NHERF2 (NHERF family PDZ scaffold protein 2) - Rat Genome Database

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Gene: NHERF2 (NHERF family PDZ scaffold protein 2) Homo sapiens
Analyze
Symbol: NHERF2
Name: NHERF family PDZ scaffold protein 2
RGD ID: 733001
HGNC Page HGNC:11076
Description: Enables several functions, including beta-catenin binding activity; identical protein binding activity; and phosphatase binding activity. Predicted to be involved in protein localization to plasma membrane. Predicted to act upstream of or within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction and sensory perception of sound. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: E3KARP; MGC104639; Na(+)/H(+) exchange regulatory cofactor 2; Na(+)/H(+) exchange regulatory cofactor NHE-RF2; NHE3 kinase A regulatory protein E3KARP; NHE3 regulatory factor 2; NHE3RF2; NHERF-2; OCTS2; SIP-1; SIP1; SLC9A3 regulator 2; SLC9A3R2; sodium-hydrogen exchanger regulatory factor 2; sodium/hydrogen exchanger; sodium/hydrogen exchanger 3 kinase A regulatory protein; solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2; solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2; solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2; solute carrier family 9 isoform A3 regulatory factor 2; solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2; SRY-interacting protein 1; TKA-1; tyrosine kinase activator protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,026,902 - 2,039,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,025,356 - 2,039,026 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,076,903 - 2,089,027 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,016,930 - 2,028,484 (+)NCBINCBI36Build 36hg18NCBI36
Build 34162,016,911 - 2,028,481NCBI
Celera162,289,067 - 2,301,134 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,001,109 - 2,013,254 (+)NCBIHuRef
CHM1_1162,076,850 - 2,089,007 (+)NCBICHM1_1
T2T-CHM13v2.0162,046,859 - 2,058,835 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-naphthylamine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
ampicillin  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
coumarin  (EXP)
cyclosporin A  (ISO)
Deoxycorticosterone acetate  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
fenthion  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
irinotecan  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
Mesaconitine  (ISO)
methamphetamine  (ISO)
methotrexate  (EXP)
nickel atom  (ISO)
nicotine  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
potassium chloride  (ISO)
propiconazole  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Expression of the Na+/H+ exchanger regulatory protein family in genetically hypertensive rats. Kobayashi K, etal., J Hypertens. 2004 Sep;22(9):1723-30.
3. The parathyroid hormone receptorsome and the potential for therapeutic intervention. Mahon MJ Curr Drug Targets. 2012 Jan;13(1):116-28.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9054412   PMID:9096337   PMID:9314537   PMID:9671706   PMID:9748260   PMID:9831664   PMID:10455146   PMID:10748023   PMID:10893422   PMID:11099500   PMID:11118213   PMID:11285285  
PMID:11457882   PMID:11751930   PMID:11786550   PMID:11893083   PMID:11948184   PMID:11997330   PMID:12075354   PMID:12080047   PMID:12369822   PMID:12387817   PMID:12421809   PMID:12444019  
PMID:12444200   PMID:12477932   PMID:12499563   PMID:12649600   PMID:12954600   PMID:14531806   PMID:14604981   PMID:14623317   PMID:15143197   PMID:15302935   PMID:15489334   PMID:15523054  
PMID:15553237   PMID:15616553   PMID:15642748   PMID:15665527   PMID:15728708   PMID:16166090   PMID:16203867   PMID:16456542   PMID:16615918   PMID:17110338   PMID:17229887   PMID:17242191  
PMID:17979986   PMID:18029348   PMID:18045536   PMID:18407958   PMID:18729074   PMID:19027007   PMID:19056867   PMID:19091402   PMID:19293149   PMID:19448074   PMID:19555689   PMID:19615732  
PMID:20430067   PMID:20562104   PMID:20618342   PMID:20632170   PMID:20663896   PMID:21134377   PMID:21187068   PMID:21191106   PMID:21423176   PMID:21873635   PMID:21913013   PMID:21980575  
PMID:22082156   PMID:22343917   PMID:22371496   PMID:22466651   PMID:22587461   PMID:22939629   PMID:23284683   PMID:23376485   PMID:23414517   PMID:23533145   PMID:23612977   PMID:23798571  
PMID:23985317   PMID:24255178   PMID:24613836   PMID:24760985   PMID:25468996   PMID:25519916   PMID:25796446   PMID:26186194   PMID:26310448   PMID:26344197   PMID:26618866   PMID:27018634  
PMID:27173435   PMID:27880917   PMID:28360110   PMID:28392297   PMID:28514442   PMID:30194290   PMID:30472188   PMID:30726710   PMID:31091453   PMID:31324722   PMID:31527615   PMID:31597772  
PMID:31753913   PMID:32203420   PMID:32296183   PMID:32393512   PMID:33545068   PMID:33596420   PMID:33961781   PMID:34079125   PMID:34709727   PMID:34835087   PMID:35253629   PMID:35271311  
PMID:35337019   PMID:35831314   PMID:35944360   PMID:36012204   PMID:36215168   PMID:36543142   PMID:37167062   PMID:37232246   PMID:37589075   PMID:37616343   PMID:38117590   PMID:38803224  


