Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9420
Gene name	Cytochrome P450 family 7 subfamily B member 1
Gene symbol	CYP7B1
Synonyms (NCBI Gene)	CBAS3CP7BSPG5A
Chromosome	8
Chromosome location	8q12.3
Summary	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 r

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72554620	G>A	Pathogenic	Coding sequence variant, stop gained
rs114797034	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs116171274	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs121908610	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908611	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs121908612	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908613	A>G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121908614	C>T	Pathogenic	Missense variant, coding sequence variant
rs200737038	G>A	Pathogenic	Stop gained, coding sequence variant
rs267606758	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs367916692	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs371522442	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs535728519	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587777221	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs587777222	T>C	Pathogenic	Missense variant, coding sequence variant
rs746979262	G>A	Pathogenic	Stop gained, coding sequence variant
rs751713917	A>G	Pathogenic	Splice donor variant
rs754730601	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs769676029	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs770065565	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs770285398	GTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727501	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs886041525	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1060502224	->A	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1190562443	C>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1554524697	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1585808059	A>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018771	hsa-miR-335-5p	Microarray	18185580
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT608395	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608395	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT608951	hsa-miR-1915-3p	HITS-CLIP	24906430
MIRT608952	hsa-miR-6764-5p	HITS-CLIP	24906430
MIRT608950	hsa-miR-4455	HITS-CLIP	24906430
MIRT608949	hsa-miR-3650	HITS-CLIP	24906430
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608395	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608395	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT560897	hsa-miR-302f	PAR-CLIP	20371350
MIRT560896	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT560895	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT560894	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT560893	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT560892	hsa-miR-1273e	PAR-CLIP	20371350
MIRT560895	hsa-miR-4795-5p	PAR-CLIP	27292025
MIRT560896	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT560893	hsa-miR-7847-3p	PAR-CLIP	27292025
MIRT608951	hsa-miR-1915-3p	HITS-CLIP	27418678
MIRT608949	hsa-miR-3650	HITS-CLIP	27418678
MIRT608950	hsa-miR-4455	HITS-CLIP	27418678
MIRT608395	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608395	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608395	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608952	hsa-miR-6764-5p	HITS-CLIP	27418678
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT608395	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608395	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT560897	hsa-miR-302f	PAR-CLIP	20371350
MIRT560896	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT560895	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT560894	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT560893	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT560892	hsa-miR-1273e	PAR-CLIP	20371350
MIRT921903	hsa-miR-199a-5p	CLIP-seq
MIRT921904	hsa-miR-199b-5p	CLIP-seq
MIRT921905	hsa-miR-3688-3p	CLIP-seq
MIRT921906	hsa-miR-490-5p	CLIP-seq

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Transcription factor	Regulation	Reference
AR	Repression	16630558
SP1	Unknown	11470525

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IBA
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS	9802883
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008395	Function	Steroid hydroxylase activity	IBA
GO:0008396	Function	Oxysterol 7-alpha-hydroxylase activity	TAS	9802883
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IEA
GO:0030520	Process	Estrogen receptor signaling pathway	IEA
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0033782	Function	24S-hydroxycholesterol 7-alpha-hydroxylase activity	IEA
GO:0033783	Function	25-hydroxycholesterol 7-alpha-hydroxylase activity	IEA
GO:0035754	Process	B cell chemotaxis	IEA
GO:0035754	Process	B cell chemotaxis	ISS
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060740	Process	Prostate gland epithelium morphogenesis	IEA

MIM	HGNC	e!Ensembl
603711	2652	ENSG00000172817

O75881

Protein name

Cytochrome P450 7B1 (24-hydroxycholesterol 7-alpha-hydroxylase) (EC 1.14.14.26) (25/26-hydroxycholesterol 7-alpha-hydroxylase) (EC 1.14.14.29) (3-hydroxysteroid 7-alpha hydroxylase) (Oxysterol 7-alpha-hydroxylase)

Protein function

A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (PubMed:10588945, PubMed:24491228). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substra

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	46 → 500	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in brain, testis, ovary, prostate, liver, colon, kidney, small intestine, thymus and spleen. {ECO:0000269|PubMed:10588945}.

Sequence

MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVL
NLRKDPLRFMKTLQKQHGDTFTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLE
KAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAEL
YPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS
IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPT
MFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEAL
RLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPEEFRYDRFIE
DGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDDKPI
GLNYSRLLFGIQYPDSDVLFRYKVKS

Sequence length

506

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Steroid hormone biosynthesis		Synthesis of bile acids and bile salts Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Synthesis of bile acids and bile salts via 27-hydroxycholesterol Endogenous sterols Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)

