSTSGRCh37
Build 361666,215,439 - 66,215,732RGDNCBI36
Celera1652,166,423 - 52,166,720RGD
Celera171,497,851 - 1,498,323UniSTS
HuRef1653,530,474 - 53,530,771UniSTS
HuRef171,381,834 - 1,382,308UniSTS
Marshfield Genetic Map1685.94RGD
Marshfield Genetic Map1685.94UniSTS
Genethon Genetic Map1684.4UniSTS
STS-F09512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,477,698 - 1,477,829UniSTSGRCh37
Build 36171,424,448 - 1,424,579RGDNCBI36
Celera171,493,132 - 1,493,263RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,377,344 - 1,377,475UniSTS
GeneMap99-GB4 RH Map1722.57UniSTS
NCBI RH Map1740.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7707
Count of miRNA genes:1292
Interacting mature miRNAs:1717
Transcripts:ENST00000301335, ENST00000382147, ENST00000412517, ENST00000571376, ENST00000571650, ENST00000572135, ENST00000572801, ENST00000574274, ENST00000574743, ENST00000575944, ENST00000576537, ENST00000576721, ENST00000576769
Prediction methods:Microtar, Miranda, Pita, 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 289 882 663 79 1419 22 1140 559 1583 293 199 1067 60 395 977 3
Low 2149 2027 979 462 523 359 3207 1561 2134 125 1254 544 114 1 809 1809 2 2
Below cutoff 80 84 83 8 84 9 75 16 1 7 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001284498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_933972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB120364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC130343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF289592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK005642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC381982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY089501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY154071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N26925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000301335   ⟹   ENSP00000301335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,569,268 - 1,628,834 (-)Ensembl
RefSeq Acc Id: ENST00000412517   ⟹   ENSP00000408284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,575,501 - 1,605,085 (-)Ensembl
RefSeq Acc Id: ENST00000571376   ⟹   ENSP00000461553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,591,622 - 1,627,911 (-)Ensembl
RefSeq Acc Id: ENST00000571650   ⟹   ENSP00000461382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,574,372 - 1,628,341 (-)Ensembl
RefSeq Acc Id: ENST00000572135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,585,239 - 1,628,250 (-)Ensembl
RefSeq Acc Id: ENST00000572801   ⟹   ENSP00000461298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,590,850 - 1,628,840 (-)Ensembl
RefSeq Acc Id: ENST00000574274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,590,907 - 1,605,276 (-)Ensembl
RefSeq Acc Id: ENST00000574743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,585,239 - 1,628,886 (-)Ensembl
RefSeq Acc Id: ENST00000575944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,616,366 - 1,627,799 (-)Ensembl
RefSeq Acc Id: ENST00000576537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,576,603 - 1,578,705 (-)Ensembl
RefSeq Acc Id: ENST00000576721   ⟹   ENSP00000460388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,591,440 - 1,604,944 (-)Ensembl
RefSeq Acc Id: ENST00000576769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,578,254 - 1,583,698 (-)Ensembl
RefSeq Acc Id: NM_001284498   ⟹   NP_001271427
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,569,268 - 1,628,416 (-)NCBI
HuRef171,372,193 - 1,431,528 (-)NCBI
CHM1_1171,481,308 - 1,540,446 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001284499   ⟹   NP_001271428
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,569,254 - 1,605,034 (-)NCBI
HuRef171,372,193 - 1,431,528 (-)NCBI
CHM1_1171,481,308 - 1,517,095 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321364   ⟹   NP_001308293
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,569,268 - 1,628,834 (-)NCBI
CHM1_1171,481,308 - 1,540,959 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321365   ⟹   NP_001308294
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,569,268 - 1,628,416 (-)NCBI
CHM1_1171,481,308 - 1,540,446 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152346   ⟹   NP_689559
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,569,268 - 1,628,834 (-)NCBI
GRCh37171,477,678 - 1,532,130 (-)NCBI
