Aliases
for HSD3BP4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta, Pseudogene 41 2 |
| External Ids: | HGNC: 52221 | Entrez Gene: 1281022 | Ensembl: ENSG000002038557 | | ORGUL members: | |
|---|
| NONCODE:n409391 | |
Export aliases for HSD3BP4 gene to outside databasesPrevious GC identifer: GC01U990089
|---|
Summaries
for HSD3BP4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for HSD3BP4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for HSD3BP4
Other transcription factors
Search SABiosciences Chromatin IP Primers for HSD3BP4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD3BP4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p13.1 Ensembl cytogenetic band: 1p12 HGNC cytogenetic band: 1p12HSD3BP4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P120106: view genomic region
(about GC identifiers)
Start:
|
120,106,503 bp from pter |
End:
|
120,115,199 bp from pter |
Size:
|
8,697 bases |
Orientation:
|
plus strand |
|
Proteins
for HSD3BP4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB: --
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_
HSD3BP4 Protein expression data from MOPED and PaxDb: --
Human Recombinant Protein Products for HSD3BP4:
Antibody Products for HSD3BP4:
Assay Products for HSD3BP4: |
Protein
Domains /
Families
for HSD3BP4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| -- |
Function
for HSD3BP4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
Genatlas biochemistry entry for HSD3BP4:hydroxysteroid 3-beta dehydrogenase/steroid delta 5-delta 4 isomerase, pseudogene 4
Animal Models:
Cell Line
Products: |  | GenScript Custom overexpressing Cell Line Services for HSD3BP4 | |  | Search LifeMap BioReagents cell lines for HSD3BP4 | In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3BP4 |
Pathways & Interactions
for HSD3BP4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HSD3BP4
|
Drugs & Compounds
for HSD3BP4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
HSD3BP4 for compounds About GeneDecksing
 Browse Tocris compounds for HSD3BP4
10/45 Novoseek chemical compound relationships for HSD3BP4 gene (see all 45) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 3beta-hydroxysteroid |
98.8 |
380 |
8456898 (4), 7984541 (4), 1639345 (3), 7951484 (3) (see all 99) |
| 17-hydroxypregnenolone |
92.1 |
11 |
8456898 (1), 1339198 (1), 7758231 (1), 8045980 (1) (see all 6) |
| dhea |
85.6 |
18 |
7873453 (1), 8855801 (1), 1339198 (1), 8501162 (1) (see all 16) |
| trilostane |
84.7 |
9 |
8045986 (2), 1828176 (1), 8194632 (1), 8882291 (1) (see all 8) |
| 17-hydroxyprogesterone |
84 |
3 |
1339198 (1), 1668983 (1), 8106610 (1) |
| epostane |
82.9 |
5 |
1996619 (1), 1300055 (1), 1500839 (1) |
| androstenedione |
82.1 |
6 |
17548088 (2), 1846006 (1), 2026751 (1), 8557160 (1) |
| 17beta-hydroxysteroid |
78.1 |
17 |
11375796 (2), 8387158 (2), 7892288 (1), 8737913 (1) (see all 15) |
| dehydroepiandrosterone sulfate |
76 |
8 |
2146126 (1), 7962271 (1), 2143469 (1), 8855801 (1) (see all 7) |
| steroid |
75 |
21 |
8943800 (1), 8964869 (1), 8316254 (1), 8525490 (1) (see all 20) |
Search CenterWatch for drugs/clinical trials and news about HSD3BP4 
|
Transcripts
for HSD3BP4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
Unigene Cluster for HSD3BP4: Hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 Hs.681806 [show with all ESTs]Unigene Representative Sequence: NR_0337812 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000511509 ENST00000335580(uc021osu.1)
Additional cDNA sequence: AF252254.1 NR_033781.1 5 DOTS entries: DT.455031 DT.104113 DT.117306 DT.75196507 DT.91973341 3 AceView cDNA sequences: AI458266 BX115630 AF252254
GeneLoc Exon Structure
|
Expression
for HSD3BP4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HSD3BP4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
SOURCE GeneReport for Unigene cluster: Hs.681806
SABiosciences Custom PCR Arrays for HSD3BP4
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat HSD3BP4 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HSD3BP4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSD3BP4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3BP4 |
Orthologs
for HSD3BP4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
--
ENSEMBL Gene Tree for HSD3BP4 (if available)
TreeFam Gene Tree for HSD3BP4 (if available) |
Paralogs
for HSD3BP4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for HSD3BP4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HSD3BP4 (120106503 - 120115199 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HSD3BP4: -- | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for HSD3BP4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HSD3BP4 for disorders About GeneDecksing
