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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP7B1 Gene

protein-coding GIFtS: 61
GCID: GC08M065500

cytochrome P450, family 7, subfamily B, polypeptide 1

(Previous names: cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase),...)
(Previous symbol: SPG5A)

Explore 24 diseases affiliated with
CYP7B1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 7, Subfamily B, Polypeptide 1¹ ²		Spastic Paraplegia 5A (Autosomal Recessive)¹
SPG5A¹ ² ⁵		25-Hydroxycholesterol 7-Alpha-Hydroxylase²
Cytochrome P450, Subfamily VIIB (Oxysterol 7 Alpha-Hydroxylase), Polypeptide 1¹ ²		CP7B²
Cytochrome P450 7B1² ³		Oxysterol 7alpha-Hydroxylase²
Oxysterol 7-Alpha-Hydroxylase² ³		EC 1.14.13.100³
CBAS3² ⁵

External Ids:	HGNC: 2652¹	Entrez Gene: 9420²	Ensembl: ENSG00000172817⁷	OMIM: 603711⁵	UniProtKB: O75881³

Export aliases for CYP7B1 gene to outside databases

Previous GC identifers: GC08M064752 GC08M065448 GC08M065223 GC08M065558 GC08M065671 GC08M060998

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP7B1:

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. (provided by RefSeq, Jul 2008)

Gene Wiki entry for CYP7B1

(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_000008.10 NC_018919.1 NT_008183.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYP7B1 gene promoter:
STAT1 Tal-1 Tal-1beta E47 Evi-1 PPAR-gamma1 POU2F1 POU2F1a PPAR-gamma2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYP7B1 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP7B1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP7B1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21.3 Ensembl cytogenetic band: 8q12.3 HGNC cytogenetic band: 8q21.3

CYP7B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP7B1 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M065500: view genomic region (about GC identifiers)

Start:	65,500,320 bp from pter	End:	65,711,348 bp from pter
Size:	211,029 bases	Orientation:	minus strand

(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/Swiss-Prot: CP7B1_HUMAN, O75881 (See protein sequence)

Recommended Name: 25-hydroxycholesterol 7-alpha-hydroxylase

Size: 506 amino acids; 58256 Da

Cofactor: Heme group (By similarity)

Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral

membrane protein

Secondary accessions: B2RN07 Q9UNF5

Explore the universe of human proteins at neXtProt for CYP7B1: NX_O75881

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75881

CYP7B1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004811.1

ENSEMBL proteins:

ENSP00000310721

Reactome Protein details: O75881
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	Uscn Proteins for CYP7B1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--

CYP7B1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CYP7B1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001128 Cyt_P450

IPR002403 Cyt_P450_E_grp-IV

IPR024204 Cyt_P450_CYP7A1-type

Graphical View of Domain Structure for InterPro Entry O75881

ProtoNet protein and cluster: O75881

1 Blocks protein family: IPB002403 E-class P450 group IV signature

UniProtKB/Swiss-Prot: CP7B1_HUMAN, O75881

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CP7B1_HUMAN, O75881

Catalytic activity: Cholest-5-ene-3-beta,25-diol + NADPH + O(2) = cholest-5-ene-3-beta,7-alpha,25-triol + NADP(+) +

H(2)O

Catalytic activity: Cholest-5-ene-3-beta,27-diol + NADPH + O(2) = cholest-5-ene-3-beta,7-alpha,27-triol + NADP(+) +

H(2)O

Genatlas biochemistry entry for CYP7B1:

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 Number (IUBMB): EC 1.14.13.100¹

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP7B1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005506	iron ion binding	IEA	--
GO:0008396	oxysterol 7-alpha-hydroxylase activity	IEA	--
GO:0009055	electron carrier activity	IEA	--
GO:0020037	heme binding	IEA	--
GO:0033783	25-hydroxycholesterol 7alpha-hydroxylase activity	IEA	--

CYP7B1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Cyp7b1^tm1Rus for CYP7B1
     5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cyp7b1):

endocrine/exocrine gland

homeostasis/metabolism

immune system

integument

reproductive system

CYP7B1 for phenotypes About GeneDecksing

(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

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Synthesis of bile acids and bile salts

