AKR1C2 (aldo-keto reductase family 1 member C2) - Rat Genome Database

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Gene: AKR1C2 (aldo-keto reductase family 1 member C2) Homo sapiens
Analyze
Symbol: AKR1C2
Name: aldo-keto reductase family 1 member C2
RGD ID: 1353901
HGNC Page HGNC:385
Description: Enables several functions, including aldose reductase (NADPH) activity; ketosteroid monooxygenase activity; and trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity. Involved in several processes, including cellular response to prostaglandin D stimulus; glycoside metabolic process; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Implicated in 46,XY sex reversal 8. Biomarker of obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3-alpha hydroxysteroid dehydrogenase, type III; 3-alpha-HSD3; AKR1C-pseudo; aldo-keto reductase family 1, member C2; BABP; bile acid binding protein; chlordecone reductase homolog HAKRD; DD; DD-2; DD/BABP; DD2; DDH2; dihydrodiol dehydrogenase 2; dihydrodiol dehydrogenase/bile acid-binding protein; FLJ53800; HAKRD; HBAB; MCDR2; pseudo-chlordecone reductase; SRXY8; TDD; testicular 17,20-desmolase deficiency; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; type II dihydrodiol dehydrogenase; type III 3-alpha-hydroxysteroid dehydrogenase
RGD Orthologs
Mouse
Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: INSUL41_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38104,987,775 - 5,018,000 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl104,987,775 - 5,018,031 (-)EnsemblGRCh38hg38GRCh38
GRCh37105,029,967 - 5,060,192 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36105,021,965 - 5,050,207 (-)NCBINCBI36Build 36hg18NCBI36
Build 34105,021,965 - 5,050,207NCBI
Celera104,972,245 - 5,000,184 (-)NCBICelera
Cytogenetic Map10p15.1NCBI
HuRef104,920,321 - 4,955,422 (+)NCBIHuRef
CHM1_1105,030,308 - 5,060,576 (-)NCBICHM1_1
T2T-CHM13v2.0104,988,109 - 5,018,344 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(20S)-20-hydroxypregn-4-en-3-one  (EXP)
(E)-cinnamyl alcohol  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,10-phenanthroline  (EXP)
1,2-dimethylhydrazine  (ISO)
1,3-benzothiazole-2-thiol  (EXP)
1,4-benzoquinone  (EXP)
1,4-phenylenediamine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-phenyl-1,2-propanedione  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (EXP)
2-(chloromethyl)pyridine  (EXP)
2-aminophenol  (EXP)
2-hexenal  (EXP)
2-hydroxyethyl methacrylate  (EXP)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,4,5,3',4',5'-Hexachlorobiphenyl  (ISO)
3,4-dichloroaniline  (EXP)
3-Nitrobenzanthrone  (EXP)
3-phenylprop-2-enal  (EXP)
3alpha-hydroxy-5beta-pregnan-20-one  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-hydroxybenzoic acid  (EXP)
4-nitro-1,2-phenylenediamine  (EXP)
4-nitrobenzyl bromide  (EXP)
5-alpha-THDOC  (EXP)
5-fluorouracil  (EXP)
5alpha-pregnane-3,20-dione  (EXP)
9,10-phenanthroquinone  (EXP)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
actinomycin D  (EXP)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP)
ampicillin  (EXP)
androstane-3,17-diol  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
avobenzone  (EXP)
azathioprine  (EXP)
benzbromarone  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[a]pyrene-7,8-diol  (EXP)
benzo[a]pyrene-7,8-dione  (EXP)
benzyl cinnamate  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfate  (EXP)
celastrol  (EXP)
chenodeoxycholic acid  (EXP)
chlorambucil  (EXP)
chloroacetaldehyde  (EXP)
chlorohydrocarbon  (ISO)
chloromethylisothiazolinone  (EXP)
chloropicrin  (EXP)
cidofovir anhydrous  (EXP)
ciglitazone  (EXP)
cinnamyl alcohol  (EXP)
cisplatin  (EXP)
citral  (EXP)
clodronic acid  (EXP)
Clofop  (EXP)
cloxazolam  (EXP)
cobalt dichloride  (EXP)
coniferyl aldehyde  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclopentanol  (EXP)
cyclopentanone  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
diarsenic trioxide  (EXP)
diazepam  (EXP)
dibenzo[a,l]pyrene  (EXP)
dienogest  (EXP)
diethyl maleate  (EXP)
diethyl sulfate  (EXP)
dioxygen  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
dutasteride  (EXP)
dydrogesterone  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
estazolam  (EXP)
Ethyl acrylate  (EXP)
ethyl methanesulfonate  (EXP)
ethylene glycol dimethacrylate  (EXP)
ethylparaben  (EXP)
eugenol  (EXP)
farnesal  (EXP)
fenamic acid  (EXP)
fenofibrate  (EXP)
flufenamic acid  (EXP)
flunitrazepam  (EXP)
fluorescein 5-isothiocyanate  (EXP)
flurbiprofen  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
gedunin  (EXP)
geranial  (EXP)
glipizide  (EXP)
glyburide  (EXP)
glycyrrhetinate  (EXP)
glycyrrhetinic acid  (EXP)
glyoxal  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hexestrol  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
ibuprofen  (EXP)
ifosfamide  (EXP)
imidurea  (EXP)
indometacin  (EXP)
isoeugenol  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
lead diacetate  (EXP)
lead(0)  (EXP)
lead(II) chloride  (EXP)
linalool  (EXP)
lithocholic acid  (EXP)
LY294002  (EXP)
malathion  (EXP)
meclofenamic acid  (EXP)
Medazepam  (EXP)
medroxyprogesterone acetate  (EXP)
mefenamic acid  (EXP)
menadione  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (EXP)
methyl methanesulfonate  (EXP)
methyl non-2-ynoate  (EXP)
methylmercury chloride  (EXP,ISO)