Genomics

Comparative Map Data
NHERF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,026,902 - 2,039,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,025,356 - 2,039,026 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,076,903 - 2,089,027 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,016,930 - 2,028,484 (+)NCBINCBI36Build 36hg18NCBI36
Build 34162,016,911 - 2,028,481NCBI
Celera162,289,067 - 2,301,134 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,001,109 - 2,013,254 (+)NCBIHuRef
CHM1_1162,076,850 - 2,089,007 (+)NCBICHM1_1
T2T-CHM13v2.0162,046,859 - 2,058,835 (+)NCBIT2T-CHM13v2.0
Nherf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391724,858,255 - 24,869,279 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1724,858,260 - 24,869,301 (-)EnsemblGRCm39 Ensembl
GRCm381724,639,281 - 24,650,305 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,639,286 - 24,650,327 (-)EnsemblGRCm38mm10GRCm38
MGSCv371724,776,227 - 24,787,250 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,366,888 - 24,377,878 (-)NCBIMGSCv36mm8
Celera1725,161,671 - 25,172,581 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.43NCBI
Nherf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,167,005 - 14,177,519 (-)NCBIGRCr8
mRatBN7.21013,662,461 - 13,672,975 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1013,662,461 - 13,673,049 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1018,409,255 - 18,419,776 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01017,898,101 - 17,908,626 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01013,397,300 - 13,407,821 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01014,003,330 - 14,015,066 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1014,003,320 - 14,013,870 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01013,820,310 - 13,830,824 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41013,890,293 - 13,900,807 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11013,891,061 - 13,900,879 (-)NCBI
Celera1013,342,543 - 13,353,058 (-)NCBICelera
Cytogenetic Map10q12NCBI
Nherf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,224,214 - 15,235,379 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,224,214 - 15,235,372 (-)NCBIChiLan1.0ChiLan1.0
NHERF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2182,307,556 - 2,319,737 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1166,089,244 - 6,101,377 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v016664,310 - 676,640 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1162,121,215 - 2,127,069 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl162,115,583 - 2,127,069 (+)Ensemblpanpan1.1panPan2
NHERF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1638,905,070 - 38,915,028 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl638,905,635 - 38,942,774 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,144,686 - 40,155,043 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,214,038 - 39,216,647 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl639,213,735 - 39,216,642 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1638,898,838 - 38,909,179 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0638,871,153 - 38,881,488 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,349,958 - 39,360,323 (-)NCBIUU_Cfam_GSD_1.0
Nherf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,703,346 - 104,707,696 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366942,000,854 - 2,006,567 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366942,000,977 - 2,006,102 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NHERF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl339,942,367 - 39,952,825 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1339,942,366 - 39,952,824 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2342,205,136 - 42,239,173 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NHERF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,923,773 - 1,935,641 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl51,924,131 - 1,939,062 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606829,129,026 - 29,140,946 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nherf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624913210,315 - 221,538 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624913210,315 - 220,936 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NHERF2
56 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_001130012.3(NHERF2):c.252G>A (p.Arg84=) single nucleotide variant not provided [RCV000054669] Chr16:2029620 [GRCh38]
Chr16:2079621 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.486G>A (p.Gly162=) single nucleotide variant not provided [RCV000054670] Chr16:2036395 [GRCh38]
Chr16:2086396 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3 copy number gain See cases [RCV000135695] Chr16:1850978..2116369 [GRCh38]
Chr16:1900979..2166370 [GRCh37]
