Details for: HSD17B3

Gene ID: 3293

Symbol: HSD17B3

Ensembl ID: ENSG00000130948

Description: hydroxysteroid 17-beta dehydrogenase 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: 5.8777
    Cell Significance Index: 94.5100
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.8811
    Cell Significance Index: 12.3800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.7632
    Cell Significance Index: 10.9300
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.4242
    Cell Significance Index: 5.9500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.3545
    Cell Significance Index: 8.8400
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.2602
    Cell Significance Index: 0.9800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2191
    Cell Significance Index: 5.6300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1541
    Cell Significance Index: 4.1300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1260
    Cell Significance Index: 2.1600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1153
    Cell Significance Index: 1.8300
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: 0.1034
    Cell Significance Index: 1.4500
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.0961
    Cell Significance Index: 1.4600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0942
    Cell Significance Index: 1.2900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0871
    Cell Significance Index: 1.7000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0626
    Cell Significance Index: 1.0600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0410
    Cell Significance Index: 0.6900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0149
    Cell Significance Index: 0.2200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0096
    Cell Significance Index: 0.9800
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.0086
    Cell Significance Index: 0.1100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0052
    Cell Significance Index: 0.6700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0018
    Cell Significance Index: 0.1400
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0007
    Cell Significance Index: -0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0011
    Cell Significance Index: -2.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0013
    Cell Significance Index: -2.3600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0013
    Cell Significance Index: -2.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0013
    Cell Significance Index: -1.7100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0024
    Cell Significance Index: -0.4800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0026
    Cell Significance Index: -0.4500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0028
    Cell Significance Index: -2.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0028
    Cell Significance Index: -2.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0028
    Cell Significance Index: -1.5400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0031
    Cell Significance Index: -0.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0032
    Cell Significance Index: -2.0400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0034
    Cell Significance Index: -2.1400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0035
    Cell Significance Index: -2.0000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0047
    Cell Significance Index: -2.1400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0096
    Cell Significance Index: -2.0200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0099
    Cell Significance Index: -1.9600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0103
    Cell Significance Index: -1.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0118
    Cell Significance Index: -1.6300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0132
    Cell Significance Index: -0.8300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0134
    Cell Significance Index: -1.9500
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0253
    Cell Significance Index: -0.2400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0260
    Cell Significance Index: -0.7500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0262
    Cell Significance Index: -1.6100
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.0282
    Cell Significance Index: -0.2500
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0294
    Cell Significance Index: -0.3800
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.0318
    Cell Significance Index: -0.3700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0320
    Cell Significance Index: -2.1500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0328
    Cell Significance Index: -1.5300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0329
    Cell Significance Index: -2.0200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0353
    Cell Significance Index: -1.6000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0376
    Cell Significance Index: -1.9600
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: -0.0405
    Cell Significance Index: -0.4500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0414
    Cell Significance Index: -1.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0415
    Cell Significance Index: -2.3300
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0417
    Cell Significance Index: -0.6000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0420
    Cell Significance Index: -0.9200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0455
    Cell Significance Index: -1.4500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0473
    Cell Significance Index: -1.5500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0506
    Cell Significance Index: -2.3800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0519
    Cell Significance Index: -1.6400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0538
    Cell Significance Index: -0.9300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0539
    Cell Significance Index: -1.3500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0543
    Cell Significance Index: -2.0000
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0546
    Cell Significance Index: -0.6900
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0570
    Cell Significance Index: -0.6100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0574
    Cell Significance Index: -1.6000
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.0596
    Cell Significance Index: -0.6900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0599
    Cell Significance Index: -1.6300
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0609
    Cell Significance Index: -0.6300
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.0632
    Cell Significance Index: -0.3900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0660
    Cell Significance Index: -1.4000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0662
    Cell Significance Index: -1.9500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0690
    Cell Significance Index: -1.8400
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0696
    Cell Significance Index: -0.9700
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0703
    Cell Significance Index: -0.8200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0714
    Cell Significance Index: -1.5200
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0715
    Cell Significance Index: -0.8700
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0718
    Cell Significance Index: -0.7100
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.0720
    Cell Significance Index: -1.2300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0727
    Cell Significance Index: -1.4600
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.0746
    Cell Significance Index: -0.8000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0757
    Cell Significance Index: -2.1600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0764
    Cell Significance Index: -1.5100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0775
    Cell Significance Index: -1.6800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0776
    Cell Significance Index: -1.8600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0782
    Cell Significance Index: -1.5600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0786
    Cell Significance Index: -1.6800
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0786
    Cell Significance Index: -1.0600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0794
    Cell Significance Index: -1.7200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0796
    Cell Significance Index: -1.6200
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0798
    Cell Significance Index: -1.2800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0801
    Cell Significance Index: -2.0400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0802
    Cell Significance Index: -0.8300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0813
    Cell Significance Index: -2.3300
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0817
    Cell Significance Index: -1.1000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0834
    Cell Significance Index: -1.7400
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0875
    Cell Significance Index: -2.1200
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0899
    Cell Significance Index: -1.7700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** HSD17B3 is a type of 17-beta-hydroxysteroid dehydrogenase, which belongs to the short-chain dehydrogenase/reductase (SDR) family. This enzyme exhibits NAD+ dependent activity, converting androgens to estrogens and vice versa. The HSD17B3 gene is specifically expressed in various cell types, including retinal cone cells, cardiac endothelial cells, and intestinal crypt stem cells. Its expression is also notable in immune cells, such as immature innate lymphoid cells. **Pathways and Functions:** HSD17B3 is involved in several key biological pathways, including: 1. **Androgen Biosynthesis:** HSD17B3 catalyzes the conversion of testosterone to estradiol, a critical step in the biosynthesis of androgens. 2. **Fatty Acid Metabolism:** This enzyme participates in the metabolism of fatty acids, particularly in the synthesis of very long-chain fatty acyl-CoAs. 3. **Steroid Biosynthesis:** HSD17B3 is also involved in the biosynthesis of steroid hormones, including androgens and estrogens. 4. **Metabolism of Lipids and Steroids:** The enzyme plays a role in the metabolism of lipids and steroids, highlighting its importance in energy homeostasis. **Clinical Significance:** The dysregulation of HSD17B3 has been implicated in various diseases and disorders, including: 1. **Androgen Insensitivity Syndrome:** Mutations in the HSD17B3 gene can lead to androgen insensitivity syndrome, a condition characterized by impaired androgen action. 2. **Metabolic Disorders:** Altered HSD17B3 expression has been linked to metabolic disorders, such as obesity and insulin resistance. 3. **Cancer:** The enzyme's role in androgen biosynthesis makes it a potential target for cancer therapy, particularly in prostate cancer. 4. **Neurological Disorders:** HSD17B3's involvement in fatty acid metabolism suggests its potential role in neurological disorders, such as Alzheimer's disease. In conclusion, HSD17B3 is a vital enzyme involved in androgen biosynthesis, fatty acid metabolism, and steroid biosynthesis. Its dysregulation has significant implications for various diseases and disorders, highlighting the need for further research into its clinical significance.