methylparaben  (EXP)
n-propyl gallate  (EXP)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
naphthalenes  (EXP)
naproxen  (EXP)
nitrazepam  (EXP)
Nutlin-3  (EXP)
ochratoxin A  (EXP,ISO)
octadecanoic acid  (EXP)
octyl gallate  (EXP)
oxcarbazepine  (EXP)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
Panaxytriol  (EXP)
para-Cresidine  (EXP)
paracetamol  (EXP)
Paraoxon-methyl  (EXP)
parathion-methyl  (EXP)
perfluorodecanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenethyl caffeate  (EXP)
phenobarbital  (EXP)
phenolphthalein  (EXP)
Phenyl glycidyl ether  (EXP)
phenylacetaldehyde  (EXP)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pirinixic acid  (ISO)
potassium bromate  (ISO)
progesterone  (EXP)
prostaglandin F2alpha  (EXP)
quercetin  (EXP)
quinolin-8-ol  (EXP)
reactive oxygen species  (EXP)
Ro 31-8220  (EXP)
rotenone  (ISO)
salicylic acid  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sulforaphane  (EXP)
sulindac  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (EXP,ISO)
trans-isoeugenol  (EXP)
Tributyltin oxide  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
tunicamycin  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
vanillin  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zinc sulfate  (EXP)
zoledronic acid  (EXP)
zomepirac  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IEA)

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. Expression and activity of steroid aldoketoreductases 1C in omental adipose tissue are positive correlates of adiposity in women. Blouin K, etal., Am J Physiol Endocrinol Metab. 2005 Feb;288(2):E398-404. Epub 2004 Oct 19.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2187532   PMID:4352099   PMID:7789999   PMID:7959017   PMID:8011662   PMID:8274401   PMID:8486699   PMID:8573067   PMID:8889548   PMID:8920937   PMID:9716498   PMID:10672042  
PMID:11513593   PMID:11514561   PMID:11854486   PMID:12416991   PMID:12477932   PMID:12810547   PMID:13678667   PMID:14671194   PMID:14702039   PMID:15188492   PMID:15212687   PMID:15383625  
PMID:15489334   PMID:15492289   PMID:16216911   PMID:16344560   PMID:16411748   PMID:16478829   PMID:17203165   PMID:17432832   PMID:18251165   PMID:18396902   PMID:18508192   PMID:18654764  
PMID:18984855   PMID:19258517   PMID:19320734   PMID:19487289   PMID:19754879   PMID:19846565   PMID:20056642   PMID:20689807   PMID:20734064   PMID:20837989   PMID:20840669   PMID:21217827  
PMID:21232532   PMID:21280124   PMID:21492153   PMID:21521174   PMID:21802064   PMID:21851338   PMID:21873635   PMID:22064385   PMID:22275760   PMID:22534668   PMID:23414517   PMID:24244276  
PMID:24434280   PMID:25463305   PMID:26186194   PMID:26244607   PMID:26318406   PMID:26344197   PMID:26351209   PMID:26934124   PMID:28259989   PMID:28514442   PMID:28619249   PMID:29369461  
PMID:29449217   PMID:30575818   PMID:30773093   PMID:30886237   PMID:31780644   PMID:32416067   PMID:32678482   PMID:33024031   PMID:33675863   PMID:33961781   PMID:34185411   PMID:34428256  
PMID:35013556   PMID:35271311   PMID:35562734   PMID:35831314   PMID:35906200   PMID:35944360   PMID:36244648   PMID:36634849   PMID:36701414   PMID:37498066   PMID:38334954   PMID:38662237  
PMID:39358380  


Genomics

Comparative Map Data
AKR1C2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38104,987,775 - 5,018,000 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl104,987,775 - 5,018,031 (-)EnsemblGRCh38hg38GRCh38
GRCh37105,029,967 - 5,060,192 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36105,021,965 - 5,050,207 (-)NCBINCBI36Build 36hg18NCBI36
Build 34105,021,965 - 5,050,207NCBI
Celera104,972,245 - 5,000,184 (-)NCBICelera
Cytogenetic Map10p15.1NCBI
HuRef104,920,321 - 4,955,422 (+)NCBIHuRef
CHM1_1105,030,308 - 5,060,576 (-)NCBICHM1_1
T2T-CHM13v2.0104,988,109 - 5,018,344 (-)NCBIT2T-CHM13v2.0
Akr1c21
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39134,624,074 - 4,636,542 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl134,624,074 - 4,636,540 (+)EnsemblGRCm39 Ensembl
GRCm38134,574,075 - 4,586,543 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl134,574,075 - 4,586,541 (+)EnsemblGRCm38mm10GRCm38
MGSCv37134,573,321 - 4,585,789 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36134,573,321 - 4,585,787 (+)NCBIMGSCv36mm8
Celera134,543,969 - 4,562,535 (+)NCBICelera
Cytogenetic Map13A1NCBI
cM Map132.56NCBI
Akr1c2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81770,669,684 - 70,717,935 (-)NCBIGRCr8
mRatBN7.21765,759,778 - 65,808,013 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1765,759,788 - 65,775,764 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1769,255,523 - 69,303,728 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01773,084,375 - 73,132,581 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01767,127,357 - 67,175,563 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01769,388,337 - 69,435,160 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1769,388,335 - 69,404,341 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01771,102,094 - 71,148,911 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41777,034,737 - 77,081,406 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11777,045,579 - 77,092,239 (-)NCBI
Celera1765,292,033 - 65,339,839 (-)NCBICelera
Cytogenetic Map17q12.2NCBI

Variants

.
