SLC9B1 (solute carrier family 9 member B1) - Rat Genome Database

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Gene: SLC9B1 (solute carrier family 9 member B1) Homo sapiens
Analyze
Symbol: SLC9B1
Name: solute carrier family 9 member B1
RGD ID: 1605279
HGNC Page HGNC:24244
Description: Predicted to enable sodium:proton antiporter activity. Predicted to be involved in flagellated sperm motility and regulation of intracellular pH. Predicted to be located in sperm principal piece.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CG10806-like; MGC131641; Na(+)/H(+) exchanger-like domain-containing protein 1; Na+/H+ exchanger domain containing 1; Na+/H+ exchanger like domain containing; Na-H-exchanger protein; NHA1; NHE domain-containing protein 1; NHEDC1; sodium/hydrogen exchanger 9B1; sodium/hydrogen exchanger-like domain-containing protein 1; solute carrier family 9 subfamily B member 1; solute carrier family 9, subfamily B (cation proton antiporter 2), member 1; solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1; testicular tissue protein Li 127
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: SLC9B1P1   SLC9B1P2   SLC9B1P3   SLC9B1P4   SLC9B1P5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384102,885,049 - 103,019,705 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4102,885,048 - 103,019,719 (-)EnsemblGRCh38hg38GRCh38
GRCh374103,806,206 - 103,940,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364104,025,643 - 104,160,325 (-)NCBINCBI36Build 36hg18NCBI36
Celera4101,105,822 - 101,237,997 (-)NCBICelera
Cytogenetic Map4q24NCBI
HuRef499,542,386 - 99,674,649 (-)NCBIHuRef
CHM1_14103,782,676 - 103,917,369 (-)NCBICHM1_1
T2T-CHM13v2.04106,199,371 - 106,331,591 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16850186   PMID:19460752   PMID:21873635   PMID:25701605   PMID:29235940   PMID:35156780  


Genomics

Comparative Map Data
SLC9B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384102,885,049 - 103,019,705 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4102,885,048 - 103,019,719 (-)EnsemblGRCh38hg38GRCh38
GRCh374103,806,206 - 103,940,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364104,025,643 - 104,160,325 (-)NCBINCBI36Build 36hg18NCBI36
Celera4101,105,822 - 101,237,997 (-)NCBICelera
Cytogenetic Map4q24NCBI
HuRef499,542,386 - 99,674,649 (-)NCBIHuRef
CHM1_14103,782,676 - 103,917,369 (-)NCBICHM1_1
T2T-CHM13v2.04106,199,371 - 106,331,591 (-)NCBIT2T-CHM13v2.0
Slc9b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393135,053,754 - 135,103,588 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3135,053,790 - 135,103,588 (+)EnsemblGRCm39 Ensembl
GRCm383135,347,993 - 135,397,827 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3135,348,029 - 135,397,827 (+)EnsemblGRCm38mm10GRCm38
MGSCv373135,011,001 - 135,060,791 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363135,285,445 - 135,330,469 (+)NCBIMGSCv36mm8
Celera3141,762,353 - 141,812,176 (+)NCBICelera
Cytogenetic Map3G3NCBI
cM Map362.55NCBI
Slc9b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82226,442,892 - 226,502,966 (+)NCBIGRCr8
mRatBN7.22223,769,105 - 223,818,359 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2223,769,105 - 223,818,179 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2231,494,639 - 231,543,764 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02229,394,375 - 229,443,501 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02224,259,152 - 224,308,281 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02240,527,120 - 240,581,616 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2240,527,130 - 240,576,179 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02259,048,088 - 259,097,137 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42232,849,203 - 232,891,958 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12232,785,756 - 232,878,518 (+)NCBI
Celera2215,981,853 - 216,030,452 (+)NCBICelera
Cytogenetic Map2q43NCBI
