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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DHCR7 Gene

protein-coding GIFtS: 70
GCID: GC11M071145

7-Dehydrocholesterol Reductase

(Previous name: Smith-Lemli-Opitz syndrome)
(Previous symbol: SLOS)

23 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
7-Dehydrocholesterol Reductase¹ ²		Delta-7-Dehydrocholesterol Reductase²
SLOS¹ ² ⁵		Sterol Delta-7-Reductase²
Putative Sterol Reductase SR-2² ³		D7SR³
7-DHC Reductase² ³		Sterol Delta(7)-Reductase³
EC 1.3.1.21³ ⁸		EC 1.3.1⁸
Smith-Lemli-Opitz Syndrome¹

External Ids:	HGNC: 2860¹	Entrez Gene: 1717²	Ensembl: ENSG00000172893⁷	OMIM: 602858⁵	UniProtKB: Q9UBM7³

Export aliases for DHCR7 gene to outside databases

Previous GC identifers: GC11M073477 GC11M072685 GC11M071368 GC11M070871 GC11M070823 GC11M067439

(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 DHCR7 Gene:

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the

conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane

protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause

Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol

levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation,

facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal

physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple

transcript variants that encode the same protein.(provided by RefSeq, Aug 2009)

GeneCards Summary for DHCR7 Gene:

DHCR7 (7-dehydrocholesterol reductase) is a protein-coding gene. Diseases associated with DHCR7 include smith-lemli-opitz syndrome, and syndactyly, and among its related super-pathways are Cholesterol biosynthesis and Metabolic pathways. GO annotations related to this gene include 7-dehydrocholesterol reductase activity. An important paralog of this gene is LBR.

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7

Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)

summary for DHCR7 Gene:

Delta7-Dehydrocholesterol reductase (DHCR) is a membrane-bound enzyme that catalyzes the final step of

cholesterol biosynthesis (the reduction of the C7-8 double bond in 7-dehydrocholesterol to form

cholesterol), using NADPH as a cofactor. Cholesterol is a vital component in biological membranes and in

myelin and is necessary for the synthesis of steroid hormones and bile acids. DHCR is ubiquitously expressed

and its highest concentrations are found in the liver and brain. Autosomal recessive mutations in the DHCR7

gene have been linked to Smith-Lemli-Opitz syndrome, an inherited disease causing multiple congenital

abnormalities linked to defects in cholesterol biosynthesis. The human gene encoding this enzyme is

localized to 11q12-13.

Gene Wiki entry for DHCR7 (7-Dehydrocholesterol reductase) Gene

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.2 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DHCR7 gene promoter:
SRF NF-1 NF-1/L GATA-3 SRF (504 AA) GATA-1 GATA-2 YY1 HOXA5 ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DHCR7 promoter sequence

Search SABiosciences Chromatin IP Primers for DHCR7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DHCR7

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

Entrez Gene cytogenetic band: 11q13.4 Ensembl cytogenetic band: 11q13.4 HGNC cytogenetic band: 11q13.4

DHCR7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHCR7 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M071145: view genomic region (about GC identifiers)

Start:	71,139,239 bp from pter	End:	71,163,914 bp from pter
Size:	24,676 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7 (See protein sequence)

Recommended Name: 7-dehydrocholesterol reductase

Size: 475 amino acids; 54489 Da

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein

Secondary accessions: B2R6Z2 O60492 O60717

Explore the universe of human proteins at neXtProt for DHCR7: NX_Q9UBM7

Explore proteomics data for DHCR7 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9UBM7

4/11 DME Specific Peptides for DHCR7 (Q9UBM7) (see all 11)

HLLPYFY

MGIEFNP

FIMACDQY

DNWIPLLWC

DHCR7 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_001157289.1 NP_001351.2

ENSEMBL proteins:

ENSP00000432256 ENSP00000384739 ENSP00000347717 ENSP00000435011 ENSP00000435956

ENSP00000435047 ENSP00000435668 ENSP00000435707 ENSP00000432589 ENSP00000435058

ENSP00000436007

Reactome Protein details: Q9UBM7
Human Recombinant Protein Products for DHCR7:

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	Novus Biologicals DHCR7 Protein Novus Biologicals DHCR7 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for DHCR7

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005640	nuclear outer membrane	IDA	9878250
GO:0005783	endoplasmic reticulum	IDA	9878250
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016020	membrane	--	--
GO:0016021	integral to membrane	IEA	--