Build 36171,424,446 - 1,478,880 (-)NCBI Archive
Celera171,493,130 - 1,547,478 (-)RGD
HuRef171,372,193 - 1,431,528 (-)NCBI
CHM1_1171,481,308 - 1,540,959 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024177   ⟹   XP_016879666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,569,267 - 1,628,384 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024178   ⟹   XP_016879667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,569,267 - 1,628,384 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024179   ⟹   XP_016879668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,569,267 - 1,630,014 (-)NCBI
Sequence:
RefSeq Acc Id: XR_933972
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,569,267 - 1,628,879 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689559   ⟸   NM_152346
- Peptide Label: isoform 2
- UniProtKB: Q8N370 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001271427   ⟸   NM_001284498
- Peptide Label: isoform 1
- UniProtKB: Q8N370 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001271428   ⟸   NM_001284499
- Peptide Label: isoform 3
- UniProtKB: Q8N370 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308293   ⟸   NM_001321364
- Peptide Label: isoform 1
- UniProtKB: Q8N370 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308294   ⟸   NM_001321365
- Peptide Label: isoform 1
- UniProtKB: Q8N370 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016879668   ⟸   XM_017024179
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016879666   ⟸   XM_017024177
- Peptide Label: isoform X1
- UniProtKB: Q8N370 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016879667   ⟸   XM_017024178
- Peptide Label: isoform X1
- UniProtKB: Q8N370 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000408284   ⟸   ENST00000412517
RefSeq Acc Id: ENSP00000461382   ⟸   ENST00000571650
RefSeq Acc Id: ENSP00000461553   ⟸   ENST00000571376
RefSeq Acc Id: ENSP00000461298   ⟸   ENST00000572801
RefSeq Acc Id: ENSP00000460388   ⟸   ENST00000576721
RefSeq Acc Id: ENSP00000301335   ⟸   ENST00000301335

Promoters
RGD ID:6794038
Promoter ID:HG_KWN:24629
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000382147,   OTTHUMT00000206717,   UC002FSU.1,   UC002FSW.2,   UC002FSX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36171,478,486 - 1,479,152 (-)MPROMDB
RGD ID:7233263
Promoter ID:EPDNEW_H22377
Type:initiation region
Name:SLC43A2_2
Description:solute carrier family 43 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22378  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,628,382 - 1,628,442EPDNEW
RGD ID:7233265
Promoter ID:EPDNEW_H22378
Type:initiation region
Name:SLC43A2_1
Description:solute carrier family 43 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22377  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,628,820 - 1,628,880EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1 copy number loss See cases [RCV000050815] Chr17:1065649..2261786 [GRCh38]
Chr17:968889..2165080 [GRCh37]
Chr17:915639..2111830 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:198748-3102332)x1 copy number loss See cases [RCV000050936] Chr17:198748..3102332 [GRCh38]
Chr17:50690..3005626 [GRCh37]
Chr17:48539..2952376 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1368601-1589181)x3 copy number gain See cases [RCV000050827] Chr17:1368601..1589181 [GRCh38]
Chr17:1271895..1492475 [GRCh37]
Chr17:1218645..1439225 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:644280-2193615)x3 copy number gain See cases [RCV000051125] Chr17:644280..2193615 [GRCh38]
Chr17:547520..2096909 [GRCh37]
Chr17:494270..2043659 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:198748-2261786)x1 copy number loss See cases [RCV000051148] Chr17:198748..2261786 [GRCh38]
Chr17:50690..2165080 [GRCh37]
Chr17:48539..2111830 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:847955-1589181)x3 copy number gain See cases [RCV000051045] Chr17:847955..1589181 [GRCh38]
Chr17:751195..1492475 [GRCh37]
Chr17:697945..1439225 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:436763-2527511)x3 copy number gain See cases [RCV000052432] Chr17:436763..2527511 [GRCh38]
Chr17:396627..2430805 [GRCh37]
Chr17:286785..2377555 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:445331-2385512)x3 copy number gain See cases [RCV000052434] Chr17:445331..2385512 [GRCh38]