Slc9b1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554965,601,578 - 5,641,594 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554965,586,836 - 5,637,550 (+)NCBIChiLan1.0ChiLan1.0
SLC9B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23100,957,869 - 101,101,525 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14101,239,766 - 101,388,083 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0495,324,597 - 95,475,599 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14105,987,123 - 106,100,119 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4105,971,131 - 106,071,773 (-)Ensemblpanpan1.1panPan2
SLC9B1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13224,292,961 - 24,352,795 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3224,272,035 - 24,352,715 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3217,671,009 - 17,730,793 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03224,512,870 - 24,572,676 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3224,491,739 - 24,572,600 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13224,530,079 - 24,589,801 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03224,273,332 - 24,332,907 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03215,529,630 - 15,589,435 (+)NCBIUU_Cfam_GSD_1.0
Slc9b1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530117,028,688 - 17,123,018 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936520411,811 - 466,280 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936520405,239 - 466,280 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC9B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8118,052,500 - 118,155,396 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18118,052,091 - 118,134,685 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28127,025,802 - 127,109,925 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC9B1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1751,011,569 - 51,125,675 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603729,521,693 - 29,637,229 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in SLC9B1
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
NM_001100874.2(SLC9B1):c.772G>A (p.Asp258Asn) single nucleotide variant Malignant melanoma [RCV000060889] Chr4:102932181 [GRCh38]
Chr4:103853338 [GRCh37]
Chr4:104072787 [NCBI36]
Chr4:4q24
not provided
NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln) single nucleotide variant Wolfram syndrome 2 [RCV000000940] Chr4:102885221 [GRCh38]
Chr4:103806378 [GRCh37]
Chr4:4q24
pathogenic
NM_001008388.5(CISD2):c.240G>A (p.Pro80=) single nucleotide variant Wolfram syndrome 2 [RCV002492454]|not provided [RCV001519221] Chr4:102885352 [GRCh38]
Chr4:103806509 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001008388.4(CISD2):c.330C>G (p.Cys110Trp) single nucleotide variant not specified [RCV000124309] Chr4:102887352 [GRCh38]
Chr4:103808509 [GRCh37]
Chr4:4q24
benign
NM_001008388.4(CISD2):c.330C>T (p.Cys110=) single nucleotide variant not specified [RCV000124310] Chr4:102887352 [GRCh38]
Chr4:103808509 [GRCh37]
Chr4:4q24
benign
NM_001008388.4(CISD2):c.335G>A (p.Gly112Asp) single nucleotide variant not specified [RCV000124311] Chr4:102887357 [GRCh38]
Chr4:103808514 [GRCh37]
Chr4:4q24
benign
NM_001008388.4(CISD2):c.358T>C (p.Leu120=) single nucleotide variant not specified [RCV000124312] Chr4:102887380 [GRCh38]
Chr4:103808537 [GRCh37]
Chr4:4q24
benign
NM_001008388.4(CISD2):c.(104_304)-84_318+724del deletion Wolfram syndrome 2 [RCV000144239] Chr4:102885416..102886154 [GRCh38]
Chr4:4q24
pathogenic
NM_139173.4(SLC9B1):c.1108A>G (p.Thr370Ala) single nucleotide variant Inborn genetic diseases [RCV003244323] Chr4:102906623 [GRCh38]
Chr4:103827780 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001008388.5(CISD2):c.224T>C (p.Ile75Thr) single nucleotide variant not provided [RCV000425287] Chr4:102885336 [GRCh38]
Chr4:103806493 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
