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Aliases for HSD3B7 Gene

Aliases for HSD3B7 Gene

  • Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 11E, Member 3 2 3
  • Cholest-5-Ene-3-Beta,7-Alpha-Diol 3-Beta-Dehydrogenase 3 4
  • 3-Beta-Hydroxy-Delta(5)-C27 Steroid Oxidoreductase 3 4
  • 3 Beta-Hydroxysteroid Dehydrogenase Type VII 3 4
  • 3 Beta-Hydroxysteroid Dehydrogenase Type 7 3 4
  • C(27) 3-Beta-HSD 3 4
  • 3-Beta-HSD VII 3 4
  • 3 Beta-Hydroxy-Delta 5-C27-Steroid Oxidoreductase 3
  • C(27)-3BETA-HSD 3
  • EC 1.1.1.181 4
  • EC 1.1.1.- 4
  • SDR11E3 3
  • CBAS1 3
  • PFIC4 3

External Ids for HSD3B7 Gene

Previous GeneCards Identifiers for HSD3B7 Gene

  • GC16P031493
  • GC16P030993
  • GC16P031032
  • GC16P030905
  • GC16P030907
  • GC16P028558

Summaries for HSD3B7 Gene

Entrez Gene Summary for HSD3B7 Gene

  • This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

GeneCards Summary for HSD3B7 Gene

HSD3B7 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7) is a Protein Coding gene. Diseases associated with HSD3B7 include Bile Acid Synthesis Defect, Congenital, 1 and Congenital Bile Acid Synthesis Defect. Among its related pathways are Synthesis of bile acids and bile salts and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is HSD3B2.

UniProtKB/Swiss-Prot for HSD3B7 Gene

  • The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells.

Additional gene information for HSD3B7 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD3B7 Gene

Genomics for HSD3B7 Gene

GeneHancer (GH) Regulatory Elements for HSD3B7 Gene

Promoters and enhancers for HSD3B7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J030984 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 629.3 +0.4 386 2.1 HDGF CC2D1A ZFX ELF3 CTCF MNT ZNF148 POLR2A AHR MYC HSD3B7 ZNF785 ZNF720 ZNF48 ENSG00000260911 ENSG00000279196 SETD1A
GH16J030956 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31.8 -27.2 -27219 3.4 CC2D1A SP1 ZFX ELF3 MNT ZNF148 NKRF ZNF121 ZSCAN21 CDC5L SETD1A ENSG00000275263 SRCAP ENSG00000260267 INO80E ZNF764 ENSG00000260304 SMG1P5 ZNF747 KAT8
GH16J030921 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 30 -61.7 -61671 4.7 HDGF ZFX SP1 CC2D1A ELF3 CTCF ZKSCAN8 MNT SIX5 ZNF148 FBXL19-AS1 FBXL19 HSD3B7 SRCAP ENSG00000260304 ENSG00000260267 INO80E SETD1A ZNF764 SMG1P5
GH16J030939 Promoter/Enhancer 1.4 Ensembl ENCODE 41.1 -43.6 -43574 3.6 HDGF CC2D1A CTCF ZSCAN21 SP7 SP5 KLF14 RAD21 GLIS2 RXRA HSD3B7 ZNF668 TGFB1I1 KAT8 SETD1A ZNF646 MIR762 CTF1 BCL7C RNF40
GH16J031071 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22.6 +88.5 88530 5 ZNF473 ZNF652 SP1 CC2D1A ZFX ELF3 MNT SIX5 NKRF POLR2A ZNF646 ZNF668 PIR37153 PIR38332 SETD1A KAT8 SRCAP ZNF720 ZNF785 FBRS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD3B7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSD3B7 gene promoter:
  • AhR
  • AP-1
  • Arnt
  • c-Fos
  • c-Jun
  • E47
  • Hand1
  • MIF-1
  • Pax-4a
  • Zic3

Genomic Locations for HSD3B7 Gene

Genomic Locations for HSD3B7 Gene
chr16:30,985,110-30,989,152
(GRCh38/hg38)
Size:
4,043 bases
Orientation:
Plus strand
chr16:30,996,519-31,000,473
(GRCh37/hg19)
Size:
3,955 bases
Orientation:
Plus strand

Genomic View for HSD3B7 Gene

Genes around HSD3B7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD3B7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD3B7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD3B7 Gene

Proteins for HSD3B7 Gene

  • Protein details for HSD3B7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2F3-3BHS7_HUMAN
    Recommended name:
    3 beta-hydroxysteroid dehydrogenase type 7
    Protein Accession:
    Q9H2F3
    Secondary Accessions:
    • Q96M28
    • Q9BSN9

    Protein attributes for HSD3B7 Gene

    Size:
    369 amino acids
    Molecular mass:
    41016 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HSD3B7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD3B7 Gene

