AKR1B15 (aldo-keto reductase family 1 member B15) - Rat Genome Database

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Gene: AKR1B15 (aldo-keto reductase family 1 member B15) Homo sapiens
Analyze
Symbol: AKR1B15
Name: aldo-keto reductase family 1 member B15
RGD ID: 3516654
HGNC Page HGNC:37281
Description: Enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Predicted to be involved in estrogen biosynthetic process. Located in cytosol and mitochondrion.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AKR1B10L; AKR1B10L, AK1R1B7; AKR1R1B7; aldo-keto reductase family 1, member B10-like; aldo-keto reductase family 1, member B15; estradiol 17-beta-dehydrogenase AKR1B15; farnesol dehydrogenase; putative aldo-keto reductase family 1 member B15; testosterone 17beta-dehydrogenase
RGD Orthologs
Mouse
Rat
Bonobo
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
GRCh387134,549,110 - 134,579,869 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7134,549,110 - 134,579,875 (+)EnsemblGRCh38hg38GRCh38
GRCh377134,233,862 - 134,264,621 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367133,900,773 - 133,914,841 (+)NCBINCBI36Build 36hg18NCBI36
Celera7128,971,267 - 129,002,011 (+)NCBICelera
Cytogenetic Map7q33NCBI
HuRef7128,535,689 - 128,566,441 (+)NCBIHuRef
CHM1_17134,168,123 - 134,198,839 (+)NCBICHM1_1
T2T-CHM13v2.07135,857,188 - 135,887,905 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27133,578,165 - 133,608,909 (+)NCBI
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
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-palmitoylglycerol  (EXP)
4-Hydroxybenzophenone  (ISO)
4-nitrobenzaldehyde  (EXP)
4-nitrophenol  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinal  (ISO)
antimycin A  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
choline  (ISO)
cisplatin  (EXP)
clothianidin  (ISO)
copper(II) sulfate  (EXP)
cyanocob(III)alamin  (ISO)
cyproconazole  (ISO)
cytarabine  (EXP)
D-glyceraldehyde  (EXP)
delphinidin  (ISO)
deoxynivalenol  (ISO)
dibenzofurans  (ISO)
diclofenac  (ISO)
doramapimod  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
flurbiprofen  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
glyceraldehyde  (EXP)
glycine betaine  (ISO)
GW 4064  (ISO)
ibuprofen  (ISO)
inulin  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
O-methyleugenol  (EXP)
PCB138  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
selenomethionine  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
temozolomide  (EXP)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
urethane  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA)
mitochondrial matrix  (TAS)
mitochondrion  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:12690205   PMID:20834067   PMID:20877624   PMID:21276782   PMID:21873635   PMID:22277967   PMID:22970857   PMID:25577493   PMID:26186194   PMID:26222439   PMID:26344197  
PMID:28514442   PMID:32296183   PMID:33961781   PMID:37866880  


Genomics

Comparative Map Data
AKR1B15
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387134,549,110 - 134,579,869 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7134,549,110 - 134,579,875 (+)EnsemblGRCh38hg38GRCh38
GRCh377134,233,862 - 134,264,621 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367133,900,773 - 133,914,841 (+)NCBINCBI36Build 36hg18NCBI36
Celera7128,971,267 - 129,002,011 (+)NCBICelera
Cytogenetic Map7q33NCBI
HuRef7128,535,689 - 128,566,441 (+)NCBIHuRef
CHM1_17134,168,123 - 134,198,839 (+)NCBICHM1_1
T2T-CHM13v2.07135,857,188 - 135,887,905 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27133,578,165 - 133,608,909 (+)NCBI
Akr1b7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39634,389,297 - 34,400,072 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl634,389,269 - 34,400,077 (+)EnsemblGRCm39 Ensembl
GRCm38634,412,362 - 34,423,137 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl634,412,334 - 34,423,142 (+)EnsemblGRCm38mm10GRCm38
MGSCv37634,362,362 - 34,373,137 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36634,342,548 - 34,353,300 (+)NCBIMGSCv36mm8
Celera634,408,772 - 34,419,547 (+)NCBICelera
Cytogenetic Map6B1NCBI
cM Map614.95NCBI
Akr1b8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8463,964,421 - 63,976,995 (+)NCBIGRCr8
mRatBN7.2462,997,241 - 63,009,815 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl462,997,161 - 63,010,097 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx467,947,613 - 67,960,432 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0463,863,335 - 63,876,153 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0462,265,746 - 62,278,566 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0461,772,064 - 61,784,637 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl461,771,970 - 61,828,657 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0461,487,880 - 61,504,096 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4461,714,282 - 61,726,856 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1461,990,411 - 62,002,986 (+)NCBI
Celera458,050,533 - 58,063,107 (+)NCBICelera
Cytogenetic Map4q22NCBI
LOC100967410
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26171,365,017 - 171,395,727 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1723,375,272 - 23,405,982 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07126,505,251 - 126,538,195 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17139,030,296 - 139,044,416 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7139,029,410 - 139,044,354 (+)Ensemblpanpan1.1panPan2