Variants in AKR1C2
94 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln) single nucleotide variant 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [RCV000022968] Chr10:5000649 [GRCh38]
Chr10:5042841 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_001393392.1(AKR1C2):c.666T>G (p.His222Gln) single nucleotide variant 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [RCV000022970] Chr10:4995770 [GRCh38]
Chr10:5037962 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val) single nucleotide variant 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [RCV000022967] Chr10:5001531 [GRCh38]
Chr10:5043723 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_001393392.1(AKR1C2):c.899A>C (p.Asn300Thr) single nucleotide variant 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [RCV000022969] Chr10:4991861 [GRCh38]
Chr10:5034053 [GRCh37]
Chr10:10p15.1		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3 copy number gain See cases [RCV000051132] Chr10:90421..6769994 [GRCh38]
Chr10:224406..6811956 [GRCh37]
Chr10:126361..6851962 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3 copy number gain See cases [RCV000051107] Chr10:90421..8442783 [GRCh38]
Chr10:224406..8484746 [GRCh37]
Chr10:126361..8524752 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1 copy number loss See cases [RCV000052493] Chr10:69260..6209368 [GRCh38]
Chr10:224406..6251331 [GRCh37]
Chr10:105200..6291337 [NCBI36]
Chr10:10p15.3-15.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] Chr10:90421..15569528 [GRCh38]
Chr10:224406..15611527 [GRCh37]
Chr10:126361..15651533 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 copy number loss See cases [RCV000052500] Chr10:4802753..16823491 [GRCh38]
Chr10:4844945..16865490 [GRCh37]
Chr10:4834945..16905496 [NCBI36]
Chr10:10p15.1-13		 pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 copy number gain See cases [RCV000053507] Chr10:69261..19184047 [GRCh38]
Chr10:224406..19472976 [GRCh37]
Chr10:105201..19512982 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|See cases [RCV000053511] Chr10:90421..7085100 [GRCh38]
Chr10:224406..7127062 [GRCh37]
Chr10:126361..7167068 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
GRCh37/hg19 10p15.3-15.1(chr10:138878-5160945)x3 copy number gain See cases [RCV000184089] Chr10:138878..5160945 [GRCh37]
Chr10:10p15.3-15.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3 copy number gain See cases [RCV000135340] Chr10:73856..12815915 [GRCh38]
Chr10:119796..12857914 [GRCh37]
Chr10:109796..12897920 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1 copy number loss See cases [RCV000135820] Chr10:4605831..7403265 [GRCh38]
Chr10:4648023..7445227 [GRCh37]
Chr10:4638023..7485233 [NCBI36]
Chr10:10p15.1-14		 uncertain significance
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3 copy number gain See cases [RCV000135533] Chr10:90421..11713049 [GRCh38]
Chr10:224406..11755048 [GRCh37]
Chr10:126361..11795054 [NCBI36]
Chr10:10p15.3-14		 pathogenic|uncertain significance
GRCh38/hg38 10p15.1(chr10:4871826-5811361)x3 copy number gain See cases [RCV000137253] Chr10:4871826..5811361 [GRCh38]
Chr10:4914018..5853324 [GRCh37]
Chr10:4904018..5893330 [NCBI36]
Chr10:10p15.1		 uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3 copy number gain See cases [RCV000137384] Chr10:70478..15373336 [GRCh38]
Chr10:224406..15415335 [GRCh37]
Chr10:106418..15455341 [NCBI36]
Chr10:10p15.3-13		 uncertain significance
GRCh38/hg38 10p15.1(chr10:4836712-5161722)x1 copy number loss See cases [RCV000138260] Chr10:4836712..5161722 [GRCh38]
Chr10:4878904..5203685 [GRCh37]
Chr10:4868904..5193685 [NCBI36]
Chr10:10p15.1		 likely benign
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1 copy number loss See cases [RCV000138960] Chr10:70478..13736564 [GRCh38]
Chr10:224406..13778564 [GRCh37]
Chr10:106418..13818570 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3 copy number gain See cases [RCV000142292] Chr10:54086..13205916 [GRCh38]
Chr10:100026..13247916 [GRCh37]
Chr10:90026..13287922 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3 copy number gain See cases [RCV000142241] Chr10:1601172..9203729 [GRCh38]
Chr10:1643367..9245692 [GRCh37]
Chr10:1633367..9285698 [NCBI36]
Chr10:10p15.3-14		 likely pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 copy number loss See cases [RCV000143703] Chr10:54086..19336980 [GRCh38]
Chr10:100026..19625909 [GRCh37]
Chr10:90026..19665915 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1 copy number loss See cases [RCV000239795] Chr10:2593113..8484746 [GRCh37]
Chr10:10p15.3-14		 pathogenic
GRCh37/hg19 10p15.1(chr10:5005599-5049453)x1 copy number loss See cases [RCV000449401] Chr10:5005599..5049453 [GRCh37]
Chr10:10p15.1		 likely benign
GRCh37/hg19 10p15.1(chr10:5025476-5049453)x3 copy number gain See cases [RCV000449317] Chr10:5025476..5049453 [GRCh37]
Chr10:10p15.1		 benign|likely benign
GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1 copy number loss See cases [RCV000446357] Chr10:136361..8850609 [GRCh37]
Chr10:10p15.3-14		 pathogenic
GRCh37/hg19 10p15.1(chr10:4934331-5203316)x1 copy number loss See cases [RCV000447225] Chr10:4934331..5203316 [GRCh37]
Chr10:10p15.1		 likely benign
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23		 pathogenic
GRCh37/hg19 10p15.1(chr10:5025476-5049453)x1 copy number loss See cases [RCV000446698] Chr10:5025476..5049453 [GRCh37]
Chr10:10p15.1		 likely benign
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)x3 copy number gain See cases [RCV000445989] Chr10:2116123..8856296 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=) single nucleotide variant 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [RCV000988323]|AKR1C2-related disorder [RCV003983098]|not provided [RCV001613317]|not specified [RCV000501488] Chr10:4999206 [GRCh38]
Chr10:5041398 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
NM_001393392.1(AKR1C2):c.533A>C (p.Asn178Thr) single nucleotide variant not specified [RCV004290457] Chr10:4998662 [GRCh38]
Chr10:5040854 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1 copy number loss See cases [RCV000512541] Chr10:100026..12842179 [GRCh37]