Post-translational modifications for HSD3B7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HSD3B7 Gene

Domains & Families for HSD3B7 Gene

Gene Families for HSD3B7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HSD3B7 Gene

Suggested Antigen Peptide Sequences for HSD3B7 Gene

GenScript: Design optimal peptide antigens:
  • Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase (3BHS7_HUMAN)
  • cDNA FLJ78573 (Q96M28_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H2F3

UniProtKB/Swiss-Prot:

3BHS7_HUMAN :
  • Belongs to the 3-beta-HSD family.
Family:
  • Belongs to the 3-beta-HSD family.
genes like me logo Genes that share domains with HSD3B7: view

Function for HSD3B7 Gene

Molecular function for HSD3B7 Gene

UniProtKB/Swiss-Prot Function:
The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + H(+) + NADH; Xref=Rhea:RHEA:24076, ChEBI:CHEBI:1722, ChEBI:CHEBI:15378, ChEBI:CHEBI:47907, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=7alpha-hydroxycholesterol + NAD(+) = 7alpha-hydroxycholest-4-en-3-one + H(+) + NADH; Xref=Rhea:RHEA:11896, ChEBI:CHEBI:15378, ChEBI:CHEBI:17500, ChEBI:CHEBI:17899, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.181;.

Enzyme Numbers (IUBMB) for HSD3B7 Gene

Phenotypes From GWAS Catalog for HSD3B7 Gene

Gene Ontology (GO) - Molecular Function for HSD3B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IBA 21873635
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA,IEA 21873635
GO:0047016 cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity IBA,ISS --
genes like me logo Genes that share ontologies with HSD3B7: view
genes like me logo Genes that share phenotypes with HSD3B7: view

Human Phenotype Ontology for HSD3B7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSD3B7 Gene

MGI Knock Outs for HSD3B7:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD3B7

Clone Products

  • Applied Biological Materials (abm): Clones for HSD3B7 - Now 50% OFF >
  • * HSD3B7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * HSD3B7 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Transcription Factor Targets and HOMER Transcription for HSD3B7 Gene

Localization for HSD3B7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD3B7 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD3B7 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSD3B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid droplet IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HSD3B7: view

Pathways & Interactions for HSD3B7 Gene

genes like me logo Genes that share pathways with HSD3B7: view

UniProtKB/Swiss-Prot Q9H2F3-3BHS7_HUMAN

  • Pathway: Lipid metabolism; steroid biosynthesis.

Gene Ontology (GO) - Biological Process for HSD3B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IEA --
GO:0006699 bile acid biosynthetic process TAS 11067870
GO:0006707 cholesterol catabolic process IBA 21873635
GO:0035754 B cell chemotaxis IEA,ISS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HSD3B7: view

No data available for SIGNOR curated interactions for HSD3B7 Gene

Drugs & Compounds for HSD3B7 Gene

(3) Drugs for HSD3B7 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Full agonist, Agonist 0
NADH Approved Nutra 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(13) Additional Compounds for HSD3B7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(24S)-7alpha,24-Dihydroxycholesterol
  • (24S)-7alpha-Dihydroxycholesterol
  • (24S)-Cholest-5-ene-3beta,7alpha,24-triol
  • 5-Cholesten-3beta,7alpha,24(S)-triol
  • (24S)-7a-Dihydroxycholesterol
  • (24S)-7α-dihydroxycholesterol
3beta,7alpha-Dihydroxy-5-cholestenoate
  • 3beta,7alpha-Dihydroxy-5-cholesten-26-Oic acid
  • 3b,7a-Dihydroxy-5-cholesten-26-Oate
  • 3b,7a-Dihydroxy-5-cholesten-26-Oic acid
  • 3beta,7alpha-Dihydroxy-5-cholesten-26-Oate
  • 3β,7α-dihydroxy-5-cholesten-26-Oate
115538-84-6
7 alpha,24-Dihydroxy-4-cholesten-3-one
7 alpha,26-Dihydroxy-4-cholesten-3-one
  • (7alpha)-7,26-Dihydroxy-cholest-4-en-3-one
  • 4-Cholesten-7alpha,26-diol-3-one
  • 7,26-Dhxyclso
  • 7alpha,26-Dihydroxy-4-cholesten-3-one
  • 7alpha,26-Dihydroxycholest-4-en-3-one
4675-38-1
7-a,25-Dihydroxycholesterol
  • 3beta,7alpha,25-Trihydroxycholest-5-ene
  • 5-Cholesten-3beta,7alpha,25-triol
  • Cholest-5-ene-3beta,7alpha,25-triol
  • 3b,7a,25-Trihydroxycholest-5-ene
  • 3β,7α,25-trihydroxycholest-5-ene
64907-22-8
genes like me logo Genes that share compounds with HSD3B7: view

Transcripts for HSD3B7 Gene

mRNA/cDNA for HSD3B7 Gene

Unigene Clusters for HSD3B7 Gene

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD3B7

Clone Products

  • Applied Biological Materials (abm): Clones for HSD3B7 - Now 50% OFF >
  • * HSD3B7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * HSD3B7 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for HSD3B7 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - - - -
SP2: - -
SP3: - - - -
SP4: - -
SP5: - - -
SP6: - - -

Relevant External Links for HSD3B7 Gene

GeneLoc Exon Structure for
HSD3B7
ECgene alternative splicing isoforms for
HSD3B7

Expression for HSD3B7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSD3B7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD3B7 Gene

This gene is overexpressed in Liver (x10.6).