Chr16:1840980..2106371 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:2025885-2088686)x1 copy number loss See cases [RCV000140857] Chr16:2025885..2088686 [GRCh38]
Chr16:2075886..2138687 [GRCh37]
Chr16:2015887..2078688 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
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 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
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
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
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
NM_001130012.3(NHERF2):c.584G>A (p.Arg195Gln) single nucleotide variant not specified [RCV004293709] Chr16:2036493 [GRCh38]
Chr16:2086494 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.922G>A (p.Glu308Lys) single nucleotide variant not specified [RCV004288000] Chr16:2037892 [GRCh38]
Chr16:2087893 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.950G>A (p.Arg317Gln) single nucleotide variant not specified [RCV004326994] Chr16:2037920 [GRCh38]
Chr16:2087921 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1 copy number loss not provided [RCV000683746] Chr16:1734363..2285561 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3		 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 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(chr16:1807896-2311160)x3 copy number gain not provided [RCV000738986] Chr16:1807896..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1813658-2319717)x3 copy number gain not provided [RCV000738989] Chr16:1813658..2319717 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2018777-2087562)x3 copy number gain not provided [RCV000751513] Chr16:2018777..2087562 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2022074-2081503)x3 copy number gain not provided [RCV000751514] Chr16:2022074..2081503 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2024204-2087562)x3 copy number gain not provided [RCV000751515] Chr16:2024204..2087562 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2024205-2087547)x3 copy number gain not provided [RCV000751517] Chr16:2024205..2087547 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2026891-2081503)x3 copy number gain not provided [RCV000751520] Chr16:2026891..2081503 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2027115-2087562)x3 copy number gain not provided [RCV000751521] Chr16:2027115..2087562 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2036937-2093576)x1 copy number loss not provided [RCV000751522] Chr16:2036937..2093576 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_1203718)_(2185710_?)del deletion Tuberous sclerosis 2 [RCV001033886] Chr16:1203718..2185710 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001130012.3(NHERF2):c.664G>A (p.Glu222Lys) single nucleotide variant not provided [RCV000962539] Chr16:2036797 [GRCh38]
Chr16:2086798 [GRCh37]
Chr16:16p13.3		 benign
NM_001130012.3(NHERF2):c.84G>C (p.Glu28Asp) single nucleotide variant not provided [RCV000962384] Chr16:2027089 [GRCh38]
Chr16:2077090 [GRCh37]
Chr16:16p13.3		 benign
NM_001130012.3(NHERF2):c.54G>T (p.Glu18Asp) single nucleotide variant not specified [RCV004282458] Chr16:2027059 [GRCh38]
Chr16:2077060 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3 copy number gain not provided [RCV000845878] Chr16:2070917..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_1523498)_(2064447_?)del deletion Tuberous sclerosis 2 [RCV001032344] Chr16:1573499..2114448 [GRCh37]
Chr16:16p13.3		 pathogenic
Single allele inversion Hereditary cancer-predisposing syndrome [RCV000850149] Chr16:1566500..2119769 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2034220)_(2152787_?)del deletion Tuberous sclerosis 2 [RCV003105244] Chr16:2034220..2152787 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2011148-2161281)x3 copy number gain not provided [RCV001259758] Chr16:2011148..2161281 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.1851807_2093151del deletion Tuberous sclerosis 2 [RCV001257345] Chr16:1851807..2093151 [GRCh38]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2003468)_(2126543_?)del deletion Tuberous sclerosis 2 [RCV001949704] Chr16:2003468..2126543 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3 copy number gain not provided [RCV001827737] Chr16:1830141..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1847662-2653144) copy number gain not specified [RCV002052502] Chr16:1847662..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2034220)_(2136892_?)del deletion Tuberous sclerosis 2 [RCV001939677] Chr16:2034220..2136892 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2029297)_(2096295_?)del deletion not provided [RCV001958665] Chr16:2029297..2096295 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2079753)_(2100460_?)del deletion Tuberous sclerosis 2 [RCV003111445] Chr16:2079753..2100460 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001130012.3(NHERF2):c.38G>T (p.Arg13Leu) single nucleotide variant not specified [RCV004312611] Chr16:2027043 [GRCh38]