Chr10:10p15.3-13		 pathogenic
NM_001354.6(AKR1C2):c.-179-342C>A single nucleotide variant not provided [RCV001571419] Chr10:5004356 [GRCh38]
Chr10:5046548 [GRCh37]
Chr10:10p15.1		 likely benign
Single allele deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000735901] Chr10:4689760..19120882 [GRCh37]
Chr10:10p15.1-12.31		 pathogenic
NM_001393392.1(AKR1C2):c.929+185T>C single nucleotide variant not provided [RCV001541381] Chr10:4991646 [GRCh38]
Chr10:5033838 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.1(chr10:5018712-5144037)x1 copy number loss not provided [RCV000736999] Chr10:5018712..5144037 [GRCh37]
Chr10:10p15.1		 benign
Single allele duplication Schizophrenia [RCV000754118] Chr10:3076972..6208037 [GRCh38]
Chr10:10p15.2-15.1		 likely pathogenic
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3 copy number gain not provided [RCV000749463] Chr10:69083..12887271 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001354.6(AKR1C2):c.-179-162G>A single nucleotide variant not provided [RCV001679753] Chr10:5004176 [GRCh38]
Chr10:5046368 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.570+180G>A single nucleotide variant not provided [RCV001645138] Chr10:4998445 [GRCh38]
Chr10:5040637 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.930-56G>C single nucleotide variant not provided [RCV001667235] Chr10:4990094 [GRCh38]
Chr10:5032286 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.85-223T>C single nucleotide variant not provided [RCV001648150] Chr10:5001904 [GRCh38]
Chr10:5044096 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.571-48A>G single nucleotide variant not provided [RCV001708848] Chr10:4995913 [GRCh38]
Chr10:5038105 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848062] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p15.1(chr10:5056553-5174423)x1 copy number loss not provided [RCV000845662] Chr10:5056553..5174423 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.666T>C (p.His222=) single nucleotide variant AKR1C2-related disorder [RCV003973007]|CIC-rearranged sarcoma [RCV000993817]|not specified [RCV002249600] Chr10:4995770 [GRCh38]
Chr10:5037962 [GRCh37]
Chr10:10p15.1		 pathogenic|benign|likely benign
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848090] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
NM_001393392.1(AKR1C2):c.571-122G>A single nucleotide variant not provided [RCV001560027] Chr10:4995987 [GRCh38]
Chr10:5038179 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001393392.1(AKR1C2):c.571-92C>G single nucleotide variant not provided [RCV001614830] Chr10:4995957 [GRCh38]
Chr10:5038149 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.447+17G>A single nucleotide variant not provided [RCV001685963] Chr10:4999183 [GRCh38]
Chr10:5041375 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.369+448A>G single nucleotide variant not provided [RCV001715765] Chr10:5000102 [GRCh38]
Chr10:5042294 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.84+140G>T single nucleotide variant not provided [RCV001715769] Chr10:5003612 [GRCh38]
Chr10:5045804 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.*173G>A single nucleotide variant not provided [RCV001686021] Chr10:4989823 [GRCh38]
Chr10:5032015 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.84+82T>C single nucleotide variant not provided [RCV001596787] Chr10:5003670 [GRCh38]
Chr10:5045862 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.369+426T>A single nucleotide variant not provided [RCV001620105] Chr10:5000124 [GRCh38]
Chr10:5042316 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.84+244T>C single nucleotide variant not provided [RCV001640004] Chr10:5003508 [GRCh38]
Chr10:5045700 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.681-39C>G single nucleotide variant not provided [RCV001637190] Chr10:4995523 [GRCh38]
Chr10:5037715 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.1(chr10:4558510-5203154)x4 copy number gain not provided [RCV002472816] Chr10:4558510..5203154 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.680+34C>G single nucleotide variant not provided [RCV001658572] Chr10:4995722 [GRCh38]
Chr10:5037914 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.681-42T>C single nucleotide variant not provided [RCV001718393] Chr10:4995526 [GRCh38]
Chr10:5037718 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.847-277A>G single nucleotide variant not provided [RCV001620702] Chr10:4992190 [GRCh38]
Chr10:5034382 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.570+299C>T single nucleotide variant not provided [RCV001656808] Chr10:4998326 [GRCh38]
Chr10:5040518 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.929+7A>G single nucleotide variant not provided [RCV001596821] Chr10:4991824 [GRCh38]
Chr10:5034016 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.*297C>A single nucleotide variant not provided [RCV001655214] Chr10:4989699 [GRCh38]
Chr10:5031891 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.84+110A>C single nucleotide variant not provided [RCV001654576] Chr10:5003642 [GRCh38]
Chr10:5045834 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.570+80T>A single nucleotide variant not provided [RCV001638924] Chr10:4998545 [GRCh38]
Chr10:5040737 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.369+78G>A single nucleotide variant not provided [RCV001676412] Chr10:5000472 [GRCh38]
Chr10:5042664 [GRCh37]
Chr10:10p15.1		 benign
NM_001354.6(AKR1C2):c.-179-181C>A single nucleotide variant not provided [RCV001593773] Chr10:5004195 [GRCh38]
Chr10:5046387 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001393392.1(AKR1C2):c.930-54G>A single nucleotide variant not provided [RCV001715759] Chr10:4990092 [GRCh38]
Chr10:5032284 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.370-125C>T single nucleotide variant not provided [RCV001614811] Chr10:4999402 [GRCh38]
Chr10:5041594 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.370-103del deletion not provided [RCV001618010] Chr10:4999380 [GRCh38]
Chr10:5041572 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.370-211T>C single nucleotide variant not provided [RCV001677547] Chr10:4999488 [GRCh38]