Chr17:396627..2288806 [GRCh37]
Chr17:295350..2235556 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3 copy number gain See cases [RCV000052447] Chr17:1174818..1634495 [GRCh38]
Chr17:1078112..1537789 [GRCh37]
Chr17:1024862..1484539 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3 copy number gain See cases [RCV000052448] Chr17:1287199..3154232 [GRCh38]
Chr17:1190493..3057526 [GRCh37]
Chr17:1137243..3004276 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1325809-1638055)x3 copy number gain See cases [RCV000052449] Chr17:1325809..1638055 [GRCh38]
Chr17:1229103..1541349 [GRCh37]
Chr17:1175853..1488099 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:234496-2385512)x3 copy number gain See cases [RCV000052429] Chr17:234496..2385512 [GRCh38]
Chr17:396627..2288806 [GRCh37]
Chr17:84287..2235556 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-3436345)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|See cases [RCV000053386] Chr17:198748..3436345 [GRCh38]
Chr17:50690..3339639 [GRCh37]
Chr17:48539..3286389 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:198748-1920952)x1 copy number loss See cases [RCV000133787] Chr17:198748..1920952 [GRCh38]
Chr17:50690..1824246 [GRCh37]
Chr17:48539..1770996 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3 copy number gain See cases [RCV000135342] Chr17:1209808..1931101 [GRCh38]
Chr17:1113102..1834395 [GRCh37]
Chr17:1059852..1781145 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:198748-2685361)x1 copy number loss See cases [RCV000134971] Chr17:198748..2685361 [GRCh38]
Chr17:50690..2588655 [GRCh37]
Chr17:48539..2535405 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 copy number loss See cases [RCV000135857] Chr17:226472..3655099 [GRCh38]
Chr17:396627..3558393 [GRCh37]
Chr17:76263..3505142 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:847955-1641601)x3 copy number gain See cases [RCV000135574] Chr17:847955..1641601 [GRCh38]
Chr17:751195..1544895 [GRCh37]
Chr17:697945..1491645 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3 copy number gain See cases [RCV000136639] Chr17:1227482..2261786 [GRCh38]
Chr17:1130776..2165080 [GRCh37]
Chr17:1077526..2111830 [NCBI36]
Chr17:17p13.3
likely pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3 copy number gain See cases [RCV000137603] Chr17:1348488..3513273 [GRCh38]
Chr17:1251782..3416567 [GRCh37]
Chr17:1198532..3363317 [NCBI36]
Chr17:17p13.3-13.2
likely pathogenic
GRCh38/hg38 17p13.3(chr17:162016-1682817)x3 copy number gain See cases [RCV000138202] Chr17:162016..1682817 [GRCh38]
Chr17:45835..1586111 [GRCh37]
Chr17:11807..1532861 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:162016-1904358)x1 copy number loss See cases [RCV000137940] Chr17:162016..1904358 [GRCh38]
Chr17:45835..1807652 [GRCh37]
Chr17:11807..1754402 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3(chr17:1393938-1624152)x3 copy number gain See cases [RCV000137785] Chr17:1393938..1624152 [GRCh38]
Chr17:1297232..1527446 [GRCh37]
Chr17:1243982..1474196 [NCBI36]
Chr17:17p13.3
uncertain significance
GRCh38/hg38 17p13.3(chr17:162016-2099130)x1 copy number loss See cases [RCV000138246] Chr17:162016..2099130 [GRCh38]
Chr17:45835..2002424 [GRCh37]
Chr17:11807..1949174 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1 copy number loss See cases [RCV000138512] Chr17:1227392..2261993 [GRCh38]
Chr17:1130686..2165287 [GRCh37]
Chr17:1077436..2112037 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:150732-3242868)x1 copy number loss See cases [RCV000142323] Chr17:150732..3242868 [GRCh38]
Chr17:525..3146162 [GRCh37]
Chr17:525..3092912 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3(chr17:1113825-1641612)x3 copy number gain See cases [RCV000142896] Chr17:1113825..1641612 [GRCh38]
Chr17:1017065..1544906 [GRCh37]
Chr17:963815..1491656 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1 copy number loss See cases [RCV000143179] Chr17:1227482..2082382 [GRCh38]
Chr17:1130776..1985676 [GRCh37]