DHCR7 for ontologies About GeneDecksing

DHCR7 Antibody Products:

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	Novus Biologicals DHCR7 Antibodies
	Abcam antibodies for DHCR7
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	LSBio Antibodies in human, mouse, rat for DHCR7

Assay Products for DHCR7:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for DHCR7
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	Cloud-Clone Corp. ELISAs for DHCR7 Cloud-Clone Corp. CLIAs for DHCR7

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

2 InterPro protein domains:

IPR001171 Ergosterol_biosynth_ERG4_ERG24

IPR018083 Sterol_reductase_CS

Graphical View of Domain Structure for InterPro Entry Q9UBM7

ProtoNet protein and cluster: Q9UBM7

2 Blocks protein domains:

IPB001171 ERG4/ERG24 ergosterol biosynthesis protein

IPB011024 Gamma-crystallin related

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7

Similarity: Belongs to the ERG4/ERG24 family

DHCR7 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DHCR7_HUMAN, Q9UBM7

Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)

Catalytic activity: Cholesterol + NADP(+) = cholesta-5,7-dien-3-beta-ol + NADPH

Genatlas biochemistry entry for DHCR7:

delta 7-dehydrocholesterol reductase,located in the endoplasmic reticulum and continuous outer nuclear

membrane,ubiquitously expressed,most abundant in adrenals,liver,testis,brain,LBR superfamily,catalyzing the

ultimate step of cholesterol biosynthesis,deficient in SLOS

Enzyme Numbers (IUBMB): EC 1.3.1.21¹ ² EC 1.3.1²

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	--	--
GO:0047598	7-dehydrocholesterol reductase activity	IDA	9465114

DHCR7 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for DHCR7:

Decreased viability

Upregulation of Wnt/beta-caten

13 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Dhcr7):

behavior/neurological	cardiovascular system	craniofacial	digestive/alimentary	growth/size
homeostasis/metabolism	limbs/digits/tail	liver/biliary system	mortality/aging	muscle
nervous system	renal/urinary system	respiratory system

DHCR7 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for DHCR7: Dhcr7^tm1Gst Dhcr7^tm1Fdp

inGenious Targeting Laboratory - Custom generated mouse model solutions for DHCR7

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DHCR7

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DHCR7

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DHCR7

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DHCR7
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DHCR7
		SwitchGear 3'UTR luciferase reporter plasmid: DHCR7 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DHCR7
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR7

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for DHCR7 About

See pathways by source

SuperPath

Contained pathways About

cholesterol biosynthesis III (via desmosterol)

Cholesterol biosynthesis	0.85	cholesterol biosynthesis II (via 24,25-dihydrolanosterol)	0.59
superpathway of cholesterol biosynthesis	0.85	cholesterol biosynthesis I	0.59
Cholesterol biosynthesis	0.62	Steroid biosynthesis	0.48
cholesterol biosynthesis III (via desmosterol)	0.59

Metabolism

	Metabolism	0.40			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.40

Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

0.67

Activation of Gene Expression by SREBP (SREBF)

0.67

Pathways by source See SuperPaths
Show all pathways

5 BioSystems Pathways for DHCR7

	Cholesterol biosynthesis
	cholesterol biosynthesis I
	superpathway of cholesterol biosynthesis
	cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
	cholesterol biosynthesis III (via desmosterol)

5 Reactome Pathways for DHCR7

	Metabolism
	Cholesterol biosynthesis
	Activation of Gene Expression by SREBP (SREBF)
	Metabolism of lipids and lipoproteins
	Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

2 Kegg Pathways (Kegg details for DHCR7):

	Steroid biosynthesis
	Metabolic pathways

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7

Pathway: Steroid biosynthesis; cholesterol biosynthesis

DHCR7 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DHCR7

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/139 Interacting proteins for DHCR7 (Q9UBM7^{2, 3} ENSP00000347717⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 139)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	P0CG48²^,³, ENSP00000344818⁴	MINT-6489355 I2D: score=1 STRING: ENSP00000344818
AGO2	Q9UKV8², ENSP00000220592⁴	MINT-6489217 MINT-6489355 STRING: ENSP00000220592
FADS1	O60427³, ENSP00000322229⁴	I2D: score=2 STRING: ENSP00000322229
NDN	Q99608³, ENSP00000332643⁴	I2D: score=2 STRING: ENSP00000332643
ACP6	Q9NPH0³, ENSP00000358241⁴	I2D: score=1 STRING: ENSP00000358241