Chr10:5041680 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.448-94G>A single nucleotide variant not provided [RCV001608177] Chr10:4998841 [GRCh38]
Chr10:5041033 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.370-108G>A single nucleotide variant not provided [RCV001645797] Chr10:4999385 [GRCh38]
Chr10:5041577 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.570+145T>G single nucleotide variant not provided [RCV001695473] Chr10:4998480 [GRCh38]
Chr10:5040672 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.252+202C>T single nucleotide variant not provided [RCV001616096] Chr10:5001312 [GRCh38]
Chr10:5043504 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.846+251A>G single nucleotide variant not provided [RCV001665987] Chr10:4995068 [GRCh38]
Chr10:5037260 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.447+96G>T single nucleotide variant not provided [RCV001649730] Chr10:4999104 [GRCh38]
Chr10:5041296 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.847-51T>C single nucleotide variant not provided [RCV001643754] Chr10:4991964 [GRCh38]
Chr10:5034156 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.84+221A>C single nucleotide variant not provided [RCV001696285] Chr10:5003531 [GRCh38]
Chr10:5045723 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.930-10dup duplication not provided [RCV001609617] Chr10:4990047..4990048 [GRCh38]
Chr10:5032239..5032240 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.930-204G>T single nucleotide variant not provided [RCV001663057] Chr10:4990242 [GRCh38]
Chr10:5032434 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.137T>A (p.Phe46Tyr) single nucleotide variant not provided [RCV001724993] Chr10:5001629 [GRCh38]
Chr10:5043821 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.369+422T>C single nucleotide variant not provided [RCV001612505] Chr10:5000128 [GRCh38]
Chr10:5042320 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.929+186G>T single nucleotide variant not provided [RCV001696648] Chr10:4991645 [GRCh38]
Chr10:5033837 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.*311G>A single nucleotide variant not provided [RCV001690574] Chr10:4989685 [GRCh38]
Chr10:5031877 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.846+76del deletion not provided [RCV001649724] Chr10:4995243 [GRCh38]
Chr10:5037435 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.1(chr10:4893720-5273767)x1 copy number loss not provided [RCV001006292] Chr10:4893720..5273767 [GRCh37]
Chr10:10p15.1		 likely benign
GRCh37/hg19 10p15.1(chr10:4504067-5395279)x3 copy number gain not provided [RCV001006290] Chr10:4504067..5395279 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001393392.1(AKR1C2):c.158_159del (p.His53fs) deletion 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [RCV003989391]|not specified [RCV004634418] Chr10:5001607..5001608 [GRCh38]
Chr10:5043799..5043800 [GRCh37]
Chr10:10p15.1		 pathogenic|uncertain significance
NM_001354.6(AKR1C2):c.196C>T (p.Arg66Ter) single nucleotide variant 46,XY sex reversal 8 [RCV001334916] Chr10:5001570 [GRCh38]
Chr10:5043762 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_001393392.1(AKR1C2):c.327C>T (p.Asp109=) single nucleotide variant AKR1C2-related disorder [RCV003966160]|not provided [RCV001539213] Chr10:5000592 [GRCh38]
Chr10:5042784 [GRCh37]
Chr10:10p15.1		 benign
NM_001354.6(AKR1C2):c.610dup (p.Asp204fs) duplication 46,XY sex reversal 8 [RCV001334917] Chr10:4995825..4995826 [GRCh38]
Chr10:5038017..5038018 [GRCh37]
Chr10:10p15.1		 pathogenic
Single allele deletion not provided [RCV001391669] Chr10:120001..6920000 [GRCh37]
Chr10:10p15.3-14		 pathogenic
NM_001393392.1(AKR1C2):c.847-112G>A single nucleotide variant not provided [RCV001610246] Chr10:4992025 [GRCh38]
Chr10:5034217 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.253-262G>A single nucleotide variant not provided [RCV001669081] Chr10:5000928 [GRCh38]
Chr10:5043120 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.85-160A>C single nucleotide variant not provided [RCV001655501] Chr10:5001841 [GRCh38]
Chr10:5044033 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.680+35T>C single nucleotide variant not provided [RCV001667216] Chr10:4995721 [GRCh38]
Chr10:5037913 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.370-189T>C single nucleotide variant not provided [RCV001615958] Chr10:4999466 [GRCh38]
Chr10:5041658 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1 copy number loss Neurooculocardiogenitourinary syndrome [RCV001801187] Chr10:60501..5238964 [GRCh37]
Chr10:10p15.3-15.1		 pathogenic
NM_001393392.1(AKR1C2):c.364G>A (p.Val122Ile) single nucleotide variant not specified [RCV001819529] Chr10:5000555 [GRCh38]
Chr10:5042747 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001393392.1(AKR1C2):c.211G>C (p.Asp71His) single nucleotide variant not provided [RCV004692747]|not specified [RCV001819642] Chr10:5001555 [GRCh38]
Chr10:5043747 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296) copy number gain not specified [RCV002052861] Chr10:2116123..8856296 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3 copy number gain not provided [RCV001827671] Chr10:4927427..6653936 [GRCh37]
Chr10:10p15.1-14		 uncertain significance
GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1 copy number loss 10p15.3 microdeletion syndrome [RCV001825268] Chr10:100027..5071398 [GRCh37]
Chr10:10p15.3-15.1		 not provided
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
NM_001393392.1(AKR1C2):c.413T>A (p.Leu138Gln) single nucleotide variant See cases [RCV001844434] Chr10:4999234 [GRCh38]
Chr10:5041426 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.85-194_570+1284del deletion See cases [RCV002221428] Chr10:4997341..5001875 [GRCh38]
Chr10:5039533..5044067 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3 copy number gain not provided [RCV002472393] Chr10:100027..12648149 [GRCh37]
Chr10:10p15.3-13		 uncertain significance
NM_001393392.1(AKR1C2):c.569A>C (p.Gln190Pro) single nucleotide variant not specified [RCV004085950] Chr10:4998626 [GRCh38]
