CleftGeneDB-Search

Gene: DHCR7

Basic information

Tag	Content
Uniprot ID	Q9UBM7; B2R6Z2; O60492; O60717;
Entrez ID	1717
Genbank protein ID	AAC05086.1; AAC18345.1; AAH00054.1; AAD02816.1; AAD24762.1; AAD09766.1; BAG35639.1;
Genbank nucleotide ID	NM_001163817.1; NM_001360.2;
Ensembl protein ID	ENSP00000384739; ENSP00000347717;
Ensembl nucleotide ID	ENSG00000172893
Gene name	7-dehydrocholesterol reductase
Gene symbol	DHCR7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
Sequence	MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA 60 CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK 120 FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL 180 LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN 240 GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD 300 HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL 360 FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL 420 ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF 475

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	Dhcr7	13360	O88455	CPO	Mus musculus	Publication	More>>
1:1 ortholog	DHCR7	483675	E2RNQ5		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	DHCR7		A0A452EN40		Capra hircus	Prediction	More>>
1:1 ortholog	DHCR7		F6TQP5		Equus caballus	Prediction	More>>
1:1 ortholog	DHCR7	1717	Q9UBM7		Homo sapiens	Prediction	More>>
1:1 ortholog	DHCR7	451393	H2R2E7		Pan troglodytes	Prediction	More>>
1:1 ortholog	DHCR7		I3LKI5		Sus scrofa	Prediction	More>>
1:1 ortholog	Dhcr7	64191	Q9Z2Z8		Rattus norvegicus	Prediction	More>>
1:1 ortholog	dhcr7		F1QKG5		Danio rerio	Prediction	More>>

Showing 1 to 9 of 9 entries

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Other genetic variants/mutations

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ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1127869	p.Ser5Leu	missense variant	-	NC_000011.10:g.71444939G>A	UniProt,dbSNP
rs80338853	p.Thr93Met	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444036G>A	UniProt,dbSNP
rs121912195	p.Leu109Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442349A>G	UniProt,dbSNP
rs1555146475	p.Ile145Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441420T>G	UniProt,dbSNP
rs777425801	p.Gly147Asp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441413C>T	UniProt,dbSNP
rs143312232	p.Thr154Met	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441392G>A	UniProt,dbSNP
rs80338855	p.Ser169Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441347G>A	UniProt,dbSNP
rs536394774	p.Trp182Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441308C>A	UniProt,dbSNP
rs1555146061	p.Phe235Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439006A>G	UniProt,dbSNP
rs80338857	p.Arg242His	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438985C>T	UniProt,dbSNP
rs80338856	p.Arg242Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438986G>A	UniProt,dbSNP
rs121909764	p.Gly244Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438980C>T	UniProt,dbSNP
rs104894212	p.Trp248Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438966C>A	UniProt,dbSNP
rs121909765	p.Thr289Ile	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437909G>A	UniProt,dbSNP
rs80338859	p.Val326Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435827C>A	UniProt,dbSNP
rs121909768	p.Arg352Gln	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748C>T	UniProt,dbSNP
rs80338860	p.Arg352Trp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435749G>A	UniProt,dbSNP
rs373306653	p.Cys380Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435665A>G	UniProt,dbSNP
rs61757582	p.Arg404Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>T	UniProt,dbSNP
rs61757582	p.Arg404Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>A	UniProt,dbSNP

Showing 1 to 20 of 779 entries

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Disease or phenotype associated information

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Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001807	Aggressive behavior	phenotype	HPO
C0003492	Aortic coarctation	disease	HPO
C0003850	Arteriosclerosis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0004352	Autistic Disorder	group	CTD_human;HPO
C0004943	Behcet Syndrome	disease	BEFREE
C0005745	Blepharoptosis	disease	HPO
C0005944	Metabolic Bone Disorder	group	CTD_human
C0006157	Breech Presentation	phenotype	HPO
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0008370	Cholestasis	disease	GENOMICS_ENGLAND
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009806	Constipation	phenotype	HPO
C0010417	Cryptorchidism	disease	HPO
C0010964	Dandy-Walker Syndrome	disease	HPO
C0011053	Deafness	phenotype	HPO
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE

Showing 1 to 20 of 219 entries

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

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GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0009918	sterol delta7 reductase activity	IBA
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IBA
GO:0047598	7-dehydrocholesterol reductase activity	IBA
GO:0047598	7-dehydrocholesterol reductase activity	EXP
GO:0047598	7-dehydrocholesterol reductase activity	IDA
GO:0050661	NADP binding	ISS