Chr16:2077044 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.1903155_2093402del deletion Tuberous sclerosis 2 [RCV002267197] Chr16:1903155..2093402 [GRCh38]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2021144-2146432)x1 copy number loss not provided [RCV002472911] Chr16:2021144..2146432 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3 copy number gain not provided [RCV002473837] Chr16:1942430..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1 copy number loss not provided [RCV002472534] Chr16:2021144..2266791 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001130012.3(NHERF2):c.200A>G (p.Glu67Gly) single nucleotide variant not specified [RCV004304404] Chr16:2027205 [GRCh38]
Chr16:2077206 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.758C>T (p.Pro253Leu) single nucleotide variant not specified [RCV004253983] Chr16:2036964 [GRCh38]
Chr16:2086965 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.83A>G (p.Glu28Gly) single nucleotide variant not specified [RCV004260710] Chr16:2027088 [GRCh38]
Chr16:2077089 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 copy number loss not provided [RCV003222891] Chr16:811896..2130379 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001130012.3(NHERF2):c.542C>T (p.Pro181Leu) single nucleotide variant not specified [RCV004249993] Chr16:2036451 [GRCh38]
Chr16:2086452 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001130012.3(NHERF2):c.623G>A (p.Arg208His) single nucleotide variant not specified [RCV004342482] Chr16:2036756 [GRCh38]
Chr16:2086757 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.421A>G (p.Ser141Gly) single nucleotide variant not specified [RCV004366153] Chr16:2036330 [GRCh38]
Chr16:2086331 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 copy number gain not provided [RCV003485080] Chr16:1054247..2592737 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001130012.3(NHERF2):c.559C>T (p.Arg187Cys) single nucleotide variant not provided [RCV003395226] Chr16:2036468 [GRCh38]
Chr16:2086469 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001130012.3(NHERF2):c.511C>T (p.Arg171Trp) single nucleotide variant not provided [RCV003390618] Chr16:2036420 [GRCh38]
Chr16:2086421 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:2071822-2155562)x1 copy number loss not specified [RCV003987179] Chr16:2071822..2155562 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001130012.3(NHERF2):c.329G>A (p.Arg110Gln) single nucleotide variant not specified [RCV004487847] Chr16:2029697 [GRCh38]
Chr16:2079698 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.357G>C (p.Trp119Cys) single nucleotide variant not specified [RCV004487855] Chr16:2029725 [GRCh38]
Chr16:2079726 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.362C>T (p.Pro121Leu) single nucleotide variant not specified [RCV004487857] Chr16:2029730 [GRCh38]
Chr16:2079731 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.464G>A (p.Arg155Gln) single nucleotide variant not specified [RCV004490343] Chr16:2036373 [GRCh38]
Chr16:2086374 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.530G>A (p.Arg177His) single nucleotide variant not specified [RCV004490351] Chr16:2036439 [GRCh38]
Chr16:2086440 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.556G>A (p.Ala186Thr) single nucleotide variant not specified [RCV004490365] Chr16:2036465 [GRCh38]
Chr16:2086466 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.718C>T (p.Arg240Trp) single nucleotide variant not specified [RCV004490404] Chr16:2036851 [GRCh38]
Chr16:2086852 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.733G>A (p.Glu245Lys) single nucleotide variant not specified [RCV004490408] Chr16:2036866 [GRCh38]
Chr16:2086867 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.815C>T (p.Ser272Leu) single nucleotide variant not specified [RCV004490411] Chr16:2037560 [GRCh38]
Chr16:2087561 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.841G>T (p.Asp281Tyr) single nucleotide variant not specified [RCV004490423] Chr16:2037586 [GRCh38]
Chr16:2087587 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.583C>T (p.Arg195Trp) single nucleotide variant not specified [RCV004490375] Chr16:2036492 [GRCh38]
Chr16:2086493 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.992G>A (p.Arg331His) single nucleotide variant not specified [RCV004490442] Chr16:2037962 [GRCh38]
Chr16:2087963 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.313G>A (p.Glu105Lys) single nucleotide variant not specified [RCV004487846] Chr16:2029681 [GRCh38]
Chr16:2079682 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.343G>C (p.Ala115Pro) single nucleotide variant not specified [RCV004487850] Chr16:2029711 [GRCh38]
Chr16:2079712 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.528C>G (p.Ile176Met) single nucleotide variant not specified [RCV004490349] Chr16:2036437 [GRCh38]
Chr16:2086438 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.671G>A (p.Arg224Gln) single nucleotide variant not specified [RCV004490393] Chr16:2036804 [GRCh38]