Variants

.
Variants in AKR1B15
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
NM_001080538.2(AKR1B15):c.344C>T (p.Pro115Leu) single nucleotide variant Malignant melanoma [RCV000067654] Chr7:134569438 [GRCh38]
Chr7:134254190 [GRCh37]
Chr7:133904730 [NCBI36]
Chr7:7q33
not provided
NM_001080538.2(AKR1B15):c.470G>A (p.Gly157Asp) single nucleotide variant Malignant melanoma [RCV000067655] Chr7:134571638 [GRCh38]
Chr7:134256390 [GRCh37]
Chr7:133906930 [NCBI36]
Chr7:7q33
not provided
NM_001080538.2(AKR1B15):c.684C>T (p.Cys228=) single nucleotide variant Malignant melanoma [RCV000067656] Chr7:134575868 [GRCh38]
Chr7:134260620 [GRCh37]
Chr7:133911160 [NCBI36]
Chr7:7q33
not provided
NM_001080538.2(AKR1B15):c.-23+1882G>A single nucleotide variant Lung cancer [RCV000105635] Chr7:134558741 [GRCh38]
Chr7:134243493 [GRCh37]
Chr7:7q33
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1 copy number loss See cases [RCV000448552] Chr7:131642114..139107211 [GRCh37]
Chr7:7q32.3-34
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001080538.3(AKR1B15):c.167T>C (p.Val56Ala) single nucleotide variant not specified [RCV004283887] Chr7:134568174 [GRCh38]
Chr7:134252926 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q33(chr7:133230189-137972605)x1 copy number loss not provided [RCV000682906] Chr7:133230189..137972605 [GRCh37]
Chr7:7q33
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33(chr7:134202349-134305426)x1 copy number loss not provided [RCV000747058] Chr7:134202349..134305426 [GRCh37]
Chr7:7q33
benign
NM_001080538.3(AKR1B15):c.604C>G (p.Pro202Ala) single nucleotide variant not specified [RCV004318492] Chr7:134575510 [GRCh38]
Chr7:134260262 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.909+10C>T single nucleotide variant not provided [RCV000883850] Chr7:134577056 [GRCh38]
Chr7:134261808 [GRCh37]
Chr7:7q33
benign
NM_001080538.3(AKR1B15):c.255A>G (p.Glu85=) single nucleotide variant not provided [RCV000965762] Chr7:134568262 [GRCh38]
Chr7:134253014 [GRCh37]
Chr7:7q33
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q33(chr7:133895591-134317660)x1 copy number loss not provided [RCV000849810] Chr7:133895591..134317660 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
NM_001080538.3(AKR1B15):c.862G>T (p.Val288Leu) single nucleotide variant not specified [RCV004319017] Chr7:134576999 [GRCh38]
Chr7:134261751 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.495G>A (p.Thr165=) single nucleotide variant not provided [RCV000953259] Chr7:134571663 [GRCh38]
Chr7:134256415 [GRCh37]
Chr7:7q33
benign
NM_001080538.3(AKR1B15):c.307A>G (p.Ile103Val) single nucleotide variant not provided [RCV000889975] Chr7:134568314 [GRCh38]
Chr7:134253066 [GRCh37]
Chr7:7q33
likely benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34
pathogenic
GRCh37/hg19 7q33(chr7:134128369-134656514) copy number gain not specified [RCV002053734] Chr7:134128369..134656514 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q31.33-33(chr7:124103982-134693590) copy number loss not specified [RCV002053726] Chr7:124103982..134693590 [GRCh37]
Chr7:7q31.33-33
pathogenic
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
NM_001080538.3(AKR1B15):c.338A>C (p.Glu113Ala) single nucleotide variant not specified [RCV004306596] Chr7:134569432 [GRCh38]
Chr7:134254184 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.163A>G (p.Lys55Glu) single nucleotide variant not specified [RCV004088808] Chr7:134568170 [GRCh38]
Chr7:134252922 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.176C>T (p.Ala59Val) single nucleotide variant not specified [RCV004242105] Chr7:134568183 [GRCh38]
Chr7:134252935 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.836G>A (p.Arg279His) single nucleotide variant not specified [RCV004072667] Chr7:134576973 [GRCh38]
