SLC9A5 (solute carrier family 9 member A5) - Rat Genome Database

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Gene: SLC9A5 (solute carrier family 9 member A5) Homo sapiens
Analyze
Symbol: SLC9A5
Name: solute carrier family 9 member A5
RGD ID: 732088
HGNC Page HGNC:11078
Description: Enables arrestin family protein binding activity and sodium:proton antiporter activity. Involved in regulation of intracellular pH and sodium ion transmembrane transport. Located in several cellular components, including focal adhesion; neuron spine; and recycling endosome membrane. Implicated in end stage renal disease.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Na(+)/H(+) exchanger 5; NHE-5; NHE5; sodium/hydrogen exchanger 5; solute carrier family 9 (sodium/hydrogen exchanger), isoform 5; solute carrier family 9 (sodium/hydrogen exchanger), member 5; solute carrier family 9 member 5; solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5
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
GRCh381667,248,979 - 67,272,191 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1667,237,683 - 67,272,191 (+)EnsemblGRCh38hg38GRCh38
GRCh371667,282,882 - 67,306,094 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361665,840,356 - 65,863,595 (+)NCBINCBI36Build 36hg18NCBI36
Build 341665,840,353 - 65,863,594NCBI
Celera1651,791,089 - 51,814,319 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1653,155,929 - 53,179,176 (+)NCBIHuRef
CHM1_11668,690,183 - 68,713,453 (+)NCBICHM1_1
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Molecular cloning and functional expression of a rat Na+/H+ exchanger (NHE5) highly expressed in brain. Attaphitaya S, etal., J Biol Chem 1999 Feb 12;274(7):4383-8.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Human Na+/H+ exchanger genes : identification of polymorphisms by radiation hybrid mapping and analysis of linkage in end-stage renal disease. Yu H, etal., Hypertension. 2000 Jan;35(1 Pt 1):135-43.
Additional References at PubMed
PMID:7759094   PMID:9933641   PMID:10692428   PMID:12205089   PMID:12417987   PMID:12477932   PMID:12576672   PMID:12598940   PMID:14702039   PMID:15699339   PMID:16920332   PMID:19276089  
PMID:19322201   PMID:21296876   PMID:21551074   PMID:21873635   PMID:24006492   PMID:24874739   PMID:24936055   PMID:31595389   PMID:33961781  


Genomics

Comparative Map Data
SLC9A5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381667,248,979 - 67,272,191 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1667,237,683 - 67,272,191 (+)EnsemblGRCh38hg38GRCh38
GRCh371667,282,882 - 67,306,094 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361665,840,356 - 65,863,595 (+)NCBINCBI36Build 36hg18NCBI36
Build 341665,840,353 - 65,863,594NCBI
Celera1651,791,089 - 51,814,319 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1653,155,929 - 53,179,176 (+)NCBIHuRef
CHM1_11668,690,183 - 68,713,453 (+)NCBICHM1_1
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBIT2T-CHM13v2.0
Slc9a5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398106,074,782 - 106,095,979 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8106,075,475 - 106,096,513 (+)EnsemblGRCm39 Ensembl
GRCm388105,348,156 - 105,369,881 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8105,348,843 - 105,369,881 (+)EnsemblGRCm38mm10GRCm38
MGSCv378107,872,158 - 107,893,781 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368108,237,387 - 108,259,010 (+)NCBIMGSCv36mm8
Celera8109,571,406 - 109,593,028 (+)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.04NCBI
Slc9a5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81950,135,973 - 50,156,833 (+)NCBIGRCr8
mRatBN7.21933,225,481 - 33,246,913 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1933,226,816 - 33,246,903 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1940,042,419 - 40,062,506 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01940,695,745 - 40,715,832 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01942,984,735 - 43,004,818 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01937,304,034 - 37,325,345 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1937,305,248 - 37,325,335 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01948,169,385 - 48,190,757 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41935,164,590 - 35,184,677 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11935,169,470 - 35,189,558 (+)NCBI
Celera1932,655,246 - 32,675,354 (+)NCBICelera
Cytogenetic Map19q12NCBI
Slc9a5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554849,359,468 - 9,379,697 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554849,359,468 - 9,379,959 (-)NCBIChiLan1.0ChiLan1.0