678

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital bile acid synthesis defect 3	Pathogenic; Likely pathogenic	rs773976307, rs72554620, rs121908611, rs121908613, rs116171274, rs200737038, rs751713917, rs770285398, rs1245262159, rs747514399, rs1060502224, rs746979262, rs866340497	RCV005232673 RCV000006473 RCV005041995 RCV005049318 RCV002476935 RCV001312060 RCV005042455 RCV005044477 RCV005051368 RCV005040555 RCV002480408 RCV005044860 RCV003483790
CYP7B1-related disorder	Pathogenic; Likely pathogenic	rs587777222, rs121908611, rs116171274, rs1199682889, rs746979262	RCV003415876 RCV003894794 RCV003398453 RCV003893533 RCV004742515
Hereditary spastic paraplegia	Pathogenic; Likely pathogenic	rs587777222, rs121908610, rs121908611, rs121908613, rs116171274, rs200737038, rs1554524697, rs1298132281, rs748480664, rs866340497, rs747514385	RCV004782239 RCV001847590 RCV001847591 RCV000515995 RCV000516130 RCV001847930 RCV000515892 RCV001847139 RCV005912526 RCV002282486 RCV001847220
Hereditary spastic paraplegia 5A	Pathogenic; Likely pathogenic	rs587777222, rs72554620, rs121908610, rs121908614, rs121908611, rs121908612, rs121908613, rs267606758, rs116171274, rs200737038, rs751713917, rs770285398, rs1245262159, rs747514399, rs1060502224 View all (10 more)	RCV000106302 RCV000006474 RCV000006475 RCV000006476 RCV000006477 RCV000006478 RCV000006479 RCV000006480 RCV000006481 RCV005042442 RCV000490267 RCV003120382 RCV005044477 RCV005051368 RCV005040555 RCV002480408 RCV001391411 RCV003993670 RCV001391409 RCV001542583 RCV003483790 RCV001391410 RCV001391407 RCV001391404 RCV001391403 RCV001391400
Lung cancer	Likely pathogenic; Pathogenic	rs1385678413	RCV005910803
Spastic ataxia	Pathogenic	rs2129630194	RCV001647246
Spastic paraplegia	Likely pathogenic; Pathogenic	rs2129629942, rs587777222, rs773976307, rs2129629945, rs2129630217, rs1563367625, rs2536112446, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs1804744616, rs2536112593, rs2487154014 View all (41 more)	RCV003588741 RCV000200232 RCV002542493 RCV001910804 RCV001873040 RCV002667836 RCV002846772 RCV000800899 RCV003750776 RCV000206595 RCV000553161 RCV000197085 RCV002954208 RCV003014652 RCV003019914 RCV000206556 RCV002517441 RCV000230120 RCV000227207 RCV000233440 RCV003588485 RCV003590431 RCV003751031 RCV003751238 RCV003751106 RCV003751156 RCV003751671 RCV003751834 RCV003751964 RCV003752172 RCV003752189 RCV003752408 RCV003752371 RCV003752424 RCV003752530 RCV003752566 RCV003750311 RCV003750359 RCV003750472 RCV003751500 RCV003831508 RCV003847895 RCV003861234 RCV003874931 RCV003880885 RCV000466675 RCV003767256 RCV000800946 RCV001861991 RCV000821635 RCV001053764 RCV001054839 RCV003588718 RCV001212782 RCV001205312 RCV005094292 RCV003750858

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital bile acid synthesis defect	Conflicting classifications of pathogenicity; Uncertain significance	rs8192896, rs201281307, rs886063072, rs8192895, rs886063073	RCV000299831 RCV000269199 RCV000277203 RCV000290793 RCV000341489
Melanoma	Uncertain significance	rs1805446104	RCV005914011
Spastic Paraplegia, Recessive	Conflicting classifications of pathogenicity; Uncertain significance	rs8192896, rs201281307, rs886063072, rs8192895, rs886063073	RCV000275100 RCV000307928 RCV000369459 RCV000378188 RCV000379755

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35379924
Adrenoleukodystrophy	Associate	30544401
Amino Acid Metabolism Inborn Errors	Associate	31337596
Amyotrophic Lateral Sclerosis	Associate	34946825
Bile Acid Synthesis Defect Congenital 3	Associate	35387662
Breast Neoplasms	Associate	32075687, 37614064
Cholestasis	Associate	33849447
Cholestasis Intrahepatic	Associate	33849447
Colorectal Neoplasms	Associate	27341022
Congenital adrenal hyperplasia due to 11 Beta hydroxylase deficiency	Associate	21567895, 30546280, 31337596, 33849447
Coronary Disease	Associate	34493281
Diabetes Mellitus	Associate	29249638
Endometrial Neoplasms	Associate	29371332, 39289693
Facial paresis hereditary congenital	Associate	19812052
Fibrosis	Associate	21567895
Frontotemporal Dementia	Associate	34946825
Gait Disorders Neurologic	Associate	33849447
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	31337596
Immunologic Deficiency Syndromes	Associate	33849447
Kidney Diseases	Associate	21567895
Leukoencephalopathies	Associate	30333426
Liver Cirrhosis	Associate	30546280
Liver Diseases	Associate	33849447
Liver Failure	Associate	21567895, 24491228, 33849447
Liver Failure	Stimulate	25798860
Liver Neoplasms	Associate	34946825
Lupus Erythematosus Systemic	Associate	39438997
Mental Disorders	Associate	25571521
Neoplasms	Associate	29249638, 32075687
Nerve Degeneration	Associate	18252231, 37024986
Nervous System Diseases	Associate	24491228
Neurodegenerative Diseases	Associate	21335619
Non alcoholic Fatty Liver Disease	Stimulate	23391614
Paraparesis Spastic	Associate	30333426
Paraplegia	Associate	34946825
Poikiloderma with Neutropenia	Associate	37024986
Polycystic Kidney Diseases	Associate	21567895
Spastic Paraplegia Hereditary	Associate	26374131, 27879216, 27879220, 29126212, 29980238, 30333426, 33160247, 33849447, 34946825, 37024986
Xanthomatosis Cerebrotendinous	Associate	37024986

CYP7B1 (cytochrome P450 family 7 subfamily B member 1)