SLC9A2 (solute carrier family 9 member A2) - Rat Genome Database

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Gene: SLC9A2 (solute carrier family 9 member A2) Homo sapiens
Analyze
Symbol: SLC9A2
Name: solute carrier family 9 member A2
RGD ID: 730959
HGNC Page HGNC
Description: Predicted to enable potassium:proton antiporter activity and sodium:proton antiporter activity. Predicted to be involved in potassium ion transmembrane transport; regulation of intracellular pH; and sodium ion import across plasma membrane. Predicted to act upstream of or within protein localization; regulation of pH; and sodium ion transport. Predicted to be integral component of membrane. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Na(+)/H(+) exchanger 2; NHE-2; NHE2; sodium/hydrogen exchanger 2; solute carrier family 9 (sodium/hydrogen exchanger), isoform 2; solute carrier family 9 (sodium/hydrogen exchanger), member 2; solute carrier family 9 member 2; solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100422471  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2102,619,553 - 102,711,355 (+)EnsemblGRCh38hg38GRCh38
GRCh382102,619,553 - 102,711,355 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372103,236,012 - 103,327,814 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362102,602,598 - 102,694,241 (+)NCBINCBI36hg18NCBI36
Build 342102,694,683 - 102,786,325NCBI
Celera297,437,331 - 97,528,969 (+)NCBI
Cytogenetic Map2q12.1NCBI
HuRef297,000,460 - 97,092,035 (+)NCBIHuRef
CHM1_12103,240,476 - 103,332,120 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1318024   PMID:2346229   PMID:7683411   PMID:8595899   PMID:8843774   PMID:8901634   PMID:9847074   PMID:10187839   PMID:10444453   PMID:10579058   PMID:11254504   PMID:11350981  
PMID:11408268   PMID:12477932   PMID:12576672   PMID:15664417   PMID:15815621   PMID:16982955   PMID:17561809   PMID:17881426   PMID:17943310   PMID:19056765   PMID:19389806   PMID:19479940  
PMID:20379614   PMID:21873635   PMID:22052014   PMID:24376510   PMID:24874739   PMID:25406947   PMID:25423035   PMID:25486439   PMID:28495796   PMID:30021884   PMID:30977986   PMID:34288721  


Genomics

Comparative Map Data
SLC9A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2102,619,553 - 102,711,355 (+)EnsemblGRCh38hg38GRCh38
GRCh382102,619,553 - 102,711,355 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372103,236,012 - 103,327,814 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362102,602,598 - 102,694,241 (+)NCBINCBI36hg18NCBI36
Build 342102,694,683 - 102,786,325NCBI
Celera297,437,331 - 97,528,969 (+)NCBI
Cytogenetic Map2q12.1NCBI
HuRef297,000,460 - 97,092,035 (+)NCBIHuRef
CHM1_12103,240,476 - 103,332,120 (+)NCBICHM1_1
Slc9a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39140,720,872 - 40,808,045 (+)NCBIGRCm39mm39
GRCm39 Ensembl140,719,734 - 40,808,433 (+)Ensembl
GRCm38140,681,712 - 40,768,885 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl140,680,574 - 40,769,273 (+)EnsemblGRCm38mm10GRCm38
MGSCv37140,738,557 - 40,825,730 (+)NCBIGRCm37mm9NCBIm37
MGSCv36140,626,258 - 40,713,431 (+)NCBImm8
Celera140,497,312 - 40,580,915 (+)NCBICelera
Cytogenetic Map1BNCBI
cM Map119.66NCBI
Slc9a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2942,932,001 - 43,014,447 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl942,931,346 - 43,014,444 (+)Ensembl
Rnor_6.0947,386,581 - 47,491,813 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl947,386,626 - 47,491,907 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0947,069,252 - 47,174,869 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4939,832,184 - 39,916,242 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1939,864,431 - 39,917,653 (+)NCBI
Celera940,674,586 - 40,756,808 (+)NCBICelera
RH 3.4 Map9416.79RGD
Cytogenetic Map9q22NCBI
Slc9a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554708,083,641 - 8,137,372 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554708,083,737 - 8,137,372 (+)NCBIChiLan1.0ChiLan1.0
SLC9A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A103,716,909 - 103,808,140 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A103,717,055 - 103,806,141 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A99,112,174 - 99,202,890 (-)NCBIMhudiblu_PPA_v0panPan3
SLC9A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11040,334,417 - 40,394,438 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1040,338,284 - 40,394,470 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1040,259,042 - 40,355,812 (-)NCBI
ROS_Cfam_1.01041,199,202 - 41,296,164 (-)NCBI
UMICH_Zoey_3.11040,914,179 - 41,010,959 (-)NCBI
UNSW_CanFamBas_1.01041,194,951 - 41,291,464 (-)NCBI
UU_Cfam_GSD_1.01041,387,298 - 41,484,088 (-)NCBI
Slc9a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629289,792,543 - 89,876,241 (-)NCBI
SpeTri2.0NW_0049367131,256,678 - 1,340,338 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC9A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl351,535,798 - 51,623,057 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1351,535,798 - 51,623,003 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2353,962,479 - 54,047,324 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC9A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1146,274,887 - 6,368,183 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041173,959,230 - 174,051,533 (+)NCBIVero_WHO_p1.0
Slc9a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247497,100,585 - 7,188,744 (+)NCBIHetGla_female_1.0hetGla2