20/40  diseases for HSD3BP4 (see all 40): About MalaCards3-beta-hydroxysteroid dehydrogenase deficiency 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia smith-lemli-opitz syndrome late-onset congenital adrenal hyperplasia
adrenal hyperplasia sertoli-leydig cell tumor leydig cell tumor polycystic ovary syndrome
gonadal dysgenesis premature ovarian failure pseudohermaphroditism virilization
cushing's syndrome hyperandrogenism gynecomastia addison's disease
ovarian cyst insulin resistance essential hypertension adrenocortical tumor
10/26 Novoseek disease relationships for HSD3BP4 gene (see all 26) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| adrenal hyperplasia congenital |
84.3 |
22 |
11344940 (2), 8316254 (2), 7951484 (2), 2362435 (1) (see all 19) |
| pseudohermaphroditism male |
70.4 |
2 |
1879398 (1), 8481355 (1) |
| hyperandrogenism |
65.9 |
9 |
8456898 (3), 7984541 (3), 8000336 (1), 1330378 (1) |
| virilization |
63.4 |
2 |
8112725 (1), 9059565 (1) |
| adenoma adrenocortical |
60.2 |
2 |
1448379 (1), 8288710 (1) |
| cushing syndrome |
60 |
3 |
2146126 (1), 2219621 (1), 8288710 (1) |
| polycystic ovary syndrome |
58.4 |
7 |
1832519 (2), 10813104 (1), 1968168 (1), 1295433 (1) (see all 5) |
| enzyme deficiency |
57.9 |
1 |
9880115 (1) |
| oligomenorrhea |
56.5 |
1 |
9030967 (1) |
| thecoma |
51.7 |
1 |
1700972 (1) |
Export disorders for HSD3BP4 gene to outside databases
|
Publications
for HSD3BP4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HSD3BP4 gene, integrated from 9 sources (see all 252):
(articles sorted by number of sources associating them with HSD3BP4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human. (PubMed id 10552929)1, 3 McBride M.W....Sutcliffe R.G. (1999)
- New members of the 3 beta-hydroxysteroid dehydrogenase gene family. (PubMed id 7603471)1, 9 McBride M.W.... Sutcliffe R.G. (1995)
- Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase. (PubMed id 7588414)1, 9 Russell A.J.... Sutcliffe R.G. (1995)
- Pubertal changes in testicular 3 beta-hydroxysteroid dehydrogenase activity in a male with classical 3 beta-hydroxysteroid dehydrogenase deficiency showing spontaneous secondary sexual maturation. (PubMed id 9251925)9 Yoshimoto M....Sasano H. (1997)
- [Late onset hyperandrogenism caused by 3-beta-hydroxysteroid dehydrogenase deficiency] (PubMed id 7984541)9 Meer A....Lifchitz E. (1994)
- 3 beta-hydroxysteroid dehydrogenase deficiency in hyperandrogenism. (PubMed id 8456898)9 Azziz R....Boots L.R. (1993)
- Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency. (PubMed id 9029734)9 Morel Y....Simard J. (1997)
- Affinity labeling identifies histidine at the active site of human placental 3 beta-hydroxysteroid dehydrogenase and steroid 5-->4-ene-isomerase. (PubMed id 8475968)9 Strickler R.C. and Thomas J.L. (1993)
- A case of late-onset congenital adrenal hyperplasia d ue to partial 3 beta-hydroxysteroid dehydrogenase deficiency. (PubMed id 7951484)9 Hattori N....Kurahachi H. (1993)
- Purification of 3 alpha-hydroxysteroid and 3 beta-hydroxysteroid dehydrogenases from human liver cytosol. (PubMed id 1639345)9 Takikawa H....Yamanaka M. (1992)
|
External Searches for HSD3BP4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HSD3BP4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HSD3BP4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HSD3BP4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for HSD3BP4 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for HSD3BP4 gene:
Search GeneIP for patents involving HSD3BP4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for HSD3BP4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 |
| | | | |
 |
 |
|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HSD3BP4 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HSD3BP4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD3BP4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HSD3BP4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSD3BP4 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HSD3BP4 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for HSD3BP4 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3BP4 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for HSD3BP4 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HSD3BP4 |
| |  | |
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