Chr7:134261725 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.815C>A (p.Thr272Asn) single nucleotide variant not specified [RCV004202169] Chr7:134576420 [GRCh38]
Chr7:134261172 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.902A>G (p.Asn301Ser) single nucleotide variant not specified [RCV004179023] Chr7:134577039 [GRCh38]
Chr7:134261791 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.586G>A (p.Glu196Lys) single nucleotide variant not specified [RCV004205195] Chr7:134575492 [GRCh38]
Chr7:134260244 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.310G>A (p.Val104Ile) single nucleotide variant not specified [RCV004116439] Chr7:134568317 [GRCh38]
Chr7:134253069 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.535G>A (p.Glu179Lys) single nucleotide variant not specified [RCV004239721] Chr7:134575441 [GRCh38]
Chr7:134260193 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.892A>C (p.Ile298Leu) single nucleotide variant not specified [RCV004105383] Chr7:134577029 [GRCh38]
Chr7:134261781 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.407A>G (p.Tyr136Cys) single nucleotide variant not specified [RCV004356890] Chr7:134569501 [GRCh38]
Chr7:134254253 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 copy number loss not specified [RCV003986721] Chr7:120582003..137699953 [GRCh37]
Chr7:7q31.31-33
pathogenic
NM_001080538.3(AKR1B15):c.881C>T (p.Thr294Ile) single nucleotide variant not specified [RCV004397507] Chr7:134577018 [GRCh38]
Chr7:134261770 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.206G>A (p.Arg69His) single nucleotide variant not specified [RCV004634679] Chr7:134568213 [GRCh38]
Chr7:134252965 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.155T>G (p.Leu52Arg) single nucleotide variant not specified [RCV004397473] Chr7:134568162 [GRCh38]
Chr7:134252914 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.517A>G (p.Met173Val) single nucleotide variant not specified [RCV004397485] Chr7:134575423 [GRCh38]
Chr7:134260175 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.692A>C (p.Lys231Thr) single nucleotide variant not specified [RCV004397492] Chr7:134575876 [GRCh38]
Chr7:134260628 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.731C>T (p.Pro244Leu) single nucleotide variant not specified [RCV004634688] Chr7:134575915 [GRCh38]
Chr7:134260667 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.821C>G (p.Ala274Gly) single nucleotide variant not specified [RCV004634697] Chr7:134576426 [GRCh38]
Chr7:134261178 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.425A>G (p.Gln142Arg) single nucleotide variant not specified [RCV004634703] Chr7:134569519 [GRCh38]
Chr7:134254271 [GRCh37]
Chr7:7q33
uncertain significance
NM_001080538.3(AKR1B15):c.295G>A (p.Glu99Lys) single nucleotide variant not specified [RCV004634705] Chr7:134568302 [GRCh38]
Chr7:134253054 [GRCh37]
Chr7:7q33
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:381
Count of miRNA genes:279
Interacting mature miRNAs:289
Transcripts:ENST00000423958, ENST00000457545, ENST00000467156
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407329686GWAS978662_HX-26054 measurement QTL GWAS978662 (human)4e-15X-26054 measurement7134566237134566238Human
407274356GWAS923332_Hsystolic blood pressure, body mass index QTL GWAS923332 (human)0.000006systolic blood pressure, body mass indexbody mass index (BMI) (CMO:0000105)7134557740134557741Human
407029137GWAS678113_Hlongevity QTL GWAS678113 (human)0.000001longevity7134565570134565571Human


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
renal system
reproductive system
respiratory system
sensory system
988 1757 2681 1564 3094 1382 1622 4 451 854 296 2209 4777 4108 53 1900 562 1306 1166 167