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1168
Count of miRNA genes:774
Interacting mature miRNAs:879
Transcripts:ENST00000233969, ENST00000467657, ENST00000469286
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 550 5 4 4 4 3 1 5 57 144 45 2 2
Low 460 60 760 176 353 25 1925 806 1654 221 695 576 157 25 1391 1
Below cutoff 1277 2162 794 288 1129 281 1908 1123 1867 83 479 843 12 938 1115 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000233969   ⟹   ENSP00000233969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2102,619,553 - 102,711,355 (+)Ensembl
RefSeq Acc Id: ENST00000467657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2102,684,298 - 102,686,768 (+)Ensembl
RefSeq Acc Id: ENST00000469286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2102,689,694 - 102,702,451 (+)Ensembl
RefSeq Acc Id: NM_003048   ⟹   NP_003039
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382102,619,553 - 102,711,355 (+)NCBI
GRCh372103,236,166 - 103,327,809 (+)ENTREZGENE
Build 362102,602,598 - 102,694,241 (+)NCBI Archive
HuRef297,000,460 - 97,092,035 (+)ENTREZGENE
CHM1_12103,240,458 - 103,332,120 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003039   ⟸   NM_003048
- Peptide Label: precursor
- UniProtKB: Q9UBY0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000233969   ⟸   ENST00000233969