NM_139173.4(SLC9B1):c.127A>G (p.Thr43Ala) single nucleotide variant Inborn genetic diseases [RCV003281787] Chr4:102989884 [GRCh38]
Chr4:103911041 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.319-20T>C single nucleotide variant Wolfram syndrome 2 [RCV002498907]|not provided [RCV001402699]|not specified [RCV000613284] Chr4:102887321 [GRCh38]
Chr4:103808478 [GRCh37]
Chr4:4q24
likely benign
NM_139173.4(SLC9B1):c.1333G>C (p.Ala445Pro) single nucleotide variant Inborn genetic diseases [RCV003274697] Chr4:102901332 [GRCh38]
Chr4:103822489 [GRCh37]
Chr4:4q24
uncertain significance
NC_000004.11:g.(103790345_103806372)_(103813965_?)del deletion Wolfram syndrome 2 [RCV003317783] Chr4:103806372..103813965 [GRCh37]
Chr4:4q24
pathogenic
NM_001008388.5(CISD2):c.336T>C (p.Gly112=) single nucleotide variant not specified [RCV000612084] Chr4:102887358 [GRCh38]
Chr4:103808515 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q24(chr4:103846070-104693179)x3 copy number gain not provided [RCV000682438] Chr4:103846070..104693179 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4q24(chr4:103800194-103870091)x3 copy number gain not provided [RCV000743879] Chr4:103800194..103870091 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4q24(chr4:103802242-103813594)x3 copy number gain not provided [RCV000743880] Chr4:103802242..103813594 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001008388.5(CISD2):c.294T>C (p.Tyr98=) single nucleotide variant not provided [RCV000921601] Chr4:102885406 [GRCh38]
Chr4:103806563 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q24(chr4:103900089-103940328)x1 copy number loss not provided [RCV000845649] Chr4:103900089..103940328 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4q24(chr4:103865132-105720367)x1 copy number loss not provided [RCV001005582] Chr4:103865132..105720367 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.769A>G (p.Met257Val) single nucleotide variant Inborn genetic diseases [RCV003241111] Chr4:102932184 [GRCh38]
Chr4:103853341 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.170G>A (p.Arg57His) single nucleotide variant not provided [RCV003122002] Chr4:102885282 [GRCh38]
Chr4:103806439 [GRCh37]
Chr4:4q24
uncertain significance
NC_000004.11:g.(?_102001669)_(103806607_?)del deletion not provided [RCV003105379] Chr4:102001669..103806607 [GRCh37]
Chr4:4q24
pathogenic
NC_000004.11:g.(?_101947022)_(106061534_?)del deletion not provided [RCV003107794] Chr4:101947022..106061534 [GRCh37]
Chr4:4q24
pathogenic
NM_001008388.5(CISD2):c.104-9C>A single nucleotide variant Wolfram syndrome 2 [RCV002501449]|not provided [RCV000889624] Chr4:102885207 [GRCh38]
Chr4:103806364 [GRCh37]
Chr4:4q24
benign|likely benign
GRCh37/hg19 4q24(chr4:102851823-104641864) copy number loss Immunodeficiency, common variable, 12 [RCV002280616] Chr4:102851823..104641864 [GRCh37]
Chr4:4q24
likely pathogenic
NM_001008388.5(CISD2):c.*79C>A single nucleotide variant not provided [RCV001355153] Chr4:102887509 [GRCh38]
Chr4:103808666 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.318+20G>A single nucleotide variant not provided [RCV001519809] Chr4:102885450 [GRCh38]
Chr4:103806607 [GRCh37]
Chr4:4q24
benign
NC_000004.11:g.(?_101947022)_(104640832_?)del deletion Beta-D-mannosidosis [RCV001946800]|not provided [RCV003107924] Chr4:101947022..104640832 [GRCh37]
Chr4:4q24
pathogenic|no classifications from unflagged records
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
NM_001008388.5(CISD2):c.227A>T (p.Gln76Leu) single nucleotide variant not provided [RCV002011895] Chr4:102885339 [GRCh38]
Chr4:103806496 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.403G>A (p.Val135Ile) single nucleotide variant Inborn genetic diseases [RCV003289108]|not provided [RCV002029995] Chr4:102887425 [GRCh38]
Chr4:103808582 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.239C>T (p.Pro80Leu) single nucleotide variant Wolfram syndrome 2 [RCV002479565]|not provided [RCV002012136] Chr4:102885351 [GRCh38]