Chr17:1077526..1932426 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1409783-1857577)x1 copy number loss See cases [RCV000240323] Chr17:1409783..1857577 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1 copy number loss See cases [RCV000240453] Chr17:1218064..2619473 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:961016-1641881)x3 copy number gain See cases [RCV000240386] Chr17:961016..1641881 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:900530-1747271)x3 copy number gain See cases [RCV000449383] Chr17:900530..1747271 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:1482980-1714806)x3 copy number gain See cases [RCV000449182] Chr17:1482980..1714806 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:48858-2940028)x1 copy number loss See cases [RCV000449220] Chr17:48858..2940028 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:874171-2306440)x3 copy number gain See cases [RCV000447467] Chr17:874171..2306440 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2518160)x1 copy number loss See cases [RCV000446045] Chr17:525..2518160 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1114083-1784979)x1 copy number loss See cases [RCV000446754] Chr17:1114083..1784979 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.3(chr17:525-1874153)x3 copy number gain See cases [RCV000445687] Chr17:525..1874153 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2092064)x1 copy number loss See cases [RCV000445813] Chr17:525..2092064 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1 copy number loss See cases [RCV000448506] Chr17:48858..3379400 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1277162-1505103)x1 copy number loss See cases [RCV000448800] Chr17:1277162..1505103 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2891302)x1 copy number loss See cases [RCV000447687] Chr17:525..2891302 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1061434-1515760)x3 copy number gain See cases [RCV000448730] Chr17:1061434..1515760 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:6160-2002365) copy number gain See cases [RCV000448685] Chr17:6160..2002365 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2363548)x1 copy number loss See cases [RCV000448774] Chr17:525..2363548 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2750745)x1 copy number loss See cases [RCV000510381] Chr17:525..2750745 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:800049-2390454)x1 copy number loss See cases [RCV000510317] Chr17:800049..2390454 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1263628-1483869)x1 copy number loss See cases [RCV000511882] Chr17:1263628..1483869 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-1968434)x1 copy number loss See cases [RCV000511558] Chr17:525..1968434 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3(chr17:936458-1647108)x3 copy number gain See cases [RCV000511662] Chr17:936458..1647108 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:10622-1511353)x1 copy number loss See cases [RCV000512031] Chr17:10622..1511353 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:936458-1483192)x3 copy number gain See cases [RCV000511468] Chr17:936458..1483192 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3(chr17:808735-1850373)x3 copy number gain See cases [RCV000511145] Chr17:808735..1850373 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1361431-2573023) copy number loss Lissencephaly [RCV000626514] Chr17:1361431..2573023 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2264023)x1 copy number loss See cases [RCV000512467] Chr17:525..2264023 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3(chr17:1180644-1826928)x3 copy number gain not provided [RCV000683874] Chr17:1180644..1826928 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1505191-1722313)x3 copy number gain not provided [RCV000683875] Chr17:1505191..1722313 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5 copy number gain Partial agenesis of the corpus callosum [RCV000754117] Chr17:1..2538512 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1068393-1560055)x3 copy number gain not provided [RCV000739363] Chr17:1068393..1560055 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:1233239-1560055)x3 copy number gain not provided [RCV000739364] Chr17:1233239..1560055 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:1456507-1537078)x3 copy number gain not provided [RCV000739367] Chr17:1456507..1537078 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17p13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NC_000017.11:g.(?