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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)
  See related diseases
at  

(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

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SCP2D1

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.,
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: 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 

SCP2D1 Protein Expression

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, 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

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

GO IDQualified GO termEvidencePubMed IDs
GO:0032934sterol 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 CentralTM Interacting Genes and Proteins Networks for SCP2D1

(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
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SCP2D1 (SCP2D)

Search CenterWatch for drugs/clinical trials and news about SCP2D1 / SCP2D

(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 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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
SCP2D1 Expression
About this image


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

SOURCE GeneReport for Unigene cluster: Hs.112794
    SABiosciences Custom PCR Arrays for SCP2D1
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCP2D1

(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 Scp2d11 , 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

1 SNPs in SCP2D1 are shown    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0243324
----see VAR_0243322 P S mis40--------

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

Structural Variations
      Database of Genomic Variants (DGV) variations for SCP2D1: --
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing SCP2D1
DNA2.0 Custom Variant and Variant Library Synthesis for SCP2D1

(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
2 diseases for SCP2D1:    About MalaCards
d-bifunctional protein deficiency    protein s deficiency


SCP2D1 for disorders           About GeneDecksing


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

  1. Fusion and fission, the evolution of sterol carrier protein-2. (PubMed id 16501878)1, 3 Edqvist J. and Blomqvist K. (2006)
  2. 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)
  3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  4. 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)
  5. 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)
  6. 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
 ANDOR
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
NameDescription
PharmGKB entry for SCP2D1 Pharmacogenomics, SNPs, Pathways

(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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 Browse CLIAs at Cloud-Clone Corp.
 Search LifeMap BioReagents cell lines for SCP2D1
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCP2D1
 Browse SwitchGear 3'UTR luciferase reporter plasmids for SCP2D1
 Browse SwitchGear Promoter luciferase reporter plasmids for SCP2D1
 Search ThermoFisher Antibodies for SCP2D1
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCP2D1
 inGenious Targeting Laboratory - Custom generated mouse model solutions for SCP2D1
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SCP2D1
Customized:
 lentivirus for stable overexpression of SCP2D1
 lentivirus expression plasmids for stable overexpression of SCP2D1
 adenovirus for overexpression of SCP2D1
 Search LSBio for Antibodies for SCP2D1
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
       
GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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