Showing 1 to 7 of 7 entries

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GO:Biological Process

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GO ID	GO Term	Evidence
GO:0001568	blood vessel development	IEA
GO:0006695	cholesterol biosynthetic process	IBA
GO:0006695	cholesterol biosynthetic process	IMP
GO:0009791	post-embryonic development	IEA
GO:0016126	sterol biosynthetic process	IBA
GO:0016132	brassinosteroid biosynthetic process	IBA
GO:0030154	cell differentiation	IEA
GO:0030324	lung development	IEA
GO:0033489	cholesterol biosynthetic process via desmosterol	TAS
GO:0033490	cholesterol biosynthetic process via lathosterol	TAS
GO:0035264	multicellular organism growth	IEA
GO:0042127	regulation of cell population proliferation	IEA
GO:0045540	regulation of cholesterol biosynthetic process	TAS
GO:0055114	oxidation-reduction process	IEA

Showing 1 to 14 of 14 entries

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GO:Cellular Component

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GO ID	GO Term	Evidence
GO:0005640	nuclear outer membrane	IDA
GO:0005783	endoplasmic reticulum	IDA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0005829	cytosol	IDA
GO:0016020	membrane	HDA
GO:0030176	integral component of endoplasmic reticulum membrane	IBA

Showing 1 to 6 of 6 entries

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Reactome Pathway

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Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1655829	Regulation of cholesterol biosynthesis by SREBP (SREBF)	TAS
R-HSA-191273	Cholesterol biosynthesis	TAS
R-HSA-2426168	Activation of gene expression by SREBF (SREBP)	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-6807047	Cholesterol biosynthesis via desmosterol	TAS
R-HSA-6807062	Cholesterol biosynthesis via lathosterol	TAS
R-HSA-8957322	Metabolism of steroids	TAS

Showing 1 to 8 of 8 entries

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Drugs and compounds information

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ID	Drug Name	Action	PubMed
C000593030	GSK-J4	GSK-J4 results in decreased expression of DHCR7 mRNA	29301935
C002994	ethylene dimethanesulfonate	ethylene dimethanesulfonate results in decreased expression of DHCR7 mRNA	22711419
C003585	22-hydroxycholesterol	22-hydroxycholesterol results in decreased expression of DHCR7 mRNA	19426978
C005219	methyl cellosolve	methyl cellosolve results in increased expression of DHCR7 mRNA	19643169
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of DHCR7 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of DHCR7 mRNA	18445702
C006253	pirinixic acid	pirinixic acid results in increased expression of DHCR7 mRNA	11798191; 17426115;
C006780	bisphenol A	bisphenol A affects the expression of DHCR7 mRNA	21786754; 23557687;
C006780	bisphenol A	bisphenol A results in increased expression of DHCR7 mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased methylation of DHCR7 intron	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of DHCR7 promoter	30906313
C006780	bisphenol A	bisphenol A results in increased expression of DHCR7 protein	20189630
C006780	bisphenol A	bisphenol A results in increased expression of DHCR7 mRNA	29275510
C006780	bisphenol A	bisphenol A affects the expression of DHCR7 mRNA	21636974
C006780	bisphenol A	bisphenol A results in increased expression of DHCR7 mRNA	25270620
C006780	bisphenol A	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of DHCR7 mRNA	28433925
C006780	bisphenol A	bisphenol A affects the expression of DHCR7 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of DHCR7 mRNA	25181051; 30903817;
C006780	bisphenol A	bisphenol A results in decreased expression of DHCR7 mRNA	15901920
C006780	bisphenol A	bisphenol A results in increased methylation of DHCR7 gene	28505145

Showing 1 to 20 of 280 entries

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Functional annotations

Keywords

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Keyword ID	Keyword Term
KW-0152	Cholesterol biosynthesis
KW-0153	Cholesterol metabolism
KW-0225	Disease mutation
KW-0256	Endoplasmic reticulum
KW-0443	Lipid metabolism
KW-0444	Lipid biosynthesis
KW-0472	Membrane
KW-0521	NADP
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0752	Steroid biosynthesis
KW-0753	Steroid metabolism
KW-0756	Sterol biosynthesis
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-1185	Reference proteome
KW-1207	Sterol metabolism

Showing 1 to 18 of 18 entries

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Interpro

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InterPro ID	InterPro Term
IPR001171	Ergosterol_biosynth_ERG4_ERG24
IPR018083	Sterol_reductase_CS

Showing 1 to 2 of 2 entries

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PROSITE

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PROSITE ID	PROSITE Term
PS01017	STEROL_REDUCT_1
PS01018	STEROL_REDUCT_2

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Pfam

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Pfam ID	Pfam Term
PF01222	ERG4_ERG24

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Gene: DHCR7

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction