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Aliases for CYP7B1 Gene

Aliases for CYP7B1 Gene

  • Cytochrome P450 Family 7 Subfamily B Member 1 2 3 5
  • Cytochrome P450, Subfamily VIIB (Oxysterol 7 Alpha-Hydroxylase), Polypeptide 1 2 3
  • Oxysterol 7-Alpha-Hydroxylase 3 4
  • Cytochrome P450 7B1 3 4
  • Cytochrome P450, Family 7, Subfamily B, Polypeptide 1 2
  • Spastic Paraplegia 5A (Autosomal Recessive) 2
  • 25-Hydroxycholesterol 7-Alpha-Hydroxylase 3
  • EC 1.14.14.29 4
  • CBAS3 3
  • SPG5A 3
  • CP7B 3

External Ids for CYP7B1 Gene

Previous HGNC Symbols for CYP7B1 Gene

  • SPG5A

Previous GeneCards Identifiers for CYP7B1 Gene

  • GC08M064752
  • GC08M065448
  • GC08M065223
  • GC08M065558
  • GC08M065671
  • GC08M060998
  • GC08M065500

Summaries for CYP7B1 Gene

Entrez Gene Summary for CYP7B1 Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]

GeneCards Summary for CYP7B1 Gene

CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP7B1 include Spastic Paraplegia 5A, Autosomal Recessive and Bile Acid Synthesis Defect, Congenital, 3. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP7A1.

UniProtKB/Swiss-Prot for CYP7B1 Gene

  • Oxysterol 7alpha-hydroxylase that mediates formation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) from 25-hydroxycholesterol (PubMed:10588945). Plays a key role in cell positioning and movement in lymphoid tissues: 7-alpha,25-dihydroxycholesterol (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 (By similarity).

Gene Wiki entry for CYP7B1 Gene

Additional gene information for CYP7B1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP7B1 Gene

Genomics for CYP7B1 Gene

GeneHancer (GH) Regulatory Elements for CYP7B1 Gene

Promoters and enhancers for CYP7B1 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
GH08J064797 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +0.2 220 1.3 HDGF CTCF IRF2 MXI1 TAF1 RB1 BACH1 EBF1 ZNF48 ZFHX2 LOC105375879 CYP7B1 LOC105375878 PIR54141
GH08J064755 Enhancer 1.2 FANTOM5 Ensembl ENCODE 15.4 +41.7 41696 2.3 PKNOX1 SMAD1 RB1 YBX1 BATF IRF4 ZNF207 ATF7 ETV6 IKZF2 CYP7B1 LINC01299 LOC105375878 PIR54141 ENSG00000254330 GC08P064658
GH08J064694 Enhancer 1 Ensembl ENCODE 15.4 +103.4 103359 1 HDGF PKNOX1 SMAD1 BMI1 BATF IRF4 RAD21 CBX5 ZNF143 ATF7 CYP7B1 LOC105375878 ENSG00000254330 GC08P064658
GH08J064863 Enhancer 1.1 FANTOM5 ENCODE 11.5 -65.3 -65315 1.3 HDGF PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 ATF7 ETV6 IKZF2 CYP7B1 GC08P064822 GC08P064916
GH08J064871 Enhancer 0.6 VISTA UCNEbase 11.2 -73.5 -73531 1.2 CYP7B1 GC08P064916 GC08P064822
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYP7B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP7B1 gene promoter:
  • POU2F1a
  • POU2F1
  • PPAR-gamma2
  • PPAR-gamma1
  • STAT1
  • Pax-4a
  • Evi-1
  • Tal-1
  • E47
  • Tal-1beta

Genomic Locations for CYP7B1 Gene

Genomic Locations for CYP7B1 Gene
chr8:64,587,763-64,798,791
(GRCh38/hg38)
Size:
211,029 bases
Orientation:
Minus strand
chr8:65,500,320-65,711,348
(GRCh37/hg19)
Size:
211,029 bases
Orientation:
Minus strand

Genomic View for CYP7B1 Gene

Genes around CYP7B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP7B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP7B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP7B1 Gene

Proteins for CYP7B1 Gene

  • Protein details for CYP7B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75881-CP7B1_HUMAN
    Recommended name:
    25-hydroxycholesterol 7-alpha-hydroxylase
    Protein Accession:
    O75881
    Secondary Accessions:
    • B2RN07
    • Q9UNF5

    Protein attributes for CYP7B1 Gene

    Size:
    506 amino acids
    Molecular mass:
    58256 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP7B1 Gene

Post-translational modifications for CYP7B1 Gene

  • Ubiquitination at posLast=256256 and posLast=218218
  • Modification sites at PhosphoSitePlus

Other Protein References for CYP7B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP7B1 Gene

Domains & Families for CYP7B1 Gene

Gene Families for CYP7B1 Gene

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

Protein Domains for CYP7B1 Gene

Suggested Antigen Peptide Sequences for CYP7B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75881