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001568	blood vessel development	IEA	--
GO:0006695	cholesterol biosynthetic process	TAS	--
GO:0009791	post-embryonic development	IEA	--
GO:0016126	sterol biosynthetic process	--	--
GO:0030154	cell differentiation	IEA	--

DHCR7 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DHCR7 for compounds About GeneDecksing

EMD Millipore small molecules for DHCR7:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for DHCR7 available from Tocris Bioscience About this table

Compound	Action	CAS #
AY 9944 dihydrochloride	Inhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase	[366-93-8]

10 HMDB Compounds for DHCR7 About this table

Compound	Synonyms	CAS #	PubMed Ids
7-Dehydrocholesterol	(-)-7-dehydrocholesterol (see all 26)	434-16-2	18285838
24-Methylenecholesterol	(3b)-Ergosta-5,24(28)-dien-3-ol (see all 8)	474-63-5	--
5-Dehydroavenasterol		--	--
5-Dehydroepisterol	Ergosta-5,7,24(28)-trien-3beta-ol (see all 2)	23582-83-4	--
Avenasterol	Isofucosterol (see all 10)	481-14-1	--
Cholesterol	(+)-ent-Cholesterol (see all 39)	57-88-5	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--

1 DrugBank Compound for DHCR7 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423

10/12 Novoseek inferred chemical compound relationships for DHCR7 gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
7-dehydrocholesterol	98.3	159	9683613 (4), 16814115 (3), 9634533 (3), 20014133 (3) (see all 73)
8-dehydrocholesterol	93.4	7	19406241 (1), 18249054 (1), 12949967 (1), 11352988 (1)
3beta-hydroxysterol	92.3	6	16392899 (1), 11001807 (1), 11562938 (1), 16446309 (1) (see all 6)
ay9944	84.6	7	8987154 (2), 9358606 (2), 16814115 (1)
sterol	80.2	22	9634533 (4), 11001806 (2), 19940018 (2), 9683613 (1) (see all 10)
cholesterol	76	135	17408495 (4), 20014133 (3), 16687448 (3), 18951487 (2) (see all 66)
desmosterol	59.4	1	16207203 (1)
squalene	53.1	8	18951487 (2), 15143536 (1)
ergosterol	43.9	2	10719329 (1), 15464432 (1)
simvastatin	42.8	3	15896653 (2), 19365639 (1)

Search CenterWatch for drugs/clinical trials and news about DHCR7

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DHCR7 gene (2 alternative transcripts):

NM_001163817.1 NM_001360.2

Unigene Cluster for DHCR7:

7-dehydrocholesterol reductase

Hs.503134 [show with all ESTs]

Unigene Representative Sequence: NM_001360

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

ENST00000534795 ENST00000407721 ENST00000355527(uc001oqk.3 uc001oql.3)

ENST00000533800 ENST00000525137 ENST00000527316 ENST00000534701 ENST00000526780

ENST00000525346 ENST00000531364 ENST00000529990 ENST00000527452

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DHCR7

Additional mRNA sequence:

AF034544.1 AF062481.1 AF067127.1 AF096305.1 AK289497.1 AK303881.1 AK309625.1 AK312775.1

BC000054.2

19 DOTS entries:

DT.100647914 DT.418224 DT.100647904 DT.95326177 DT.100647915 DT.120742723 DT.100671595 DT.120742731

DT.91758253 DT.95181639 DT.95357168 DT.100033172 DT.100647913 DT.120742718 DT.40108063 DT.95290620

DT.95357178 DT.100837843 DT.95357166

24/440 AceView cDNA sequences (see all 440):

AU125589 BM909778 BU846251 CA454504 BI835977 BI819438 BE799908 AI610807

AW249784 CR597288 BU931469 AA070075 AL118630 CR609879 AA343352 AI192049

AA861245 CR605911 AA282516 CD672136 AL044893 AA834440 BU848891 BM560287

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for DHCR7 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2a	·	2b	·	2c	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	·	4e	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10a	·	10b
SP1:									-		-		-										-								-														-
SP2:											-		-										-								-														-
SP3:											-		-										-								-
SP4:											-		-										-		-						-
SP5:											-		-										-

