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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1593
Gene name Gene Name - the full gene name approved by the HGNC.	Cytochrome P450 family 27 subfamily A member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CYP27A1
Synonyms (NCBI Gene) Gene synonyms aliases	CP27, CTX, CYP27
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q35
Summary Summary of gene provided in NCBI Entrez 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 mitochondrial

Show/Hide all(96)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72551312	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, synonymous variant
rs72551313	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs72551314	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs72551315	C>T	Pathogenic	Coding sequence variant, stop gained
rs72551316	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs72551317	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs72551318	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs72551319	A>T	Pathogenic	Coding sequence variant, stop gained
rs72551320	A>G	Pathogenic	Coding sequence variant, missense variant
rs72551322	C>A,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72551323	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs79535262	G>C	Likely-pathogenic	Splice donor variant
rs111570247	A>C,G	Pathogenic	Splice acceptor variant
rs121908096	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908097	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908098	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908099	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908102	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs138596741	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs139279260	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs139415581	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs141519183	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, intron variant
rs143600636	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144455258	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148132118	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149897566	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs188850202	C>T	Pathogenic	Coding sequence variant, stop gained
rs191313794	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs199691576	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200553205	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs200883871	G>C	Pathogenic	Coding sequence variant, missense variant
rs201114717	C>G,T	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs201346271	G>C	Pathogenic	Coding sequence variant, missense variant
rs374507635	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs376230356	G>A	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs397515353	G>A	Pathogenic	Splice acceptor variant
rs397515354	G>A,C,T	Pathogenic	Splice donor variant
rs397515355	G>A,T	Pathogenic	Splice donor variant
rs397515356	TGGCC>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs533885672	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs573951598	C>T	Pathogenic	Coding sequence variant, missense variant
rs575064188	C>T	Pathogenic	Stop gained, coding sequence variant
rs587778777	G>A	Pathogenic	Splice donor variant
rs587778778	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587778779	G>A,T	Pathogenic	Splice acceptor variant
rs587778780	C>G	Pathogenic	Missense variant, coding sequence variant
rs587778782	G>T	Pathogenic	Stop gained, coding sequence variant
rs587778783	T>A,C,G	Pathogenic	Missense variant, coding sequence variant
rs587778784	G>A,T	Pathogenic	Intron variant
rs587778785	G>A	Pathogenic	Splice acceptor variant
rs587778787	C>T	Pathogenic	Missense variant, coding sequence variant
rs587778790	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778793	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778794	CCAGTAC>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778795	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs587778796	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs587778797	G>A,T	Pathogenic	Splice donor variant, intron variant
rs587778800	G>T	Pathogenic	Stop gained, coding sequence variant
rs587778802	->C	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587778804	G>T	Pathogenic	Splice acceptor variant
rs587778807	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587778808	C>A	Pathogenic	Stop gained, coding sequence variant
rs587778810	G>A	Pathogenic	Stop gained, coding sequence variant
rs587778812	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778815	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778818	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs730882199	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs753981913	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs755532803	CGAGAAACGCATT>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs765512351	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771819245	C>T	Pathogenic	Coding sequence variant, stop gained
rs777935791	T>C	Likely-pathogenic	Splice donor variant
rs886041342	->TGGGCTGCGC	Likely-pathogenic, pathogenic	5 prime UTR variant, frameshift variant, initiator codon variant
rs886044581	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886556800	G>T	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs1057519469	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1160640803	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, intron variant
rs1178297854	C>A,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs1178393503	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1319938730	G>A	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1343936087	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1406298698	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1470602732	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553614310	C>T	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1553616235	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553616253	T>C	Likely-pathogenic	Splice donor variant
rs1553616312	A>G	Likely-pathogenic	Splice acceptor variant
rs1553616457	A>C,T	Likely-pathogenic	Splice acceptor variant
rs1553616478	A>G	Likely-pathogenic	Splice acceptor variant
rs1553616508	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1559384522	->C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1559391390	A>G	Pathogenic	Splice acceptor variant, intron variant
rs1559391480	G>A	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs1559392331	CG>A	Pathogenic	Coding sequence variant, frameshift variant
rs1575206357	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575206688	C>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(13)