Chr10:5040818 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.180G>C (p.Gln60His) single nucleotide variant not specified [RCV004197330] Chr10:5001586 [GRCh38]
Chr10:5043778 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.315T>A (p.Asn105Lys) single nucleotide variant not specified [RCV004110837] Chr10:5000604 [GRCh38]
Chr10:5042796 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.292G>A (p.Ala98Thr) single nucleotide variant not specified [RCV004175425] Chr10:5000627 [GRCh38]
Chr10:5042819 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.142C>G (p.His48Asp) single nucleotide variant not specified [RCV004118549] Chr10:5001624 [GRCh38]
Chr10:5043816 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.764T>G (p.Ile255Ser) single nucleotide variant not specified [RCV004196549] Chr10:4995401 [GRCh38]
Chr10:5037593 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.787C>T (p.Arg263Cys) single nucleotide variant not specified [RCV004256925] Chr10:4995378 [GRCh38]
Chr10:5037570 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.827_828del (p.Arg276fs) microsatellite 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [RCV003486360] Chr10:4995337..4995338 [GRCh38]
Chr10:5037529..5037530 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.85-1G>C single nucleotide variant AKR1C2-related disorder [RCV003392909] Chr10:5001682 [GRCh38]
Chr10:5043874 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.15C>T (p.Tyr5=) single nucleotide variant AKR1C2-related disorder [RCV003941481] Chr10:5003821 [GRCh38]
Chr10:5046013 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001393392.1(AKR1C2):c.501C>T (p.Asn167=) single nucleotide variant AKR1C2-related disorder [RCV003914148] Chr10:4998694 [GRCh38]
Chr10:5040886 [GRCh37]
Chr10:10p15.1		 likely benign
GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3 copy number gain See cases [RCV004442806] Chr10:1274308..12045503 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
NM_001393392.1(AKR1C2):c.384G>T (p.Val128=) single nucleotide variant AKR1C2-related disorder [RCV003911421] Chr10:4999263 [GRCh38]
Chr10:5041455 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001393392.1(AKR1C2):c.772C>T (p.Arg258Cys) single nucleotide variant AKR1C2-related disorder [RCV003924499] Chr10:4995393 [GRCh38]
Chr10:5037585 [GRCh37]
Chr10:10p15.1		 benign
NM_001393392.1(AKR1C2):c.783G>A (p.Leu261=) single nucleotide variant AKR1C2-related disorder [RCV003973861] Chr10:4995382 [GRCh38]
Chr10:5037574 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001393392.1(AKR1C2):c.720C>A (p.Val240=) single nucleotide variant AKR1C2-related disorder [RCV003896891] Chr10:4995445 [GRCh38]
Chr10:5037637 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001393392.1(AKR1C2):c.54C>T (p.Val18=) single nucleotide variant AKR1C2-related disorder [RCV003934532] Chr10:5003782 [GRCh38]
Chr10:5045974 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001393392.1(AKR1C2):c.287G>A (p.Arg96Gln) single nucleotide variant not specified [RCV004397587] Chr10:5000632 [GRCh38]
Chr10:5042824 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.5A>T (p.Asp2Val) single nucleotide variant not specified [RCV004397617] Chr10:5003831 [GRCh38]
Chr10:5046023 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.773G>A (p.Arg258His) single nucleotide variant not specified [RCV004397630] Chr10:4995392 [GRCh38]
Chr10:5037584 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.539C>T (p.Pro180Leu) single nucleotide variant not specified [RCV004397606] Chr10:4998656 [GRCh38]
Chr10:5040848 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.155C>A (p.Ala52Glu) single nucleotide variant not specified [RCV004397582] Chr10:5001611 [GRCh38]
Chr10:5043803 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.290C>T (p.Pro97Leu) single nucleotide variant not specified [RCV004397590] Chr10:5000629 [GRCh38]
Chr10:5042821 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.449C>T (p.Ala150Val) single nucleotide variant not specified [RCV004397597] Chr10:4998746 [GRCh38]
Chr10:5040938 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001393392.1(AKR1C2):c.826C>T (p.Arg276Cys) single nucleotide variant not specified [RCV004397643] Chr10:4995339 [GRCh38]
Chr10:5037531 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh38/hg38 10p15.1(chr10:4892139-5164086)x1 copy number loss See cases [RCV000142243] Chr10:4892139..5164086 [GRCh38]
Chr10:4934331..5206049 [GRCh37]
Chr10:4924331..5196049 [NCBI36]
Chr10:10p15.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2095
Count of miRNA genes:977
Interacting mature miRNAs:1144
Transcripts:ENST00000380753, ENST00000407674, ENST00000421196, ENST00000455190, ENST00000460124, ENST00000603073, ENST00000604184, ENST00000604428, ENST00000604439, ENST00000604507, ENST00000604711
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
RH92273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37104,995,022 - 4,995,155UniSTSGRCh37
GRCh37105,055,646 - 5,055,779UniSTSGRCh37
Build 36104,985,022 - 4,985,155RGDNCBI36
Celera104,937,952 - 4,938,085RGD
Celera104,995,621 - 4,995,754UniSTS
Cytogenetic Map10p15-p14UniSTS
HuRef104,929,054 - 4,929,187UniSTS
HuRef104,989,377 - 4,989,510UniSTS
GeneMap99-GB4 RH Map1046.72UniSTS
RH11162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37105,031,981 - 5,032,098UniSTSGRCh37
GRCh37105,020,024 - 5,020,142UniSTSGRCh37
Build 36105,010,024 - 5,010,142RGDNCBI36
Celera104,972,261 - 4,972,378UniSTS
Celera104,960,867 - 4,960,985RGD
Cytogenetic Map10p15-p14UniSTS
HuRef104,953,291 - 4,953,408UniSTS
HuRef104,965,250 - 4,965,368UniSTS
RH120422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37105,050,844 - 5,051,147UniSTSGRCh37
GRCh37104,999,729 - 5,000,032UniSTSGRCh37
Build 36104,989,729 - 4,990,032RGDNCBI36
Celera104,990,819 - 4,991,122UniSTS
Celera104,942,658 - 4,942,961RGD
Cytogenetic Map10p15-p14UniSTS
HuRef104,933,763 - 4,934,066UniSTS
HuRef104,984,575 - 4,984,878UniSTS
SHGC-100143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37105,034,159 - 5,034,436UniSTSGRCh37
GRCh37105,017,712 - 5,017,989UniSTSGRCh37
Build 36105,007,712 - 5,007,989RGDNCBI36
Celera104,958,554 - 4,958,831RGD