Genular Protein ID: 2597422274

Symbol: DHB3_HUMAN

Name: 17-beta-hydroxysteroid dehydrogenase type 3

UniProtKB Accession Codes:

P37058 Q5U0Q6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 46 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 2 EMBL 5 Ensembl 2 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 5 Rhea 18 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8075637

Title: Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.

PubMed ID: 8075637

DOI: 10.1038/ng0594-34

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16216911

Title: Androgen metabolism via 17beta-hydroxysteroid dehydrogenase type 3 in mammalian and non-mammalian vertebrates: comparison of the human and the zebrafish enzyme.

PubMed ID: 16216911

DOI: 10.1677/jme.1.01853

PubMed ID: 27927697

Title: Absence of 11-keto reduction of cortisone and 11-ketotestosterone in the model organism zebrafish.

PubMed ID: 27927697

DOI: 10.1530/joe-16-0495

PubMed ID: 8550739

Title: Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

PubMed ID: 8550739

DOI: 10.1210/jcem.81.1.8550739

PubMed ID: 9758445

Title: A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

PubMed ID: 9758445

DOI: 10.1530/eje.0.1390330

PubMed ID: 9709959

Title: Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).

PubMed ID: 9709959

DOI: 10.1210/jcem.83.8.5052

PubMed ID: 11158067

Title: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

PubMed ID: 11158067

DOI: 10.1210/jcem.86.2.7172

PubMed ID: 26545797

Title: Biochemical analyses and molecular modeling explain the functional loss of 17beta-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.

PubMed ID: 26545797

DOI: 10.1016/j.jsbmb.2015.10.023

Sequence Information:

  • Length: 310
  • Mass: 34516
  • Checksum: 0643FF35ED979185
  • Sequence:
    • MGDVLEQFFI LTGLLVCLAC LAKCVRFSRC VLLNYWKVLP KSFLRSMGQW AVITGAGDGI 
GKAYSFELAK RGLNVVLISR TLEKLEAIAT EIERTTGRSV KIIQADFTKD DIYEHIKEKL 
AGLEIGILVN NVGMLPNLLP SHFLNAPDEI QSLIHCNITS VVKMTQLILK HMESRQKGLI 
LNISSGIALF PWPLYSMYSA SKAFVCAFSK ALQEEYKAKE VIIQVLTPYA VSTAMTKYLN 
TNVITKTADE FVKESLNYVT IGGETCGCLA HEILAGFLSL IPAWAFYSGA FQRLLLTHYV 
AYLKLNTKVR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.