Property Summary

NCBI Gene PubMed Count 13
PubMed Score 12.39
PubTator Score 16.45

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
pilocytic astrocytoma 1.200 0.000

Synonym

Accession Q9H2F3 Q96M28 Q9BSN9
Symbols CBAS1
PFIC4
SDR11E3

Gene

PANTHER Protein Class (2)

Gene RIF (4)

PMID Text
26450365 Expression of steroid sulfated transporters and 3beta-HSD activity in endometrium of polycystic ovary syndrome
22095780 Homozygosity mapping identifies a bile acid biosynthetic defect (3beta-HSD deficiency due to a frameshift mutation in HSD3B7) in an adult with cirrhosis of unknown etiology.
21044367 Observational study of gene-disease association. (HuGE Navigator)
20531254 Mutations in the HSD3B7 gene account for autosomal recessive neonatal cholestasis caused by 3[beta]-hydroxy-[DELTA]5-C27-steroid dehydrogenase/isomerase deficiency.

AA Sequence

MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRVTAIQGDVTQA      1 - 70
HEVAAAVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTGTRFLVYTSSMEVVGPNTKGH     71 - 140
PFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKVRGGLPLVTCALRPTGIYGEGHQIMRDFYRQGL    141 - 210
RLGGWLFRAIPASVEHGRVYVGNVAWMHVLAARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCG    211 - 280
LRLVGARPLLPYWLLVFLAALNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSW    281 - 350
EDSRTRTILWVQAATGSAQ                                                       351 - 369
//

Text Mined References (14)

PMID Year Title
26450365 2015 Expression of steroid sulfated transporters and 3?-HSD activity in endometrium of women having polycystic ovary syndrome.
25416956 2014 A proteome-scale map of the human interactome network.
22095780 2012 Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.
21044367 2010 An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
20531254 2010 Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.
19027726 2009 The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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