Chr4:103806508 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25
likely pathogenic
NM_001008388.5(CISD2):c.182C>T (p.Pro61Leu) single nucleotide variant not provided [RCV001923813] Chr4:102885294 [GRCh38]
Chr4:103806451 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.298A>G (p.Arg100Gly) single nucleotide variant not provided [RCV001903583] Chr4:102885410 [GRCh38]
Chr4:103806567 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.325G>A (p.Ala109Thr) single nucleotide variant not provided [RCV001907684] Chr4:102887347 [GRCh38]
Chr4:103808504 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.393G>A (p.Lys131=) single nucleotide variant not provided [RCV002131887] Chr4:102887415 [GRCh38]
Chr4:103808572 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.104-10A>G single nucleotide variant not provided [RCV002176938] Chr4:102885206 [GRCh38]
Chr4:103806363 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.396G>A (p.Lys132=) single nucleotide variant not provided [RCV002157261] Chr4:102887418 [GRCh38]
Chr4:103808575 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.120G>A (p.Arg40=) single nucleotide variant not provided [RCV002191729] Chr4:102885232 [GRCh38]
Chr4:103806389 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.318+17C>T single nucleotide variant not provided [RCV002150915] Chr4:102885447 [GRCh38]
Chr4:103806604 [GRCh37]
Chr4:4q24
likely benign
NM_139173.4(SLC9B1):c.1145G>A (p.Gly382Asp) single nucleotide variant Inborn genetic diseases [RCV002865091] Chr4:102906586 [GRCh38]
Chr4:103827743 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.144C>T (p.Leu48=) single nucleotide variant not provided [RCV002616310] Chr4:102885256 [GRCh38]
Chr4:103806413 [GRCh37]
Chr4:4q24
likely benign
NM_139173.4(SLC9B1):c.1007G>A (p.Arg336His) single nucleotide variant Inborn genetic diseases [RCV002816762] Chr4:102910518 [GRCh38]
Chr4:103831675 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.794G>C (p.Gly265Ala) single nucleotide variant Inborn genetic diseases [RCV002689822] Chr4:102932159 [GRCh38]
Chr4:103853316 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.682G>A (p.Val228Ile) single nucleotide variant Inborn genetic diseases [RCV002727429] Chr4:102932271 [GRCh38]
Chr4:103853428 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.235A>T (p.Asn79Tyr) single nucleotide variant not provided [RCV002662382] Chr4:102885347 [GRCh38]
Chr4:103806504 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.364C>T (p.Pro122Ser) single nucleotide variant Inborn genetic diseases [RCV002704180] Chr4:102949275 [GRCh38]
Chr4:103870432 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.228A>G (p.Gln76=) single nucleotide variant not provided [RCV003039126] Chr4:102885340 [GRCh38]
Chr4:103806497 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.264T>A (p.Ile88=) single nucleotide variant not provided [RCV002658938] Chr4:102885376 [GRCh38]
Chr4:103806533 [GRCh37]
Chr4:4q24
likely benign
NM_139173.4(SLC9B1):c.320T>C (p.Ile107Thr) single nucleotide variant Inborn genetic diseases [RCV002845404] Chr4:102949319 [GRCh38]
Chr4:103870476 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.1005A>T (p.Gln335His) single nucleotide variant Inborn genetic diseases [RCV002868318] Chr4:102910520 [GRCh38]
Chr4:103831677 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.204T>C (p.Asp68=) single nucleotide variant not provided [RCV002824630] Chr4:102885316 [GRCh38]
Chr4:103806473 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.226C>A (p.Gln76Lys) single nucleotide variant not provided [RCV003037770] Chr4:102885338 [GRCh38]
Chr4:103806495 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.97C>T (p.Gln33Ter) single nucleotide variant Inborn genetic diseases [RCV002978114] Chr4:102989914 [GRCh38]
Chr4:103911071 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.104A>C (p.Glu35Ala) single nucleotide variant Inborn genetic diseases [RCV002853515] Chr4:102989907 [GRCh38]