miRTarBase ID	miRNA	Experiments
MIRT921194	hsa-miR-1266	CLIP-seq
MIRT921195	hsa-miR-19a	CLIP-seq
MIRT921196	hsa-miR-19b	CLIP-seq
MIRT921197	hsa-miR-3650	CLIP-seq
MIRT921198	hsa-miR-3914	CLIP-seq
MIRT921199	hsa-miR-3936	CLIP-seq
MIRT921200	hsa-miR-4455	CLIP-seq
MIRT921201	hsa-miR-4518	CLIP-seq
MIRT921202	hsa-miR-4651	CLIP-seq
MIRT921203	hsa-miR-4708-3p	CLIP-seq
MIRT921204	hsa-miR-608	CLIP-seq
MIRT921205	hsa-miR-873	CLIP-seq
MIRT921206	hsa-miR-885-3p	CLIP-seq

Transcription factors

Show/Hide all(4)

Transcription factor	Regulation	Reference
HNF4A	Unknown	12957378
NR0B2	Unknown	15581596
SP1	Activation	11867220
SP3	Activation	11867220

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006066	Process	Alcohol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IDA	9660774, 11412116
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006707	Process	Cholesterol catabolic process	IDA	9660774
GO:0006707	Process	Cholesterol catabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008395	Function	Steroid hydroxylase activity	TAS	9790667
GO:0008610	Process	Lipid biosynthetic process	IEA
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	IDA	9660774
GO:0020037	Function	Heme binding	IEA
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IBA
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IDA	15465040
GO:0031073	Function	Cholesterol 26-hydroxylase activity	IBA
GO:0031073	Function	Cholesterol 26-hydroxylase activity	IDA	9660774, 12077124
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IBA
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IDA	15465040
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0044283	Process	Small molecule biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047748	Function	Cholestanetetraol 26-dehydrogenase activity	IDA	11412116
GO:0047748	Function	Cholestanetetraol 26-dehydrogenase activity	IEA

MIM	HGNC	e!Ensembl
606530	2605	ENSG00000135929

Protein

UniProt ID

Q02318

Protein name

Sterol 26-hydroxylase, mitochondrial (EC 1.14.15.15) (5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase) (Cytochrome P-450C27/25) (Cytochrome P450 27) (Sterol 27-hydroxylase) (Vitamin D(3) 25-hydroxylase)

Protein function

Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	61 → 526	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the neural retina and underlying retinal pigment epithelium (at protein level) (PubMed:21411718). Expressed in the gray and white matter of cerebellum (at protein level) (PubMed:28190002). {ECO:0000269|PubMed:21411718, ECO

Sequence

MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEI
PRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQ
EGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNE
VIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTF
VRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAA
GPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEA
LHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVVPTNSRIIEKEIEVDGFLFPK
NTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRR
IAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC

Sequence length

531

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Metabolic pathways PPAR signaling pathway Cholesterol metabolism		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Synthesis of bile acids and bile salts via 24-hydroxycholesterol Synthesis of bile acids and bile salts via 27-hydroxycholesterol Endogenous sterols Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
cholestanol storage disease	Cholestanol storage disease	rs397515354, rs771819245, rs72551315, rs886041342, rs587778777, rs79535262, rs201114717, rs121908097, rs1559391390, rs587778807, rs765512351, rs587778778, rs777935791, rs376230356, rs121908098 View all (59 more)	N/A
Mental retardation	intellectual disability	rs121908099, rs121908096	N/A