	Synthesis of bile acids and bile salts	1.00			Bile acid and bile salt metabolism	0.70
	Primary bile acid biosynthesis	0.84			Synthesis of bile acids and bile salts via 27-hydroxycholesterol	0.37

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	1.00			cytochrome P450	0.73
	Phase 1 - Functionalization of compounds	0.74

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Biological oxidations

Biological oxidations

1.00

metapathway biotransformation

0.41

Endogenous sterols

Endogenous sterols

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 BioSystems Pathways for CYP7B1

	cytochrome P450
	metapathway biotransformation
	Tryptophan metabolism

5/9 Reactome Pathways for CYP7B1 (see all 9)

	Cytochrome P450 - arranged by substrate type
	Bile acid and bile salt metabolism
	Metabolism
	Synthesis of bile acids and bile salts
	Synthesis of bile acids and bile salts via 27-hydroxycholesterol

2 Kegg Pathways (Kegg details for CYP7B1):

	Primary bile acid biosynthesis
	Steroid hormone biosynthesis

UniProtKB/Swiss-Prot: CP7B1_HUMAN, O75881

Pathway: Lipid metabolism; bile acid biosynthesis

CYP7B1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CYP7B1

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/10 Interacting proteins for CYP7B1 (ENSP00000310721⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CH25H	ENSP00000360918⁴	STRING: ENSP00000360918
CYP11A1	ENSP00000268053⁴	STRING: ENSP00000268053
CYP17A1	ENSP00000358903⁴	STRING: ENSP00000358903
CYP27A1	ENSP00000258415⁴	STRING: ENSP00000258415
HSD3B1	ENSP00000358421⁴	STRING: ENSP00000358421

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006699	bile acid biosynthetic process	TAS	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0007613	memory	--	--
GO:0007623	circadian rhythm	--	--
GO:0008203	cholesterol metabolic process	IEA	--

CYP7B1 for ontologies About GeneDecksing

(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

CYP7B1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CYP7B1

10/13 HMDB Compounds for CYP7B1 (see all 13) About this table

Compound	Synonyms	CAS #	PubMed Ids
7a-Hydroxydehydroepiandrosterone	7a-Hydroxydehydroisoandrosterone (see all 9)	53-00-9	17467270
25-Hydroxycholesterol	(beta)-cholest-5-ene-3-25-diol (see all 8)	2140-46-7	--
3 beta,7 alpha-Dihydroxy-5-cholestenoate	3 beta,7 alpha-Dihydroxy-5-cholesten-26-oic acid (see all 8)	115538-84-6	--
3 beta-Hydroxy-5-cholestenoate	3 beta-Hydroxycholest-5-en-27-oic acid (see all 13)	6561-58-6	--
7-a,25-Dihydroxycholesterol	7alpha,25-Dihydroxycholesterol (see all 7)	64907-22-8	--
7-a,27-dihydroxycholesterol	5-Cholestene-3beta,7alpha,26-triol (see all 10)	4725-24-0	--
Cholest-5-ene	5-Cholestene (see all 3)	570-74-1	--
Epiandrosterone	3-Epiandrosterone (see all 16)	481-29-8	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--

9 Novoseek chemical compound relationships for CYP7B1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
5alpha-androstane-3alpha,17beta-diol	86.2	3	18331353 (1), 17825335 (1), 16630558 (1)
27-hydroxycholesterol	85	1	11971943 (1)
25-hydroxycholesterol	73.6	2	11284740 (2)
dhea	72.8	14	16720094 (3), 11284740 (2), 18331353 (1), 17467270 (1) (see all 6)
steroid	50.4	1	10588945 (1)
estrogen	47.3	14	18331353 (3), 18790053 (2), 16720094 (2), 16630558 (1)
cholesterol	46.5	11	18252231 (2), 10588945 (1), 18779653 (1), 7925343 (1) (see all 7)
sterol	34.7	2	15003524 (2)
testosterone	34	2	17825335 (1), 16630558 (1)

Search CenterWatch for drugs/clinical trials and news about CYP7B1 / CP7B1

(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, 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

REFSEQ mRNAs for CYP7B1 gene:

NM_004820.3

Unigene Cluster for CYP7B1:

Cytochrome P450, family 7, subfamily B, polypeptide 1

Hs.667720 [show with all ESTs]

Unigene Representative Sequence: NM_004820

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000523954 ENST00000310193(uc003xvj.2)

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Additional cDNA sequence:

AF029403.1 AF127090.1 BC029155.1 BC136574.1

1 DOTS entry:

DT.70102888

16 AceView cDNA sequences:

BP349825 AI400399 BC029155 AF029403 AI202593 BM729103 NM_004820 BI759047

CA312194 BU608658 AF127090 BG899005 BP348932 AL707985 BE815661 AW299315

GeneLoc Exon Structure

(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

CYP7B1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGACCCTGA

About this image

CYP7B1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Ovary

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CYP7B1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP7B1

SOURCE GeneReport for Unigene cluster: Hs.667720

UniProtKB/Swiss-Prot: CP7B1_HUMAN, O75881

Tissue specificity: Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine

SABiosciences Expression via Pathway-Focused PCR Arrays including CYP7B1:

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

Cellular Stress Responses in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
Assay Products:

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(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

This gene was present in the common ancestor of chordates.

Orthologs for CYP7B1 gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cyp7b1^{1 , 5}	cytochrome P450, family 7, subfamily b, polypeptide more^{1, 5}	76.46(n)¹ 67.14(a)¹		3 (4.98 cM)⁵ 13123¹ NM_007825.4¹ NP_031851.3¹ 18071950⁵
chicken (Gallus gallus)	Aves	CYP7B1¹	cytochrome P450, family 7, subfamily B, polypeptide more	65.59(n) 53.33(a)		420164 XM_418276.3 XP_418276.3
lizard (Anolis carolinensis)	Reptilia	CYP7B1⁶	--	53(a)	1 ↔ 1	4(30045010-30074158)
zebrafish (Danio rerio)	Actinopterygii	LOC570455¹	25-hydroxycholesterol 7-alpha-hydroxylase-like	53.39(n) 43.61(a)		570455 XM_693936.4 XP_699028.2

ENSEMBL Gene Tree for CYP7B1 (if available)
TreeFam Gene Tree for CYP7B1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CYP7B1 gene

CYP39A1² PTGIS² CYP7A1² CYP8B1²

5 SIMAP similar genes for CYP7B1 using alignment to 2 protein entries: CP7B1_HUMAN (see all proteins):

CYP7A1 CYP8B1 PGIS PTGIS CYP39A1

CYP7B1 for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs116171274^1,2	C,F,	pathogenic	60999507(+)	`CAAGCG/AGCTGT`	2	/R /C	mis¹		2		NA	4558
rs72554620^1,2	C	pathogenic	61007553(-)	`GTGTGC/TGAAAG`	2	R *	stg¹		0	--	--	--	--
rs121908613^1,2	C	pathogenic	61018515(-)	`TATTAT/AGTGCA`	2	/* /Y	stg¹		1		NA	4536
rs73237746^1,2	C,F,	--	60998308(+)	`TCACTG/TGGCTT`	1	--	ds500¹		3		WA	122
rs75412921^1,2		--	60998510(+)	`TAGAAC/TACATG`	1	--	ds500¹		1		WA	118
rs10088322^1,2	C,H	--	60998802(+)	`TTATGT/CAACCA`	1	--	ut3¹		6		NS EA NA	396
rs113473170^1,2	C,F,	--	60998913(+)	`CTCATT/CTAATG`	1	--	ut3¹		3		CSA WA	122
rs118000312^1,2	C,F,	--	60999105(+)	`ATTTGA/CGTGAT`	1	--	ut3¹		1		NA	120
rs115195350^1,2	C,F,	--	60999781(+)	`TTGAGT/CTCAAG`	1	--	int¹		1		WA	118
rs16931340^1,2	C,F,H,	--	61000557(+)	`CTGAGT/CGACCT`	1	--	int¹		9		NA NS EA WA	670

HapMap Linkage Disequilibrium report for CYP7B1 (65500320 - 65711348 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CYP7B1: --
Human Gene Mutation Database (HGMD): CYP7B1

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(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

CYP7B1 for disorders           About GeneDecksing

OMIM gene information: 603711
OMIM disorders: 270800
UniProtKB/Swiss-Prot: CP7B1_HUMAN, O75881

Defects in CYP7B1 are the cause of spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800].