Cytogenetic Map10p15-p14UniSTS
HuRef104,950,953 - 4,951,230UniSTS
HuRef104,967,403 - 4,967,680UniSTS
STS-U05861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37105,032,105 - 5,032,275UniSTSGRCh37
GRCh37105,019,847 - 5,020,017UniSTSGRCh37
Build 36105,009,847 - 5,010,017RGDNCBI36
Celera104,972,385 - 4,972,555UniSTS
Celera104,960,690 - 4,960,860RGD
Cytogenetic Map10p15-p14UniSTS
HuRef104,953,114 - 4,953,284UniSTS
HuRef104,965,375 - 4,965,545UniSTS
GeneMap99-GB4 RH Map1047.19UniSTS
SHGC-12403  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p15-p14UniSTS
GeneMap99-G3 RH Map10161.0UniSTS


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
1204 2419 2788 2228 4909 1718 2323 3 621 1423 463 2239 6756 5947 41 3705 840 1713 1590 169

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_205845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB021654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB031084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX710070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU609072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA450425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA438648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA451165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA458030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ379983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L32592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M33376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U05598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000380753   ⟹   ENSP00000370129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl104,987,775 - 5,003,857 (-)Ensembl
Ensembl Acc Id: ENST00000421196   ⟹   ENSP00000392694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl104,989,434 - 5,003,860 (-)Ensembl
Ensembl Acc Id: ENST00000455190   ⟹   ENSP00000408440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl104,999,911 - 5,004,014 (-)Ensembl
Ensembl Acc Id: ENST00000460124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl104,989,789 - 5,004,023 (-)Ensembl
Ensembl Acc Id: ENST00000603073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl105,010,463 - 5,015,892 (-)Ensembl
Ensembl Acc Id: ENST00000604184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl105,000,303 - 5,003,861 (-)Ensembl
Ensembl Acc Id: ENST00000604428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl105,005,995 - 5,018,031 (-)Ensembl
Ensembl Acc Id: ENST00000604439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl105,013,307 - 5,015,048 (-)Ensembl
Ensembl Acc Id: ENST00000604507   ⟹   ENSP00000474566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl104,995,834 - 5,017,955 (-)Ensembl
Ensembl Acc Id: ENST00000604711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl105,006,462 - 5,017,934 (-)Ensembl
RefSeq Acc Id: NM_001135241   ⟹   NP_001128713
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38104,999,911 - 5,003,857 (-)NCBI
GRCh37105,029,967 - 5,060,225 (-)NCBI
HuRef104,920,321 - 4,955,422 (+)NCBI
CHM1_1105,042,452 - 5,046,551 (-)NCBI
T2T-CHM13v2.0105,000,248 - 5,004,194 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321027   ⟹   NP_001307956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38104,987,775 - 5,003,857 (-)NCBI
CHM1_1105,030,308 - 5,046,551 (-)NCBI
T2T-CHM13v2.0104,988,109 - 5,004,194 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354   ⟹   NP_001345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38104,987,775 - 5,018,000 (-)NCBI
GRCh37105,029,967 - 5,060,225 (-)NCBI
Build 36105,021,965 - 5,050,207 (-)NCBI Archive
HuRef104,920,321 - 4,955,422 (+)NCBI
CHM1_1105,030,308 - 5,060,576 (-)NCBI
T2T-CHM13v2.0104,988,109 - 5,018,344 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001393392   ⟹   NP_001380321
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38104,987,775 - 5,003,857 (-)NCBI
T2T-CHM13v2.0104,988,109 - 5,004,194 (-)NCBI
Sequence:
RefSeq Acc Id: NM_205845   ⟹   NP_995317
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38104,987,775 - 5,018,000 (-)NCBI
GRCh37105,029,967 - 5,060,225 (-)NCBI
Build 36105,021,965 - 5,050,207 (-)NCBI Archive
HuRef104,920,321 - 4,955,422 (+)NCBI
CHM1_1105,030,308 - 5,060,576 (-)NCBI
T2T-CHM13v2.0104,988,109 - 5,018,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047424682   ⟹   XP_047280638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38104,987,775 - 5,018,000 (-)NCBI
RefSeq Acc Id: XM_047424683   ⟹   XP_047280639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38104,987,775 - 5,018,000 (-)NCBI
RefSeq Acc Id: XM_054364925   ⟹   XP_054220900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0104,988,109 - 5,018,344 (-)NCBI
RefSeq Acc Id: XM_054364926   ⟹   XP_054220901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0104,988,109 - 5,018,344 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001128713 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307956 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380321 (Get FASTA)   NCBI Sequence Viewer  
  NP_995317 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280638 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280639 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220900 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220901 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA20937 (Get FASTA)   NCBI Sequence Viewer  
  AAB38486 (Get FASTA)   NCBI Sequence Viewer  
  AAD14013 (Get FASTA)   NCBI Sequence Viewer  
  AAH07024 (Get FASTA)   NCBI Sequence Viewer  
  AAH63574 (Get FASTA)   NCBI Sequence Viewer  
  AAP35299 (Get FASTA)   NCBI Sequence Viewer  
  ABD36086 (Get FASTA)   NCBI Sequence Viewer  
  BAA36169 (Get FASTA)   NCBI Sequence Viewer  
  BAA92884 (Get FASTA)   NCBI Sequence Viewer  
  BAA92891 (Get FASTA)   NCBI Sequence Viewer  
  BAD92254 (Get FASTA)   NCBI Sequence Viewer  
  BAF82993 (Get FASTA)   NCBI Sequence Viewer  
  BAG59081 (Get FASTA)   NCBI Sequence Viewer  
  BAG59281 (Get FASTA)   NCBI Sequence Viewer  
  CAD88527 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000370129
  ENSP00000370129.4
  ENSP00000392694
