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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SCP2D1 Gene

protein-coding GIFtS: 35
GCID: GC20P018795

SCP2 Sterol-Binding Domain Containing 1

(Previous name: chromosome 20 open reading frame 79)
(Previous symbol: C20orf79)

2 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
SCP2 Sterol-Binding Domain Containing 1¹ ²		HSD22²
C20orf79¹ ² ³		dJ1068E13.2²
Sterol Carrier Protein 2-Like Protein¹ ²		SCP2 Sterol-Binding Domain-Containing Protein 1²
Chromosome 20 Open Reading Frame 79¹

External Ids:	HGNC: 16211¹	Entrez Gene: 140856²	Ensembl: ENSG00000132631⁷	UniProtKB: Q9UJQ7³

Export aliases for SCP2D1 gene to outside databases

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

GeneCards Summary for SCP2D1 Gene:

SCP2D1 (SCP2 sterol-binding domain containing 1) is a protein-coding gene. Diseases associated with SCP2D1 include d-bifunctional protein deficiency, and protein s deficiency. GO annotations related to this gene include sterol binding. An important paralog of this gene is SCP2.

(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_000020.10 NC_018931.2 NT_011387.8

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for SCP2D1
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCP2D1

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

Entrez Gene cytogenetic band: 20p11.23 Ensembl cytogenetic band: 20p11.23 HGNC cytogenetic band: 20p11.23

SCP2D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCP2D1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P018795: view genomic region (about GC identifiers)

Start:	18,794,370 bp from pter	End:	18,795,036 bp from pter
Size:	667 bases	Orientation:	plus 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.,
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About This Section

UniProtKB/Swiss-Prot: SCP2D_HUMAN, Q9UJQ7 (See protein sequence)

Recommended Name: SCP2 sterol-binding domain-containing protein 1

Size: 156 amino acids; 17663 Da

Secondary accessions: Q548A4

Explore the universe of human proteins at neXtProt for SCP2D1: NX_Q9UJQ7

Explore proteomics data for SCP2D1 at MOPED

SCP2D1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_848578.1

ENSEMBL proteins:

ENSP00000366645

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

1 InterPro protein domain:

IPR003033 SCP2_sterol-bd_dom

Graphical View of Domain Structure for InterPro Entry Q9UJQ7

ProtoNet protein and cluster: Q9UJQ7

1 Blocks protein domain: IPB003033 Sterol-binding

UniProtKB/Swiss-Prot: SCP2D_HUMAN, Q9UJQ7

Similarity: Contains 1 SCP2 domain

SCP2D1 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0032934	sterol binding	IEA	--

SCP2D1 for ontologies About GeneDecksing

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(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SCP2D1

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

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(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,
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About This Section

REFSEQ mRNAs for SCP2D1 gene:

NM_178483.2

Unigene Cluster for SCP2D1:

SCP2 sterol-binding domain containing 1

Hs.112794 [show with all ESTs]

Unigene Representative Sequence: NM_178483

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000377428(uc002wrk.3)

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Additional mRNA sequence:

AF418570.1 AK130970.1 AY248902.1 BC105121.1 BC112024.1

1 DOTS entry:

DT.101975001

24/27 AceView cDNA sequences (see all 27):

AI283593 AA974140 AA431698 AI200873 AI969287 AF418570 NM_178483 AI623164

AI025344 BX097724 AA908942 AA609978 AA609959 AA910166 AA813548 AI968799

AA902281 AY248902 AA833611 AK130970 AA431491 AW003303 AI806942 AI269486

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

SCP2D1 expression in normal human tissues (normalized intensities) SCP2D1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

SCP2D1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/1 selected tissues (see all 1) fully expand


Testis (Reproductive System) fully expand to see all 2 entries
Mature Sertoli Cells Seminiferous Tubules
sperm

See SCP2D1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SCP2D1

SOURCE GeneReport for Unigene cluster: Hs.112794

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In Situ
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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 animals and fungi.