Spastic paraplegia is 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

Defects in CYP7B1 are the cause of congenital bile acid synthesis defect type 3 (CBAS3) [MIM:613812]. Clinical

features include severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol

7-alpha-hydroxylase activity is undetectable

20/24 diseases for CYP7B1 (see all 24): About MalaCards

spastic paraplegia 5a bile acid synthesis defect, congenital, 3 spastic paraplegia congenital bile acid synthesis defect

paraplegia spasticity cholesterol hereditary spastic paraplegia

atherosclerosis rheumatoid arthritis hypertriglyceridemia cholestasis

prostate cancer liver disease pulmonary disease prostate adenocarcinoma

alzheimer's disease prostatitis arthritis adenocarcinoma

1 disease from the University of Copenhagen DISEASES database for CYP7B1:

Paraplegia

2 Novoseek disease relationships for CYP7B1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
prostate cancer	15.7	6	17639508 (2), 15007371 (1), 16630558 (1)
tumors	0	3	17639508 (1)

Genatlas disease: CYP7B1

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

27-hydroxycholesterol

Genetic Association Database (GAD): CYP7B1
Human Genome Epidemiology (HuGE) Navigator: CYP7B1 (10 documents)

Export disorders for CYP7B1 gene to outside databases

(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 CYP7B1 gene, integrated from 9 sources (see all 55):
(articles sorted by number of sources associating them with CYP7B1)

Utopia: connect your pdf to the dynamic
world of online information

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. (PubMed id 18252231)^{1, 2, 3, 9} Tsaousidou M.K.... Crosby A.H. (2008)
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7-alpha-hydroxylase gene causes severe neonatal liver disease. (PubMed id 9802883)^{1, 2, 3} Setchell K.D.R.... Russell D.W. (1998)
Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1. (PubMed id 10588945)^{1, 2, 9} Wu Z.L.... Chiang J.Y.L. (1999)
A functional C-G polymorphism in the CYP7B1 promoter region and its different distribution in Orientals and Caucasians. (PubMed id 15007371)^{1, 4, 9} Jakobsson J....Ekstrom L. (2004)
Dehydroepiandrosterone 7alpha-hydroxylation in human tissues: possible interference with type 1 11beta-hydroxysteroid dehydrogenase-mediated processes. (PubMed id 17467270)^{1, 6, 9} Hennebert O....Morfin R. (2007)
Involvement of the PI3K/Akt pathway in estrogen-mediated regulation of human CYP7B1: identification of CYP7B1 as a novel target for PI3K/Akt and MAPK signalling. (PubMed id 18790053)^{1, 9} Tang W....Norlin M. (2008)
CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions. (PubMed id 19687010)^{1, 9} Stiles A.R....Russell D.W. (2009)
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (PubMed id 19439420)^{1, 9} Goizet C....Stevanin G. (2009)
Regulation of steroid hydroxylase CYP7B1 by androgens and estrogens in prostate cancer LNCaP cells. (PubMed id 16630558)^{1, 9} Tang W. and Norlin M. (2006)
Transcriptional regulation of human oxysterol 7alpha-hydroxylase by sterol response element binding protein. (PubMed id 15003524)^{1, 9} Norlin M. and Chiang J.Y. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9420	HGNC: 2652	AceView: CYP7B1	Ensembl:ENSG00000172817	euGenes: HUgn9420
ECgene: CYP7B1	Kegg: 9420	H-InvDB: CYP7B1

(According to HUGE)
About This Section

(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 CYP7B1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP7B1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CYP7B1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CYP7B1 gene:
Search GeneIP for patents involving CYP7B1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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CYP7B1 Gene

cytochrome P450, family 7, subfamily B, polypeptide 1

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CYP7B1 Gene

cytochrome P450, family 7, subfamily B, polypeptide 1

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