Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Edema | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20553904 |


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Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Edema | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20553904 |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 1318024 2346229 7683411 8595899 8843774 8901634 9847074 10187839 10444453 10579058 11254504 11350981 11408268 12477932 12576672 15664417 15815621 16982955 17561809 17881426 17943310 19056765 19389806 19479940 20379614 21873635 22052014 24376510 24874739 25406947 25423035 25486439 28495796 30977986 |
SLC9A2 (Homo sapiens - human) |
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Slc9a2 (Mus musculus - house mouse) |
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Slc9a2 (Rattus norvegicus - Norway rat) |
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Slc9a2 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC9A2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC9A2 (Canis lupus familiaris - dog) |
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Slc9a2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC9A2 (Sus scrofa - pig) |
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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. |
RefSeq Transcripts | NG_050930 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_003048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA843986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC007239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF073299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF273748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK129936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC035787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC136377 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC136378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S83549 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_003048 ⟹ NP_003039 | |||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
AGGGCCTGCCGCTGCGGCTGGAGAGCAGCGCACCGGCATGGGCAGGCGGCCGGCGGCGGAGGGChide sequence |
Protein RefSeqs | NP_003039 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAB50820 | (Get FASTA) | NCBI Sequence Viewer |
AAD41635 | (Get FASTA) | NCBI Sequence Viewer | |
AAF19248 | (Get FASTA) | NCBI Sequence Viewer | |
AAI36378 | (Get FASTA) | NCBI Sequence Viewer | |
AAI36379 | (Get FASTA) | NCBI Sequence Viewer | |
AAK58694 | (Get FASTA) | NCBI Sequence Viewer | |
EAX01788 | (Get FASTA) | NCBI Sequence Viewer | |
EAX01789 | (Get FASTA) | NCBI Sequence Viewer | |
Q9UBY0 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_003039 ⟸ NM_003048 |
- Peptide Label: | precursor |
- UniProtKB: | Q9UBY0 (UniProtKB/Swiss-Prot) |
- Sequence: |
MEPLGNWRSLRAPLPPMLLLLLLQVAGPVGALAETLLNAPRAMGTSSSPPSPASVVAPGTTLFEhide sequence |
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: |
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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: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 | copy number gain | Global developmental delay [RCV000050836]|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 | Short stature [RCV000052946]|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 | Glaucoma [RCV000052947]|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 |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:11072 | AgrOrtholog |
COSMIC | SLC9A2 | COSMIC |
Ensembl Genes | ENSG00000115616 | 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 |
UniGene | Hs.250083 | ENTREZGENE |
UniProt | Q9UBY0 | ENTREZGENE, UniProtKB/Swiss-Prot |
UniProt Secondary | B2RMS2 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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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 |
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More on SLC9A2 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 730959 |
Created: | 2003-12-10 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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