Protein differential expression in normal tissues from HIPED for HSD3B7 Gene

This gene is overexpressed in Testis (18.7), Liver (15.6), Islet of Langerhans (14.9), Adrenal (10.3), and Gallbladder (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD3B7 Gene



NURSA nuclear receptor signaling pathways regulating expression of HSD3B7 Gene:

HSD3B7

SOURCE GeneReport for Unigene cluster for HSD3B7 Gene:

Hs.460618

Evidence on tissue expression from TISSUES for HSD3B7 Gene

  • Stomach(4.2)
  • Liver(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD3B7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
  • heart
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with HSD3B7: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for HSD3B7 Gene

Orthologs for HSD3B7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD3B7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSD3B7 35 34
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HSD3B7 35 34
  • 87.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HSD3B7 35 34
  • 87.14 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd3b7 34
  • 83.98 (n)
mouse
(Mus musculus)
Mammalia Hsd3b7 17 35 34
  • 83.83 (n)
oppossum
(Monodelphis domestica)
Mammalia HSD3B7 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD3B7 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSD3B7 35
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSD3B7 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd3b7 34
  • 63.55 (n)
zebrafish
(Danio rerio)
Actinopterygii hsd3b7 35 34
  • 58.05 (n)
OneToOne
wufi12g10 34
fruit fly
(Drosophila melanogaster)
Insecta CG7724 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C32D5.12 35
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 35
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToMany
Species where no ortholog for HSD3B7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSD3B7 Gene

ENSEMBL:
Gene Tree for HSD3B7 (if available)
TreeFam:
Gene Tree for HSD3B7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSD3B7: view image

Paralogs for HSD3B7 Gene

Paralogs for HSD3B7 Gene

(3) SIMAP similar genes for HSD3B7 Gene using alignment to 3 proteins:

  • 3BHS7_HUMAN
  • I3L2H6_HUMAN
  • I3L2Q9_HUMAN
genes like me logo Genes that share paralogs with HSD3B7: view

Variants for HSD3B7 Gene

Sequence variations from dbSNP and Humsavar for HSD3B7 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs104894518 pathogenic, Bile acid synthesis defect, congenital, 1, Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765] 30,986,612(+) G/A coding_sequence_variant, missense_variant
rs1555492659 pathogenic, Bile acid synthesis defect, congenital, 1 30,986,074(+) GGGGG/GGGG coding_sequence_variant, frameshift
rs34212827 benign, not specified, - 30,988,113(+) T/C 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs387906288 pathogenic, Bile acid synthesis defect, congenital, 1 30,986,205(+) G/T splice_donor_variant
rs397514442 pathogenic, Bile acid synthesis defect, congenital, 1 30,988,112(+) CT/ 3_prime_UTR_variant, coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for HSD3B7 Gene

Variant ID Type Subtype PubMed ID
dgv35n68 CNV loss 17160897
nsv457483 CNV loss 19166990
nsv571820 CNV loss 21841781
nsv833193 CNV gain+loss 17160897
nsv953802 CNV deletion 24416366

Variation tolerance for HSD3B7 Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.24; 90.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD3B7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD3B7
Human Gene Mutation Database (HGMD)
HSD3B7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD3B7 Gene

Disorders for HSD3B7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HSD3B7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bile acid synthesis defect, congenital, 1
  • cbas1
congenital bile acid synthesis defect
  • bile acid synthesis defect, congenital, 1
cholestasis
  • bile occlusion
liver disease
  • disorder of liver
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

3BHS7_HUMAN
  • Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]: A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis. {ECO:0000269 PubMed:11067870, ECO:0000269 PubMed:12679481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HSD3B7

genes like me logo Genes that share disorders with HSD3B7: view

No data available for Genatlas for HSD3B7 Gene

Publications for HSD3B7 Gene

  1. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. (PMID: 12679481) Cheng JB … Russell DW (The Journal of clinical endocrinology and metabolism 2003) 3 4 23 58
  2. The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. (PMID: 11067870) Schwarz M … Russell DW (The Journal of clinical investigation 2000) 2 3 4 58
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for HSD3B7 Gene

Sources for HSD3B7 Gene

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