Chr4:103911064 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.142C>T (p.Leu48Phe) single nucleotide variant not provided [RCV002791521] Chr4:102885254 [GRCh38]
Chr4:103806411 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.487A>G (p.Ile163Val) single nucleotide variant Inborn genetic diseases [RCV003004047] Chr4:102946685 [GRCh38]
Chr4:103867842 [GRCh37]
Chr4:4q24
likely benign
NM_139173.4(SLC9B1):c.730G>A (p.Glu244Lys) single nucleotide variant Inborn genetic diseases [RCV002986855] Chr4:102932223 [GRCh38]
Chr4:103853380 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.318+19T>C single nucleotide variant not provided [RCV003007511] Chr4:102885449 [GRCh38]
Chr4:103806606 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.183G>A (p.Pro61=) single nucleotide variant not provided [RCV002632016] Chr4:102885295 [GRCh38]
Chr4:103806452 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.300G>A (p.Arg100=) single nucleotide variant not provided [RCV002597914] Chr4:102885412 [GRCh38]
Chr4:103806569 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.318+16A>T single nucleotide variant not provided [RCV003066132] Chr4:102885446 [GRCh38]
Chr4:103806603 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.118C>T (p.Arg40Trp) single nucleotide variant not provided [RCV003050039] Chr4:102885230 [GRCh38]
Chr4:103806387 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.517G>C (p.Asp173His) single nucleotide variant Inborn genetic diseases [RCV002656152] Chr4:102946655 [GRCh38]
Chr4:103867812 [GRCh37]
Chr4:4q24
uncertain significance
NC_000004.11:g.(?_101947022)_(107268849_?)dup duplication not provided [RCV003154901] Chr4:101947022..107268849 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.724G>A (p.Gly242Ser) single nucleotide variant Inborn genetic diseases [RCV003212526] Chr4:102932229 [GRCh38]
Chr4:103853386 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.115G>T (p.Val39Phe) single nucleotide variant Inborn genetic diseases [RCV003308726] Chr4:102989896 [GRCh38]
Chr4:103911053 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.541A>G (p.Lys181Glu) single nucleotide variant Inborn genetic diseases [RCV003262572] Chr4:102945305 [GRCh38]
Chr4:103866462 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.517G>A (p.Asp173Asn) single nucleotide variant Inborn genetic diseases [RCV003376516] Chr4:102946655 [GRCh38]
Chr4:103867812 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.155A>G (p.Lys52Arg) single nucleotide variant Inborn genetic diseases [RCV003374184] Chr4:102989856 [GRCh38]
Chr4:103911013 [GRCh37]
Chr4:4q24
uncertain significance
NM_139173.4(SLC9B1):c.71G>C (p.Ser24Thr) single nucleotide variant Inborn genetic diseases [RCV003374850] Chr4:102989940 [GRCh38]
Chr4:103911097 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.318+18G>A single nucleotide variant not provided [RCV003660282] Chr4:102885448 [GRCh38]
Chr4:103806605 [GRCh37]
Chr4:4q24
likely benign
NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs) microsatellite Usher syndrome [RCV003389545] Chr4:102901326..102901327 [GRCh38]
Chr4:103822483..103822484 [GRCh37]
Chr4:4q24
pathogenic
NM_139173.4(SLC9B1):c.804A>G (p.Thr268=) single nucleotide variant not provided [RCV003439437] Chr4:102932149 [GRCh38]
Chr4:103853306 [GRCh37]
Chr4:4q24
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2040
Count of miRNA genes:622
Interacting mature miRNAs:682
Transcripts:ENST00000296422, ENST00000394789, ENST00000503584, ENST00000504216, ENST00000509614, ENST00000510243, ENST00000510559, ENST00000511253, ENST00000512651, ENST00000514340, ENST00000514972
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D4S246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371632,470,620 - 32,470,769UniSTSGRCh37
GRCh374103,809,105 - 103,809,267UniSTSGRCh37
Build 364104,028,541 - 104,028,701RGDNCBI36
Celera4101,108,723 - 101,108,885RGD
Cytogenetic Map4q24UniSTS
HuRef499,545,287 - 99,545,447UniSTS