Chr16:2086805 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.839C>T (p.Ser280Phe) single nucleotide variant not specified [RCV004490413] Chr16:2037584 [GRCh38]
Chr16:2087585 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.512G>C (p.Arg171Pro) single nucleotide variant not specified [RCV004490346] Chr16:2036421 [GRCh38]
Chr16:2086422 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.719G>A (p.Arg240Gln) single nucleotide variant not specified [RCV004490406] Chr16:2036852 [GRCh38]
Chr16:2086853 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.574G>A (p.Ala192Thr) single nucleotide variant not specified [RCV004490371] Chr16:2036483 [GRCh38]
Chr16:2086484 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.251G>A (p.Arg84Gln) single nucleotide variant not specified [RCV004487843] Chr16:2029619 [GRCh38]
Chr16:2079620 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.571C>G (p.Arg191Gly) single nucleotide variant not specified [RCV004490368] Chr16:2036480 [GRCh38]
Chr16:2086481 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.712C>T (p.Arg238Trp) single nucleotide variant not specified [RCV004490396] Chr16:2036845 [GRCh38]
Chr16:2086846 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.713G>A (p.Arg238Gln) single nucleotide variant not specified [RCV004490401] Chr16:2036846 [GRCh38]
Chr16:2086847 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.802G>A (p.Gly268Ser) single nucleotide variant not specified [RCV004490410] Chr16:2037547 [GRCh38]
Chr16:2087548 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.914C>T (p.Thr305Met) single nucleotide variant not specified [RCV004490427] Chr16:2037884 [GRCh38]
Chr16:2087885 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.622C>T (p.Arg208Cys) single nucleotide variant not specified [RCV004490386] Chr16:2036755 [GRCh38]
Chr16:2086756 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.617G>C (p.Gly206Ala) single nucleotide variant not specified [RCV004490384] Chr16:2036750 [GRCh38]
Chr16:2086751 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.250C>T (p.Arg84Trp) single nucleotide variant not specified [RCV004487839] Chr16:2029618 [GRCh38]
Chr16:2079619 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.917C>T (p.Ala306Val) single nucleotide variant not specified [RCV004490429] Chr16:2037887 [GRCh38]
Chr16:2087888 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_1607916)_(2130398_?)dup duplication Tuberous sclerosis 2 [RCV004582694] Chr16:1607916..2130398 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_1822222)_(2550959_?)dup duplication Developmental and epileptic encephalopathy, 1 [RCV004582753] Chr16:1822222..2550959 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.473C>T (p.Pro158Leu) single nucleotide variant not specified [RCV004643644] Chr16:2036382 [GRCh38]
Chr16:2086383 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.428C>T (p.Pro143Leu) single nucleotide variant not specified [RCV004643645] Chr16:2036337 [GRCh38]
Chr16:2086338 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.293G>A (p.Arg98Gln) single nucleotide variant not specified [RCV004647083] Chr16:2029661 [GRCh38]
Chr16:2079662 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001130012.3(NHERF2):c.752C>T (p.Pro251Leu) single nucleotide variant not specified [RCV004647084] Chr16:2036958 [GRCh38]
Chr16:2086959 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3529
Count of miRNA genes:833
Interacting mature miRNAs:1006
Transcripts:ENST00000424542, ENST00000432365, ENST00000561844, ENST00000563587, ENST00000564033, ENST00000565086, ENST00000565855, ENST00000566198, ENST00000567504
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407383467GWAS1032443_Hhematocrit QTL GWAS1032443 (human)3e-15hematocrithematocrit (CMO:0000037)1620364202036421Human
596968115GWAS1087634_Hsystolic blood pressure QTL GWAS1087634 (human)3e-21systolic blood pressuresystolic blood pressure (CMO:0000004)1620364202036421Human
407380623GWAS1029599_Hhemoglobin measurement QTL GWAS1029599 (human)5e-19hemoglobin measurementhemoglobin measurement (CMO:0000508)1620364202036421Human
407386112GWAS1035088_Hhematocrit QTL GWAS1035088 (human)6e-14hematocrithematocrit (CMO:0000037)1620364202036421Human
596967293GWAS1086812_Hdiastolic blood pressure QTL GWAS1086812 (human)1e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)1620390052039006Human
407055020GWAS703996_Hhemoglobin measurement QTL GWAS703996 (human)3e-23hemoglobin measurementhemoglobin measurement (CMO:0000508)1620364202036421Human
407369559GWAS1018535_Hsystolic blood pressure QTL GWAS1018535 (human)0.0000003systolic blood pressuresystolic blood pressure (CMO:0000004)1620364202036421Human
596967044GWAS1086563_Hdiastolic blood pressure QTL GWAS1086563 (human)2e-17diastolic blood pressurediastolic blood pressure (CMO:0000005)1620364202036421Human
407069938GWAS718914_Hdiastolic blood pressure QTL GWAS718914 (human)1e-29diastolic blood pressurediastolic blood pressure (CMO:0000005)1620364202036421Human