ECgene alternative splicing isoforms for DHCR7

(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

DHCR7 expression in normal human tissues (normalized intensities) DHCR7 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TCGTTTCCTT

About this image

DHCR7 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/30 selected tissues (see all 30) fully expand


Uterus
uterus, post-menopause ; glandular cells

Epithelium
cervix, uterine ; squamous epithelial cells

Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Colon (Gastrointestinal Tract) fully expand to see all 4 entries
colon ; peripheral nerve/ganglion

Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

See DHCR7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DHCR7

SOURCE GeneReport for Unigene cluster: Hs.503134

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7

Tissue specificity: Most abundant in adrenal gland, liver, testis, and brain

SABiosciences Expression via Pathway-Focused PCR Array including DHCR7:

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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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 eukaryotes.

Orthologs for DHCR7 gene from 8/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dhcr7^{1 , 5}	7-dehydrocholesterol reductase^{1, 5}	84.85(n)¹ 88.75(a)¹		7 (88.33 cM)⁵ 13360¹ NM_007856.2¹ NP_031882.1¹ 143823145⁵
chicken (Gallus gallus)	Aves	DHCR7¹	7-dehydrocholesterol reductase	72.66(n) 78.95(a)		422982 NM_001199490.1 NP_001186419.1
lizard (Anolis carolinensis)	Reptilia	DHCR7⁶	Uncharacterized protein	75(a)	1 ↔ 1	1(56029782-56055067)
African clawed frog (Xenopus laevis)	Amphibia	BC054203.1²	--	76.1(n)		BC054203.1
zebrafish (Danio rerio)	Actinopterygii	dhcr7²	7-dehydrocholesterol reductase	78.74(n)		378446 BC055631.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ERG24⁶	C-14 sterol reductase, acts in ergosterol biosynth...	29(a)	1 → many	XIV(109095-110411)
thale cress (Arabidopsis thaliana)	eudicotyledons	DWF5¹	7-dehydrocholesterol reductase	46.71(n) 37.74(a)		841465 NM_103926.5 NP_175460.1
rice (Oryza sativa)	Liliopsida	Os02g0465400¹	hypothetical protein	49.28(n) 39.13(a)		4329318 NM_001053344.1 NP_001046809.1

ENSEMBL Gene Tree for DHCR7 (if available)
TreeFam Gene Tree for DHCR7 (if available)

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

Paralogs for DHCR7 gene

LBR² TM7SF2²

2 SIMAP similar genes for DHCR7 using alignment to 11 protein entries: DHCR7_HUMAN (see all proteins):

LBR TM7SF2

DHCR7 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_023181⁴	Smith-Lemli-Opitz syndrome (SLOS)⁴	--	see VAR_023181	2	H P	mis⁴		0	--	--	--	--
VAR_023171⁴	Smith-Lemli-Opitz syndrome (SLOS)⁴	--	see VAR_023171	2	R Q	mis⁴		0	--	--	--	--
VAR_023162⁴	Smith-Lemli-Opitz syndrome (SLOS)⁴	--	see VAR_023162	2	R C	mis⁴		0	--	--	--	--
VAR_023156⁴	Smith-Lemli-Opitz syndrome (SLOS)⁴	--	see VAR_023156	2	S L	mis⁴		0	--	--	--	--
VAR_023177⁴	Smith-Lemli-Opitz syndrome (SLOS)⁴	--	see VAR_023177	2	R S	mis⁴		0	--	--	--	--
VAR_023176⁴	Smith-Lemli-Opitz syndrome (SLOS)⁴	--	see VAR_023176	2	S L	mis⁴		0	--	--	--	--
VAR_023154⁴	Smith-Lemli-Opitz syndrome (SLOS)⁴	--	see VAR_023154	2	G D	mis⁴		0	--	--	--	--
VAR_012725⁴	Smith-Lemli-Opitz syndrome (SLOS)⁴	--	see VAR_012725	2	T I	mis⁴		0	--	--	--	--
VAR_023163⁴	Smith-Lemli-Opitz syndrome (SLOS)⁴	--	see VAR_023163	2	R H	mis⁴		0	--	--	--	--
VAR_023175⁴	Smith-Lemli-Opitz syndrome (SLOS)⁴	--	see VAR_023175	2	C Y	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for DHCR7 (71139239 - 71163914 bp)

Structural Variations
Database of Genomic Variants (DGV) 5 variations for DHCR7: About this table

Variant ID	Type	Subtype	PubMed ID
dgv74n21	CNV	Loss	19592680
nsv897898	CNV	Loss	21882294
nsv518163	CNV	Loss	19592680
nsv897897	CNV	Loss	21882294
nsv897896	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): DHCR7

Locus Specific Mutation Databases (LSDB): DHCR7

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 602858
OMIM disorders: 270400
UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7

Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]: An autosomal recessive frequent inborn disorder of sterol

metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated

serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high

frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background.

Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely

affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe

SLOS. Note=The disease is caused by mutations affecting the gene represented in this entry

20/23 diseases for DHCR7 (see all 23): About MalaCards

smith-lemli-opitz syndrome syndactyly holoprosencephaly germinoma

atrioventricular septal defect developmental disabilities renal agenesis patent ductus arteriosus

mental retardation hirschsprung's disease attention deficit hyperactivity disorder polydactyly

myotonic dystrophy cleft lip cholestasis microcephaly

intellectual disability osteosarcoma type 1 diabetes hypertension

7 diseases from the University of Copenhagen DISEASES database for DHCR7:

Smith-Lemli-Opitz syndrome Syndactyly Intellectual disability Atrioventricular septal defect

Holoprosencephaly Polydactyly Autosomal recessive disease

DHCR7 for disorders About GeneDecksing

9 Novoseek inferred disease relationships for DHCR7 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
smith-lemli-opitz syndrome	98.9	116	16392899 (3), 11298379 (2), 19406241 (2), 18249054 (2) (see all 75)
anomaly congenital multiple	88.5	16	10719329 (1), 10899806 (1), 8863875 (1), 11175299 (1) (see all 12)
mental retardation	77.1	14	10719329 (1), 10899806 (1), 18951487 (1), 8863875 (1) (see all 11)
holoprosencephaly	74.8	4	8989473 (1), 19449411 (1), 9358606 (1)
growth failure	50.7	4	10719329 (1), 11001806 (1), 10951458 (1)
congenital malformation	49.7	2	10329655 (1), 10814720 (1)
craniofacial anomaly	47.1	1	11001806 (1)
developmental disabilities	42.9	3	16814115 (1), 11111101 (1)
genetic disorder	35.4	2	10814720 (1), 11352988 (1)

GeneTests: DHCR7
GeneReviews: DHCR7
Genetic Association Database (GAD): DHCR7
Human Genome Epidemiology (HuGE) Navigator: DHCR7 (18 documents)

Export disorders for DHCR7 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 DHCR7 gene, integrated from 9 sources (see all 172):
(articles sorted by number of sources associating them with DHCR7)

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

Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. (PubMed id 9634533)^{1, 2, 3, 9} Wassif C.A.... Porter F.D. (1998)
Molecular cloning and expression of the human delta7-sterol reductase. (PubMed id 9465114)^{1, 2, 3} Moebius F.F.... Glossmann H. (1998)
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli- Opitz syndrome in Europe: evidence for different origins of common mutations. (PubMed id 11175299)^{1, 2, 9} Witsch-Baumgartner M.... Utermann G. (2001)
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. (PubMed id 17965227)^{1, 4, 9} Witsch-Baumgartner M....Utermann G. (2008)
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). (PubMed id 15954111)^{1, 2, 9} Waye J.S.... Porter F.D. (2005)
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. (PubMed id 11427181)^{1, 2, 9} Jira P.E....Waterham H.R. (2001)
Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. (PubMed id 9683613)^{1, 2, 9} Waterham H.R.... Wanders R.J.A. (1998)
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. (PubMed id 16497572)^{1, 4, 9} Ciara E....Krajewska-Walasek M. (2006)
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. (PubMed id 15286151)^{1, 4, 9} Witsch-Baumgartner M....Utermann G. (2004)
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. (PubMed id 15521979)^{1, 4, 9} Ciara E....Krajewska-Walasek M. (2004)

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

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1717	HGNC: 2860	AceView: DHCR7	Ensembl:ENSG00000172893	euGenes: HUgn1717
ECgene: DHCR7	Kegg: 1717	H-InvDB: DHCR7

(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 DHCR7	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DHCR7

Intellectual Property for DHCR7 gene
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Patent Information for DHCR7 gene:
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GeneCards and IP:
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7-Dehydrocholesterol Reductase

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DHCR7 Gene

7-Dehydrocholesterol Reductase

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