SLC9A5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21876,767,254 - 76,801,785 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11682,679,840 - 82,714,356 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01647,582,950 - 47,617,710 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11666,983,416 - 67,006,938 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1666,983,611 - 67,005,957 (+)Ensemblpanpan1.1panPan2
SLC9A5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1582,103,153 - 82,128,179 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl582,108,097 - 82,128,124 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha582,092,926 - 82,117,670 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0582,538,580 - 82,563,342 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl582,543,783 - 82,563,341 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1582,364,683 - 82,389,439 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0582,050,260 - 82,074,993 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0582,689,504 - 82,714,260 (-)NCBIUU_Cfam_GSD_1.0
Slc9a5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934941,856,418 - 41,878,851 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647517,711,442 - 17,732,658 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647517,711,025 - 17,732,696 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC9A5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl627,884,592 - 27,904,075 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1627,883,163 - 27,904,076 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2625,150,465 - 25,171,356 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC9A5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1560,181,229 - 60,207,913 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl560,182,190 - 60,206,523 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604722,934,265 - 22,960,155 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc9a5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474619,051,515 - 19,074,076 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474619,051,508 - 19,074,103 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC9A5
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1 copy number loss See cases [RCV000053333] Chr16:62179331..67770414 [GRCh38]
Chr16:62213235..67804317 [GRCh37]
Chr16:60770736..66361818 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 copy number loss See cases [RCV000053335] Chr16:64311275..68062011 [GRCh38]
Chr16:64345179..68095914 [GRCh37]
Chr16:62902680..66653415 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1 copy number loss See cases [RCV000053336] Chr16:66694180..67865445 [GRCh38]
Chr16:66728083..67899348 [GRCh37]
Chr16:65285584..66456849 [NCBI36]
Chr16:16q22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1 copy number loss See cases [RCV000134709] Chr16:66245888..67473023 [GRCh38]
Chr16:66279791..67506926 [GRCh37]
Chr16:64837292..66064427 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3 copy number gain See cases [RCV000137368] Chr16:66893204..67357178 [GRCh38]
Chr16:66927107..67391081 [GRCh37]
Chr16:65484608..65948582 [NCBI36]
Chr16:16q22.1		 likely pathogenic|uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3 copy number gain See cases [RCV000142764] Chr16:66921669..67312444 [GRCh38]
Chr16:66955572..67346347 [GRCh37]
Chr16:65513073..65903848 [NCBI36]
Chr16:16q22.1		 uncertain significance
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3 copy number gain See cases [RCV000510388] Chr16:66537021..67369281 [GRCh37]
Chr16:16q21-22.1		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_004594.3(SLC9A5):c.2006G>A (p.Arg669His) single nucleotide variant Inborn genetic diseases [RCV003285031] Chr16:67264515 [GRCh38]
Chr16:67298418 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1		 pathogenic
GRCh37/hg19 16q22.1(chr16:67132790-68166320) copy number loss not provided [RCV000767617] Chr16:67132790..68166320 [GRCh37]
Chr16:16q22.1		 pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_65821800)_(72146396_?)del deletion Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] Chr16:65821800..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
NM_004594.3(SLC9A5):c.2287_2288insTTT (p.Pro763delinsLeuSer) insertion Hepatocellular carcinoma [RCV002302662] Chr16:67270806..67270807 [GRCh38]
Chr16:67304709..67304710 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_004594.3(SLC9A5):c.970T>A (p.Ser324Thr) single nucleotide variant Inborn genetic diseases [RCV002901346] Chr16:67256527 [GRCh38]
Chr16:67290430 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2277_2279del (p.Lys760del) deletion Hepatocellular carcinoma [RCV002302661] Chr16:67270795..67270797 [GRCh38]