596968480GWAS1087999_Hsystolic blood pressure QTL GWAS1087999 (human)1e-13systolic blood pressuresystolic blood pressure (CMO:0000004)1620390052039006Human
596961858GWAS1081377_Hmetabolic syndrome QTL GWAS1081377 (human)6e-14metabolic syndrome1620390052039006Human
407069940GWAS718916_Hsystolic blood pressure QTL GWAS718916 (human)1e-30systolic blood pressuresystolic blood pressure (CMO:0000004)1620364202036421Human
407067448GWAS716424_Hpulse pressure measurement QTL GWAS716424 (human)5e-10reticulocyte counttotal reticulocyte count (CMO:0003020)1620364202036421Human
407383891GWAS1032867_Herythrocyte count QTL GWAS1032867 (human)1e-16erythrocyte countred blood cell count (CMO:0000025)1620364202036421Human
407056221GWAS705197_Hhemoglobin measurement QTL GWAS705197 (human)4e-21hemoglobin measurementhemoglobin measurement (CMO:0000508)1620364202036421Human

Markers in Region
STS-Z50150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37162,088,353 - 2,088,457UniSTSGRCh37
Build 36162,028,354 - 2,028,458RGDNCBI36
Celera162,300,459 - 2,300,564RGD
Cytogenetic Map16p13.3UniSTS
HuRef162,012,592 - 2,012,684UniSTS
GeneMap99-GB4 RH Map1664.02UniSTS
RH48490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37162,088,251 - 2,088,408UniSTSGRCh37
Build 36162,028,252 - 2,028,409RGDNCBI36
Celera162,300,357 - 2,300,514RGD
Cytogenetic Map16p13.3UniSTS
HuRef162,012,490 - 2,012,647UniSTS
GeneMap99-GB4 RH Map1665.31UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2249 4974 1726 2351 6 624 1856 465 2270 7215 6381 52 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB016243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ447156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ687174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX377861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB961565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB495688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z50150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000424542   ⟹   ENSP00000408005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,026,902 - 2,039,026 (+)Ensembl
Ensembl Acc Id: ENST00000432365   ⟹   ENSP00000402857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,026,928 - 2,038,489 (+)Ensembl
Ensembl Acc Id: ENST00000561844   ⟹   ENSP00000457755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,029,754 - 2,038,024 (+)Ensembl
Ensembl Acc Id: ENST00000563587   ⟹   ENSP00000455909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,029,527 - 2,038,165 (+)Ensembl
Ensembl Acc Id: ENST00000564033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,035,981 - 2,038,128 (+)Ensembl
Ensembl Acc Id: ENST00000565086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,032,812 - 2,036,823 (+)Ensembl
Ensembl Acc Id: ENST00000565855   ⟹   ENSP00000454690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,033,264 - 2,037,980 (+)Ensembl
Ensembl Acc Id: ENST00000566198   ⟹   ENSP00000456895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,033,271 - 2,038,421 (+)Ensembl
Ensembl Acc Id: ENST00000567504   ⟹   ENSP00000454361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,025,356 - 2,036,389 (+)Ensembl
RefSeq Acc Id: NM_001130012   ⟹   NP_001123484
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,026,902 - 2,039,026 (+)NCBI
GRCh37162,076,869 - 2,089,027 (+)NCBI
HuRef162,001,109 - 2,013,254 (+)NCBI
CHM1_1162,076,850 - 2,089,007 (+)NCBI
T2T-CHM13v2.0162,046,859 - 2,058,835 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001252073   ⟹   NP_001239002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,033,294 - 2,039,026 (+)NCBI
GRCh37162,076,869 - 2,089,027 (+)NCBI
HuRef162,001,109 - 2,013,254 (+)NCBI
CHM1_1162,083,246 - 2,089,007 (+)NCBI
T2T-CHM13v2.0162,053,249 - 2,058,835 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001252075   ⟹   NP_001239004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,033,294 - 2,039,026 (+)NCBI
GRCh37162,076,869 - 2,089,027 (+)NCBI
HuRef162,001,109 - 2,013,254 (+)NCBI
CHM1_1162,083,246 - 2,089,007 (+)NCBI
T2T-CHM13v2.0162,053,249 - 2,058,835 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001252076   ⟹   NP_001239005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,033,294 - 2,039,026 (+)NCBI
GRCh37162,076,869 - 2,089,027 (+)NCBI
HuRef162,001,109 - 2,013,254 (+)NCBI
CHM1_1162,083,246 - 2,089,007 (+)NCBI
T2T-CHM13v2.0162,053,249 - 2,058,835 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004785   ⟹   NP_004776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,026,902 - 2,039,026 (+)NCBI
GRCh37162,076,869 - 2,089,027 (+)NCBI
Build 36162,016,930 - 2,028,484 (+)NCBI Archive
HuRef162,001,109 - 2,013,254 (+)NCBI
CHM1_1162,076,850 - 2,089,007 (+)NCBI
T2T-CHM13v2.0162,046,859 - 2,058,835 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255702   ⟹   XP_005255759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,033,294 - 2,038,482 (+)NCBI