UniProtKB/Swiss-Prot:

CP7B1_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP7B1: view

Function for CYP7B1 Gene

Molecular function for CYP7B1 Gene

UniProtKB/Swiss-Prot Function:
Oxysterol 7alpha-hydroxylase that mediates formation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) from 25-hydroxycholesterol (PubMed:10588945). Plays a key role in cell positioning and movement in lymphoid tissues: 7-alpha,25-dihydroxycholesterol (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 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Cholest-5-ene-3-beta,25-diol + [reduced NADPH--hemoprotein reductase] + O(2) = cholest-5-ene-3-beta,7-alpha,25-triol + [oxidized NADPH--hemoprotein reductase] + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
(25R)-cholest-5-ene-3-beta,26-diol + [reduced NADPH--hemoprotein reductase] + O(2) = (25R)-cholest-5-ene-3-beta,7-alpha,26-triol + [oxidized NADPH--hemoprotein reductase] + H(2)O.
GENATLAS Biochemistry:
cytochrome p450,subfamily VIIB (oxysterol 7 alpha hydroxylase),polypeptide 1,microsomal,component of the acidic pathway of primary bile acids synthesis,closely linked to CYP7A1

Enzyme Numbers (IUBMB) for CYP7B1 Gene

Phenotypes From GWAS Catalog for CYP7B1 Gene

Gene Ontology (GO) - Molecular Function for CYP7B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity IBA --
GO:0008396 oxysterol 7-alpha-hydroxylase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with CYP7B1: view
genes like me logo Genes that share phenotypes with CYP7B1: view

Human Phenotype Ontology for CYP7B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP7B1 Gene

MGI Knock Outs for CYP7B1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP7B1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CYP7B1 Gene

Localization for CYP7B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP7B1 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral 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 CYP7B1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
peroxisome 2
golgi apparatus 2
plasma membrane 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CYP7B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0031090 organelle membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with CYP7B1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP7B1 Gene

Pathways & Interactions for CYP7B1 Gene

genes like me logo Genes that share pathways with CYP7B1: view

UniProtKB/Swiss-Prot O75881-CP7B1_HUMAN

  • Pathway: Lipid metabolism; bile acid biosynthesis.

Gene Ontology (GO) - Biological Process for CYP7B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006699 bile acid biosynthetic process TAS,IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
GO:0016125 sterol metabolic process TAS --
genes like me logo Genes that share ontologies with CYP7B1: view

No data available for SIGNOR curated interactions for CYP7B1 Gene

Drugs & Compounds for CYP7B1 Gene

(11) Drugs for CYP7B1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Pregnenolone Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
25-Hydroxycholesterol Pharma Agonist 0
27-hydroxycholesterol Pharma Agonist LXR agonist; also ER partial agonist 0

(13) Additional Compounds for CYP7B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3 beta-Hydroxy-5-cholestenoate
  • (3beta)-3-Hydroxy-cholest-5-en-26-Oate
  • (3beta)-3-Hydroxy-cholest-5-en-26-Oic acid
  • 3 beta-Hydroxycholest-5-en-27-Oate
  • 3 beta-Hydroxycholest-5-en-27-Oic acid
  • 3-HCOA
6561-58-6
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-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
7-a,27-Dihydroxycholesterol
  • 5-Cholestene-3beta,7alpha,26-triol
  • 7-alpha,27-Dihydroxycholesterol
  • Cholest-5-ene-3beta,7alpha,26-triol
  • Cholest-5-ene-3beta,7alpha,27-triol
  • 5-Cholestene-3b,7a,26-triol
4725-24-0
7a-Hydroxydehydroepiandrosterone
  • 7alpha-OH-DHEA
  • 3beta,7alpha-Dihydroxy-5-androstene-17-one
  • 7a-OH-DHEA
  • 7α-OH-dhea
  • 3b,7a-Dihydroxy-5-androstene-17-one
53-00-9
genes like me logo Genes that share compounds with CYP7B1: view

Transcripts for CYP7B1 Gene

mRNA/cDNA for CYP7B1 Gene

(3) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP7B1 Gene

Cytochrome P450, family 7, subfamily B, polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP7B1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP7B1 Gene

No ASD Table

Relevant External Links for CYP7B1 Gene

GeneLoc Exon Structure for
CYP7B1
ECgene alternative splicing isoforms for
CYP7B1

Expression for CYP7B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP7B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CYP7B1 Gene

This gene is overexpressed in Liver (12.9), Stomach (10.5), Spleen (8.5), and Tlymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYP7B1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CYP7B1 Gene:

CYP7B1

SOURCE GeneReport for Unigene cluster for CYP7B1 Gene:

Hs.667720

mRNA Expression by UniProt/SwissProt for CYP7B1 Gene:

O75881-CP7B1_HUMAN
Tissue specificity: Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine.

