Property Summary

NCBI Gene PubMed Count 26
Grant Count 3
Funding $388,536
PubMed Score 31.93
PubTator Score 18.79

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Multiple myeloma 1.174 0.010
malignant mesothelioma -1.600 0.000
active Crohn's disease 1.275 0.019
cystic fibrosis -1.200 0.000
ovarian cancer -1.700 0.000

Synonym

Accession Q53GQ0 A8K9B0 D3DR23 Q96EA9 Q96JU2 Q9Y6G8
Symbols KAR
SDR12C1

Gene

PANTHER Protein Class (2)

Gene RIF (12)

PMID Text
24058506 Significant associations have been found between CpG sites and patient sex, including DNA methylation in CASP6, a gene that may respond to estradiol treatment, and in HSD17B12, which encodes a sex steroid hormone.
23435447 These evidences were suggestive of a 46,XY DSD due to 17betaHSD3 deficiency. An homozygous mutation (IVS3 -1 G>C or c.326-1G>C) of the 17betaHSD3 gene was discovered.
22903146 HSD17B12 overexpression is shown to be a marker of poor survival in patients with ovarian cancer; expression in the tumor and function of this enzyme facilitates ovarian cancer progression.
22190034 HIV-1 Vpu is identified to have a physical interaction with hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
21409596 High HSD17B12 expression is associated with neoplasms.
20677014 Observational study of gene-disease association. (HuGE Navigator)
19533843 SREBP-1 represents one of the transcriptional regulators of human 17beta-HSD12.
19460435 There is no difference in catalytic properties between variants of 17beta-HSD types 7 and 12 and wild-type enzymes, while variants p.Glu77Gly and p.Lys183Arg in 17beta-HSD type 5 showed a slightly decreased activity.
19429442 determined the activity and expression levels of known estrogenic 17beta-HSDs, namely types 1, 7 and 12 17beta-HSD in preadipocytes before and after differentiation into mature adipocytes
19190350 17beta-HSD12 is not \related to intratumoral estradiol biosynthesis in human breast carcinoma, but is correlated with production of very long chain fatty acids and tumor progresssion.
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AA Sequence

MESALPAAGFLYWVGAGTVAYLALRISYSLFTALRVWGVGNEAGVGPGLGEWAVVTGSTDGIGKSYAEEL      1 - 70
AKHGMKVVLISRSKDKLDQVSSEIKEKFKVETRTIAVDFASEDIYDKIKTGLAGLEIGILVNNVGMSYEY     71 - 140
PEYFLDVPDLDNVIKKMININILSVCKMTQLVLPGMVERSKGAILNISSGSGMLPVPLLTIYSATKTFVD    141 - 210
FFSQCLHEEYRSKGVFVQSVLPYFVATKLAKIRKPTLDKPSPETFVKSAIKTVGLQSRTNGYLIHALMGS    211 - 280
IISNLPSWIYLKIVMNMNKSTRAHYLKKTKKN                                          281 - 312
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Text Mined References (30)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.
24929828 2014 Genome-wide association analysis identifies six new loci associated with forced vital capacity.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24169621 2014 Elucidating novel hepatitis C virus-host interactions using combined mass spectrometry and functional genomics approaches.
24058506 2013 Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans.
23435447 2013 The 17?-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature.
22941191 2012 Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
22903146 2012 17? Hydroxysteroid dehydrogenase type 12 (HSD17B12) is a marker of poor prognosis in ovarian carcinoma.
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