Promoters
RGD ID:6798192
Promoter ID:HG_KWN:34211
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:NM_003048
Position:
Human AssemblyChrPosition (strand)Source
Build 362102,602,226 - 102,602,727 (+)MPROMDB
RGD ID:6861218
Promoter ID:EPDNEW_H3774
Type:initiation region
Name:SLC9A2_1
Description:solute carrier family 9 member A2
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
GRCh382102,619,734 - 102,619,794EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 copy number gain See cases [RCV000050836] Chr2:100378510..108472871 [GRCh38]
Chr2:100994972..109089327 [GRCh37]
Chr2:100361404..108455759 [NCBI36]
Chr2:2q11.2-12.3
pathogenic
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1
pathogenic
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
NM_003048.4(SLC9A2):c.1167G>A (p.Trp389Ter) single nucleotide variant Malignant melanoma [RCV000060285] Chr2:102683423 [GRCh38]
Chr2:103299882 [GRCh37]
Chr2:102666314 [NCBI36]
Chr2:2q12.1
not provided
NM_003048.4(SLC9A2):c.1419C>T (p.Phe473=) single nucleotide variant Malignant melanoma [RCV000060286] Chr2:102684330 [GRCh38]
Chr2:103300789 [GRCh37]
Chr2:102667221 [NCBI36]
Chr2:2q12.1
not provided
NM_003048.4(SLC9A2):c.2260G>A (p.Glu754Lys) single nucleotide variant Malignant melanoma [RCV000060287] Chr2:102708310 [GRCh38]
Chr2:103324769 [GRCh37]
Chr2:102691201 [NCBI36]
Chr2:2q12.1
not provided
NM_003048.4(SLC9A2):c.504G>A (p.Thr168=) single nucleotide variant Malignant melanoma [RCV000064996] Chr2:102657778 [GRCh38]
Chr2:103274237 [GRCh37]
Chr2:102640669 [NCBI36]
Chr2:2q12.1
not provided
NM_003048.4(SLC9A2):c.771C>T (p.Phe257=) single nucleotide variant Malignant melanoma [RCV000064997] Chr2:102665117 [GRCh38]
Chr2:103281576 [GRCh37]
Chr2:102648008 [NCBI36]
Chr2:2q12.1
not provided
NM_003048.4(SLC9A2):c.906C>T (p.Phe302=) single nucleotide variant Malignant melanoma [RCV000064998] Chr2:102665252 [GRCh38]
Chr2:103281711 [GRCh37]
Chr2:102648143 [NCBI36]
Chr2:2q12.1
not provided
NM_003048.4(SLC9A2):c.1756C>T (p.Arg586Cys) single nucleotide variant Malignant melanoma [RCV000064999] Chr2:102702413 [GRCh38]
Chr2:103318872 [GRCh37]
Chr2:102685304 [NCBI36]
Chr2:2q12.1
not provided
NM_003048.4(SLC9A2):c.2168C>T (p.Ser723Phe) single nucleotide variant Malignant melanoma [RCV000065000] Chr2:102708218 [GRCh38]
Chr2:103324677 [GRCh37]
Chr2:102691109 [NCBI36]
Chr2:2q12.1
not provided
NM_003048.4(SLC9A2):c.2169C>T (p.Ser723=) single nucleotide variant Malignant melanoma [RCV000065001] Chr2:102708219 [GRCh38]
Chr2:103324678 [GRCh37]
Chr2:102691110 [NCBI36]
Chr2:2q12.1
not provided
GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1 copy number loss See cases [RCV000134974] Chr2:102084275..106085903 [GRCh38]
Chr2:102700735..106702359 [GRCh37]
Chr2:102067167..106068791 [NCBI36]
Chr2:2q11.2-12.2
likely pathogenic
NM_003048.6(SLC9A2):c.2173del (p.Gln725fs) deletion Acute megakaryoblastic leukemia [RCV000202593] Chr2:102708218 [GRCh38]
Chr2:103324677 [GRCh37]
Chr2:2q12.1
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3 copy number gain See cases [RCV000141445] Chr2:100478285..106498909 [GRCh38]
Chr2:101094747..107115365 [GRCh37]
Chr2:100461179..106481797 [NCBI36]
Chr2:2q11.2-12.2
uncertain significance
GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1 copy number loss See cases [RCV000142969] Chr2:101234070..105679157 [GRCh38]
Chr2:101850532..106295614 [GRCh37]
Chr2:101216964..105662046 [NCBI36]
Chr2:2q11.2-12.2
pathogenic
GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) copy number gain See cases [RCV000449270] Chr2:95529039..108518266 [GRCh37]
Chr2:2q11.1-12.3
pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127) copy number gain See cases [RCV000511158] Chr2:95518497..107186127 [GRCh37]
Chr2:2q11.1-12.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q11.2-12.1(chr2:102248064-103361749)x3 copy number gain not provided [RCV000848462] Chr2:102248064..103361749 [GRCh37]
Chr2:2q11.2-12.1
uncertain significance
GRCh37/hg19 2q12.1-12.2(chr2:102917327-106755564)x1 copy number loss not provided [RCV000848959] Chr2:102917327..106755564 [GRCh37]
Chr2:2q12.1-12.2
uncertain significance
NM_003048.6(SLC9A2):c.289+15331G>A single nucleotide variant Ascending aortic dissection [RCV001543148] Chr2:102635468 [GRCh38]
Chr2:103251927 [GRCh37]
Chr2:2q12.1
association

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11072 AgrOrtholog
COSMIC SLC9A2 COSMIC
Ensembl Genes ENSG00000115616 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000233969 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000233969 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000115616 GTEx
HGNC ID HGNC:11072 ENTREZGENE
Human Proteome Map SLC9A2 Human Proteome Map
InterPro Cation/H_exchanger UniProtKB/Swiss-Prot
  Cation/H_exchanger_CPA1 UniProtKB/Swiss-Prot
  Na/H_exchanger_2 UniProtKB/Swiss-Prot
  NaH_exchanger UniProtKB/Swiss-Prot
  NHE_CaM-bd UniProtKB/Swiss-Prot
KEGG Report hsa:6549 UniProtKB/Swiss-Prot
NCBI Gene 6549 ENTREZGENE
OMIM 600530 OMIM
PANTHER PTHR10110 UniProtKB/Swiss-Prot
Pfam Na_H_Exchanger UniProtKB/Swiss-Prot
  NEXCaM_BD UniProtKB/Swiss-Prot
PharmGKB PA35929 PharmGKB
PRINTS NAHEXCHNGR UniProtKB/Swiss-Prot
  NAHEXCHNGR2 UniProtKB/Swiss-Prot
TIGRFAMs b_cpa1 UniProtKB/Swiss-Prot
UniProt Q9UBY0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RMS2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 SLC9A2  solute carrier family 9 member A2    solute carrier family 9 member 2  Symbol and/or name change 5135510 APPROVED
2016-02-23 SLC9A2  solute carrier family 9 member 2    solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2  Symbol and/or name change 5135510 APPROVED
2012-03-27 SLC9A2  solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2  SLC9A2  solute carrier family 9 (sodium/hydrogen exchanger), member 2  Symbol and/or name change 5135510 APPROVED