Details for: HSD17B3

Gene ID: 3293

Symbol: HSD17B3

Ensembl ID: ENSG00000130948

Description: hydroxysteroid 17-beta dehydrogenase 3

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 2.38
    Marker Score: 6830.5
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 1.4
    Marker Score: 11808
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.37
    Marker Score: 2793
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.35
    Marker Score: 2550
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 1.32
    Marker Score: 1890
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 1.3
    Marker Score: 4178
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 857
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.21
    Marker Score: 879.5
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 488
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4815
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.11
    Marker Score: 452
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71824
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48050
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.99
    Marker Score: 445
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 510
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5352
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326.5
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.89
    Marker Score: 407
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5288
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.85
    Marker Score: 13287.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.77
    Marker Score: 464
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 694
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.75
    Marker Score: 356
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 463
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.61
    Marker Score: 1460
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.48
    Marker Score: 373
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 278
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.41
    Marker Score: 180
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.41
    Marker Score: 89
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.4
    Marker Score: 1312
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.38
    Marker Score: 201.5
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.36
    Marker Score: 115
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.34
    Marker Score: 197
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.34
    Marker Score: 292
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.29
    Marker Score: 992.5
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.22
    Marker Score: 225
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.22
    Marker Score: 220
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.21
    Marker Score: 622
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.2
    Marker Score: 474
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.2
    Marker Score: 116
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.19
    Marker Score: 124
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.18
    Marker Score: 47
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.17
    Marker Score: 56
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.17
    Marker Score: 63
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.17
    Marker Score: 215
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.16
    Marker Score: 59
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.16
    Marker Score: 61
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.16
    Marker Score: 945
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.16
    Marker Score: 40
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.16
    Marker Score: 58
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.15
    Marker Score: 140
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.15
    Marker Score: 255
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.15
    Marker Score: 172
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.14
    Marker Score: 50
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.14
    Marker Score: 157
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.14
    Marker Score: 124
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.14
    Marker Score: 94
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.13
    Marker Score: 62
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.12
    Marker Score: 73
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.12
    Marker Score: 308.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.12
    Marker Score: 38
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.12
    Marker Score: 91
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.11
    Marker Score: 111
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.11
    Marker Score: 40
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.11
    Marker Score: 213
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.11
    Marker Score: 121
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 0.11
    Marker Score: 25
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.11
    Marker Score: 137
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.11
    Marker Score: 44
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.1
    Marker Score: 26
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.1
    Marker Score: 38
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.1
    Marker Score: 50
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.1
    Marker Score: 205.5
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.1
    Marker Score: 401
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.1
    Marker Score: 23.5
  • Cell Name: tracheobronchial goblet cell (CL0019003)
    Fold Change: 0.09
    Marker Score: 26
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.09
    Marker Score: 116
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.09
    Marker Score: 110
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.09
    Marker Score: 25
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.09
    Marker Score: 24
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.09
    Marker Score: 121
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.09
    Marker Score: 888
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.09
    Marker Score: 86
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 0.08
    Marker Score: 26
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.08
    Marker Score: 50
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.08
    Marker Score: 24
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.08
    Marker Score: 25
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.08
    Marker Score: 223

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Other Information

**Key characteristics:** - DHB3 is a multi-functional enzyme that catalyzes the reduction of various steroids, including androstenedione, androstenediol, and testosterone. - It is highly expressed in the retina, where it is involved in the production of sex hormones. - It is also expressed in other tissues, such as the heart, lungs, and small intestine. **Pathways and functions:** - DHB3 is involved in the production of androgens, which are responsible for the development of male characteristics. - It is also involved in the metabolism of testosterone, which is a male sex hormone. - DHB3 is also involved in the synthesis of very long-chain fatty acyl-CoA, which is a precursor for the production of sex hormones. **Clinical significance:** - Mutations in the HSD17B3 gene have been linked to endocrine disorders, including congenital adrenal hyperplasia and testicular dysgenesis. - These disorders are caused by mutations that disrupt the function of DHB3, leading to an imbalance of androgens and estrogens in the body. - Therefore, DHB3 is an important target for the treatment of endocrine disorders. **Additional notes:** - DHB3 is a highly regulated gene, and its expression is controlled by various factors, including sex hormones, growth factors, and cytokines. - Mutations in the HSD17B3 gene can lead to the development of a variety of diseases, highlighting its importance in maintaining hormonal balance.

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 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 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 PROSITE-ProRule 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. For the full schema, download it here.