Orthologs for SCP2D1 gene from 7/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Scp2d1^{1 , 5}	RIKEN cDNA 1700010M22 gene⁵ SCP2 sterol-binding domain containing 1¹	78.71(n)¹ 72.9(a)¹		2 (71.02 cM)⁵ 66328¹ NM_025490.2¹ NP_079766.3¹ 144823656⁵
chicken (Gallus gallus)	Aves	HSD17B4⁶	peroxisomal multifunctional enzyme type 2	10(a)	possible ortholog	Z(71370594-71426565)
lizard (Anolis carolinensis)	Reptilia	HSD17B4⁶	Uncharacterized protein	10(a)	possible ortholog	GL343193.1(10529507-10604609)
zebrafish (Danio rerio)	Actinopterygii	hsd17b4⁶	hydroxysteroid (17-beta) dehydrogenase 4	9(a)	1 → many	8(397589-421306)
fruit fly (Drosophila melanogaster)	Insecta	CG11151⁶ Mfe2⁶	peroxisomal Multifunctional enzyme type 2	41(a) 1(a)	many ↔ many many ↔ many	X(13633777-13635985) X(16165007-16167858)
worm (Caenorhabditis elegans)	Secernentea	dhs-28⁶ maoc-1⁶ (see all 3)	Protein MAOC-1 (see all 3)	8(a) 4(a) (see all 3)	many ↔ many many ↔ many (see all 3)	X(6818438-6820073) II(7196276-7197495)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	FOX2⁶	Multifunctional enzyme of the peroxisomal fatty ac...	2(a)	1 → many	XI(454352-457054)

ENSEMBL Gene Tree for SCP2D1 (if available)
TreeFam Gene Tree for SCP2D1 (if available)

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

Paralogs for SCP2D1 gene

SCP2² HSD17B4²

1 SIMAP similar gene for SCP2D1 using alignment to 1 protein entry: SCP2D_HUMAN:

HSD17B4

SCP2D1 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 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_024332⁴	--	--	see VAR_024332	2	P S	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for SCP2D1 (18794370 - 18795036 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for SCP2D1: --

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

SCP2D1 for disorders About GeneDecksing

2 diseases for SCP2D1: About MalaCards

d-bifunctional protein deficiency protein s deficiency

Export disorders for SCP2D1 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 SCP2D1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SCP2D1)

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

Fusion and fission, the evolution of sterol carrier protein-2. (PubMed id 16501878)^{1, 3} Edqvist J. and Blomqvist K. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. (PubMed id 16385454)⁹ Ferdinandusse S....Glumoff T. (2006)

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

		AND	OR
Aliases
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: 140856	HGNC: 16211	AceView: C20orf79	Ensembl:ENSG00000132631	euGenes: HUgn140856
ECgene: SCP2D1	H-InvDB: SCP2D1

(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 SCP2D1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SCP2D1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SCP2D1 gene:
Search GeneIP for patents involving SCP2D1

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

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About This Section


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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes SCP2D1 gene at Home site.

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SCP2D1 Gene

SCP2 Sterol-Binding Domain Containing 1

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SCP2D1 Gene

SCP2 Sterol-Binding Domain Containing 1

Aliasesfor SCP2D1 gene

Summariesfor SCP2D1 gene

Genomic Viewsfor SCP2D1 gene

Proteinsfor SCP2D1 gene

Protein Domains /Familiesfor SCP2D1 gene

Functionfor SCP2D1 gene

Pathways & Interactionsfor SCP2D1 gene

Drugs & Compoundsfor SCP2D1 gene

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Expression for SCP2D1 gene

Orthologsfor SCP2D1 gene

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Disorders / Diseasesfor SCP2D1 gene

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Aliases
for SCP2D1 gene

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for SCP2D1 gene

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for SCP2D1 gene

Proteins
for SCP2D1 gene

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for SCP2D1 gene

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for SCP2D1 gene

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for SCP2D1 gene

Drugs & Compounds
for SCP2D1 gene

Transcripts
for SCP2D1 gene

Expression
for SCP2D1 gene

Orthologs
for SCP2D1 gene

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for SCP2D1 gene

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for SCP2D1 gene

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for SCP2D1 gene

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for SCP2D1 gene

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for SCP2D1 gene

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for SCP2D1 gene