Chr16:67304698..67304700 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_004594.3(SLC9A5):c.2291_2292insCACAGGTTGGGGAGGGGG (p.Trp764delinsCysThrGlyTrpGlyGlyGly) insertion Hepatocellular carcinoma [RCV002302663] Chr16:67270809..67270810 [GRCh38]
Chr16:67304712..67304713 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_004594.3(SLC9A5):c.2107GAG[5] (p.Glu708del) microsatellite Hepatocellular carcinoma [RCV002302692] Chr16:67266114..67266116 [GRCh38]
Chr16:67300017..67300019 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_004594.3(SLC9A5):c.2261C>G (p.Ser754Cys) single nucleotide variant Hepatocellular carcinoma [RCV002302759] Chr16:67270780 [GRCh38]
Chr16:67304683 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_004594.3(SLC9A5):c.2270del (p.Cys757fs) deletion Hepatocellular carcinoma [RCV002302760] Chr16:67270789 [GRCh38]
Chr16:67304692 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_004594.3(SLC9A5):c.1321A>G (p.Thr441Ala) single nucleotide variant Inborn genetic diseases [RCV002771657] Chr16:67257099 [GRCh38]
Chr16:67291002 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1330G>A (p.Val444Met) single nucleotide variant Inborn genetic diseases [RCV002992223] Chr16:67257108 [GRCh38]
Chr16:67291011 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2234G>C (p.Cys745Ser) single nucleotide variant Inborn genetic diseases [RCV002860581] Chr16:67270753 [GRCh38]
Chr16:67304656 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.10G>T (p.Ala4Ser) single nucleotide variant Inborn genetic diseases [RCV002732491] Chr16:67249024 [GRCh38]
Chr16:67282927 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1927C>T (p.Arg643Trp) single nucleotide variant Inborn genetic diseases [RCV002860602] Chr16:67264436 [GRCh38]
Chr16:67298339 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1204A>T (p.Met402Leu) single nucleotide variant Inborn genetic diseases [RCV002817253] Chr16:67256982 [GRCh38]
Chr16:67290885 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1589G>A (p.Arg530Lys) single nucleotide variant Inborn genetic diseases [RCV002858834] Chr16:67258410 [GRCh38]
Chr16:67292313 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.202C>G (p.Arg68Gly) single nucleotide variant Inborn genetic diseases [RCV002759417] Chr16:67252556 [GRCh38]
Chr16:67286459 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2469A>C (p.Glu823Asp) single nucleotide variant Inborn genetic diseases [RCV002708704] Chr16:67270988 [GRCh38]
Chr16:67304891 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2542G>T (p.Ala848Ser) single nucleotide variant Inborn genetic diseases [RCV002981933] Chr16:67271061 [GRCh38]
Chr16:67304964 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.823G>A (p.Val275Ile) single nucleotide variant Inborn genetic diseases [RCV002712378] Chr16:67255842 [GRCh38]
Chr16:67289745 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1925A>C (p.Lys642Thr) single nucleotide variant Inborn genetic diseases [RCV002875498] Chr16:67264434 [GRCh38]
Chr16:67298337 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.41C>T (p.Ala14Val) single nucleotide variant Inborn genetic diseases [RCV002745161] Chr16:67249055 [GRCh38]
Chr16:67282958 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2495C>G (p.Pro832Arg) single nucleotide variant Inborn genetic diseases [RCV002891275] Chr16:67271014 [GRCh38]
Chr16:67304917 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1669A>G (p.Met557Val) single nucleotide variant Inborn genetic diseases [RCV002854120] Chr16:67259615 [GRCh38]
Chr16:67293518 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2027C>T (p.Ala676Val) single nucleotide variant Inborn genetic diseases [RCV002747304] Chr16:67265053 [GRCh38]
Chr16:67298956 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2266A>G (p.Thr756Ala) single nucleotide variant Inborn genetic diseases [RCV002813397] Chr16:67270785 [GRCh38]
Chr16:67304688 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1555C>T (p.Arg519Cys) single nucleotide variant Inborn genetic diseases [RCV002770023] Chr16:67258376 [GRCh38]
Chr16:67292279 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2197C>T (p.Leu733Phe) single nucleotide variant Inborn genetic diseases [RCV002897602] Chr16:67266204 [GRCh38]
Chr16:67300107 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1562G>A (p.Arg521Gln) single nucleotide variant Inborn genetic diseases [RCV002835467] Chr16:67258383 [GRCh38]
Chr16:67292286 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1861C>T (p.Arg621Cys) single nucleotide variant Inborn genetic diseases [RCV002960618] Chr16:67264370 [GRCh38]
