Property Summary

NCBI Gene PubMed Count 48
Grant Count 1
Funding $40,095
PubMed Score 90.60
PubTator Score 61.16

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
psoriasis -1.100 0.001
Alzheimer's disease -1.100 0.046
Pick disease -1.400 0.000
progressive supranuclear palsy -1.300 0.009

Synonym

Accession P37058 Q5U0Q6
Symbols EDH17B3
SDR12C2

Gene

PANTHER Protein Class (2)

 Grant Application (1)

Gene RIF (33)

PMID Text
26545797 Mutation G133R in HSD17B3 results in almost complete loss of enzyme activity since it interferes with binding of cofactor NADPH.
25894637 Mutations in the HSD17B3 gene is associated with Disorders of Sex Development.
25879310 Mutations in the HSD17B3 gene is associated with Disorders of Sex Development.
25740850 38% of unrelated 46,XY females with unknown diagnosis in the study have HSD17B3 mutations predicted to cause HSD17B3 deficiency.
25064799 Missense mutation in HSD17B3 gene in a 46, XY adolescent is associated with primary amenorrhea and virilization at puberty
24810473 Expression of the genes HSD3B1, HSD17B3, and SRD5A2 was significantly increased in BPH tissues compared to normal adjacent prostate tissues.
24157973 The H8 haplotype of the HSD17B3 gene was significantly associated with increased risks of acne vulgaris in Han Chinese from the Southwest China.
23953348 Androgen-metaboliizing enzymes, 17betaHSD5 and 5alpha1 immunoreactivity was decreased in metastatic lymph nodes of breast cancers.
23916922 Circulating testosterone levels were higher in men with early repolarization electrocardiograms.
23375913 in two sisters with 17beta hydroxysteroid dehydrogenase type 3 deficiency, a heterozygous mutation for both a known splicing mutation and a previously unreported amplification mutation of the HSD17B3 gene were identified
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AA Sequence

MGDVLEQFFILTGLLVCLACLAKCVRFSRCVLLNYWKVLPKSFLRSMGQWAVITGAGDGIGKAYSFELAK      1 - 70
RGLNVVLISRTLEKLEAIATEIERTTGRSVKIIQADFTKDDIYEHIKEKLAGLEIGILVNNVGMLPNLLP     71 - 140
SHFLNAPDEIQSLIHCNITSVVKMTQLILKHMESRQKGLILNISSGIALFPWPLYSMYSASKAFVCAFSK    141 - 210
ALQEEYKAKEVIIQVLTPYAVSTAMTKYLNTNVITKTADEFVKESLNYVTIGGETCGCLAHEILAGFLSL    211 - 280
IPAWAFYSGAFQRLLLTHYVAYLKLNTKVR                                            281 - 310
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Text Mined References (49)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26545797 2016 Biochemical analyses and molecular modeling explain the functional loss of 17?-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
25894637 2015 17?HSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.
25879310 2015 Two different patterns of mini-puberty in two 46,XY newborns with 17?-hydroxysteroid dehydrogenase type 3 deficiency.
25740850 2015 Screening for mutations in 17?-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
25064799 2015 A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty.
24810473 2015 Gene expression of androgen metabolising enzymes in benign and malignant prostatic tissues.
24665060 2014 Genome-wide association study of smoking behaviours among Bangladeshi adults.
24157973 2013 Association of HSD17B3 and HSD3B1 polymorphisms with acne vulgaris in Southwestern Han Chinese.
23953348 2013 Androgen and androgen-metabolizing enzymes in metastasized lymph nodes of breast cancer.
More...