Evidence on tissue expression from TISSUES for CYP7B1 Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Spleen(4.3)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP7B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • prostate
  • testicle
  • urinary bladder
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with CYP7B1: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CYP7B1 Gene

Orthologs for CYP7B1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYP7B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP7B1 34 33
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CYP7B1 34 33
  • 84.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CYP7B1 34 33
  • 81.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp7b1 16 34 33
  • 76.88 (n)
rat
(Rattus norvegicus)
Mammalia Cyp7b1 33
  • 76.38 (n)
oppossum
(Monodelphis domestica)
Mammalia CYP7B1 34
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP7B1 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP7B1 34 33
  • 65.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP7B1 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp7b1 33
  • 63.11 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC570455 33
  • 53.28 (n)
cyp7c1 34
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4049 34
  • 36 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
Species where no ortholog for CYP7B1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CYP7B1 Gene

ENSEMBL:
Gene Tree for CYP7B1 (if available)
TreeFam:
Gene Tree for CYP7B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP7B1: view image

Paralogs for CYP7B1 Gene

Paralogs for CYP7B1 Gene

(5) SIMAP similar genes for CYP7B1 Gene using alignment to 2 proteins:

  • CP7B1_HUMAN
  • Q05C57_HUMAN
genes like me logo Genes that share paralogs with CYP7B1: view

Variants for CYP7B1 Gene

Sequence variations from dbSNP and Humsavar for CYP7B1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1026487452 uncertain-significance, Spastic Paraplegia, Recessive, Congenital Bile Acid Synthesis Defect 64,798,686(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant
rs113473170 likely-benign, Congenital Bile Acid Synthesis Defect, Spastic Paraplegia, Recessive 64,596,113(-) T/C 3_prime_UTR_variant
rs116171274 pathogenic, likely-pathogenic, uncertain-significance, Spastic paraplegia 5A, Spastic paraplegia, not provided, Spastic Paraplegia, Recessive, Congenital Bile Acid Synthesis Defect, Hereditary spastic paraplegia, not specified, Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] 64,596,707(-) G/A/T coding_sequence_variant, missense_variant
rs118000312 likely-benign, Congenital Bile Acid Synthesis Defect, Spastic Paraplegia, Recessive 64,596,305(-) A/C 3_prime_UTR_variant
rs121908610 pathogenic, Spastic paraplegia 5A, Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] 64,604,827(-) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CYP7B1 Gene

Variant ID Type Subtype PubMed ID
nsv981948 CNV duplication 23825009
nsv6231 CNV deletion 18451855
nsv611449 CNV loss 21841781
nsv475080 CNV novel sequence insertion 20440878
nsv1149618 CNV duplication 26484159
nsv1129807 CNV tandem duplication 24896259
esv2761434 CNV gain 21179565
esv1348944 CNV deletion 17803354
esv1348104 CNV deletion 17803354

Variation tolerance for CYP7B1 Gene

Residual Variation Intolerance Score: 8.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.29; 53.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP7B1 Gene

Human Gene Mutation Database (HGMD)
CYP7B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP7B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP7B1 Gene

Disorders for CYP7B1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CYP7B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 5a, autosomal recessive
  • spg5a
bile acid synthesis defect, congenital, 3
  • cbas3
spastic paraplegia 5a
  • spastic paraplegia 5a, autosomal recessive
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
congenital bile acid synthesis defect
  • bile acid synthesis defect, congenital, 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP7B1_HUMAN
  • Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:18252231, ECO:0000269 PubMed:19439420, ECO:0000269 PubMed:21214876, ECO:0000269 PubMed:24117163, ECO:0000269 PubMed:26714052, ECO:0000269 PubMed:27217339}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Congenital bile acid synthesis defect 3 (CBAS3) [MIM:613812]: A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. {ECO:0000269 PubMed:9802883}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CYP7B1 Gene

severe cholestasis with neonatal cirrhosis and liver synthetic failure with extremely high levels of 27-hydroxycholesterol

Additional Disease Information for CYP7B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CYP7B1: view

Publications for CYP7B1 Gene

  1. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. (PMID: 18252231) Tsaousidou MK … Crosby AH (American journal of human genetics 2008) 2 3 4 22 58
  2. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (PMID: 19439420) Goizet C … Stevanin G (Brain : a journal of neurology 2009) 3 4 22 58
  3. Dehydroepiandrosterone 7alpha-hydroxylation in human tissues: possible interference with type 1 11beta-hydroxysteroid dehydrogenase-mediated processes. (PMID: 17467270) Hennebert O … Morfin R (The Journal of steroid biochemistry and molecular biology 2007) 3 22 25 58
  4. A functional C-G polymorphism in the CYP7B1 promoter region and its different distribution in Orientals and Caucasians. (PMID: 15007371) Jakobsson J … Ekström L (The pharmacogenomics journal 2004) 3 22 44 58
  5. Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1. (PMID: 10588945) Wu Z … Chiang JY (Journal of lipid research 1999) 3 4 22 58

Products for CYP7B1 Gene

Sources for CYP7B1 Gene

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