  ENSP00000392694.2
  ENSP00000408440
  ENSP00000408440.1
  ENSP00000474566.1
GenBank Protein P52895 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001345   ⟸   NM_001354
- Peptide Label: isoform 1
- UniProtKB: Q7M4N1 (UniProtKB/Swiss-Prot),   Q5SR16 (UniProtKB/Swiss-Prot),   Q14133 (UniProtKB/Swiss-Prot),   B4DKR9 (UniProtKB/Swiss-Prot),   A8K2N9 (UniProtKB/Swiss-Prot),   Q96A71 (UniProtKB/Swiss-Prot),   P52895 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_995317   ⟸   NM_205845
- Peptide Label: isoform 1
- UniProtKB: Q7M4N1 (UniProtKB/Swiss-Prot),   Q5SR16 (UniProtKB/Swiss-Prot),   Q14133 (UniProtKB/Swiss-Prot),   B4DKR9 (UniProtKB/Swiss-Prot),   A8K2N9 (UniProtKB/Swiss-Prot),   Q96A71 (UniProtKB/Swiss-Prot),   P52895 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001128713   ⟸   NM_001135241
- Peptide Label: isoform 2
- UniProtKB: B4E0M1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307956   ⟸   NM_001321027
- Peptide Label: isoform 3
- UniProtKB: B4DK69 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000408440   ⟸   ENST00000455190
Ensembl Acc Id: ENSP00000474566   ⟸   ENST00000604507
Ensembl Acc Id: ENSP00000370129   ⟸   ENST00000380753
Ensembl Acc Id: ENSP00000392694   ⟸   ENST00000421196
RefSeq Acc Id: NP_001380321   ⟸   NM_001393392
- Peptide Label: isoform 1
- UniProtKB: Q7M4N1 (UniProtKB/Swiss-Prot),   Q5SR16 (UniProtKB/Swiss-Prot),   Q14133 (UniProtKB/Swiss-Prot),   P52895 (UniProtKB/Swiss-Prot),   B4DKR9 (UniProtKB/Swiss-Prot),   A8K2N9 (UniProtKB/Swiss-Prot),   Q96A71 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047280638   ⟸   XM_047424682
- Peptide Label: isoform X1
- UniProtKB: Q7M4N1 (UniProtKB/Swiss-Prot),   Q5SR16 (UniProtKB/Swiss-Prot),   Q14133 (UniProtKB/Swiss-Prot),   P52895 (UniProtKB/Swiss-Prot),   B4DKR9 (UniProtKB/Swiss-Prot),   A8K2N9 (UniProtKB/Swiss-Prot),   Q96A71 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047280639   ⟸   XM_047424683
- Peptide Label: isoform X1
- UniProtKB: Q7M4N1 (UniProtKB/Swiss-Prot),   Q5SR16 (UniProtKB/Swiss-Prot),   Q14133 (UniProtKB/Swiss-Prot),   P52895 (UniProtKB/Swiss-Prot),   B4DKR9 (UniProtKB/Swiss-Prot),   A8K2N9 (UniProtKB/Swiss-Prot),   Q96A71 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054220900   ⟸   XM_054364925
- Peptide Label: isoform X1
- UniProtKB: Q7M4N1 (UniProtKB/Swiss-Prot),   Q5SR16 (UniProtKB/Swiss-Prot),   Q14133 (UniProtKB/Swiss-Prot),   P52895 (UniProtKB/Swiss-Prot),   B4DKR9 (UniProtKB/Swiss-Prot),   A8K2N9 (UniProtKB/Swiss-Prot),   Q96A71 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054220901   ⟸   XM_054364926
- Peptide Label: isoform X1
- UniProtKB: Q7M4N1 (UniProtKB/Swiss-Prot),   Q5SR16 (UniProtKB/Swiss-Prot),   Q14133 (UniProtKB/Swiss-Prot),   P52895 (UniProtKB/Swiss-Prot),   B4DKR9 (UniProtKB/Swiss-Prot),   A8K2N9 (UniProtKB/Swiss-Prot),   Q96A71 (UniProtKB/Swiss-Prot)
Protein Domains
NADP-dependent oxidoreductase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52895-F1-model_v2 AlphaFold P52895 1-323 view protein structure

Promoters
RGD ID:7216881
Promoter ID:EPDNEW_H14187
Type:initiation region
Name:AKR1C2_1
Description:aldo-keto reductase family 1 member C2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14188  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38105,003,857 - 5,003,917EPDNEW
RGD ID:7216883
Promoter ID:EPDNEW_H14188
Type:initiation region
Name:AKR1C2_2
Description:aldo-keto reductase family 1 member C2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14187  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38105,018,000 - 5,018,060EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:385 AgrOrtholog
COSMIC AKR1C2 COSMIC
Ensembl Genes ENSG00000151632 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000380753 ENTREZGENE
  ENST00000380753.9 UniProtKB/Swiss-Prot
  ENST00000421196 ENTREZGENE
  ENST00000421196.7 UniProtKB/TrEMBL
  ENST00000455190 ENTREZGENE
  ENST00000455190.2 UniProtKB/Swiss-Prot
  ENST00000604507.5 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000151632 GTEx
HGNC ID HGNC:385 ENTREZGENE
Human Proteome Map AKR1C2 Human Proteome Map
InterPro AKR1C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldo/ket_reductase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldo/keto_reductase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP_OxRdtase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP_OxRdtase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1646 UniProtKB/Swiss-Prot
NCBI Gene 1646 ENTREZGENE
OMIM 600450 OMIM
PANTHER ALDO-KETO REDUCTASE FAMILY 1 MEMBER C1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDO/KETO REDUCTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldo_ket_red UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24678 PharmGKB
PIRSF AKR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS ALDKETRDTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ALDOKETO_REDUCTASE_1 UniProtKB/TrEMBL
  ALDOKETO_REDUCTASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDOKETO_REDUCTASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51430 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K2N9 ENTREZGENE
  AK1C2_HUMAN UniProtKB/Swiss-Prot
  B4DK69 ENTREZGENE, UniProtKB/TrEMBL
  B4DKR9 ENTREZGENE
  B4E0M1 ENTREZGENE, UniProtKB/TrEMBL
  P52895 ENTREZGENE
  Q14133 ENTREZGENE
  Q1KXY7_HUMAN UniProtKB/TrEMBL
  Q5SR16 ENTREZGENE
  Q7M4N1 ENTREZGENE
  Q96A71 ENTREZGENE
  S4R3P0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K2N9 UniProtKB/Swiss-Prot
  B4DKR9 UniProtKB/Swiss-Prot
  Q14133 UniProtKB/Swiss-Prot
  Q5SR16 UniProtKB/Swiss-Prot
  Q7M4N1 UniProtKB/Swiss-Prot
  Q96A71 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-23 AKR1C2  aldo-keto reductase family 1 member C2  AKR1C2  aldo-keto reductase family 1, member C2  Symbol and/or name change 5135510 APPROVED
2016-04-05 AKR1C2  aldo-keto reductase family 1, member C2  TDD  testicular 17,20-desmolase deficiency  Data merged from RGD:1344799 737654 PROVISIONAL
2012-12-12 AKR1C2  aldo-keto reductase family 1, member C2  AKR1C2  aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)  Symbol and/or name change 5135510 APPROVED