_1613195)_(1681690_?)dup duplication not provided [RCV001033449] Chr17:1516489..1584984 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:1009449-1722313)x3 copy number gain not provided [RCV001007487] Chr17:1009449..1722313 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1334510-1550848)x3 copy number gain not provided [RCV000848248] Chr17:1334510..1550848 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3 copy number gain not provided [RCV000848392] Chr17:1501331..2832123 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3 copy number gain Chromosome 17p13.3, centromeric, duplication syndrome [RCV001199953] Chr17:1192285..1641601 [GRCh38]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1204863-1751418)x3 copy number gain not provided [RCV001007489] Chr17:1204863..1751418 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1310685-1690452)x3 copy number gain not provided [RCV001007491] Chr17:1310685..1690452 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-2221159)x1 copy number loss not provided [RCV001006848] Chr17:525..2221159 [GRCh37]
Chr17:17p13.3
pathogenic
NM_152346.3(SLC43A2):c.1079-891G>A single nucleotide variant not provided [RCV000957498] Chr17:1586942 [GRCh38]
Chr17:1490236 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:84287-2468384)x1 copy number loss Distal 17p13.3 microdeletion syndrome [RCV001263217] Chr17:84287..2468384 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3 copy number gain Chromosome 17p13.3, centromeric, duplication syndrome [RCV001199954] Chr17:1113701..1844036 [GRCh38]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:722145-1875784)x1 copy number loss not provided [RCV001270662] Chr17:722145..1875784 [GRCh37]
Chr17:17p13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23087 AgrOrtholog
COSMIC SLC43A2 COSMIC
Ensembl Genes ENSG00000167703 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000301335 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000371582 UniProtKB/Swiss-Prot
  ENSP00000408284 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000460388 UniProtKB/TrEMBL
  ENSP00000461298 UniProtKB/TrEMBL
  ENSP00000461382 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000461553 UniProtKB/TrEMBL
  ENSP00000483848 UniProtKB/Swiss-Prot
  ENSP00000484291 UniProtKB/Swiss-Prot
  ENSP00000487841 UniProtKB/TrEMBL
  ENSP00000487944 UniProtKB/TrEMBL
  ENSP00000488355 UniProtKB/Swiss-Prot
  ENSP00000488706 UniProtKB/TrEMBL
Ensembl Transcript ENST00000301335 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000382147 UniProtKB/Swiss-Prot
  ENST00000412517 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000571376 UniProtKB/TrEMBL
  ENST00000571650 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000572801 UniProtKB/TrEMBL
  ENST00000576721 UniProtKB/TrEMBL
  ENST00000612931 UniProtKB/Swiss-Prot
  ENST00000613070 UniProtKB/Swiss-Prot
  ENST00000631603 UniProtKB/TrEMBL
  ENST00000633255 UniProtKB/TrEMBL
  ENST00000633994 UniProtKB/TrEMBL
  ENST00000634102 UniProtKB/Swiss-Prot
GTEx ENSG00000167703 GTEx
  ENSG00000278550 GTEx
HGNC ID HGNC:23087 ENTREZGENE
Human Proteome Map SLC43A2 Human Proteome Map
InterPro LAT4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS UniProtKB/Swiss-Prot
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:124935 UniProtKB/Swiss-Prot
NCBI Gene 124935 ENTREZGENE
OMIM 610791 OMIM
PANTHER PTHR20766:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MFS_1 UniProtKB/Swiss-Prot
PharmGKB PA134940765 PharmGKB
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt I3L3E3_HUMAN UniProtKB/TrEMBL
  I3L4J2_HUMAN UniProtKB/TrEMBL
  I3L4V3_HUMAN UniProtKB/TrEMBL
  LAT4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8WUU1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B7Z6X9 UniProtKB/Swiss-Prot
  C9JNU8 UniProtKB/Swiss-Prot
  D3DTH9 UniProtKB/Swiss-Prot
  Q5CD75 UniProtKB/Swiss-Prot
  Q6IPM1 UniProtKB/Swiss-Prot
  Q8NBX1 UniProtKB/Swiss-Prot
  Q8NC21 UniProtKB/Swiss-Prot
  Q8WZ00 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC43A2  solute carrier family 43 member 2    solute carrier family 43 (amino acid system L transporter), member 2  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC43A2  solute carrier family 43 (amino acid system L transporter), member 2    solute carrier family 43, member 2  Symbol and/or name change 5135510 APPROVED
2011-09-01 SLC43A2  solute carrier family 43, member 2  SLC43A2  solute carrier family 43, member 2  Symbol and/or name change 5135510 APPROVED