GRCh37162,076,869 - 2,089,027 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720981   ⟹   XP_006721044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,033,592 - 2,039,026 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023894   ⟹   XP_016879383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,033,294 - 2,039,026 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450492   ⟹   XP_024306260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,033,589 - 2,039,026 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434923   ⟹   XP_047290879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,026,902 - 2,038,482 (+)NCBI
RefSeq Acc Id: XM_047434924   ⟹   XP_047290880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,028,176 - 2,039,026 (+)NCBI
RefSeq Acc Id: XM_054314427   ⟹   XP_054170402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,053,249 - 2,058,835 (+)NCBI
RefSeq Acc Id: XM_054314428   ⟹   XP_054170403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,053,249 - 2,058,835 (+)NCBI
RefSeq Acc Id: XM_054314429   ⟹   XP_054170404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,053,249 - 2,058,835 (+)NCBI
RefSeq Acc Id: XM_054314430   ⟹   XP_054170405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,046,859 - 2,058,835 (+)NCBI
RefSeq Acc Id: XM_054314431   ⟹   XP_054170406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,048,951 - 2,058,835 (+)NCBI
RefSeq Acc Id: XM_054314432   ⟹   XP_054170407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,048,129 - 2,058,835 (+)NCBI
RefSeq Acc Id: XM_054314433   ⟹   XP_054170408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,055,421 - 2,058,835 (+)NCBI
RefSeq Acc Id: XM_054314434   ⟹   XP_054170409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,055,421 - 2,058,835 (+)NCBI
RefSeq Acc Id: XM_054314435   ⟹   XP_054170410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,055,421 - 2,058,835 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001123484 (Get FASTA)   NCBI Sequence Viewer  
  NP_001239002 (Get FASTA)   NCBI Sequence Viewer  
  NP_001239004 (Get FASTA)   NCBI Sequence Viewer  
  NP_001239005 (Get FASTA)   NCBI Sequence Viewer  
  NP_004776 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255759 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721044 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879383 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306260 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290879 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290880 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170402 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170403 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170404 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170405 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170406 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170407 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170408 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170409 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170410 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB53042 (Get FASTA)   NCBI Sequence Viewer  
  AAC34208 (Get FASTA)   NCBI Sequence Viewer  
  AAC52090 (Get FASTA)   NCBI Sequence Viewer  
  AAC63061 (Get FASTA)   NCBI Sequence Viewer  
  AAH14513 (Get FASTA)   NCBI Sequence Viewer  
  AAH69014 (Get FASTA)   NCBI Sequence Viewer  
  AAI06002 (Get FASTA)   NCBI Sequence Viewer  
  BAA32696 (Get FASTA)   NCBI Sequence Viewer  
  BAA33216 (Get FASTA)   NCBI Sequence Viewer  
  CAA90511 (Get FASTA)   NCBI Sequence Viewer  
  EAW85563 (Get FASTA)   NCBI Sequence Viewer  
  EAW85564 (Get FASTA)   NCBI Sequence Viewer  
  EAW85565 (Get FASTA)   NCBI Sequence Viewer  
  EAW85566 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000402857
  ENSP00000402857.2
  ENSP00000408005
  ENSP00000408005.2
  ENSP00000454361.1
  ENSP00000454690
  ENSP00000454690.1
  ENSP00000455909
  ENSP00000455909.1
  ENSP00000456895
  ENSP00000456895.1
  ENSP00000457755
  ENSP00000457755.1
GenBank Protein Q15599 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001123484   ⟸   NM_001130012
- Peptide Label: isoform a
- UniProtKB: O00556 (UniProtKB/Swiss-Prot),   O00272 (UniProtKB/Swiss-Prot),   H3BSV6 (UniProtKB/Swiss-Prot),   D3DU85 (UniProtKB/Swiss-Prot),   D3DU84 (UniProtKB/Swiss-Prot),   Q3KQY7 (UniProtKB/Swiss-Prot),   Q15599 (UniProtKB/Swiss-Prot),   Q6NTG0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004776   ⟸   NM_004785
- Peptide Label: isoform b
- UniProtKB: Q6NTG0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001239002   ⟸   NM_001252073
- Peptide Label: isoform c
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001239005   ⟸   NM_001252076
- Peptide Label: isoform e
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001239004   ⟸   NM_001252075
- Peptide Label: isoform d
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005255759   ⟸   XM_005255702
- Peptide Label: isoform X2
- UniProtKB: H3BUQ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006721044   ⟸   XM_006720981
- Peptide Label: isoform X5
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879383   ⟸   XM_017023894