Chr16:67298273 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.895C>G (p.Leu299Val) single nucleotide variant Inborn genetic diseases [RCV002989584] Chr16:67255914 [GRCh38]
Chr16:67289817 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.865G>A (p.Ala289Thr) single nucleotide variant Inborn genetic diseases [RCV002960850] Chr16:67255884 [GRCh38]
Chr16:67289787 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1838G>A (p.Arg613His) single nucleotide variant Inborn genetic diseases [RCV003194840] Chr16:67259942 [GRCh38]
Chr16:67293845 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1246G>A (p.Val416Ile) single nucleotide variant Inborn genetic diseases [RCV003199135] Chr16:67257024 [GRCh38]
Chr16:67290927 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2258C>G (p.Pro753Arg) single nucleotide variant Inborn genetic diseases [RCV003181432] Chr16:67270777 [GRCh38]
Chr16:67304680 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2318T>C (p.Val773Ala) single nucleotide variant Inborn genetic diseases [RCV003302200] Chr16:67270837 [GRCh38]
Chr16:67304740 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2648C>T (p.Thr883Ile) single nucleotide variant Inborn genetic diseases [RCV003180467] Chr16:67271167 [GRCh38]
Chr16:67305070 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2292G>C (p.Trp764Cys) single nucleotide variant Inborn genetic diseases [RCV003340166] Chr16:67270811 [GRCh38]
Chr16:67304714 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1952C>T (p.Thr651Ile) single nucleotide variant Inborn genetic diseases [RCV003378442] Chr16:67264461 [GRCh38]
Chr16:67298364 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.1737G>A (p.Ala579=) single nucleotide variant not provided [RCV003419362] Chr16:67259841 [GRCh38]
Chr16:67293744 [GRCh37]
Chr16:16q22.1		 likely benign
NM_004594.3(SLC9A5):c.1054G>A (p.Val352Met) single nucleotide variant Inborn genetic diseases [RCV003365969] Chr16:67256611 [GRCh38]
Chr16:67290514 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.652G>A (p.Val218Met) single nucleotide variant Inborn genetic diseases [RCV003386777] Chr16:67255182 [GRCh38]
Chr16:67289085 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2206G>C (p.Gly736Arg) single nucleotide variant not provided [RCV003426741] Chr16:67266213 [GRCh38]
Chr16:67300116 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2146_2148del (p.Lys716del) deletion not provided [RCV003419363] Chr16:67266151..67266153 [GRCh38]
Chr16:67300054..67300056 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_004594.3(SLC9A5):c.2457A>G (p.Pro819=) single nucleotide variant not provided [RCV003411369] Chr16:67270976 [GRCh38]
Chr16:67304879 [GRCh37]
Chr16:16q22.1		 likely benign
NM_004594.3(SLC9A5):c.1768C>T (p.Arg590Cys) single nucleotide variant Inborn genetic diseases [RCV003359341] Chr16:67259872 [GRCh38]
Chr16:67293775 [GRCh37]
Chr16:16q22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4263
Count of miRNA genes:1112
Interacting mature miRNAs:1416
Transcripts:ENST00000299798, ENST00000561472, ENST00000563723, ENST00000564704, ENST00000564812, ENST00000566345, ENST00000566626, ENST00000566638, ENST00000567247
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D16S421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,295,711 - 67,295,916UniSTSGRCh37
Build 361665,853,212 - 65,853,417RGDNCBI36
Celera1651,803,945 - 51,804,158RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,168,785 - 53,168,996UniSTS
Marshfield Genetic Map1685.94RGD
Marshfield Genetic Map1685.94UniSTS
Genethon Genetic Map1684.4UniSTS
TNG Radiation Hybrid Map1628916.0UniSTS
deCODE Assembly Map1684.83UniSTS
RH70396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,298,139 - 67,298,290UniSTSGRCh37
Build 361665,855,640 - 65,855,791RGDNCBI36
Celera1651,806,381 - 51,806,532RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,171,219 - 53,171,370UniSTS
GeneMap99-GB4 RH Map16405.05UniSTS
NCBI RH Map16508.6UniSTS
RH103456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,305,901 - 67,306,062UniSTSGRCh37
Build 361665,863,402 - 65,863,563RGDNCBI36
Celera1651,814,126 - 51,814,287RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,178,983 - 53,179,144UniSTS
GeneMap99-GB4 RH Map16401.61UniSTS
D16S318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,295,791 - 67,295,922UniSTSGRCh37
Build 361665,853,292 - 65,853,423RGDNCBI36
Celera1651,804,025 - 51,804,164RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,168,865 - 53,169,002UniSTS
GDB:591113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,295,789 - 67,295,925UniSTSGRCh37
Build 361665,853,290 - 65,853,426RGDNCBI36
Celera1651,804,023 - 51,804,167RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,168,863 - 53,169,005UniSTS