Show/Hide Text Mining Associations (78)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35379924, 37880277, 38204755
Adenocarcinoma of Lung	Inhibit	37817081
Adrenoleukodystrophy	Associate	30544401
Amyotrophic Lateral Sclerosis	Associate	20406759, 22509407, 25415378
Arthritis	Associate	32344004
Atherosclerosis	Associate	10869358, 12597773, 12777473, 15533057, 35428606
Biliary Atresia	Associate	34615940
Bone Diseases	Associate	25818344, 30405638, 34491903
Bone Diseases Metabolic	Associate	21997141
Bone Diseases Metabolic	Stimulate	35597928
Bone Resorption	Associate	11212160, 24014423, 27278385
Bone Resorption	Stimulate	33670411
Brain Diseases	Associate	35428606
Breast Neoplasms	Associate	19651608, 25060521, 29116467, 33176848, 35011656, 37584152
Carcinogenesis	Associate	23625514
Carcinoma Endometrioid	Associate	24732451
Cardiovascular Diseases	Associate	21498512
Cataract	Associate	26622071, 38216115
Cataract Nuclear Progressive	Associate	29434128, 7915755, 9186905, 9548584
Cataract Nuclear Progressive	Inhibit	35428606, 7915755, 9186905, 9548584
Cerebellar Ataxia	Associate	31796091
Cholelithiasis	Associate	19995447
Cognition Disorders	Associate	31796091
Colorectal Neoplasms	Associate	27341022, 32651213
Cushing Syndrome	Stimulate	28851260
Death	Associate	37210507
Dementia	Associate	26844446
Diabetes Mellitus	Inhibit	29249638
Diabetes Mellitus Type 2	Inhibit	28239825
Diabetes Mellitus Type 2	Associate	35257412
Dystonia	Associate	35041927, 8728324
Endometrial Neoplasms	Associate	24732451, 29371332
Epileptic Syndromes	Associate	26844446
Femoral Fractures Distal	Inhibit	28239825
Fragile X Syndrome	Associate	35597928
Frontotemporal Dementia	Associate	28749476
Head and Neck Neoplasms	Associate	35597928
Heart Failure	Associate	37909603
Immunologic Deficiency Syndromes	Associate	29434128
Inflammation	Associate	21498512, 31650199, 37909603
Leprosy	Associate	38273053
Leukemia Myeloid Acute	Associate	31650199
Lipid Metabolism Disorders	Associate	23001091
Macular Degeneration	Associate	21498512
MASS syndrome	Associate	28603900, 28851260
Melanoma	Associate	17172823, 33794192
Motor Neuron Disease	Associate	22509407
Multiple Myeloma	Associate	30405638
Muscle Spasticity	Associate	30778698
Muscular Dystrophy Duchenne	Associate	24014423
Neoplasms	Associate	23522060, 23885216, 29249638, 32344004, 32663838, 33176848, 37683037, 37981011, 38204755
Neoplasms	Inhibit	30867220
Nervous System Diseases	Associate	12777473
Neurodegenerative Diseases	Associate	33891937
Non alcoholic Fatty Liver Disease	Associate	27301979, 30248338
Osteoporosis	Associate	35597928
Osteoporotic Fractures	Stimulate	36053959
Parathyroid Diseases	Associate	21937621
Parkinson Disease	Associate	36906636
Parkinson Disease Secondary	Associate	10406988
Pituitary ACTH Hypersecretion	Stimulate	28851260
Pre Eclampsia	Associate	28396342
Prostatic Neoplasms	Associate	20583133, 35075375
Prostatic Neoplasms	Inhibit	30867220
Prostatic Neoplasms Castration Resistant	Stimulate	20583133
Psoriasis	Associate	23995795, 38273053
Pulmonary Disease Chronic Obstructive	Associate	31952466
Pycnodysostosis	Associate	10571690
Seminoma	Associate	23885216
Spastic Paraplegia Hereditary	Associate	37024986
Spinal Muscular Atrophy Type IV	Associate	25941960
Squamous Cell Carcinoma of Head and Neck	Associate	37210507, 37683037
Tooth Resorption	Associate	25196993
Triple Negative Breast Neoplasms	Associate	33176848
Urinary Bladder Neoplasms	Inhibit	30563407
Urinary Bladder Neoplasms	Associate	40755754
Xanthomatosis	Associate	26861945, 31796091
Xanthomatosis Cerebrotendinous	Associate	10406988, 10519880, 10869358, 11181744, 11737215, 12270007, 12777473, 15576845, 17444890, 20558929, 20925952, 22018287, 22509407, 23001091, 25447658 View all (39 more)

CYP27A1 (cytochrome P450 family 27 subfamily A member 1)