- Peptide Label: isoform X1
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306260   ⟸   XM_024450492
- Peptide Label: isoform X6
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000408005   ⟸   ENST00000424542
Ensembl Acc Id: ENSP00000457755   ⟸   ENST00000561844
Ensembl Acc Id: ENSP00000455909   ⟸   ENST00000563587
Ensembl Acc Id: ENSP00000402857   ⟸   ENST00000432365
Ensembl Acc Id: ENSP00000454690   ⟸   ENST00000565855
Ensembl Acc Id: ENSP00000456895   ⟸   ENST00000566198
Ensembl Acc Id: ENSP00000454361   ⟸   ENST00000567504
RefSeq Acc Id: XP_047290879   ⟸   XM_047434923
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047290880   ⟸   XM_047434924
- Peptide Label: isoform X4
- UniProtKB: H3BQS0 (UniProtKB/TrEMBL),   H3BN50 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170405   ⟸   XM_054314430
- Peptide Label: isoform X9
- UniProtKB: Q6NTG0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170407   ⟸   XM_054314432
- Peptide Label: isoform X11
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170406   ⟸   XM_054314431
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054170402   ⟸   XM_054314427
- Peptide Label: isoform X7
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170403   ⟸   XM_054314428
- Peptide Label: isoform X8
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170404   ⟸   XM_054314429
- Peptide Label: isoform X1
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170408   ⟸   XM_054314433
- Peptide Label: isoform X12
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170409   ⟸   XM_054314434
- Peptide Label: isoform X5
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170410   ⟸   XM_054314435
- Peptide Label: isoform X6
- UniProtKB: H3BN50 (UniProtKB/TrEMBL)
Protein Domains
PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15599-F1-model_v2 AlphaFold Q15599 1-337 view protein structure

Promoters
RGD ID:6793456
Promoter ID:HG_KWN:22757
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_001130012,   NM_004785
Position:
Human AssemblyChrPosition (strand)Source
Build 36162,016,694 - 2,017,194 (+)MPROMDB
RGD ID:6793458
Promoter ID:HG_KWN:22758
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:UC002COK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36162,023,244 - 2,023,744 (+)MPROMDB
RGD ID:7230985
Promoter ID:EPDNEW_H21238
Type:initiation region
Name:SLC9A3R2_1
Description:SLC9A3 regulator 2
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
GRCh38162,026,902 - 2,026,962EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11076 AgrOrtholog
COSMIC NHERF2 COSMIC
Ensembl Genes ENSG00000065054 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000424542 ENTREZGENE
  ENST00000424542.7 UniProtKB/Swiss-Prot
  ENST00000432365 ENTREZGENE
  ENST00000432365.6 UniProtKB/Swiss-Prot
  ENST00000561844 ENTREZGENE
  ENST00000561844.5 UniProtKB/TrEMBL
  ENST00000563587 ENTREZGENE
  ENST00000563587.5 UniProtKB/TrEMBL
  ENST00000565855 ENTREZGENE
  ENST00000565855.5 UniProtKB/TrEMBL
  ENST00000566198 ENTREZGENE
  ENST00000566198.1 UniProtKB/Swiss-Prot
  ENST00000567504.5 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000065054 GTEx
HGNC ID HGNC:11076 ENTREZGENE
Human Proteome Map NHERF2 Human Proteome Map
InterPro EBP50_C-term UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NHER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NHERF-1/NHERF-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9351 UniProtKB/Swiss-Prot
NCBI Gene 9351 ENTREZGENE
OMIM 606553 OMIM
PANTHER PDZ DOMAIN CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14191:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EBP50_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35932 PharmGKB
PIRSF EBP50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DU84 ENTREZGENE
  D3DU85 ENTREZGENE
  H3BMF5_HUMAN UniProtKB/TrEMBL
  H3BN50 ENTREZGENE, UniProtKB/TrEMBL
  H3BQS0 ENTREZGENE, UniProtKB/TrEMBL
  H3BSV6 ENTREZGENE
  H3BUQ9 ENTREZGENE, UniProtKB/TrEMBL
  NHRF2_HUMAN UniProtKB/Swiss-Prot
  O00272 ENTREZGENE
  O00556 ENTREZGENE
  Q15599 ENTREZGENE
  Q3KQY7 ENTREZGENE
  Q6NTG0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D3DU84 UniProtKB/Swiss-Prot
  D3DU85 UniProtKB/Swiss-Prot
  H3BSV6 UniProtKB/Swiss-Prot
  O00272 UniProtKB/Swiss-Prot
  O00556 UniProtKB/Swiss-Prot
  Q3KQY7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-10-31 NHERF2  NHERF family PDZ scaffold protein 2  SLC9A3R2  SLC9A3 regulator 2  Symbol and/or name change 19259463 PROVISIONAL
2016-02-23 SLC9A3R2  SLC9A3 regulator 2  SLC9A3R2  solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2  Symbol and/or name change 5135510 APPROVED
2012-03-27 SLC9A3R2  solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2  SLC9A3R2  solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2  Symbol and/or name change 5135510 APPROVED
2011-11-08 SLC9A3R2  solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2  SLC9A3R2  solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2  Symbol and/or name change 5135510 APPROVED