SLC9A5_7878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,305,467 - 67,306,224UniSTSGRCh37
Build 361665,862,968 - 65,863,725RGDNCBI36
Celera1651,813,692 - 51,814,449RGD
HuRef1653,178,549 - 53,179,306UniSTS
G44334  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
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Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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
High
Medium 3 2 14 1 262 1 18 7 919 6 371 38 2 6
Low 2360 2158 1336 256 965 105 4295 2049 2794 295 1035 1548 165 1 1202 2753 3
Below cutoff 70 825 360 349 714 342 42 138 21 117 47 26 8 29 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001323971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC040160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF111173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB475730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U08607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299798   ⟹   ENSP00000299798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,248,979 - 67,272,191 (+)Ensembl
RefSeq Acc Id: ENST00000561472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,248,979 - 67,256,478 (+)Ensembl
RefSeq Acc Id: ENST00000563723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,248,977 - 67,272,190 (+)Ensembl
RefSeq Acc Id: ENST00000564704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,237,683 - 67,272,190 (+)Ensembl
RefSeq Acc Id: ENST00000564812   ⟹   ENSP00000455058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,248,872 - 67,272,058 (+)Ensembl
RefSeq Acc Id: ENST00000566345   ⟹   ENSP00000462446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,246,915 - 67,259,942 (+)Ensembl
RefSeq Acc Id: ENST00000566626   ⟹   ENSP00000462404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,252,809 - 67,270,980 (+)Ensembl
RefSeq Acc Id: ENST00000566638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,249,078 - 67,265,148 (+)Ensembl
RefSeq Acc Id: ENST00000567247   ⟹   ENSP00000464393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,252,736 - 67,265,106 (+)Ensembl
RefSeq Acc Id: NM_001323971   ⟹   NP_001310900
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,272,191 (+)NCBI
CHM1_11668,690,103 - 68,713,453 (+)NCBI
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323972   ⟹   NP_001310901
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,272,191 (+)NCBI
CHM1_11668,690,103 - 68,713,453 (+)NCBI
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323973   ⟹   NP_001310902
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,272,191 (+)NCBI
CHM1_11668,690,103 - 68,713,453 (+)NCBI
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323974   ⟹   NP_001310903
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,272,191 (+)NCBI
CHM1_11668,690,103 - 68,713,453 (+)NCBI
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323975   ⟹   NP_001310904
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,272,191 (+)NCBI
CHM1_11668,690,103 - 68,713,453 (+)NCBI
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004594   ⟹   NP_004585
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,272,191 (+)NCBI
GRCh371667,282,855 - 67,306,094 (+)ENTREZGENE
Build 361665,840,356 - 65,863,595 (+)NCBI Archive
HuRef1653,155,929 - 53,179,176 (+)ENTREZGENE
CHM1_11668,690,183 - 68,713,453 (+)NCBI
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136664
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,272,191 (+)NCBI
CHM1_11668,690,103 - 68,713,453 (+)NCBI
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136665
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,272,191 (+)NCBI
CHM1_11668,690,103 - 68,713,466 (+)NCBI
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136666
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,272,191 (+)NCBI
CHM1_11668,690,103 - 68,713,453 (+)NCBI
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136667
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,272,191 (+)NCBI
CHM1_11668,690,103 - 68,713,453 (+)NCBI
T2T-CHM13v2.01673,043,264 - 73,066,486 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023594   ⟹   XP_016879083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,266,179 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434519   ⟹   XP_047290475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,264,440 (+)NCBI
RefSeq Acc Id: XM_047434520   ⟹   XP_047290476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,266,179 (+)NCBI
RefSeq Acc Id: XM_047434521   ⟹   XP_047290477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,248,979 - 67,258,434 (+)NCBI
RefSeq Acc Id: XM_054313755   ⟹   XP_054169730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01673,043,264 - 73,058,733 (+)NCBI