WI-22115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,809,431 - 103,809,684UniSTSGRCh37
Build 364104,028,866 - 104,029,119RGDNCBI36
Celera4101,109,049 - 101,109,302RGD
Cytogenetic Map4q24UniSTS
HuRef499,545,612 - 99,545,865UniSTS
GeneMap99-GB4 RH Map4496.79UniSTS
Whitehead-RH Map4539.6UniSTS
NCBI RH Map41119.0UniSTS
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS


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 1 1 1 355
Low 622 609 975 74 983 66 2187 280 2081 182 698 892 15 1 786 1211 3 1
Below cutoff 1812 2308 748 548 905 398 2133 1871 1652 233 398 717 159 418 1542 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001100874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC018797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC083826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF213884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF447585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY461581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB526003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ003059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000296422   ⟹   ENSP00000296422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,900,928 - 103,019,705 (-)Ensembl
RefSeq Acc Id: ENST00000394789   ⟹   ENSP00000378269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,885,048 - 103,019,719 (-)Ensembl
RefSeq Acc Id: ENST00000503584   ⟹   ENSP00000426926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,885,049 - 103,019,650 (-)Ensembl
RefSeq Acc Id: ENST00000504216   ⟹   ENSP00000423072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,901,088 - 103,019,666 (-)Ensembl
RefSeq Acc Id: ENST00000509614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,901,097 - 102,910,484 (-)Ensembl
RefSeq Acc Id: ENST00000510243   ⟹   ENSP00000425913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,910,434 - 102,991,712 (-)Ensembl
RefSeq Acc Id: ENST00000510559   ⟹   ENSP00000426325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,989,862 - 103,019,682 (-)Ensembl
RefSeq Acc Id: ENST00000511253   ⟹   ENSP00000425544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,906,277 - 102,911,541 (-)Ensembl
RefSeq Acc Id: ENST00000512651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,901,103 - 102,932,299 (-)Ensembl
RefSeq Acc Id: ENST00000514340   ⟹   ENSP00000426056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,911,434 - 102,991,712 (-)Ensembl
RefSeq Acc Id: ENST00000514972   ⟹   ENSP00000426584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,885,049 - 103,019,661 (-)Ensembl
RefSeq Acc Id: NM_001100874   ⟹   NP_001094344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,885,049 - 103,019,705 (-)NCBI
GRCh374103,806,205 - 103,947,552 (-)NCBI
Build 364104,025,643 - 104,160,325 (-)NCBI Archive
Celera4101,105,822 - 101,237,997 (-)RGD
HuRef499,542,386 - 99,674,649 (-)RGD
CHM1_14103,782,676 - 103,917,369 (-)NCBI
T2T-CHM13v2.04106,199,371 - 106,331,591 (-)NCBI
Sequence:
RefSeq Acc Id: NM_139173   ⟹   NP_631912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,900,928 - 103,019,705 (-)NCBI
GRCh374103,806,205 - 103,947,552 (-)NCBI
Build 364104,041,534 - 104,160,325 (-)NCBI Archive
Celera4101,105,822 - 101,237,997 (-)RGD
HuRef499,542,386 - 99,674,649 (-)RGD
CHM1_14103,798,557 - 103,917,369 (-)NCBI
T2T-CHM13v2.04106,215,269 - 106,331,591 (-)NCBI
Sequence:
RefSeq Acc Id: NR_047513
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,885,049 - 103,019,705 (-)NCBI
GRCh374103,806,205 - 103,947,552 (-)NCBI
HuRef499,542,386 - 99,674,649 (-)NCBI
CHM1_14103,782,676 - 103,917,369 (-)NCBI
T2T-CHM13v2.04106,199,371 - 106,331,591 (-)NCBI
Sequence:
RefSeq Acc Id: NR_047515
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,885,049 - 103,019,705 (-)NCBI
GRCh374103,806,205 - 103,947,552 (-)NCBI
HuRef499,542,386 - 99,674,649 (-)NCBI
CHM1_14103,782,676 - 103,917,369 (-)NCBI
T2T-CHM13v2.04106,199,371 - 106,331,591 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001094344   ⟸   NM_001100874