Sequence


Ensembl Acc Id: ENST00000423958   ⟹   ENSP00000397009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7134,564,620 - 134,579,549 (+)Ensembl
Ensembl Acc Id: ENST00000457545   ⟹   ENSP00000389289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7134,549,110 - 134,579,869 (+)Ensembl
Ensembl Acc Id: ENST00000467156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7134,564,788 - 134,570,474 (+)Ensembl
Ensembl Acc Id: ENST00000652743   ⟹   ENSP00000498877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7134,565,172 - 134,579,875 (+)Ensembl
RefSeq Acc Id: NM_001080538   ⟹   NP_001074007
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,549,110 - 134,579,869 (+)NCBI
GRCh377134,233,849 - 134,264,615 (+)NCBI
Build 367133,900,773 - 133,914,841 (+)NCBI Archive
Celera7128,971,267 - 129,002,011 (+)RGD
HuRef7128,535,689 - 128,566,441 (+)RGD
CHM1_17134,168,123 - 134,198,839 (+)NCBI
T2T-CHM13v2.07135,857,188 - 135,887,905 (+)NCBI
CRA_TCAGchr7v27133,578,165 - 133,608,909 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001367820   ⟹   NP_001354749
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,549,110 - 134,579,869 (+)NCBI
T2T-CHM13v2.07135,857,188 - 135,887,905 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367821   ⟹   NP_001354750
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,549,110 - 134,579,869 (+)NCBI
T2T-CHM13v2.07135,857,188 - 135,887,905 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367822   ⟹   NP_001354751
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,549,110 - 134,570,474 (+)NCBI
T2T-CHM13v2.07135,857,188 - 135,878,509 (+)NCBI
Sequence:
RefSeq Acc Id: NR_160301
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,549,110 - 134,570,474 (+)NCBI
T2T-CHM13v2.07135,857,188 - 135,878,509 (+)NCBI
Sequence:
RefSeq Acc Id: NR_160302
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,549,110 - 134,570,474 (+)NCBI
T2T-CHM13v2.07135,857,188 - 135,878,509 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001074007   ⟸   NM_001080538
- Peptide Label: isoform a
- UniProtKB: A4D1P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001354750   ⟸   NM_001367821
- Peptide Label: isoform b
- UniProtKB: C9JRZ8 (UniProtKB/Swiss-Prot),   C9J3V2 (UniProtKB/Swiss-Prot),   A4D1P0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354749   ⟸   NM_001367820
- Peptide Label: isoform a
- UniProtKB: A4D1P0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354751   ⟸   NM_001367822
- Peptide Label: isoform c
Ensembl Acc Id: ENSP00000397009   ⟸   ENST00000423958
Ensembl Acc Id: ENSP00000498877   ⟸   ENST00000652743
Ensembl Acc Id: ENSP00000389289   ⟸   ENST00000457545
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-C9JRZ8-F1-model_v2 AlphaFold C9JRZ8 1-316 view protein structure

Promoters
RGD ID:7211965
Promoter ID:EPDNEW_H11729
Type:initiation region
Name:AKR1B15_1
Description:aldo-keto reductase family 1 member B15
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,549,114 - 134,549,174EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37281 AgrOrtholog
COSMIC AKR1B15 COSMIC
Ensembl Genes ENSG00000227471 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000423958 ENTREZGENE
  ENST00000423958.2 UniProtKB/Swiss-Prot
  ENST00000457545 ENTREZGENE
  ENST00000457545.7 UniProtKB/Swiss-Prot
  ENST00000467156 ENTREZGENE
  ENST00000652743 ENTREZGENE
  ENST00000652743.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.20.20.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000227471 GTEx
HGNC ID HGNC:37281 ENTREZGENE
Human Proteome Map AKR1B15 Human Proteome Map
InterPro AKR UniProtKB/TrEMBL
  Aldo/ket_reductase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldo/keto_reductase UniProtKB/Swiss-Prot
  NADP_OxRdtase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP_OxRdtase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:441282 UniProtKB/Swiss-Prot
NCBI Gene 441282 ENTREZGENE
OMIM 616336 OMIM
PANTHER ALDO-KETO REDUCTASE FAMILY 1 MEMBER B15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDO/KETO REDUCTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldo_ket_red UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165617622 PharmGKB
PIRSF AKR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS ALDKETRDTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ALDOKETO_REDUCTASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP NAD(P)-linked oxidoreductase UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A4D1P0 ENTREZGENE, UniProtKB/TrEMBL
  AK1BF_HUMAN UniProtKB/Swiss-Prot
  C9J3V2 ENTREZGENE
  C9JRZ8 ENTREZGENE
UniProt Secondary C9J3V2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 AKR1B15  aldo-keto reductase family 1 member B15    aldo-keto reductase family 1, member B15  Symbol and/or name change 5135510 APPROVED