RefSeq Acc Id: XM_054313756   ⟹   XP_054169731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01673,043,264 - 73,060,472 (+)NCBI
RefSeq Acc Id: XM_054313757   ⟹   XP_054169732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01673,043,264 - 73,060,472 (+)NCBI
RefSeq Acc Id: XM_054313758   ⟹   XP_054169733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01673,043,264 - 73,052,719 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_004585   ⟸   NM_004594
- Peptide Label: isoform 1 precursor
- UniProtKB: A5PKY7 (UniProtKB/Swiss-Prot),   Q9Y626 (UniProtKB/Swiss-Prot),   Q14940 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310902   ⟸   NM_001323973
- Peptide Label: isoform 4 precursor
- Sequence:
RefSeq Acc Id: NP_001310900   ⟸   NM_001323971
- Peptide Label: isoform 2 precursor
- Sequence:
RefSeq Acc Id: NP_001310904   ⟸   NM_001323975
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001310903   ⟸   NM_001323974
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001310901   ⟸   NM_001323972
- Peptide Label: isoform 3 precursor
- Sequence:
RefSeq Acc Id: XP_016879083   ⟸   XM_017023594
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000299798   ⟸   ENST00000299798
RefSeq Acc Id: ENSP00000455058   ⟸   ENST00000564812
RefSeq Acc Id: ENSP00000462404   ⟸   ENST00000566626
RefSeq Acc Id: ENSP00000462446   ⟸   ENST00000566345
RefSeq Acc Id: ENSP00000464393   ⟸   ENST00000567247
RefSeq Acc Id: XP_047290476   ⟸   XM_047434520
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290475   ⟸   XM_047434519
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047290477   ⟸   XM_047434521
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054169731   ⟸   XM_054313756
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054169732   ⟸   XM_054313757
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054169730   ⟸   XM_054313755
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054169733   ⟸   XM_054313758
- Peptide Label: isoform X4
Protein Domains
Cation/H+ exchanger

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14940-F1-model_v2 AlphaFold Q14940 1-896 view protein structure

Promoters
RGD ID:6793460
Promoter ID:HG_KWN:24025
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000379351,   NM_004594,   UC010CEE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361665,840,131 - 65,840,631 (+)MPROMDB
RGD ID:7232523
Promoter ID:EPDNEW_H22007
Type:initiation region
Name:SLC9A5_1
Description:solute carrier family 9 member A5
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
GRCh381667,248,979 - 67,249,039EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11078 AgrOrtholog
COSMIC SLC9A5 COSMIC
Ensembl Genes ENSG00000135740 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000299798 ENTREZGENE
  ENST00000299798.16 UniProtKB/Swiss-Prot
  ENST00000564812 ENTREZGENE
  ENST00000564812.5 UniProtKB/TrEMBL
  ENST00000566345.6 UniProtKB/TrEMBL
  ENST00000566626.1 UniProtKB/TrEMBL
  ENST00000567247.6 UniProtKB/TrEMBL
Gene3D-CATH 6.10.140.1330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135740 GTEx
HGNC ID HGNC:11078 ENTREZGENE
Human Proteome Map SLC9A5 Human Proteome Map
InterPro Cation/H_exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cation/H_exchanger_CPA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/H_exchanger_3/5 UniProtKB/Swiss-Prot
  NaH_exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6553 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6553 ENTREZGENE
OMIM 600477 OMIM
PANTHER PTHR10110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SODIUM/HYDROGEN EXCHANGER 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Na_H_Exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35934 PharmGKB
PRINTS NAHEXCHNGR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAHEXCHNGR3 UniProtKB/Swiss-Prot
UniProt A5PKY7 ENTREZGENE
  H3BNY2_HUMAN UniProtKB/TrEMBL
  J3KSB3_HUMAN UniProtKB/TrEMBL
  J3KSE2_HUMAN UniProtKB/TrEMBL
  J3QRV1_HUMAN UniProtKB/TrEMBL
  Q14940 ENTREZGENE
  Q9NSW9_HUMAN UniProtKB/TrEMBL
  Q9Y626 ENTREZGENE
  SL9A5_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A5PKY7 UniProtKB/Swiss-Prot
  Q9Y626 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 SLC9A5  solute carrier family 9 member A5    solute carrier family 9 member 5  Symbol and/or name change 5135510 APPROVED
2016-02-23 SLC9A5  solute carrier family 9 member 5    solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5  Symbol and/or name change 5135510 APPROVED
2012-03-27 SLC9A5  solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5  SLC9A5  solute carrier family 9 (sodium/hydrogen exchanger), member 5  Symbol and/or name change 5135510 APPROVED