- Peptide Label: isoform 2
- UniProtKB: A0A140VJQ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_631912   ⟸   NM_139173
- Peptide Label: isoform 1
- UniProtKB: Q8NCV2 (UniProtKB/Swiss-Prot),   Q4ZJI4 (UniProtKB/Swiss-Prot),   Q49A30 (UniProtKB/Swiss-Prot),   C9JBP7 (UniProtKB/Swiss-Prot),   B9EH04 (UniProtKB/Swiss-Prot),   A1KXV1 (UniProtKB/Swiss-Prot),   Q8WVZ0 (UniProtKB/Swiss-Prot),   A0A140VJQ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000426926   ⟸   ENST00000503584
RefSeq Acc Id: ENSP00000423072   ⟸   ENST00000504216
RefSeq Acc Id: ENSP00000296422   ⟸   ENST00000296422
RefSeq Acc Id: ENSP00000425913   ⟸   ENST00000510243
RefSeq Acc Id: ENSP00000426325   ⟸   ENST00000510559
RefSeq Acc Id: ENSP00000425544   ⟸   ENST00000511253
RefSeq Acc Id: ENSP00000378269   ⟸   ENST00000394789
RefSeq Acc Id: ENSP00000426056   ⟸   ENST00000514340
RefSeq Acc Id: ENSP00000426584   ⟸   ENST00000514972
Protein Domains
Cation/H+ exchanger

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4ZJI4-F1-model_v2 AlphaFold Q4ZJI4 1-515 view protein structure

Promoters
RGD ID:6868172
Promoter ID:EPDNEW_H7251
Type:initiation region
Name:SLC9B1_1
Description:solute carrier family 9 member B1
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
GRCh384103,019,651 - 103,019,711EPDNEW
RGD ID:6802502
Promoter ID:HG_KWN:48831
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001100874,   NM_139173,   UC003HWV.2,   UC010ILM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364104,160,126 - 104,160,626 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24244 AgrOrtholog
COSMIC SLC9B1 COSMIC
Ensembl Genes ENSG00000164037 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296422 ENTREZGENE
  ENST00000296422.12 UniProtKB/Swiss-Prot
  ENST00000394789 ENTREZGENE
  ENST00000394789.7 UniProtKB/Swiss-Prot
  ENST00000503584 ENTREZGENE
  ENST00000503584.5 UniProtKB/Swiss-Prot
  ENST00000504216.5 UniProtKB/TrEMBL
  ENST00000510243.5 UniProtKB/Swiss-Prot
  ENST00000510559.1 UniProtKB/TrEMBL
  ENST00000511253.1 UniProtKB/TrEMBL
  ENST00000514340.5 UniProtKB/TrEMBL
  ENST00000514972 ENTREZGENE
  ENST00000514972.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1530.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164037 GTEx
HGNC ID HGNC:24244 ENTREZGENE
Human Proteome Map SLC9B1 Human Proteome Map
InterPro Cation/H_exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na+/solute_symporter_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:150159 UniProtKB/Swiss-Prot
NCBI Gene 150159 ENTREZGENE
OMIM 611527 OMIM
PANTHER PTHR31102 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31102:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Na_H_Exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162397486 PharmGKB
UniProt A0A140VJQ1 ENTREZGENE, UniProtKB/TrEMBL
  A1KXV1 ENTREZGENE
  B9EH04 ENTREZGENE
  C9JBP7 ENTREZGENE
  D6RA80_HUMAN UniProtKB/TrEMBL
  D6RFK4_HUMAN UniProtKB/TrEMBL
  D6RGI9_HUMAN UniProtKB/TrEMBL
  D6RHJ0_HUMAN UniProtKB/TrEMBL
  H0Y9Z0_HUMAN UniProtKB/TrEMBL
  Q49A30 ENTREZGENE
  Q4ZJI4 ENTREZGENE
  Q8NCV2 ENTREZGENE
  Q8WVZ0 ENTREZGENE
  SL9B1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A1KXV1 UniProtKB/Swiss-Prot
  B9EH04 UniProtKB/Swiss-Prot
  C9JBP7 UniProtKB/Swiss-Prot
  Q49A30 UniProtKB/Swiss-Prot
  Q8NCV2 UniProtKB/Swiss-Prot
  Q8WVZ0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC9B1  solute carrier family 9 member B1  SLC9B1  solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1  Symbol and/or name change 5135510 APPROVED
2012-03-27 SLC9B1  solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1  SLC9B1  solute carrier family 9, subfamily B (cation proton antiporter 2), member 1  Symbol and/or name change 5135510 APPROVED
2011-08-02 SLC9B1  solute carrier family 9, subfamily B (cation proton antiporter 2), member 1  NHEDC1  Na+/H+ exchanger domain containing 1  Symbol and/or name change 5135510 APPROVED